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This page features a running list of news items with or without brief commentary. You are invited to share those items that you find interesting with me by tweeting them to [at]MarkWLeach, or submit a comment anywhere on the blog with a link to the news item.

08/06/18

 

 

12/18/2017

12/04/2017

11/13/2017

10/30/2017

More thoughts on the question posed by this tweet at this post.

10/25/2017

Mr. Stephens says his is a life worth living, that he shouldn’t have to justify his life, and that individuals with Down syndrome, while being a source of happiness, are instead the canary in the eugenics coalmine.

10/03/2017

9/07/2017

Five years after going to market with verifi & Harmony, the two labs remain locked in a legal battle with verifi alleging Harmony infringes on its patent and that Ariosa (Harmony’s lab) filed counterclaims of $100M to illegally deter Illumina from protecting its patent:

A survey of non-Western obstetric providers found that NIPT is considered more clinically useful by private sector docs as compared to public sector and that a debate is needed “to improve access and equity to DS screening services”

A dad writes about his 30-year old daughter with Down syndrome:

8/31/2017

8/30/2017

David Perry has an important article in The Nation on how if prenatal testing for Down syndrome is a predictor, then new technologies like CRISPR will create a society where disability is code for poverty. Those with the means will opt to genetically engineer their future offspring through pre-conception gene editing. Those without the means will have children the old-fashioned way and some of those will have children with diagnosable disabilities. Hence, those with kids with disabilities will be concentrated among the poor as the rich opt to eliminate disabilities through preconception and prenatal genetic technology. Currently, this dynamic has a somewhat perverse result.

The perverse result is that every technology advance is first available to those with the means to pay for it. Currently, this means that the well-off have better access to prenatal testing for Down syndrome and many of those will then terminate following a prenatal result. But, this disparity between the rich and poor has led many to argue that the bioethical principle of justice, i.e. fairness, equal treatment, then requires public subsidization of prenatal genetic testing so that the poor can have equal access. In the current way prenatal testing is administered, that means many of those, too, will abort following a prenatal result and do so based on the same biased, out-dated information the rich are counseled with as well. So, the justice argument is: its unfair that only rich people can get prenatal testing and terminate, ergo we must make prenatal testing affordable so the poor can similarly have the option to selectively terminate. My justice argument is that it is unfair how prenatal testing is funded in an unbalanced way: the funding is only for the testing, but not for genetic counseling, accurate information, and grants for support organizations to support expectant parents. To me, this is the first wrong to be righted before further spending money on a currently broken system of how prenatal testing is administered.

2/22/17

“The variants in the study are clinically significant: Some increase the risk of the linked condition by up to 70 percent. But variants interact with many other genetic and environmental factors, and these interactions may cause the condition’s features to be more or less severe — or even absent.”

Something to consider as the results from prenatal testing will only keep expanding. Full article.

2/6/17

Britain’s biggest abortion provider has announced that it will begin turning Irish women away from its clinics, blaming overwhelming demand for its services.

* * *

The organisation said it would refer Irish clients to the British Pregnancy Advisory Service (BPAS), which also offers terminations. A spokeswoman for the BPAS warned that its services were also under strain.

“We’re looking at our capacity across the country. Irish women may have to go to slightly different locations to access our services,” she said.

Full report here.

2/1/17

New Delhi clinic claims it has used stem cells to treat Down’s syndrome

From the report:

“There’s no obvious way in which this treatment would have worked,” says Victor Tybulewicz at the Francis Crick Institute in London. To have any effect, neural stem cells would need to be injected into the brain, he says.

“The author appears to have no idea of where [the cells] are going, or what they’re doing,” says Fisher. “It’s even worse now we know they’ve treated 14 patients, not just one.”

More here on the published case study.

1/30/17

“TDSN also offers a “new parents meeting” and more than once I have met couples who have not yet had their babies, but have had a prenatal diagnosis for Down syndrome, who have attended the meeting. Twice, the mothers-to-be were crying, but not because they were expecting a child who might have Down syndrome, but because they had experienced pressure to have abortions, and they did not want that option.”

Read more here.

“The update to the VeriSeq NIPT software “is another important milestone towards providing a more complete high-quality NIPT solution to our laboratory partners in the EU,” Jeff Hawkins, Illumina’s vice president and general manager of reproductive and genetic health, said in a statement.”

Full article here. Press release here.

“Before having Molly, I had no real experience of Down Syndrome.

“Out of pure ignorance, I thought it was a terrible thing for a child.

“During my pregnancy, I cried about losing my little girl.

“I thought I wouldn’t get a ­mother-daughter bond or that she would be hard work — but I was completely wrong.”

Read about an Irish Mom’s experience.

1/27/17

“Laura is 15 now, and she has Down syndrome, so writing about her has its complications. For each sentence, I could add a page of narrative caveats, a fine print to govern the legal interpretation of anecdote:

This positive description is not intended to inspire. Yes, she is sweet, but also has non-sweet moments. The author stipulates to the existence of said moments, but feels no need to describe them for “balance.” Despite his numerous positive encounters with persons with Down syndrome, the author explicitly rejects the contention that they share a single, winning “personality,” or the underlying assumption that any one can represent all the others. Though the author has strong opinions on a range of social issues, he declines to weaponize his daughter in their service. Laura is not an example in an argument. She is not a success story. She is not a story at all. She is a person, and by describing her, the author does not speak “for” her, but intends to suggest what she is like and raise questions about the world she enters. This work is related to, yet different from, his work as a parent, which is to help her find, in every sense, her place.”

Read George Estreich’s column, I don’t speak for Laura, here.

“‘Euthanasia began with the denunciation of people as useless mouths to feed,’ Lammert told the audience, which included German Chancellor Angela Merkel and German President Hans-Joachim Gauck. ‘Barbarism of language is barbarism of the spirit. Words became deeds.'”

Full report here.

6/19/15

Here’s a collection of tweets of mine on news reported this week:

A Washington Post commentary by a mom from the Netherlands raises the concern about prenatal testing for Down syndrome being a public health initiative:

And, a report provides evidence of the mom’s concern:

And, a prenatal testing company makes it even more blatant the target of their test:

Lastly, NIPS is now reporting out cancer findings for the mom:

6/12/15

Court invalidates Sequenom’s Prenatal DNA Patent

An appellate court has upheld a decision granting summary judgment to Ariosa in defending itself against claims fo infringement by Sequenom of Sequenom’s prenatal DNA patent. Based on other Supreme Court jurisprudence, because Sequenom’s test is based on a phenomena of nature, it is not patentable. More on the original decision at this post.

Ariosa licenses technology to European labs

Coincidentally, 24 hours prior to being cleared of claims of infringement, Ariosa’s Harmony test was licensed to European labs after receiving a regulatory certification. Having already tested 500,000 women globally, Ken Song, Ariosa’s CEO, said the licensed labs, “represent a significant step in reaching our goal to offer the broadest access to the world’s leading and most validated NIPT to pregnant women worldwide.

cell free DNA testing expected to have greatest market growth of prenatal testing

Surely the goal to offer the broadest access to Ariosa’s Harmony, and other cell free DNA tests, is completely unrelated to the market for prenatal testing being valued at $1.2 Billion in 2012 with expected growth to $8.37 Billion by 2019, with cell free DNA testing expected to have the greatest growth.

99% accuracy = 81% (or 76%)

A recent study on the relative accuracy of cell free DNA testing reports that while it detects pregnancies actually carrying a child with Down syndrome 99% of the time, when false positives are factored in, it has a positive predictive value of 81% for patients who had conventional screening and 76% in low-risk populations.

The New England Journal of Medicine noted that the reported accuracy rates of 99% for detecting pregnancies actually carrying a child with Down syndrome occurred in sample sizes with an unnaturally high incidence rate for Down syndrome. The line that a test, when conducted in a population not reflective of the actual population, has a 99% accuracy rate reminds me of the line: “They’ve done studies you know: 60% of the time, it works every time.” Even Ron Burgundy knows that doesn’t make sense.

Leading cell free DNA researcher raises concerns over informed consent

So says Diana Bianchi, lead researcher for the cell free DNA test verifi, in a commentary in Nature.

Bianchi raises caution over mothers receiving unexpected incidental findings from their tests, like the recent headlines reporting these tests detecting cancers in the mother:

A healthy pregnant woman has a blood test to rule out the possibility that her baby has certain abnormalities, such as Down’s syndrome. One week later, a genetic counsellor calls her and recommends a follow-up test such as amniocentesis. When the counsellor calls again, she says that the baby is healthy but that the mother needs to be screened for cancer.

With these incidental findings comes complicated counseling, which is not adequately addressed by current informed consent forms, says Bianchi:

I reviewed the consent forms used by five major US commercial providers of non-invasive prenatal blood tests. In two of them the physician, not the mother, signs the form stating that the mother has been counselled. In two of the other three, the mother signs the form, but the form either does not mention incidental findings or it explicitly states that the laboratory will not report them. Only one notes that, “in rare circumstances, genetic testing may reveal sensitive information about your own health”.

6/2/15

Quest enters NIPS market

Quest Diagnostics was once a partner lab for Natera’s Panorama, then Sequenom’s MaterniT21, and now it has developed its own test based in part on Sequenom’s technology.

The new test is called QNatal Advanced. Some fact checking from the Press Release:

  • “QNatal Advanced analyzes cell-free fetal DNA in circulating maternal blood” **ahem**no it doesn’t. It’s placental DNA, not fetal.
  • “The phrase ‘noninvasive prenatal screening’ coined by Quest Diagnostics reflects the seriousness with which we take our responsibility to ensure women have access to health insights that are appropriate, actionable and of the highest quality,” said Douglas S. Rabin, MD, medical director, women’s health, Quest Diagnostics. **cough** no Quest didn’t “coin” noninvasive prenatal screening–ACMG did (and had Quest read ACMG’s statement it would have also seen it’s placental DNA, not fetal).

That said, Quest should be commended as it is only recommending that its new test be restricted to “high risk” patients and is emphasizing that its test is a screening test, not a diagnostic test.

Sequenom’s stock price drops 15% in one day

So says the report from GenomeWeb:

mixed first quarter financial results led to a sell-off of Sequenom shares, which were down 25 percent in May compared to April. The day after it announced its results, its stock price dropped 15 percent.

Natera issues IPO seeking $100 million

Interesting report (again from GenomeWeb):

  • Natera issued an IPO seeking $100 million
  • Natera had previously raise $55 million in private financing
  • Natera performed 180,000 Panorama tests in 2014 alone–that’s almost 500 every. single. day.

5/20/15

People don’t understand uncertainty

  • I enjoy TED talks and have daydreamed of giving one. Apparently I have been giving such a talk since 2008 when explaining the misleading effect of screening test’s detection rate versus positive predictive value, as Peter Donnelly, a statistician, does about half-way through his talk at this link.

“The corporate arms race” to develop a better Down syndrome prenatal test

  • There is news out of Britain of a potential prenatal test for Down syndrome based solely off of a maternal urine sample which has a claimed 90% detection rate. It’s developer, Dr. Ray Iles, says its the culmination of his life’s work. Prof. Chris Kaposy wonders if Dr. Iles may have spent his life working towards something more worthwhile:

There is an inconsistency between the lived experience of people who have Down syndrome and the corporate arms race to develop new and better means for identifying fetuses with Down syndrome. … The arms race to develop these tests is not being driven by the needs of people with Down syndrome or the needs of their families. … [C]reating these tests might require a lifetime’s work. But the social utility of these tests is incommensurate with the effort needed to create them. In contrast to the scientist who devotes her life to the treatment of cancer, Dr. Iles’s devotion to create a test that helps parents to avoid the birth of people who tend to enjoy their lives seems somehow less ambitious, or off the mark.

  • As Megan Allyse says over at the Prenatal Information Resource Consortium: “Word.”

