Sunday, May 17, 2009

The Things That Make Me Cry

I doubt this will make you cry, too, but I started crying when I read in a Williams syndrome publication that a new collaborative study is being done between scientists in the fields of cellular biology, cardiovascular gene therapy, and pharmacology. As the article states (because I could never paraphrase this properly!): "The study will examine possibilities for 'turning on' the elastin gene, modulating genes in the WS region on chromosome 7, and investigate rapamycin therapy as a way to slow down muscle overgrowth responsible for the stenosis in blood vessels."

People with Williams syndrome are missing a portion of genes on chromosome 7, one of these being the elastin gene. Elastin is used in the construction of blood vessels. Since people with WS do not produce elastin, this is why almost all of them have heart defects (ranging from mild to severe). I know this won't "fix" Williams syndrome, and it may not even have an impact on Clare. But to think that future generations of individuals with Williams syndrome may not have to face the severe cardiovascular issues that we have gone through with Clare overwhelms me with emotion.

3 comments:

Noel said...

Me, too. I did stop at that sentance and have to catch my breath. Just to think that parents someday may not have to worry as much as we do....just gives me hope.

nichole said...

I hope that those scientists are able to accomplish that. I'm adding it to my prayer list.

Aunt Joan said...

WRONG~ this brought me to tears, too!! I also will be praying for the future developments!! God be with those scientists, please! Thank you for giving us even more reasons to be thankful!!