Racing the Clock

Me visiting with a young attendee at the NDSC

Jerry and I, three staff, and two Down Home Ranch Board members attended the National Down Syndrome Congress Conference (NDSC) in Denver in mid-June.  Jerry and I went up early to attend the Global Down Syndrome Foundation Round Table on current advances in Down syndrome research and treatment.

Wow!  What a difference a few years make!  Down syndrome has traditionally been a subject few were willing to tackle in terms of research.  The reasons are complex and varied.

First, there's the matter of an entire chromosome being involved, not a single gene, as in cystic fibrosis.  It has only been in the last decade or so that researchers have been willing to tackle such a complicated and daunting task.  Where to begin?

Second, people with Down syndrome occupy a discounted niche in society, and many are perfectly satisfied for the main "treatment" for it to be early prenatal detection and elimination.  Why bother?

So, even though there are huge numbers of people with Down syndrome growing up or living with the effects of it, the amount of money set aside to study it and remedy it is minuscule in comparison.

But this is changing, and the reason it is changing gives me chills and thrills of happiness.  It's because--all over the country--families and friends of people with Down syndrome really, really love their kids and decided to do something to ensure a longer, better life for them.

Two attendees having their own dance

Of course we've always loved our kids, but we weren't always organized in ways to let us do anything about it.  We were marginalized and isolated and, until relatively recently, advised to stick them in a state school and forget about them.

When our Kelly was born in 1984, though, things had started to change.  Our pediatrician was knowledgeable and did not paint the grim picture presented to most new parents.  She was upbeat and told us right off, "You're going to have a great time with this kid!'

By happy chance, the NDSC convention that year was in San Antonio and my daughter Martha and I attended it when Kelly was just a few weeks old.  There were about 300 people total in attendance.  This year, believe me, we soaked up pretty much all the meeting and hotel space available in downtown Denver and the estimate of attendees is around 3,000.

Jerry with Michelle Whitten, founder of the Sie Center

At the Linda Crnik Institute for Down Syndrome Research at the University of Colorado Medical School, we heard presentations on proposed and ongoing research designed to mitigate or erase the effects of what is believed to be only a few genes on the extra 21st chromosome borne by people with Down syndrome.  We also heard the "good news" about families with a child with Down syndrome, which is that they tend to be happier than other families, with a lower divorce rate.  (Makes sense: all those daily hugs!)

At the conference itself we attended a variety of workshops, splitting up to be able to cover as much territory as possible.  Our group consensus is that each and every one attended was well presented and worthwhile, quite a testament to the organizers. 

Judy, Gigi, and Carol at banquet

Another exciting development to emerge from the conference is that the NDSC has embarked on an aggressive campaign to provide the medical community that will counsel prospective parents who have received a diagnosis of Down syndrome in their baby with accurate information.  Generally to date 90% of the information given is dismal and most of it isn't even up-to-date scientifically.

There is no way to even touch on all the important things we learned, but I encourage you to follow up with the links to websites included in this blog and below:

Down Syndrome Research and Treatment Foundation
Down Syndrome Research Lab, University of Texas at Austin
www.alz.org/research for research on Alzheimer's Disease
The Sie Center for Research http://www.globaldownsyndrome.org/our-story/anna-and-john-j-sie-center-for-down-syndrome/