4/2/15

Tons of significant articles published leading into April:

Moms views on prenatal testing

  • Jisun Lee, who blogs at the awesomely-named Kimchi Latkes, writes about the myths and realities of noninvasive prenatal screening (NIPS), helpfully linking to this blog which drives traffic here everyday.
  • Another mom, Megan Landmeier, blogs at ourstubbornlittlemiss. While the little miss referenced in the blog title is her daughter with Down syndrome, the post is about this mom’s experience with prenatal testing in her subsequent pregnancy.
  • And, Maureen Wallace, who writes everywhere, but especially at SheKnows, picks up the call made at this blog and elsewhere for the NIPS labs–which know every mom receiving a screen-positive result–to also send them the recommended educational materials recognized and called for by professional guidelines.

NIPS not recognized for subchromosomal/microdeletion conditions or sex chromosome aneuploidies

  • The European Society of Human Genetics & the American Society of Human Genetics issued a joint statement on the ethics of noninvasive prenatal testing. As featured at the helpful blog prenatalinformation.org, one of the key points of the joint statement was that the ESHG & ASHG say that NIPS is not recognized as valid for detecting subchromosomal/microdeletion conditions like DiGeorge syndrome or sex chromosome conditions like Turner syndrome.

Ariosa says its test Harmony is accurate when offered to the general population

  • This news was just published in the New England Journal of Medicine (NEJM): a study funded by Ariosa not surprisingly found its test, Harmony, accurate when offered to the general population as compared to traditional prenatal screening. This is how the headlines are reading, but there is a lot of bracketing of these results both by the authors themselves and by a simple review of the results:
  • The authors themselves note that NIPS tests like Harmony do not test for the variety of conditions that traditional screening does, nor does NIPS share information about the health of the pregnancy and the mom the way that traditional screening does. For this reason, the results are not to be read as a recommendation to replace traditional screening with NIPS.
  • And, while Harmony detected all pregnancies with a child with Down syndrome, it detected no more than traditional screening did for pregnancies with a child with Trisomy 18 or 13.

SMFM: still only offer NIPS to “high-risk” women

  • A week before Ariosa’s study was published in the New England Journal of Medicine, the Society for Maternal-Fetal Medicine (SMFM) issued an updated statement on NIPS. Tellingly, it cautioned:
    Current  guidelines  from  SMFM/ACOG,  ACMG  and  NSGC  all  recommend  against  the  use  of cfDNA  aneuploidy  screening  as  part  of  routine  prenatal  care  for  all  women.  SMFM/ACOG  and  NSGC  guidelines  suggest  that  this  test  not  be  utilized  for  “low  risk”  women.  Although  cfDNA aneuploidy screening appears to have similar sensitivity and specificity for identifying trisomy 21  and  the  common  aneuploidies  in  both  high  risk  and  lower  risk  populations,  several  of these  studies  have  been  done  by  laboratories  with  a  commercial  interest  and  have  had  limited transparency  of  many  details.

The Potential for Harm is Increasing

  • So say researchers who submitted a letter to the editor of the same edition of the NEJM that featured Ariosa’s article on its test performance in the general population. These doctors instead caution:

We are aware anecdotally of patients who have terminated karyotypically normal pregnancies on the basis of false positive results of noninvasive prenatal screening. As companies are expanding noninvasive prenatal screening to include the detection of rarer chromosomal abnormalities in low-risk pregnancies, the potential for harm is increasing.

Answers to the questions: How many babies are born with Down syndrome? How many are aborted?

  • Gert de Graaf, Frank Buckley, and Dr. Brian Skotko answer these questions their paper published this week. Some of the findings from the US population:
  • There are about 5,300 babies with Down syndrome born annually.
  • There are about 3,100 selective abortions for Down syndrome performed annually.
  • Advances in prenatal testing since the 1970’s have been followed by increased selective abortions for Down syndrome.
  • These numbers pre-date the most recent advance in prenatal testing, NIPS.

Fellow parent and blogger, Amy Julia Becker writes about the Ariosa and Dr. Skotko et al. studies at this post.

3/11/15

Examples of journalistic, medical, and theological malpractice from recent news reports:

Screen Shot 2015-03-10 at 11.10.22 AM

From the article at Medscape by Neil Osterwiel–direct quotes–see if the beginning matches what is said at the end:

  • Noninvasive prenatal testing is so good at ruling out certain fetal abnormalities that rates of more invasive procedures have plummeted.
  • “It can’t be diagnostic for the fetus. We’re not really assaying the fetal nucleic acids; we’re assaying a mix of placenta and mother,” [Bianchi] said.
See this post for more on that last comment. The report also shares that “there has been a 79% decline in the use of amniocentesis and a 69% decline in the use of chorionic villus sampling.” Something predicted two years ago by this post (which further explains how these plummeting rates will make diagnostic tests more risky).
Screen Shot 2015-03-10 at 11.50.07 AM

Again, what is wrong about the headline based on what is reported in the article:

Dr Sheila Macphail, consultant in Obstetrics and Fetal Medicine at the RVI, said: “A small amount of DNA from the unborn baby always circulates in the mother’s blood stream.

“The new technology allows this small amount to be identified and amplified permitting greater diagnostic accuracy. Any results which indicate a high risk would then require a further diagnostic test.

“We still advise expectant mothers to have their usual ultrasound scans and testing for Down’s Syndrome as part of their routine NHS care.”

Screen Shot 2015-03-10 at 12.17.00 PM
From the report by David Wagner for KPBS:
Eunice Lee got more than she signed up for when she took a noninvasive prenatal test made by San Diego-based Sequenom.
The Santa Barbara anesthesiologist was 40 years old at the time, and her doctor recommended she take Sequenom’s MaterniT21 test to screen her unborn baby for Down syndrome and other chromosomal problems. Such tests have become routine for pregnant women Lee’s age. Using only a maternal blood sample, they can spot chromosomal abnormalities in a fetus.
And, finally, news made by a Catholic Bishop, where the headline says it all:
Screen Shot 2015-03-10 at 12.58.22 PM

2/21/15

Three stories recently in the news have drawn commentary worth considering:

  • Baby Leo, an Armenian ultimatum, & how to spend $500,000

A dad from New Zealand, who was forced to leave his first child with Down syndrome, raised $500,000 through gofundme based on his story that his Armenian wife forced him to choose between their newborn son with Down syndrome and her. She disputed his story. And the internet weighed in.

Here’s a pretty comprehensive report on the story, my take on it, and a post from Meriah Nichols picked up by Huffington Post, which then comically was posted by an Armenian site as through Nichols was the wife in the story.

  • Why a mom terminated after learning her child had Down syndrome

A mom shared via YahooParenting her reasons for terminating after finding out prenatally her child had Down syndrome. I wrote about her account as did Maureen Wallace, on why she didn’t terminate after a prenatal result.

  • IndianaWelcomePro-life measures featuring Down syndrome

Indiana has two bills making their way through the state legislature featuring Down syndrome promoted by Indiana Right to Life. I wrote on both in separate posts here and here, and David Perry has written on them, most recently here.

2/2/15

  • NHL All-Star wins car for 10 y/o w/Down syndrome

Alex Ovechkin’s constant pleas for a new car at the fantasy draft. It was finally revealed Sunday that Ovie was trying to win the vehicle for the family of a 10-year-old girl with Down syndrome. Once Honda became aware of Ovechkin’s reasons, they donated a Honda Accord to the cause.

  • NPR repeatedly reports misinformation about new prenatal test for Down syndrome

Multiple times in a report on non-invasive prenatal screening, an NPR report incorrectly refers to what is tested:

This kind of test , called cell free fetal DNA testing, uses a simple blood sample from an expectant mother to analyze bits of fetal DNA that have leaked into her bloodstream.

What’s tested isn’t fetal DNA, and this isn’t news: it’s been known for years. Still, NPR’s report demonstrates the need for the NSGC’s recent fact sheet on NIPS.

  • NIH launches sub-site for researchers of Down syndrome 

The National Institutes of Health has launched a subsite of DS-Connect: The Down Syndrome Registry for researchers, clinicians, and other professionals with a scientific interest in Down syndrome to access de-identified data from the registry. This Web portal will help approved professionals to plan clinical studies, recruit participants for clinical trials, and generate new research ideas using information gathered from the registry participants.

  • Photograph: Apichart Weerawong/AP

    Photograph: Apichart Weerawong/AP

    Baby Gammy granted Australian citizenship

One of the biggest stories of 2014 has a new development:

Baby Gammy, an infant who was left behind in Thailand by his Australian parents in a major surrogacy scandal, has been granted Australian citizenship.

* * *

In a TV interview the Australian parents of Gammy had previously said they wanted a refund from the Thai surrogacy agency when they were told one of their twins would be born with Down’s syndrome, and would have requested the pregnancy be aborted.

“It was late into the pregnancy that we learned the boy had Down’s,” David Farnell said. “They sent us the reports but they didn’t do the checks early enough. If it would have been safe for that embryo to be terminated, we probably would have terminated it, because he has a handicap and this is a sad thing. And it would be difficult – not impossible, but difficult.”

Farnell has been previously convicted of 22 child sex offences and spent time in prison. The Department for Child Protection has initiated an investigation into the matter.

1/29/15

  • Bigoted eugenicists are stupid
Austen Heinz

Austen Heinz

Austen Heinz  is the CEO of Cambrian Genomics, which proposes to print DNA for almost anyone to create new forms of life. Commenting on his technology, Heinz has made the following statements as justifications for his company’s offerings:

 “I can’t believe that after 10 or 20 years people will not design their children digitally.”

Is he essentially enabling eugenics? He rejects that term, which to him means government interference with reproductive rights. He insists that it differs from his approach, which he describes as allowing individuals to eliminate future suffering in a more humane way than abortion, “which is pretty barbaric.” “A decent percentage of people have really nasty mutations that cause really bad, horrible things,” like Down syndrome and cystic fibrosis, he said. “These are basically like hell on Earth, and I think it’s smart to be able to avoid those things.”

I’m willing to bet all of Heinz’s millions of dollars in venture capital that he has never had a relationship with anyone with Down syndrome. If he had, he would know that they love their lives. Some man of science: stating a conclusion after zero investigation or knowledge of the facts.

Plus, that last quote was from a report by Stephanie Lee from the San Francisco Chronicle. I will make an equal bet that neither Ms. Lee nor her editors would have allowed Heinz’s bigoted statement about those with Down syndrome to have gone unchallenged had he been speaking of another minority–a point made by fellow dad and blogger, David Perry. Scientists continue to search for the “gay gene;” no doubt Heinz’s statement would have been reported much differently if he had sounded off on that as a “nasty mutation” that is “basically hell on Earth.”

  • Motor City MadMan says something offensive

Heinz’s comments about Down syndrome shows he’s as enlightened as Sweaty Teddy, Ted Nugent, who recently, repeatedly, used the R-word in an obscenity laced on-line post, just prior to being scheduled to join Gov. Sarah Palin on her television show; Gov. Palin’s youngest son has Down syndrome.

  • Happy birthday, Sweetie Pie

Elaine Ambrose reflects on what her granddaughter, who recently turned 5, has taught her, with a quote on-point for addressing Mr. Heinz’s ignorance:

Uneducated and insecure people reveal their prejudices when they ridicule someone with learning and physical disabilities such as Down syndrome. When I’m with Sweetie Pie, sometimes I get “the look” from others or the recognizable sigh of “I’m thankful that didn’t happen to me.” Thanks to Sweetie Pie, I have learned that ignorance and cruelty are bigger handicaps than a little extra chromosome.

1/14/15

  • Self-advocate invited guest for State of the Union

Sara Wolff, a young lady with Down syndrome, will be the invited guest of Sen. Bob Casey (D-PA) for the 2015 State of the Union. From the report:

Mr. Casey said he wanted to honor Ms. Wolff because of her advocacy. She kept him focused on getting the bill passed with a catchphrase, “Stay pumped,” he said. Ms. Wolff testified for the bill at a Senate hearing in July.

