Re: Phelan-McDermid syndrome

[Guest guest]

Hi Amy. As a matter of fact, yes! My son, , has Phelan-McDermid Syndrome. Here is our story: http://blog.autismspeaks.org/2011/01/11/the-phelan-mcdermid-syndrome-foundation/ I live in Houston. Where do you live?

Have you connected with the Foundation yet? www.pmsf.org Here is the link to the Facebook family support page: http://www.facebook.com/groups/22Q13PMS/ Next week is the Phelan-McDermid Syndrome Foundation's biennial family support meeting and scientific symposium, so I expect there probably won't be too much activity on the FB page the next several days.

I chair the research support committee of the foundation. We're relatively "fortunate" that we have a gene and a protein to target. There are several very promising research projects underway, including our first clinical trial. Welcome to the "PMS" family. I'm sure it's never where you intended to end up, but you'll find many great people there.

Geraldine

Phelan-McDermid syndrome

Hi Ladies,We just received word that our daughter looks to have Phelan-McDermid Syndrome, so I was just wondering if anyone else on this list had received that diagnosis or had any knowledge/experience with it?Amy