The NDSC & DSMIG Conferences: Alzheimer’s, regression, resources, & friends

How can a person have Alzheimer’s, but not? I learned about this and more at the 2015 National Down Syndrome Congress’ annual convention in Phoenix, Arizona.

100% Alzheimer’s–only 50% dementia

For the first time ever, I attended the Down Syndrome Medical Interest Group (DSMIG) conference held in conjunction with NDSC’s annual convention. Based on regular attendees’ feedback, I picked a good year to start attending.

One of the things I love about attending conferences is when you learn something in the very first session that makes the airfare, hotel, and time away from family all worth it. It happened in the first session of the DSMIG conference.

Dr. Michael Rafii is the Director of the Memory Disorders Clinic and Assistant Professor of Neurosciences at the University of California, San Diego. Rafii shared a statistic I wasn’t familiar with (paraphrasing):

While almost 100% of individuals with Down syndrome will develop Alzheimer’s, only 50% will exhibit dementia.

To make sure I heard that correctly, I asked him to repeat it during the Q&A session, which he did. Still not believing (or understanding), I asked him yet again one-on-one after the session. Here’s how it works:

Almost every individual with Down syndrome will develop the physical symptoms for Alzheimer’s, i.e the “plaques” that develop on the brain. However, only 50% will exhibit the signs of Alzheimer’s, the most common one being dementia. Dr. Rafii explained it was like someone who had all the physical symptoms for hardening of the arteries, but never had a stroke or cardiac event.

Afterwards, Dr. Rafii sent me this article at my request which goes into more depth on Alzheimer’s and Down syndrome.

Many women will either be told by their physician about the near-inevitability of Alzheimer’s or will find out about it on their own from an online search. But, I expect almost all (myself, included) will not appreciate this distinction: that while they may develop the physical symptoms of Alzheimer’s, half (and that’s only for those who live into their late 50’s and 60’s) will exhibit the behaviors and dementia of Alzheimer’s.

Not only is this reason to temper the understandable concern parents of children with Down syndrome have about Alzheimer’s, but it is why those with Down syndrome are being studied as suggesting possible treatments for Alzheimer’s, since so many can have the plaques, but not the dementia of Alzheimer’s.

Regression

The remainder of the DSMIG conference, however, was not as uplifting.

Dr. Brian Skotko presenting on his clinic’s research into regression

The focus shifted to research and case studies of individuals with Down syndrome who were functioning just fine, but then began to regress, some to a state of near catatonia. It was heart-rending to hear presentations on individuals fully included throughout their schooling, serving as public speakers, and being actively employed, begin to regress to where they would lose all the skills acquired, becoming near non-communicative, and having troubling behaviors.

From the research and case studies presented, it seems that regression is triggered in most cases by some form of trauma, with that trauma being wide ranging. It can go from a surgery that went bad, to an instance of physical, emotional, or sexual abuse, to something as comparatively simple as changing schools. But once the triggering event occurs (or in the rare case, when seemingly nothing triggers it), the individual with Down syndrome begins to regress.

And the most troublesome thing was that even though treatments are being developed, all of the presenters agreed that the individual may get back to 80% of the functionality they had, but they rarely if ever return to the same level of functionality.

Like I said, heart-rending. But, fortunately, there are many good physicians who are so committed to this issue that they are developing treatments and educating others.

Resources

The reason I was attending the DSMIG conference is that I had submitted an abstract to present at the conference for the first time. The conference planners were gracious in accepting my abstract as a poster presentation, which you can see in full by clicking on the image below:

The presentation summarized what resources had been recognized by professional statements.

The American College of Medical Genetics & Genomics (ACMG) recognized three resources to be provided to mothers following a prenatal test result for Down syndrome:

• Lettercase’s Understanding a Down syndrome Diagnosis
• Brightertomorrows.org
• The American Academy of Pediatrics (AAP) Healthcare Guidelines for Individuals with Down syndrome

(Interestingly, the AAP’s guidelines were an evolution from the guidelines issued by DSMIG).

The National Society of Genetic Counselors (NSGC) promulgated guidelines in 2011 on delivering a Down syndrome diagnosis that listed approved resources. That list was then incorporated into NSGC’s fact sheets issued in 2015 on noninvasive prenatal screening (NIPS). The American Congress of Obstetricians & Gynecologists (ACOG) then referenced the NSGC fact sheets in its updated statement on NIPS.

With prenatal testing expanding with more and more mothers accepting it, I was glad to make aware this collection of medical experts that there are professionally recognized and approved resources to support these new and expectant mothers.

Friends & Leaders

The absolute best thing about attending the NDSC convention is seeing all the friends and leaders who are working to make the world better for individuals with Down syndrome. I know I risk snubbing someone by inadvertently leaving them off this list, so, if by chance we crossed paths at NDSC, please leave a comment with a link to your resource or organization.