  • Penny Becker turns 9

Amy Julia Becker’s daughter, Penny, turned nine, causing Becker to reflect on how little receiving Penny’s diagnosis of Down syndrome told her about her daughter:

Still, the biggest problem I see with these tests is not their false claims of accuracy or even the assumption that abortion will often follow on the heels of a diagnosis of Down syndrome. The problem I see is that of assuming that knowing a child has Down syndrome gives parents much meaningful information at all.

* * *

[T]he diagnostic portrait, even though it included some accurate facts, never showed me anything true about our daughter.

  •  FDA considering regulating NIPS & other LDTs

Beth Daley at the NECIR covers a recent hearing on whether the FDA will regulate laboratory developed tests, like non-invasive prenatal screening laboratories Sequenom, Ariosa, Illumina, and Natera. One argument in favor of regulation:

“A patient travels by an ambulance that is regulated, to a hospital that is regulated, for care using medicines that are regulated, administered by nurses and physicians, who are regulated. Yet today, that same patient’s life or death could hinge on whether a single, unregulated diagnostic test result is meaningful,” Sharfstein wrote.

  • A mom shares her prenatal diagnosis on her blog

What I expect will become an increasingly more common way to share the news, a mom blogs about her prenatal diagnosis:

At this point we do not want sympathy, but we do want love and support.  You can support us by learning more about Down syndrome, staying positive and congratulatory, and recognizing that we might need extra help along the way.

Her first resource cited is Diagnosis to Delivery, one of the resources provided by the National Center for Prenatal & Postnatal Down Syndrome Resources.

1/5/15

  • South Korean Sea Salt Harvested by Slaves with Disabilities
    From the report:

    Five times during the last decade, revelations of slavery involving the disabled have emerged. Kim’s case prompted a nationwide government probe of thousands of farms and disabled facilities that found more than 100 workers who’d received no, or scant, pay.

  • Four men with disabilities removed from dilapidated bunkhouse exploited for labor
    In South Carolina, not South Korea:

    The bunkhouse’s owner, Paul Byrd, of Texas, told The Times that Mr. Jones had worked for years with no vacation and was given $50 a week to spend at Walmart. He said that neither Mr. Jones nor any of his colleagues had bank accounts because they had no identification, and that he kept Mr. Jones’s savings of about $6,000 in an envelope.

  • Pelham, AL police audiotaped mocking disabled students
  • An oasis of care for the disabled in Louisville, Kentucky
    A light amongst the darkness:

    For years, parents like Ms. Kramer have struggled to find compassionate health care for their adult children with profound disability, among the most medically underserved populations in the country. They are told their children are not welcome: too disruptive in the waiting room, too long in the examining room — beyond the abilities of doctors who have no experience with intellectual disability.

    * * *

    Now, though, Ms. Kramer has a place to go.

    * * *

    Off they go into the wintry Kentucky rain, bound for refuge on the other side of Louisville: the Lee Specialty Clinic, one of the very few free-standing facilities designed exclusively to provide medical and dental treatment — and a sense of welcome — to people with intellectual disability.

5/1/14

  • Big News: NIPS results in 90M investment being shut down.
    Quoting liberally from the report at GenomeWebPerkinElmer has decided to close its Signature Genomics cytogenetic testing services business … which provides diagnostic genetic testing services using microarrays [CMA].PerkinElmer cited “changing market conditions, including a highly unfavorable reimbursement environment, combined with a significant decline in demand for invasive procedures due to the uptake of non-invasive prenatal testing” as reasons for its decision.  * * *PerkinElmer spent $90 million to acquire … Signature Genomics in 2010. * * * In the years following its acquisition, Signature Genomics took part in several high-profile studies that led professional societies and organizations to recommend CMA as a first-tier clinical test, including a 2012 New England Journal of Medicine paper that called for CMA to become the standard of care in prenatal diagnostics.

4/19/14

Raoef_Mamedov-The_Last_Supper_Down_Syndrome_Full_Large

Raoef Mamedov, The Last Supper

  • This post about a depiction of a shepherd and an angel with Down syndrome appearing in a medieval painting of a nativity scene got picked up by Reddit this week and received a lot of views (the companion post examining the modern meaning of the painting, not so much). The painting is now on exhibit at the Metropolitan Museum of Art–the first time in over a decade (I believe) (HT: to Jake for leaving a comment making me aware of this).  But on this Easter weekend, I was reminded of the photographic rendering of Da Vinci’s “The Last Supper” in which all the disciples and Christ are portrayed by individuals with Down syndrome, pictured above. The photographic series is examined at this blog post (with some rather interesting comments–feel free to leave your own).

4/17/14

  • Ryan Niemiec writes on how, when meeting a person with a more obvious disability, to focus on their strengths:

    You notice what is different. You see a deficit. You focus on the problem. Probably, you have thoughts about how the person is limited in different ways. You might have an emotional reaction of pity. It’s OK. Be honest about your initial reaction. But then, move beyond it. Here’s how.

    Click the link to read on how to focus on those strengths. Niemiec shares that he will be presenting this summer at the National Down Syndrome Congress annual convention, this year in Indianapolis, Indiana. I, too, will be presenting there and hope to meet you at the convention if you are attending.

  • Leah Thompson, who blogs at Our Cora Bean, shares her birth story with her daughter who required open heart surgery. It begins:
My love, my girl, my beautiful little Cora Bean was born a little over 9 weeks ago, and stunned us all by being born with Down syndrome.  It was something I had never imagined, had never considered, had never expected could be possible.
But here she is in our lives.  And I have never been more grateful.  We are so blessed by this beautiful little being.
  • Country music duo, and married couple, Joey & Rory, recently welcomed a daughter who happened to have Down syndrome. Rory, the father, shares their story along with a wonderful video of the home birth and their welcoming of their daughter, at his blog This Life I Live.
  • Do you ever notice how current advertising is almost blatantly diverse. I say blatantly because there are certain advertisements that you see where the diversity seems a bit forced. It reflects a commitment by ad execs to include people of varied ethnicities and, increasingly, sexual orientation, as possible. But, do you ever note the diversity that is not represented? Individuals with disabilities, those with physical or (particularly) intellectual or developmental disabilities, are rarely included in modern marketing. But that is changing.
    It is changing in part due to Katie Driscoll, one mom who is including her daughter with Down syndrome in advertising campaigns. Her reason?

I didn’t want people to feel sorry for her or for us because I was proud of who she was.

4/11/14

  • One mom, who blogs at sugaranspiceKDnE, shares how she received the “earth shattering news” from her doctor that her Panorama NIPS test had “tested positive for Down syndrome.” How she confirmed the results through an amniocentesis. And, how it was her daughter who changed her perspective and where she turned to find hope. Read the whole thing (it’s brief and powerful).
  • One mom’s experience receiving a postnatal diagnosis. Candidly tells of all the thoughts going through her head, many of which I had myself. One excerpt from the post:

Even though I was hurting I still felt love for her and felt very protective of her immediately. I just looked at her while she slept and wondered about how life would be. Told her I would be here for her and that I will always be her mommy and love her to the end of the world and back over and over again.

Also, spot the number of ways the medical professionals entrusted with caring for her and her daughter could have done a better job.

  • A father writes of becoming a grandfather again, after his daughter adopted a child with Down syndrome. How she responded to the question of why adopt a child with Down syndrome?

We focused much on the “why not” because we really wanted people to grasp that Ezekiel is a person and worthy of life and love.

Theirs was an international adoption. If you are interested in adopting a child with Down syndrome in the United States, or considering releasing your child for adoption, contact the National Down Syndrome Adoption Network.

  • Jisun Lee, who blogs at KimchiLatkes, approaches the realization that other parents shared when she first learned her son had Down syndrome. Surprised then to read they wouldn’t change their child having Down syndrome, now she’s approaching that same acceptance, as though this was the life she was meant to have with her son. Beautifully written with a wonderful analogy to surfing.

2/18/14

  • Christopher Hart of Hyde Park found his way blocked by a wall of snow Thursday. (Matthew J. Lee/ Globe Staff)

    Christopher Hart of Hyde Park found his way blocked by a wall of snow Thursday. (Matthew J. Lee/ Globe Staff)

    I’ve written about the concept known as “structural violence,” where the basic structure of society effects violence on a minority. Most Americans have been experiencing one of the worst winters in recent memory. As we go about our day, we are aware of the hazards posed by slick roads and pavement. But, how many of us have noticed the graded entries and exits to sidewalks and entryways blocked by snow and appreciated that as another obstacle for our fellow citizens with mobility differences? The picture at right from the Boston Globe encapsulates just the ignorance we have on how something as simple as properly removing snow can make life that much harder for our neighbors.

  • In a countermeasure to structural violence, Wisconsin Governor Scott Walker was inspired to announce a new initiative to increase employment and the quality of employment for individuals with disabilities after meeting Andrew Young, a young man with Down syndrome, who excelled at his job:

The governor plans to highlight employers and organizations that help people with disabilities find work, in part by talking about the issue during stump speeches around the state. He also is ordering state agencies to focus on building, recognizing and promoting public and private programs and organizations that improve employment opportunities for those workers.

  •  Mount St. Mary’s University provides training to Frederick County deputies on how to interact with individuals with intellectual and developmental disabilities (I/DD) in the wake of the death last year of Ethan Saylor at the hands of Frederick County off-duty police officers. While the training emphasizes all individuals, including those with I/DD can be culpable of criminal acts, the instructor applies the universality principle to dealing with individuals with I/DD:

Powell, who at times also conducts the training, said he often gives this simple advice: If it were my child, how would I respond?

  • President Obama removes a long-time barrier to quality employment. In the State of the Union he announced his commitment to raising the minimum wage and said he would implement that through his authority over federal contracts. But, initially, the measure would not have changed the ability of employers to pay those with disabilities sub-minimum wage rates. Advocates called for full inclusion, and President Obama responded by including workers with disabilities within the executive order requiring payment of the increased minimum wage to all employees under federal contracts:

“Under current law, workers whose productivity is affected because of their disabilities may be paid less than the wage paid to others doing the same job under certain specialized certificate programs,” according to a White House memo detailing the order. “Under this Executive Order, all individuals working under service or concessions contracts with the federal government will be covered by the same $10.10 per hour minimum wage protections.”

  • Rep. Cathy McMorris Rodgers gave the Republican response to the State of the Union, recalling how when her doctors delivered the diagnosis that her son had Down syndrome, all they shared were the negatives. Amy Julia Becker calls on members from all political leanings to instead see reasons why families of all political persuasions welcome a child with Down syndrome, and perhaps how that may increase inclusion of these individuals throughout society. (And, thanks to Amy Julia for the link to this blog in her column).

2/3/14

  • Duke University is conducting a study. Your participation could improve the patient prenatal testing experience. You can participate by clicking on this link. More from the invitation:

If you or your partner recently received a prenatal diagnosis of Down syndrome (DS), you have an opportunity to share your story here. Kathryn B. Sheets, MS, CGC and Blythe G. Crissman, MS, CGC are genetic counselors at Duke University Medical Center in Durham, North Carolina who are conducting a study to better understand patients’ experiences with prenatal diagnosis and making decisions for the pregnancy. Participation will improve our knowledge and help us to provide appropriate information, resources, and support to individuals in similar situations. Sharing your journey could benefit other individuals or couples going through a similar experience in the future. Participation in this study involves completing an anonymous, web-based questionnaire”.

  • Amy Julia Becker writes on new ultrasound technology offering HD resolution, and how she wished she had the wisdom gained from having her daughter with Down syndrome, when she first viewed her on ultrasound:

Our daughter Penny was diagnosed with Down syndrome at birth, and at first I felt anger at the ultrasound technicians who had seen her along the way. But later I realized they had done their job—Penny had no anatomical concerns that needed medical intervention. She was a healthy baby, just as the images had suggested. But I had allowed those images to suggest that our baby was under our control, created in our own image. I wish that instead I had understood our daughter as a gift coming from God for us to receive with gratitude and wonder.

