special needs parenting, Williams Syndrome

Williams Syndrome Wednesday: Why research if there’s no cure?

Walker Day

I’m in the midst of doing some research focused fundraising.

There have been a number of people who’ve asked me if there’s a cure for Williams Syndrome, or if there will ever be.

For Alma, there will be no cure. The chain of 28 genes that is missing from chromosome 7 in her body can’t be replaced or repaired. It is a part of how every system in her body functions. One of the genes missing, the elastin gene, means the various tissues in her body don’t resume their shape after stretching or contracting.

If you were to suddenly replace the missing genes that caused her brain to be smaller than a typical person, with neuropathways that are larger in some areas than yours and mine, and smaller in others, her brain couldn’t suddenly revert to a typical brain.

There is some research that suggests someday, they may be able to use gene therapy to make a change in babies not yet born…but that’s a long discussion for another day.

Though the cause of Williams Syndrome seems simple, 23-28 missing genes – the ramifications of the deletion are far reaching – effecting most systems of the body.

But that by no means that research is futile in improving the lives of people like Alma who happen to have Williams Syndrome.

Far from it. There are people researching the best methods for teaching kids with WS to read, curing illiteracy and helping to increase the odds of future employment.

There are others researching why kids with WS suffer sudden cardiac events, often resulting in death, when individuals with WS receive anesthesia. This can mean the difference between life and death, even during simple procedures like having ear tubes placed.

There are folks studying why some have debilitating anxiety, why kids with WS have too much calcium, what techniques can be employed to help people with WS understand the difference between a safe person and one who will cause harm, how to make a friend and read social cues.  Others are studying how to manage the serious cardiac, gastro, endocrine, digestive, cognitive, behavioral, social, epidermal, intellectual and developmental challenges that come with WS.

And in turn, they are applying these learnings to unlock clues for other issues and syndromes. Some believe a ‘cure’ for Autism lies in the overly friendly personalities found in WS. And there are a host of other questions they feel can be answered by looking at the unique mosaic that is Williams Syndrome.

So is there a CURE? No.

Will the research make a difference in her life? There is no doubt.

Research is a CURE for despair and a catalyst for hope.

And who couldn’t use more of that?