I invite this because really the purpose of this listing is to share with new parents reading this post a realization I never had until my daughter was born:

While you may feel the most alone you’ve ever felt and are anxious about what this new life may hold for you, you will learn that there are so many people working to make the world better for your loved one with Down syndrome.

Just take a look at this list of people who I spent time with (or meant to) while at NDSC:

Education & Employment

• Dana Halle, Executive Director for the Down Syndrome Foundation of Orange County, Vice President, Education and Outreach, Down Syndrome Education USA, who developed and leads the Learning Program (something every group should start up), and NDSC board member.
• Jeff and Jan Huffman with Raising Opportunities, who are leading a job initiative for individuals with intellectual disabilities in the hospitality industry
• Ricki Sabia with NDSC’s advocacy center working on better educational opportunities for individuals with Down syndrome
• Stephanie Smith Lee, Chair, Accreditation Workgroup, Think College, and consultant for NDSC on postsecondary education issues.
• Jennifer Smolka with the 321 e-Learning Conference, providing on-line learning opportunities

Healthcare

• Dr. Peter Bulova, co-chairman for the DSMIG conference and head of the Adult Down Syndrome Center in Pittsburgh, PA
• George Capone, DSMIG conference co-chair, director of the Down Syndrome Clinic and Research Center (DSCRC) at Kennedy Krieger Institute and associate professor of pediatrics at Johns Hopkins
• Terri Couwenhoven, who helps us navigate puberty and sexuality
• Maria Dellapina, founder of Specs4Us, ensuring individuals with Down syndrome have the eyeglasses that best fit them
• Anna Esbensen, a psychologist with the Cincinnati Children’s Down Syndrome Clinic
• Sarah Hartway with Down Sydnrome-Autism Connection, helping individuals with dual diagnosis
• Dr. Peter Smith, a developmental pediatrician doing good things both at the University of Chicago and for all of Illinois for individuals with intellectual disabilities
• Dr. Kishore Vellody, medical director for the Down Syndrome Center of Western Pennsylvania, and a board member for NDSC
• Patricia Winders, who helps us with gross motor skills for individuals with Down syndrome

Narrative Advocacy & Self-Advocates

• David Chaplin who shared this video of his son Daniel–a member of NDSC’s self-advocate council–discussing prenatal testing
• Sandra McElwee, an author sharing narrative advocacy about her son’s life
• Mardra Sikora, who was sharing her narrative advocacy with the book her son Marcus wrote
• Gail Williamson, founder of Down Syndrome in Arts & Media (DSIAM)

New & Expectant Parent Support

• 

  Heather Bradley, Jen Jacob, and your author

  Heather Bradley, Jen Jacob, and Janessa Gross with the Down Syndrome Diagnosis Network, providing on-line support for new and expectant mothers with their Rockin’ Moms groups

• Blythe Crissman, genetic counselor who worked on the Duke Prenatal Diagnosis Study
• Sarah Cullen, who leads the First Call program with the Massachusetts Down Syndrome Congress

Research

• Mark Bradford, executive director of the Jerome Lejeune Foundation USA
• David Charmatz, Senior Vice President, Global Down Syndrome Foundation, providing funds for research
• Michael Harpold, with the LuMind Research Foundation
• Melissa Parisi, project lead for DS-Connect (which if you are a parent, you should consider signing up for)

Support Group Leaders

• Krissy Crites, executive director of the Red River Valley Down Syndrome Society(RRVDSS) (and conference chair for DSAIA)
• Misty Holmes, board president for Down Syndrome Partnership of North Texas (DSPNT)
• Jim Hudson, executive director of the Down Syndrome Association of Greater Cincinnati (DSAGC)
• Bridget Murphy, longtime president of the Down Syndrome Guild of Greater Kansas City
• Ray Jansco, board president for Down Syndrome Association of Memphis & the Mid-South (DSAM) and NDSC board member
• Terri Mauldin, executive director of Down Syndrome Association of South Texas (DSASTX)
• Joe Meares, founder of Dads Appreciating Down Syndrome (D.A.D.S.) and former board president of DSAIA
• Amy Patterson with the Down Syndrome Association of Snohomish County
• Debbie Revels, executive director for Down Syndrome Association of Jacksonville (DSAJ)
• Brandy Snow, board president of the International Mosaic Down Syndrome Association (IMDSA)
• Deanna Tharpe, Executive Director of Down Syndrome Affiliates in Action (DSAIA), a national trade association supporting, connecting, and empowering local support groups
• Dr. Marilyn Tolbert, Board President for NDSC and director of two lab schools at TCU

Again, if I missed you (completely inadvertently), please leave a comment with a link to your organization. But, as is, it’s already an impressive list of people making this world a better place for individuals with Down syndrome.