  • A mom creates an online support group for parents whose only child also has Down syndrome, because, as she says, “None of us should ever feel alone.”

1/31/14

  •  The law allows employers to pay individuals with intellectual disabilities less than the minimum wage. And, this CEO says that’s just right, because:

Bee: “Paint me a picture of a person whose work would be worth $2 an hour.”
Schiff: “You know somebody who might be? Maybe somebody who is, uh, you know, what’s the politically correct word? Uh, you know, uh, for, uh, you know, mentally retarded?”
Bee: […]
Schiff, later on: “I’m not going to say that we’re all created equal… you’re worth what you’re worth.”

  • NBC reports on Goodwill as an example of the low wages paid in sheltered workshops, with some workers receiving only $0.22/hour.
  • Unfortunately, President Obama’s wage increase for federal contractors does not include those with disabilities. The National Council on Disabilities calls for all workers to be paid at least the minimum wage.
  • In some states, it can be required that individuals who work with children must have a background check, but not for those who work with the disabled, allowing abusers to go from job to job. Kentucky lawmakers are trying to change that.
  • In England, parents want answers for why their 4-year old with Down syndrome collapsed and died while in foster care.

1/29/14

  • Rep. Cathy McMorris Rodgers gave a well-received response to President Obama’s State of the Union address. Putting politics aside, the section quoted below was an important perspective to share about Down syndrome in a national address that the nation needs to hear:

Three days after we gave birth to our son, Cole, we got news no parent expects.
Cole was diagnosed with Down syndrome.
The doctors told us he could have endless complications, heart defects, even early Alzheimer’s.
They told us all the problems.
But when we looked at our son, we saw only possibilities.
We saw a gift from God.
Today we see a 6-year old boy who dances to Bruce Springsteen; who reads above grade level; and who is the best big brother in the world.
We see all the things he can do, not those he can’t.
Cole, and his sisters, Grace and Brynn, have only made me more determined to see the potential in every human life – that whether we are born with an extra twenty-first chromosome or without a dollar to our name – we are not defined by our limits, but by our potential.

  • Chelsea Football Club launches football team aimed specifically for individuals with Down syndrome.
  • Almost 3-year old daughter with Down syndrome impressively identifies the Presidents, even by just the tops of their heads. Her mom is wanting to get her on Ellen to see how well she does against the audience. My money’s on her.
  • An Irish cartoon starring a young girl with Down syndrome is voiced by a young woman with Down syndrome.
  • The Producer for the film Produce announces a test screening of the film, which only wrapped a few months ago; it stars a local Louisivllian who has Down syndrome.
  • An image that conveys the point of this post (HT: to Lose the Label FB page, where you can see more images like this one):

lose the label ada

1/28/14

  • Rep. Cathy McMorris Rodgers will give the Republican response to tonight’s State of the Union. Yesterday, she highlighted the need for the ABLE Act to be passed, which will allow for greater economic independence for those with disabilities, like her own son with Down syndrome.
  • A mom who adopted her son with Down syndrome upends the perspective  of viewing Down syndrome as something that is unexpected: what about the perspective of the child not expecting this to be the world he or she was born into? As she writes:

    Our son exists in the world in spite of how someone else feels about him. That goes for all people with Down syndrome.

    That goes for all people, period.

1/27/14

  • 140124150445-mcmorris-rodgers-instagram-sotu-story-topRepresentative Cathy McMorris Rodgers, co-chair of the Congressional Down Syndrome Caucus, will give the Republican response to the State of the Union address. This video and this article feature her and her being a mom to a son with Down syndrome.
  • Video  of Grand Rounds presentation by Dr. Brian Skotko, Co-Director of the Down Syndrome Program, Massachusetts General Hospital on updated health care guidelines for individuals with Down syndrome.
  • A St. Louis OB pens a column about the new prenatal testing saying “The test detects ‘bits’ of DNA from the baby that are in the maternal blood circulation” and that it is “extremely accurate;” both contrary to the lessons learned since non-invasive prenatal screening was introduced.
  • A mom takes on Inspiraporn, declaring that her son with Down syndrome doesn’t have super powers because of the extra chromosome.
  • A panel of parents who are also authors present tonight at Columbia University on “Parenting, Narrative, and Our Genetic Futures.” One of the speakers has a post today about being in NYC.

1/24/14

  • Kelle Hampton celebrates her daughter turning four:

I’ve trained to be a Ninja Warrior against Future Fear, knowing that with every challenge we’ll ever be given in life, our job will never require more of us than to face one day at a time. Thinking about all the what-ifs for Nella at once—if she’ll be accepted, if she’ll get made fun of, if she’ll be sad or feel different, if she’ll be healthy, if she’ll find employment, if she’ll be taken care of after we’re gone—can feel like having the wind knocked out of me. But I’ll never have to face all of those things ever at once, so why worry about them all at once. One day at a time. We have more than what it takes to love and support our children for just today. And I can wake up and say that again tomorrow and the next day and the next day after that.

  • A mom attends a book club reading Expecting Adam, and listens as the attendees predict whether they would terminate after a prenatal Down syndrome diagnosis, even after she tells them her daughter has Down syndrome.
  • A mom describes finding out that her son has not only Down syndrome, but a serious heart condition, in a very wonderful way:

We had expected this to be the case, since learning that Charles’ particular defect was so common in children with Down syndrome, but it was another blow to us.  So much “bad” news about a kid who would, over the next 15 years, enrich our lives beyond measure.  But we didn’t know that, yet.

* * *

When he arrived at 10:10 am, he weighed seven pounds, ten ounces and was, on the surface, a chunky, healthy, beautiful little guy.  I had never been more happy to meet another human being in my life.  After all the negative we had heard about him, finally, FINALLY, here he was and I could see that he was our gorgeous baby, nothing more or less.

Greg likes people for themselves, just as they are. Each one of his classmates was important to him. That’s what the other students were responding to. Everyone wants to be loved that way.

  •  A mom shares how a “bless your heart” sentiment actually misses out on a more important conversation:

I’m like a normal person. In fact, I am a normal person. And so is my daughter. She’s not a burden. She’s a child, offering the same kinds of joys and irritations that any child offers. Because she has Down syndrome, she and I do experience some different challenges. In some ways I do more work than the parents of typical kids (assuming that the typical kids don’t dramatically resist sleep, bully their friends, end up in juvenile detention, have some medical condition, etc. — stuff that of course we can’t predict). When you have a kid with Down syndrome, you have to do early intervention therapies. You have to become an advocate in the school system. You have to work to teach the child things that are intuitively obvious to lots of other kids, or that other kids can hear once and incorporate into their repertoires.

But this doesn’t require blessing my heart. A more interesting conversation would be if they asked me if Maybelle’s in preschool (yes), or if I have a job (yes), or how much she likes dance class (a powerful, intense yes). They could challenge their own lack of knowledge, and I’m happy to share what our lives are like.

At the parents’ gathering, I said to the other mother, “It’s actually not that hard to raise Maybelle. She’s a pretty easy kid to be around. I have a good time with her. Down syndrome isn’t as bad as you think.”

“Huh,” she said. “I wouldn’t have guessed that.”

1/23/14

  • With the recent anniversary of Roe v. Wade, and with abortion inextricably intertwined in the discussion of prenatal testing, here’s a post of mine from another site. Regarding abortion and prenatal testing for Down syndrome, it has been shown most women will still seek termination even where abortion is outlawed. Therefore, the political arguments of whether abortion should be allowed (“pro-choice”) or outlawed (“pro-life”) are not the ones to effect the change needed for ethically administering prenatal testing. The column explains this further and details the change that is needed.

1/22/14

  • British Department of Health launches investigation into sex-selective abortions after 2011 Census report:

    The analysis of families registered on the census revealed that the practice of aborting females following an ultrasound scan to determine sex is likely to account for the “disappearance” of between 1,400 and 4,700 girls among the communities where gender-based abortions appear to be prevalent.

    Policy changes being considered include withholding gender information during pregnancy. The paradox of prenatal testing for sex being roundly seen as improper where it allows for selective abortion while prenatal testing for Down syndrome is recommended precisely because it results in more selective abortions persists.  

  • New study from Britain reports increased uptake for NIPS can be expected, with those who would decline conventional screening saying they would have NIPS and some of those would terminate following a positive result; similar percentage say they would not terminate.
  • A mom wonders “Why are we afraid of Down syndrome?” recounting how she is in her fourth pregnancy and her second child having Down syndrome:

    Prenatal tests are pushed with urgency as preventative measures like Tdap vaccines and flu shots. I was asked four visits in a row if I was “sure” I didn’t want prenatal testing: after all, I could be having a baby who has Down syndrome.

    Her answer to the question: “the number one reason I was so afraid of Down syndrome when Kate was born is because I had never been exposed to it.”

  • A commentator in Japan says “now is the time to address problems in non-invasive prenatal testing,” where the termination rate is reported as 98% following a positive NIPT result for Down syndrome. The writer expresses her concern about the stigmatizing effect NIPT poses:

I fear that the continued spread of NIPT under the current circumstances will ultimately encourage the selection of certain lives over others, reinforcing a social climate in which bearing and raising children with disabilities is extremely difficult.

  • One mom’s tweet: “Didn’t you have prenatal testing? You could have done something about it.” #abledpeoplesay #Downsyndrome”
  • Non-invasive prenatal testing market “set for explosive growth” over next 5 years.
  • New patient pretest pamphlet on prenatal testing receives recognition from National Society for Genetic Counselors.
  • FDA approves new postnatal test for intellectual and developmental disabilities due to chromosomal conditions. No NIPS lab has received FDA approval for non-invasive prenatal screening.

1/21/14

  • On Martin Luther King, Jr. day, an on-line post opines on what the writer believes Dr. King actually did: end racial terrorism against African-Americans in the United States, particularly the South. How did Dr. King do this? By teaching African-Americans to not be afraid; to take the beatings that followed civil disobedience; and, realize, that after they had taken the worst, the worst wasn’t as bad as they had feared.
  • Teenager with Down syndrome wins photo contest for those with disabilities for photograph of him with this landscape photos (and a pretty awesome t-shirt). Says his mom:

The competition had an important message – that everyone, no matter what their disability, has the right to live their life and work towards their goals without limiting aspirations.

  • A Jamaican mom describes the ICU nurses who cared for her baby boy with Down syndrome as “angels” and that turning him over to the medical staff for a second heart surgery, “felt like I was leaving him with family.” Now, after successful surgeries and recovery, she says about her son: “A more active child you can’t find.”

1/17/14

  • Book scholarships available for small Down syndrome support groups. The resource for patients receiving a positive prenatal result for Down syndrome, Lettercase’s Understanding a Down Syndrome Diagnosis, is being offered in bundles with Delivering a Down Syndrome Diagnosis for groups who apply. The application process is simple, with the first ten that qualify receiving the scholarships. To learn more and apply, visit this link.
  • Carrollton, Kentucky couple plead guilty to neglect and abuse charges of their daughter who had Down syndrome. The couple kept her locked in two rooms in their home, while using public aid money meant for her on their own expenses. The young woman is estimated to have lost almost 100 lbs, being found weighing only 86 lbs. Husband faces 10 years in prison and the wife 5 years. There are bioethicists (and others) who would argue that the parents could have even killed her and not been morally wrong as they do not view people with Down syndrome as moral persons. In the eyes of the law, she is and the bioethical principle of justice will be served by incarcerating these parents for their crime.
  • A father, Bret Bowerman, shares how their geneticist immediately imposed a ceiling on how high they should set the expectations for their newborn daughter with Down syndrome; ignoring this medical advice, Bowerman now hopes to see his daughter go as high as to the moon.
  • Minnesotan high schooler wrestles a student with Down syndrome at a wrestling meet, giving the other student a win, but making him earn it.

1/16/14

  • Middle school track teammates Drew and Jack  honored with award for sportsmanship. Jack has Down syndrome and Drew, who does not, ran alongside Jack at each meet during the year. At the last meet, Drew worked with the other runners so that Jack could have the experience of winning a race. One of the award committee judges, Olympic Skier, and mom to four, Picabo Street said:

The message it sends to other 14-year-olds, the message it sends to my 10-year-old is that Drew saw it as more important to help Jack. He said he wanted him to experience winning. I watched my 10-year-old think hard and scratch his head about that one and say, ‘would I have done the same thing.’ That’s what is moving to me about all these winning moments and about this program

My memories of middle school would not suggest this level of inclusion and empathy among students. Perhaps there’s hope if this is now happening in the middle schools of today.

1/15/14

  • In “The 1,000 Miles of Luca,” a short film featuring the Rolling Stones’ song “Happy,” a father describes his evolution in appreciating his son after the diagnosis that his son has Down syndrome. From the film:

Everything seemed to have gone wrong. It was as if the road we had started as a family had come to an end. Little by little, the Down syndrome disappeared and Luca appeared. We realized that it wasn’t really a problem. It wasn’t a serious problem, nor was it a problem at all. We just had to get used to something different.

1/14/14

  • Former Iowa Hawkeye defensive coordinator, Norm Parker, died yesterday. One of his former players, Matt Bowen, shares how some of Parker’s best coaching happened off the field:

    Not many fathers have to fall back in love with their kids. I did. And I am man enough to admit that I struggled with Matthew’s [Down syndrome] diagnosis to a point where I didn’t know what to do.

    Norm changed that.

    He described his relationship with his late son, Jeffery. The same diagnosis as my boy and a life that he lived which my coach will always cherish.

    My viewpoint as a father changed that day because of Norm. He brought me out of the darkest place I had been as an adult and showed me the beauty in having a child with special needs.

    My wife and I took Matthew up to the team hotel that following season when the Hawks were preparing to play Northwestern. Introducing my boy to Norm that night is still one of the proudest moments of my life. To see the true joy he had in seeing my son is something you can’t buy in a store. It is real.

  • The Association of University Centers on Disabilities (AUCD) features new resources for expectant mothers (also featured on the Prenatal Resources page).
  • Amy Julia Becker wonders why in an age of increasing prenatal testing and selective abortions for Down syndrome there is a corresponding increase in the number of “good stories” shared about living a life with Down syndrome.
  • A mom shares her tips on what to say in a postnatal setting to new parents who have received a Down syndrome diagnosis. Interesting personal stories shared in the comments.

1/13/14

  • A mom receives a postnatal diagnosis 13 weeks after her daughter is born. She learns:

Yes she has an extra chromosome, but she’s exactly how she’s meant to be.

  • A mom is told her daughter, born with Down syndrome and legally blind, is “nothing but a vegetable;” sees her daughter attend school, get a job, and retire after over 20 years of service.
  • A father writes about the Ethan Saylor case, detailing effective training programs around the country for first responders on how to work with individuals with intellectual or developmental disabilities. Unfortunately, in each case, measures are taken after a tragedy occurs.
  • The Catholic World Report has an extensive article on Down syndrome and prenatal testing. One father’s quote on is initial disappointment following the diagnosis in expecting that his son would not play football:

Our dream for the child didn’t come true, but it [was] not the child’s dream. It’s our dream. Every child has the right to live his own life

  • Sequenom: just misses yearly goal of 150,000 tests in 2013. Plans new platform to lower cost and make MaterniT21 available by end of 2014, when it also expects to have positive cash flow. (free registration required to view full article). Total revenue almost 80+% more than 2012. Insurance coverage for test for potentially 113 million, with 8 states reimbursing through Medicaid.

1/12/14

  • A disability bigot makes his first friend with Down syndrome through mixed-martial arts training. He also happens to have Down syndrome.

1/10/14

  • Maryland commission led by Tim Shriver issues initial findings of inconsistent training of police officers and first responders on interacting with individuals with intellectual and developmental disabilities; makes initial recommendations and outlines next steps. The commission was empaneled in the wake of the homicide of Ethan Saylor, a man with Down syndrome, by off-duty police officers and issued its report on what would have been Saylor’s 27th birthday.  Full report here.

1/8/14

  • A couple get engaged and a proud father thanks all who took the time to see his daughter, not just look at her.
  • One of Amy Julia Becker’s favorite columns of 2013: The Social Construction of Selective Abortion. Something I’ve written about here and here. (Lots of eugenically-minded folks posted comments to Becker’s piece).
  • Mom starts centers to welcome families with children with Down syndrome; scheduled to open 21st one this year. Profiled by NBC’s “Making a Difference” (but Natalie Morales’ intro misses the point of the story).

1/6/14

  • STW-Partners-Un-Dated-DarkHere’s a resolution we all can keep: stop using the “r-word“.
  • A news report of a break-in where the cowardly thieves took an iPad that a 6-year old with Down syndrome used as a communication aid results in a father of twin boys with Down syndrome delivering an iPad to the family.

1/3/14

  • Rion Holcombe, the newest Clemson Tiger whose YouTube video reacting to his acceptance letter has over 1.7 million views, gets invited to the Orange Bowl to see his Tigers take on the Ohio State Buckeyes.
  • Three different personal genetic tests for the same woman return three different results.
  • Award-winning photo portfolio shows bond of mom with daughter with Down syndrome.
  • A new mom has the unexpected opportunity to counsel an expectant mom who just found out her child has Down syndrome.

12/26/13

  • UC San Diego starts new research on Alzheimer’s and brain development in individuals with Down syndrome.
  • A dad considers “What is Down syndrome?” and whether it really is just a label, that serves to deny the person who is labeled the identity of being a full person like everyone else.
  • Another dad explains how Down syndrome is a like a lamb with a bucket on its foot. The explanation is not what the analogy suggests.
  • The New York Times reviews a new memoir from a mom, Rachel Adams, and shares some examples of what to do when delivering the diagnosis and caring for mother and child.
  • Moms share how whether they “see” Down syndrome when they look at their children. Dr. Skotko shares from his experience of caring for many families with children with Down syndrome:

Not uncommonly, new parents sometimes don’t begin to notice the features of Down syndrome until well after the birth of their child. … This is not to say that the features were not always there, they just were not important. Parents noticed their baby first. Their miracles. Their celebrations.

12/19/13

  • Buzzfeed features a video of Rion Holcombe getting accepted to Clemson University; Rion also happens to have Down syndrome.
  • One mother who had a prenatal diagnosis of Down syndrome shares about the importance of speaking with a fellow parent to find out what life can be like with a child with Down syndrome:

No matter how private of a person you are,” Alice says, “at some point, you will benefit from talking to someone that has been in your shoes, and the [Parents] First Call Program is a great resource if you don’t have someone in your personal life that has been where you are to reach out to.

The materials approved and recommended by medical guidelines and directories of local parent organizations can be found at the Prenatal Resources page.

  • One of the most compassionate missions, National Down Syndrome Adoption Network, links up with another organization that provides heart survey for needy newborns to find an adoptive family for a patient in Macedonia. With this success, In this season of giving, consider supporting the NDSAN by donating at this link. Even if it’s only $21.

12/17/13

  • Jeanne Lawrence, the researcher who “turned off” Down syndrome, is interviewed in Northeastern University’s Profiles in Innovation. At around the 45:00 minute mark, an attendee whose sister has Down syndrome expresses concern over the potential for Lawrence’s research to fundamentally change who her sister is. Lawrence reiterates that she does not see her research as being a “cure” but a possible treatment for certain impacts of the extra 21st Chromosome, such as in developing plaques in the brain associated with Alzheimer’s and certain heart malformations. However, at least in an IVF cycle, it is unclear why her research couldn’t be applied to silencing the extra 21st Chromosomes in those early embryonic cells such that the extra 21st Chromosome would be “turned off” in all cells as those early cells split and multiply, particularly since Lawrence says the optimal time for “turning off” the 21st Chromosome would be early in the embryonic cell (around the 41:00 minute mark).

  • Author, blogger, mother Amy Julia Becker recounts an exchange with another mother who sees Becker’s oldest child with Down syndrome and says,

I come from a medical perspective, so I don’t know that I could have handled it.

Becker wonders “Can you see my daughter?” A poignant insight in how, for many, children with Down syndrome cannot be seen as unique individuals, but just the medical diagnosis. Another example of the reductive nature of labeling.

Natera Personal Tragedy

If anyone wonders, feel free to ask how Natera’s NIPS test Panorama would have prevented the family member’s personal tragedy.

12/13/13

  • The Punk Syndrome is a documentary of a Finnish punk rock band whose members have intellectual or developmental delay, including one that has Down syndrome. From the blurb about the film:

Apart from the issues related to their disabilities, this is an entirely familiar behind-the-scenes portrait of a rock band, whose members transcend their personal problems when they play and have a modest talent for expressing badass attitude with loud riffs and a steady beat. That makes them like a lot of other rock bands out there, which, presumably, is the point.

  • Bus driver admits to assaulting rider with Down syndrome. That the punishment required that he not work with individuals with disabilities seemed a counterintuitive way of learning how to respect individuals with disabilities, until the article further relayed that the driver was driving a bus specifically for servicing individuals with disabilities; had already been fired for leaving the riders on the bus, while it was running, so he could run in and get donuts; made sexual remarks about female riders’ bodies; and, had previously been arrested for indecent exposure.
  • See that quote below of Nelson Mandela’s on the vast discrimination against the disabled? At Mandela’s memorial service, the sign language interpreter for the hearing impaired was a fraud, simply making up hand gestures.
  • A mom tells her son how he has a superpower called “Down syndrome” which not everyone can see as a superpower, and repeats a common view that

Daddy and I always wish we were better parents, but we never wish you didn’t have your Down syndrome super powers.

* * *

My husband and I do not see Down syndrome as a defining characteristic, but one of many our son embodies.

12/12/13

  • Memphis Grizzly Zach Randolph sees a young fan with Down syndrome. When the fan asks for his warm-up pullover, Randolph gives him the shirt off his back.
  • Penn State basketball manager, Patrick Northup-Moore, inspires the team. Assistant Head Coach Daly explains:

He really embodies what we want to be,” Daly said. “We want our guys not to see obstacles in front of them. We want them to see opportunities. And I think Patrick is a great example of that…There are huge messages when you’re dealing with 18- to 23-year-old kids that you do what’s asked of you, you do it in the best of your ability, and you’re proud of the job you do. And I think that he embodies all of those things.

  • A video from a few years ago, but a lesson still to be watched: how some people react (and many others don’t) to injustice against individuals with Down syndrome happening right in front of them.
  • A mom, prompted by this post, prescribes the cure for the normative effects of prenatal genetic testing through care theory–but does so with frank talk.

12/10/13

  • Ariosa offers NIPS test, Harmony, to 40,000 women and expands to more than 50 countries.
  • Natera, maker of NIPS test Panorama, has a drag-and-drop webpage for you to compare Panorama’s accuracy with other prenatal tests (or that’s what the webpage says it does, but digging into the actual studies would be needed to show how much of an apples-to-apples comparison is represented versus an apples-to-oranges).
  • The Institutes of Medicine (IOM), the organization that prescribed what preventative care services for women were to be provided under PPACA at no-cost, announced 70 new members, including Diana Bianchi, with Verinata, and Mary D’Alton, associated with the nuchal translucency screen. No new member is listed as a bioethicist.
  • Prenatal testing for Denmark was introduced in 2006 when, then, 60 babies with Down syndrome were born. In 2012, only 23 babies were born, and of those, only 3 had had a prenatal diagnosis. Mario Wezel, a photographer, documented a 5 year-old girl with Down syndrome and her family in the hopes of building empathy. Wezel observed:

These days, we are really not used to acting like that with a stranger. But due to her disability, Emmy is incredibly open towards strangers and very warm-hearted. … She gives so much without asking something in return. This way of seeing the world gave me so much.”

  • Kathryn Lariviere and genetic counselor Campbell Brasington are interviewed by WFAE in Charlotte about Down syndrome and available supports for families.

12/6/13

  • Nelson Mandela Eunice Kennedy Shriver Boy with DSOn December 5, 2013, Nelson Mandela died. He lived a remarkable life. From iBelong’s Facebook page, I found the last paragraph of this quote and image of his that are relevant to the purposes of this blog:

We have tried to give special emphasis to the rights of people living with disability. It is so easy to think of equality demands with reference primarily to race, colour, religion and gender; and to forget, or to relegate to secondary importance, the vast discrimination against disabled persons.

We cannot claim to reached anywhere near to where a society should be in terms of practical equality of the disabled. We continue to try. We realise that legislation and regulations are not sufficient or the end of the long walk to equality and non-discrimination. Education, raising of awareness, conscientisation, eradication of stigmatisation: these are key elements in achieving non-discrimination against the disabled in practice and in their everyday lives.

A democracy is an order of social equality and non-discrimination. Our compatriots who are disabled challenge us in a very special way to manifest in real life those values of democracy.

It is not a question of patronizing philanthropy towards disabled people. They do not need the patronage of the non-disabled. It is not for them to adapt to the dominant and dominating world of the so-called non-disabled. It is for us to adapt our understanding of a common humanity; to learn of the richness of how human life is diverse; to recognize the presence of disability in our human midst as an enrichment of our diversity.

Mandela delivered these remarks at “The Conference for the Disabled” in 2004. Nelson Mandela, RIP.

  • Hillsborough County Florida School District will pay Jennifer Caballero’s family $500,000 in a legal settlement for her drowning while at middle school; Jennifer had Down syndrome. The same school district is in a federal lawsuit for another death of a student with special needs, who died while on a school bus, but 911 was never called by the aide or bus driver.
  • Nichelle Nichols, Lieutenant Uhura from Star Trek, surprises with who was one of the biggest Trekkies and how that person emphasized the importance of pop culture in changing people’s attitudes to make them more inclusive and provide a vision for other’s dreams. Why TV shows like Life Goes On and characters like Becky on Glee, and movies like Produce, are so important.

12/3/13

  • After 23andMe receives a warning letter from the FDA, it ceases marketing its test.
  • But not before 23andMe is sued in a class action lawsuit.
  • The lawsuit against 23andMe alleges its test results are “meaningless.”

11/26/13

  • 60 Minutes profiles author Malcolm Gladwell, featuring a CEO who explains how he cultivated new skills because of having a learning a disability, not in spite of it.
  • david desanctis produce cj nov 2013A film featuring an actor with Down syndrome (who happens to be a member of my local organization) wraps shooting in Louisville, Kentucky. His co-star Chris Polaha says that working with his cast mate has caused him to “put aside every preconceived notion I ever had about people with Down syndrome, and kind of shelve them. That kid is really smart.”
  • Nicole Scherzinger, former Pussycat Doll and Louisvillian, now X-Factor judge and Global Ambassador for Special Olympics. Scherzinger has an aunt with Down syndrome, who “is such a positive influence and inspiration for me.”

11/25/13

  • Megan Squire’s school didn’t win the Katy Perry video award for “Roar,” but the cheerleader with Down syndrome was Perry’s guest for the American Music Awards.
  • Mom posts picture of daughter with Down syndrome on first day of junior high wearing Wet Seal gear; daughter becomes model for Wet Seal gear.
  • Emmy in DenmarkPhoto-essayist documents family in Denmark with daughter with Down syndrome, where the rate of live births has been reduced to about a third of its historical average in just seven years.
  • The FDA sends 23andme a harshly-worded letter accusing it of misleading consumers that could result in lethal self-treatment.

11/22/13

  • High schooler with Down syndrome, while performing a song by Darius Rucker at the school’s talent show, is joined on-stage by … Darius Rucker.
  • Two moms feature the National Down Syndrome Adoption Network (which I profiled in this post).
  • Long-distance runner Andrew Lemoncello learns lessons from his daughter born with Down syndrome:

It’s definitely inspired me. She’s such a hard-working baby. We have physical therapy with her every week and just seeing her develop, reach new milestones, it’s incredible to watch. When I’m in a race or a hard workout, I’m thinking ‘my baby’s working a lot harder than I am. I’m just out here running’. I always keep that in my mind.

11/14/13

  • Produce-photo-Tom-LeGoff-2013-004Article on movie being filmed in my hometown starring a member of our local Down syndrome organization. The Producer relays what parents say about having a child with Down syndrome:

The quote – or sentiment I guess – that we get over and over from parents with children with Down syndrome is ‘my son or daughter has made me a better person.’ Not a better father or mother but a better person. And I hope there is always room for this idea in the cultural zeitgeist.

11/13/13

  • Autism speaksIn the discussion on a “cure” for Down syndrome and considering whether disability should be conserved, the latest news concerning Autism Speaks provides some insight by comparison.Autism Speaks co-founder Suzanne Wright issued a call for a national plan of action. In it she wrote how children with autism are comparable to children who have “disappeared,” or fell gravely ill and how we are in the midst of an “autism crisis.” She says

These families are not living.

They are existing. Breathing – yes.  Eating – yes. Sleeping- maybe.  Working- most definitely – 24/7.

This is autism.

In response, John Elder Robison, a member of Autism Speaks’ Science and Treatment Boards, who also happens to have Asperger syndrome, publicly shared his letter of resignation. The opening paragraph:

I have tried to help Autism Speaks staffers understand how destructive its messages have been to the psyches of autistic people.  We do not like hearing that we are defective or diseased.  We do not like hearing that we are part of an epidemic.  We are not problems for our parents or society, or genes to be eliminated. We are people.

Read the whole thing, as the saying goes on the internet. Mr. Robison’s remarks are worth keeping in mind when discussing cures for Down syndrome.

    • Regarding potential cures or treatments, here’s a report on a study that found cognition improved in some children with Down syndrome whose moms took the nutrient choline while pregnant. The researchers suggest supplementing with choline during pregnancy may ultimately be advisable for all pregnant moms, not only those expecting a baby with Down syndrome. This is merely suggested at this point, because the study was of mice … where the pregnant moms also had been genetically engineered to have characteristics of Down syndrome, not just their offspring.
    • Physicians in a separate report on the possible treatments and “cures” for Down syndrome caution:

There is a dangerous aspect to taking information about research in its formative stage and expanding it with the word ‘cure.’

  • DS marriageSpeaking of “we are people,” here’s a news story and accompanying photo of two people joining the ranks of couples who are married. They also happen to have Down syndrome, but the article does not make mention of that, which, in and of itself, makes the article remarkable.

11/12/13

  • Savannah Guthrie featured her Uncle Pierce in the TODAY Show’s #Inspiredby series. Her uncle was born in 1933 and lived into his 60’s, due to the love and support he received from his trendsetting parents, who bucked the recommendation to institutionalize Pierce and instead raise him like they did their other children. Guthrie said in the piece:

Advocacy matters so that people understand what this condition is and aren’t afraid. … When you look at what people with Down syndrome are doing now living on their own, having jobs, having families, having relationships, it takes your breath away.

  • How one mom and her blog changed the mind of a New York Times columnist and best selling author on his use of the “R-word.” His is an example of how an apology should be given, and he backs up his words of contrition with the good deed of making a significant donation.
  • BillwattersoncomicThe wisdom of Bill Watterson, cartoonist who drew “Calvin & Hobbes.” Not directly related to Down syndrome, but his central message is worth remembering when the fear, doubt, and isolation sets in with a prenatal diagnosis: create your life, not the one others tell you to have.

11/11/13

  • A candid admission in the reporting about non-invasive prenatal testing, which is in clinical trials in the United Kingdom:

The outcome of the test will not be healthier children with Down syndrome, but fewer of them.

  • Katie Stoll, a genetic counselor who has addressed the issue of positive predictive value with NIPS, is interviewed by Medscape, discussing how to counsel patients about prenatal testing, what should be understood when receiving NIPS results, and how the provider community needs to work together as technology expands beyond the ability to provide useful knowledge to patients. A key paragraph on pre-test counseling:

It is critical that the clinician help the patient look ahead and consider what getting a positive result might feel like. How would they feel about finding out that they have a high probability of a chromosomal condition? How would they feel about the possibility of receiving results that are uncertain?

  • NIPS is introduced in the United Arab Emirates, where the incidence for Down syndrome is dramatically higher than in Western countries. The article attributes that to a higher-than-average maternal age, but it also reflects that Muslims are more likely to not pursue prenatal testing and less likely to terminate if they do. Note that Voldemort casts his shadow over this article, as it is never mentioned what patients would do next after receiving a positive diagnosis for Down syndrome.
  • Your tax dollars at work: the research that “turned off” Down syndrome was funded by an NIH special grant for long-shot ideas. Though the researchers assure this is not a cure, they are also moving forward to replicating their results in mouse models. Whenever I read reports like these, I wonder if they would be so excited if it was a different gene that was being turned off, particularly if ever the “gay gene” is identified.

11/6/13

  • Genetic counselor Katie Stoll writes about non-invasive prenatal screening and the threat to informed decision making, noting the significant percentage of terminations made following a positive NIPS result but without having confirmation through diagnostic testing.
  • In other, completely unrelated news, the California Prenatal Screening Program has added Verinata’s verifi, Arirosa’s Harmony, and Natera’s Panorama NIPS tests to its prenatal testing options.
  • ISPD newsletter is out. Items of note: though a marked increase in average maternal age in Europe, live-births of children with Down syndrome hold steady due to prenatal testing and selective terminations; in the UK, 54% fewer children born with Down syndrome than would be expected, but for prenatal testing.

11/5/13

  • According to the Taipei Times, new prenatal testing is reducing the ratio of live-born babies with Down syndrome to all pregnancies with Down syndrome from 70% in 1994 to just 5.99% in 2010. This means out of 100 pregnancies positive for Down syndrome, 70 resulted in a live-birth in 1994, but only 6 were live-births in 2010. The article does not say how exactly prenatal testing is causing this elimination of live-births, but it did relay that the Taiwan Society of Perinatology is “urging all pregnant women to undertake the recommended tests.”

11/1/13

10/30/13

  • John Swinton offers a way to reconsider what we consider “health” to inform the discussion on whether Down syndrome should be “cured.”
  • TIME magazine says “Doctors are rude” based on a new study from Johns Hopkins.
  • Discrimination leaps into the social media world with Instagram users posting photos and tagging them with “#downsyndrome” to mean they’re doing something stupid.

10/29/13

  • Malcolm Gladwell (who I have mentioned before) has a new book, David & Goliath, which discusses some counter-intuitive reasons to explain success. Note what he says about how some succeed because of their perceived disability, not in spite of it–a point made in the case for conserving disability.
  • David Perry comments on another case of police violence against a young man with Down syndrome.
  • In related news, Maryland’s commission to address police interaction with individuals with intellectual and developmental disability convened its first meeting.
  • Alison Piepmeier says she is skeptical about the possibility of curing Down syndrome:

As a culture we still feel quite comfortable seeing disability as something that should be eradicated. Many of us think this is an obvious, non-controversial claim:  “Of course we should get rid of disability if we can!” But I’d like us to be suspicious.

My daughter has Down syndrome, and I’m quite happy with her just the way she is.

10/21/13

10/18/13

  • A commentary in The Economist suggests humility, and increased integrity, is needed in the field of scientific research. A few reasons:
    • Fewer than 30% of results could be repeated in separate research projects;
    • 80,000 patients underwent clinical trials for research that was retracted for mistakes or improprieties
    • A study of peer-review found most reviewers failed to catch mistakes intentionally inserted, even though the reviewers knew they were being tested on their ability to catch mistakes
    •  The NIH grants $30,000,000,000 in scientific research, that’s $30 billion, which should be better invested in sound research.

10/16/13

  • The Saylor family has filed a civil lawsuit against the Regal movie theater, the property management company, the individuals police officers, and Frederick County for the death of their son, Ethan. Saylor, was asked to leave a movie theater because he had not bought a $12 ticket. Off-duty police officers acting as security guards physically removed him and in the struggle, Saylor went unresponsive, ultimately dying. The autoposy ruled it a homicide and found that his throat had been fractured. The law has a phrase called res ipsa loquitur, meaning the thing speaks for itself. A classic example is negligence being found where a passer-by on the street is hit on the head from a mattress falling out of a hotel window. Here a young man was killed over not buying a movie ticket. The thing speaks for itself. As such, and with 99% of all civil cases settling, this case very likely will settle as well. But, hopefully not before civil discovery reveals what training, or lack thereof, the officers involved had and what communications were made about Saylor after the event by public officials. The actual complaint can be reviewed here–it tells a chilling tale from that evening. Regrettably, it says that Saylor “suffered from Down syndrome.” He suffered that night, but it wasn’t from him having Down syndrome.
  • George Estreich, whose book I reviewed here, is the subject of a wonderful interview. As with so much of what Estreich expresses, there are many lines worth quoting. Given the focus of this blog, here’s the second-part of his answer about prenatal testing:

More important than whether the tests are used, I think, are how they are used: under what circumstances, with what reasons and with what kinds of message, explicit or implicit. If the test is offered and used in a way that genuinely supports the mother’s values and intentions, and if the information about the condition tested for is accurate, balanced and sensitive to human concerns, then I think the test has a better chance of benefiting the mother. If, as is often the case, the test is offered in a value-loaded way, and the condition it tests for is represented purely as a defect, then it is less likely to be helpful.

  • A mom of two with Down syndrome shares the wisdom with an expectant grandfather that people with Down syndrome are the same as everyone else: they’re different.
  • A mom with a two-year old who happens to have Down syndrome is expecting her fourth child. She writes about her experience during this pregnancy and how Down syndrome is discussed in a prenatal setting.
  • The Tennessean features a family raising their two children, one of whom has Down syndrome. The article also reports on prenatal testing. Leave a comment noting the corrections needed (as I have).
  • Principal who drug a student with Down syndrome by his feet across two door thresholds leaving cuts and abrasions has been charged with felony child abuse.
  • Some critical analysis of how to raise awareness during National Down Syndrome Awareness month at these links by authors and bloggers you should read, here, here, and here.

10/07/13

  • Student with Down syndrome dragged by principal through school, leaving bruises and abrasions.
  • Student with Down syndrome re-joins cheer squad after school officials initially said that she had to cheer from the stands.
  • Number 1 entry in Good Morning America/Katy Perry Roar video contest features cheerleader who happens to have Down syndrome.
  • When out and seeing a family with a child with Down syndrome, you are invited to ask, but ask if they don’t mind if you ask about Down syndrome.
  • An elected official seeks to bring transparency to public meetings. And he has Down syndrome.
  • The Ethan Saylor highlights the discrimination against those with intellectual disabilities even when they are victims of crime.
  • A mom, and board president of local Down syndrome organization, says “our best resource is our families.”

10/04/13

We assume that more information leads to more choices.  Having more information and more choices can only be good. * * * Declining information led to fewer, but better choices for us.

She poses an interesting option of offering whether to divulge a Down syndrome diagnosis in a postnatal setting.

  • Robert Rummel-Hudson writes of his daughter Schuyler and the need for a human advocacy where we construct a bigger table for all to be included:

Authentic human relationships. Friendships without pity and lacking power imbalance. Unconditional love, not the kind you might feel for a beloved, well-tended pet, but the kind of love built on mutual fascination. The kind that comes from real listening. This is the path to real advocacy. This is the real work, the kind where changing the world mostly involves changing ourselves.

  • The list of studies proving a basic truth keeps growing: if you take time to get to know someone you think of as “different,” guess what? You stop seeing them as different and the experience is not just mutually beneficial, but even benefits those that observe your act of getting to know the “other.”
  • Natera, the maker of panorama, has posted its webinar on “the importance of fetal fractions.”
  • Nicki Pombier Berger has shared her insightful interviews of Down syndrome self-advocates who talk about their lives and thoughts on life. They are worth listening to.
  • Homecoming queen candidate is “most looking forward to going out there and showing them what I’ve got.” It’s worth watching the video if only for the dress twirl and thumbs up.

09/27/13

  • A mom and dad share their story. Their OB counseled them “they only had so much time to make this decision,” after ultrasound markers were observed. After some challenges at their home church, their decision was to join a church with an inclusive ministry.

09/26/13

  • ABC News & ESPN E:60 feature story about Teddy the honorary bat boy (and now employee) with the Cincinnati Reds. Teddy also happens to have Down syndrome.

09/25/13

  • A mom wonders why her labor & delivery team looked so crestfallen when delivering the diagnosis to her that her newborn son has Down syndrome.
  • A “typical” mom asks for help on how to support moms of children with special needs, and admits to being a bit jealous of families with a loved one with Down syndrome.
  • Having a grandfather who was a field judge, this story of a boy with Down syndrome and his hunting dog resonated.
  • And, having wrestled in high school, I never thought a match would make others want to be better people. But this match did.

09/13/13

  • o-PAINTING-570Prince William & Princess Kate make an exception to accept painting from artist with Down syndrome as gift on the birth of their son, Prince George. Headline reads that act will battle stigma against Down syndrome.

09/06/13

  • NIH launches Down syndrome registry. What bad could come of the government tracking the number of lives with Down syndrome that report their (costly) medical conditions?
  • Kaiser half of all births medicaidHalf of all births are covered by Medicaid. Full study. Does your state’s Medicaid program cover prenatal testing? Genetic counseling? Provision of accurate, balanced educational resources?
  • The right to genetic ignorance. The right not to know everything about your or your children’s genes has kicked off a “row” with new guidance from the American College of Medical Genetics & Genomics.
  • Preliminary data for 2012 births show leveling off of decline in total births and slight rise in births to mothers over 30. Full CDC report.
  • Scientific enhancement–simply balancing the evolutionary scales. And, a rebuttal.
  • TODAY show features research between Alzheimer’s and Down syndrome. I knew almost all individuals with Down syndrome develop the plaques associated with Alzheimer’s, but I did not know only 50% will develop the symptoms of the disease.
  • NPR On Point features discussion between Prof Emily Oster and ACOG President Jeanne Conry on prenatal care recommendations.

09/05/13

  • Reeves’ team at Johns Hopkins reverses impact on brain in mice genetically engineered with some of the genes overexpressed in Down syndrome. Still no “silver bullet” for normalizing cognition in humans with Down syndrome.
  • How epigenetics may change the genes in your brain’s nerve cells to lock in memories.
  • How a famine impacted the genes of much-later generations in Överkalix.
  • Boston news feature on the research “turning off” the extra 21st Chromosome in Down syndrome, featuring interviews with researcher, Dr. Skotko, parents of children with Down syndrome, and an individual with Down syndrome.
  • Chinese doctor dedicates her career to Down syndrome research … to develop non-invasive prenatal testing … and developing testing for hearing impairment genes, too.
  • Conflict potential for genetic counselors employed by non-invasive prenatal screening labs.
  • Insurer will only pay for BRCA1/2 genetic testing after genetic counseling.

09/04/13

08/29/13

  • I expect most remember when Dolly, the Cloned Sheep, made news. Raise your hand if you knew that in 2003, scientists had cloned an extinct species in a process now referred to as de-extinction.  (and I’ll let you draw your own conclusions on why this may be relevant to this blog).
  • The folks at TED have collected a TEDx on the topic of deextinction where the first talk argues there is a moral imperative to bring back those lifeforms that man has caused to go extinct.
  • And, this week, one scientist argues for re-animation/deextinction of those kinds of lifeforms considered “keystone species” that we know appreciate as critical to the thriving of an ecosystem.
  • Huffington Post features article on Ethan Saylor homicide, and CNN posts an editorial from a father who notes that we are all just temporarily able-bodied and why that means we should all see disability rights as universal human rights.
  • “[T]he genetic testing that’s available for pregnancies has become phenomenally more advanced” and is causing anxiety in mothers even after their children are born apparently healthy.
  • Natera honored with award. CEO says, “Our goal from the start has been to provide expecting parents with the most accurate information possible about their fetus early in the pregnancy.”

08/27/13

  • This story of there possibly being still over 100 tribes that have not been contacted by the outside world reminded me of this earlier post discussing how we simply don’t know what may be lost if another part of the human family disappears.
  • A useful resource on “Teaching a Child with Down syndrome” for educators (and for parents).
  • Downsyndromepregnancy is asking for stories of support that particularly expectant mothers found helpful after learning of the diagnosis.
  • TODAY’s Nancy Snyderman has whole genome testing and 23andme, along with family. Snyderman says “more knowledge is more power” and 23andme CEO says company intended to be disruptive to medical practice and that “we’re in a brave new world.”
  • Culture of Life Foundation Fellow says turning off the 21st Chromosome would be therapeutic and can bring “God’s good order to their wounded genetic identity.“
  • A balanced news report on prenatal testing: shares information, but can cause anxiety, cannot detect every anomaly, and cannot say how the detected condition will impact the child.

08/26/13

At first, when we had our daughter, Grace Oluwafemi, whom we discovered has the Down syndrome, we contemplated getting ride [sic] of her or probably just give her away. In fact that was actually the way I felt at that moment because she was just like a reproach to me. Her physical appearance then was scaring, her head was slanting, she keeps bringing out mucus in her mouth and nose at all time.

Traditionally, I felt it was a curse on us, because it was like God had given us a dummy of a child, probably as a result of an evil we had committed. But my wife in her part insisted that she would never get ride [sic] of her and at a stage I almost abandoned her with the baby, thinking that she was actually the course of it all. But as time went on, I realised that I was being heartless and that I should try and be reasonable and at that point, I decided to have a change of mind

08/23/13

  • Back to school time: a young lady with Down syndrome provides an instructional video for teachers, entitled “Don’t Limit Me” and a mom writes a touching letter to her child’s kindergarten classmates on how her son is just like them, only different.
  • Sequenom’s stock “takes a beating” after 2Q reports and experiences its own population reduction, announcing lay-offs of 75 positions, or 13% of total workforce.
  • Nine Democratic Congressmen sign letter calling on FDA to issue draft guidance on regulating Laboratory Developed Tests (LDTs) (all NIPS labs are LDTs and currently not regulated by the FDA).
  • One mom’s discussion of standard IQ tests possibly being the wrong tool to arrive at the wrong measurement for intellectual disability with Down syndrome suggests another reason why some reevaluation may be needed before we “fix” Down syndrome.
  • The connection between Down syndrome and Alzheimer’s and how one may help solve the other.
  • Stories on adults with Down syndrome working in a restaurant and at a brewery(!).

08/21/13

If you’re having a problem with a bully you should tell them to stop bothering you and then ignore them. Don’t be afraid to get help.

  • ACOG issues committee opinion supporting marriage equality for same-sex couples on the basis that married couples have greater financial security and access to health care.
  • ACOG president’s blog post responds to challenges posed by Emily Osher in her book Expecting Better regarding eating sushi, drinking alcohol, and other standard advice given to expectant mothers. Representative quotes to justify ACOG’s more cautious advice that Osher challenges:

Given the risks, most patients don’t want to use their own child as a test subject.

Evidence first, but better safe than sorry.

  • It’s back to school time. A father’s son has a rough time, initially, and a mom offers a top 10 list on how to make the school year a success.

08/20/13

  • Dr. Brian Skotko, Alison Piepmeier, Stephanie Meredith, and other experts will be on Huffington Post Live today at 3 pm, EST talking about prenatal testing for Down syndrome. You can listen and participate at this link.
  • It’s back to school time. The Deaf Professionals Arts Network has a beautiful video using the White Stripes’ “We’re Going to Be Friends.” Check it out at this link.

08/19/13

  • Interview of Amy Julia Becker and her daughter with Down syndrome. When asked what makes her different than her friends, daughter notes that her friend has different colored hair.
  • Five books about the experience of having a child with Down syndrome that one mom/blogger found helpful (including Becker’s book).
  • Mother whose daughter has Down syndrome, writes children’s book, “Why are you looking at me? I just have Down syndrome.”
  • On prenatal testing, the Freakanomics of pregnancy says: “That’s something you need to learn to think through on your own.”
  • Ginger pride parade held in Scotland to counteract bullying. Ginger gene is now detectable by carrier testing.
  • A spiritually-infused take on the “Genetic ‘Fix’ for Down syndrome.”
  • Nepali mother becomes OB/Gyn, has son with Mosaic Down syndrome whom family calls “lucky child,” and starts Nepali national Down syndrome organization. Her view:

If every child matters, every child has the right to a good start in life. If every child matters, every child has the right to be included.

08/18/13

08/16/13

08/15/13

  • A mother raising a child with special needs provides a very helpful list of don’t’s and do’s on how to listen and comfort.
  • A helpful corollary to the list of do’s and don’t’s of comforting, knowing what circle you’re in so you know to comfort in and dump out.
  • An alignment of NIPS and CMA: Sequenom and Combimatrix, labs for non-invasive prenatal screening and chromosomal microarray analysis, announce a collaboration to

use their respective marketing channels and sales forces to promote the use of NIPT and CMA and work together to provide technical training to physicians and counseling, education and support services to physicians and their patients. The two companies plan to provide, when clinically appropriate, a comprehensive test result report for ordering physicians.

  • A doctor, bioethicist, and mother calls NIPS the “Holy Grail” and a “gift.”

08/12/13

  • Appellate court overrules trial court’s refusal of preliminary injunction, increasing chances that Sequenom will receive an injunction against Ariosa for patent infringement in the U.S. market.
  • In other (completely unrelated) news: Ariosa, a NIPS lab, will be part of Quebec’s PEGASUS Project to compare effectiveness of prenatal screening protocols, funded with $10M public dollars.
  • Teen with Down syndrome raped in Detroit: waits 7 hours for rape kit at hospital, 5 days to be interviewed by police, 21 days for kit to be sent to lab, by 23rd day with no arrest, community beats suspected rapist with a baseball bat sending him to the hospital.
  • Middle school boy bullied. When confronted, one of his abusers explained that he “had been taught not to play with retards.”
  • Genetic counselors be on the lookout for receiving written materials this week to provide your patients after a prenatal test result for Down syndrome, thanks to the generosity through these efforts.
  • 5 surprising things one mother has learned from raising a child with Down syndrome.

08/09/13

  • Down syndrome is not recognized as a disability by the Irish government.
  • Man with Down syndrome works as resource specialist at Duke hospital and attends UNC-Greensboro. His comments about those living with Down syndrome, “They need to be happy, not feel sad and making the parents sad – that isn’t good. But it’s a good thing to talk about how they feel from the heart.”
  • Man with Down syndrome graduates high school, having lettered in varsity in two sports, and befriends NBA player while holding golf tournaments around the nation.
  • Professor Lo, the one who started NIPS, to speak at Univ of Aukland August 26. Notice describes NIPS as safer for the fetus and less stressful for the mom. Correct?

08/06/13

  • An excellent, concise explanation of the scientific history behind the “turning off” of the 21st Chromosome and the many challenges remaining to move from petri dish to human gene treatment. Interesting that gene that turns off Down syndrome is “Xist,” which phonetically can sound like “exist,” yet it ceases a gene’s operations from existing.
  • A mom recognizes that treating her daughter’s Down syndrome may have far-ranging, unknowable ecological impacts, but she still would do it for her own daughter.
  • Six minute interview of scientists explaining how Down syndrome may hold key to treating Alzheimer’s.
  • I enjoyed serving on the board of Down Syndrome Affiliates in Action with David Egan. Here is a well-written profile of this impressive man–who made Al Franken laugh when in D.C. to testify before the Senate.
  • How much ya bench? This man puts up more than 400 lbs. And he has Down syndrome. Nice video with article.

08/05/13

  • The “cure” for Down syndrome, considered by this author (inaccurately) to be associated with “severe” intellectual disability, to eventually enter animal trials with the ultimate goal for human gene therapy.
  • Bev Beckham, appreciating her granddaughter’s ability to love and empathize, wonders about the news of a possible “cure” for Down syndrome, “Is this Down syndrome? Maybe. Maybe not. But if it is, why would we ever want to change it?
  • Prompted by the news of a possible “cure” for Down syndrome, a mom wonders whether she would accept such a cure if one existed for her son who has cerebral palsy. Her comments on the way CP makes her son move is something I’ve been thinking about in light of my daughter’s hypo-tonality due to having Down syndrome.
  • Jenny Hatch receives request for change in guardianship to fulfill her preferences for where she lives and works. Her attorney exulted after the ruling, “For anyone who has been told you can’t do something, you can’t make your own decisions, I give you Jenny Hatch – the rock that starts the avalanche.”
  • Program established for individuals with intellectual disabilities gain full-time employment. Young lady with Down syndrome completes program to work in hospital’s pathology lab and can’t wait to get to work “to work her socks off.” (Will she handle blood samples for NIPS testing)?
  • Barcelona soccer team wears jerseys with numbers and names designed by woman with Down syndrome.
  • Inclusion gone too far? Man with Down syndrome to fight man with cerebral palsy in MMA fight.

08/01/13

  • Article on Fox News website claims to answer what mothers over the age of 35 need to know about being pregnant, emphasizing a “big concern” about Down syndrome and role of prenatal testing. How many inaccuracies can you spot? And, did you notice the role of Voldemort?
  • Competitor in Ironman events raises funds for the National Down Syndrome Society because of his brother with Down syndrome, who the Ironman describes as “the strongest person” he knows.
  • The Massachusetts Down Syndrome Congress helpfully collects a current research studies looking for participants. Click the link here to see if you are interested in participating in these efforts to better understand and develop better methods for improving the lives of individuals with Down syndrome.
  • Canadian broadcast/podcast on “Silencing the Extra 21st Chromosome” features two moms and an individual with Down syndrome along with the researcher. 22 minutes.
  • The Executive Director for the Jerome Lejeune Foundation (USA) argues 3 reasons that should favor seeking a “cure” for Down syndrome.

07/31/13

  • Man with Down syndrome, has brain hemorrhage, still showcases his artwork. DS Art work 
  • When the world of Down syndrome advocacy intersects with advocates for bicycling, double discrimination results.
  • Sequenom reports 2Q results: ~$17M in expenses compared to same time period last year due to increasing infrastructure to manage growth (i.e. sales, marketing, etc. for tests); 74M lives covered by insurance for MaterniT21 with goal of 120M by end of year.
  • A reader of Brendan O’Connor’s column about turning off Down syndrome (featured in this post) writes about his experience with his Auntie Rosaleen, who brought his whole family together.
  • Obit: Jeannie Liao, 52, who did not dance as though no one was watching, but because everyone was, inspired an inclusive gymnastics program.
  • Thanks to Andrew Solomon for the tweet linking to this blog.

07/30/13

  • Did you know that 148 women prisoners were involuntarily sterilized? Between 2006 and 2010?  In California? Repeating history. [More planned for later blog post].
  • A parent’s book notes that sometimes those that contribute to disabling those with special needs are their own parents: “There are no easy answers, but the choices we make as parents can enable our children or disable them.”
  • Justice for Jenny: young woman with Down syndrome fighting for her right to pursue happiness. A twisted version of the Drew Barrymore film Irreconcilable Differences, where a child seeks emancipation from her parents.
  • A daughter with Down syndrome tells her mom, “I not want Down syndrome anymore.” Something to consider in the discussion of “turning off” Down syndrome. So is the mother’s response.
  • Another column explaining how the researchers “turned off” the extra 21st Chromosome, which the author describes as a “gene-hack.” A key point at the conclusion:

The approach is spectacularly successful, but the results are nightmarishly complex; this means that, unlike the engineering of inanimate objects, bioengineering succeeds primarily by modifying biological systems that have already been worked out by evolution.

07/29/13

  • Nick Cull, a professor of communications, addresses the Ethan Saylor case, notes the lack of national coverage, and concludes, ” One of the troubling things about Saylor’s case is the nagging fear that the silence is not a response to careful consideration of the available evidence but a symptom that in the last analysis in the America of 2013, people with an intellectual disability simply do not count.”
  • Spanish councillor with Down syndromeFirst Spanish town councillor with Down syndrome to begin work. Article notes paradox that many Spaniards with Down syndrome are denied the right to vote.
  • Why it is one of the most compassionate missions in the United States? See this handwritten letter from an adopted daughter with Down syndrome to her birth mother.

07/27/13

  • catersjackadcockdeath016 year old with Down syndrome left to die because doctor mistook him for another patient with a do not resuscitate order; doctor blames becoming deskilled after 13 month maternity leave and 12 hour work day. Says she can’t even recall whether she saw the boy’s face before telling staff to stop trying to resuscitate him.
  • WaPo editorial board speaks out on Ethan Saylor case, commending DOJ investigation and criticizing deputies for lack of judgment and common sense. That’s negligence. That’s wrongful death. (And what of the 20–TWENTY–witnesses)!
  • Honduran baby boy with Down syndrome flown to Denver for open heart surgery. His mom says it is a “fairy tale come true.” (With video).
  • Huntsville family moves to Tuscaloosa so son with Down syndrome can attend inclusive preschool. “It’s the adults that count chromosomes. The kids don’t.”

07/26/13

  • There’s a blog hop going on. My entry is here (with a cute photo of the kids). To see the other 19, click here. Who will be the 21st entry?
  • Doctor with the Genesis Fund (anyone heard of it?) encapsulates the tension in the news of a possible cure for Down syndrome:

It will take time to perfect the technique so it can be used in utero to hopefully prevent Down syndrome.

* * *

Today, they are an integral part of their families, receiving and giving a great deal of love to all.

  • Report from Hawaii shares two parents divergent reactions to the possible cure for Down syndrome–video of report available at link. One mother’s comment is an inadvertent counterpoint to a comment to this post on the blog:

They need to find a cure for cancer. They do not need to find a cure for Down syndrome.

Same Hawaii report ends with this curious quote:

As for turning off Down syndrome, it’s a decision almost impossible to make unless you’ve been in their shoes. So the hope is eventually no one will have to decide if the syndrome is gone.

  • Finally, a mother from Israel talks of the option rarely (if ever) discussed: abandoning your child at a local hospital,

It is by now a pretty widely held truth that nobody, but nobody, wants to give birth to a child with Down syndrome. Now there are at least two ways in Israel for a woman to rid herself of so untoward a burden. She can, as my more secular-minded cousin did, abort early. Or she can do what my ultra-Orthodox neighbor did and “abort” late by unloading her cargo at the nearest hospital and fleeing.

The remainder of the article is almost jaw-dropping in its way of presenting this option. Read the whole thing.

07/25/13

  • Doctors do not like it when patients discriminate against them. Hopefully that will cause them not to discriminate against others, like the disabled. Most do not, but too many still do. NY Times: When the Patient is Racist.
  • “In the future, chromosome therapy for humans would present ethical challenges., researchers note. To prevent Down’s syndrome, genome editing would have to occur on an embryo or fetus in the womb and alter most—possibly all—of the future child’s cells.” Contemporary OB/Gyn.
  • A mother’s take on the research that silenced the extra 21st Chromosome. “As a mamma bear, my first inclination is that I need to know about safety.”
  • A mother underestimates her daughter with Down syndrome, “from day 1.”
  • And, another mother asked her son with Down syndrome whether he wanted medical treatment to counteract the effects of his genetic disposition. His answer, “I like the way I am.”Down syndrome prenatal testing blog

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