BY CHELSEA’S FIRST BIRTHDAY, HOWEVER, IT WAS CLEAR SHE WAS NOT DEVELOPING NORMALLY. SIX MONTHS LATER, CHELSEA WAS DIAGNOSED WITH RETT SYNDROME. BUT THERE WAS NO DEFINITIVE TEST FOR RETT SYNDROME, NO KNOWN CAUSE, AND NO TREATMENTS. COENRAADS DEDICATED HERSELF TO SEEK OUT AND WORK WITH SCIENTISTS WILLING TO STUDY THE DISEASE. A COFOUNDER OF THE RETT SYNDROME RESEARCH FOUNDATION (RSRF) AND ITS CURRENT DIRECTOR OF RESEARCH, COENRAADS HAS HELPED PROVIDE MORE THAN $11 MILLION IN RESEARCH GRANTS.
After Chelsea's diagnosis, I started to learn all I could about Rett syndrome. It was a pretty depressing scenario: The girls lost most if not all acquired language and motor skills, became autistic-like, and suffered seizures; some appeared to be in terrible pain. Even more depressing, the search for the gene had been ongoing for 15 years.
It was evident that an organization able to focus its energy on research would be beneficial. At the beginning, I just wanted to link scientists to speed discovery. I talked to top-notch scientists and directors of research organizations about what was needed. As it turned out, just as we were getting RSRF off the ground, the Rett-related gene MECP2 was discovered, so we immediately began brainstorming about the next steps.
I never expected to fall in love with the science, but the neurobiology of Rett is fascinating. MECP2 is involved in regulating the expression of other genes, so the question is which genes are responsible for the diverse neurological symptoms. MECP2 has lured all sorts of researchers into the Rett field, because it touches on so many different areas of science.
Before the Foundation, I was running a successful restaurant. I have an MBA, but I really fell into the business. My father had opened a restaurant in Stamford, Connecticut, and soon after became very ill. My brother and I took over and ran it for 10 years. I figured that when life had thrown me lemons I had made lemonade once. When Rett syndrome reared its ugly head, I thought perhaps I could do it again.
I'm not so naïve to think that we have the resources to single-handedly cure Rett syndrome—that's bigger than any one organization, lab, or investigator. But we do have passion. Founded by six concerned parents of children with Rett, our organization is extremely motivated and a lot of what we do doesn't involve huge amounts of money. We can bring researchers together to share ideas. It's about engaging world-class talent. It's about forging relationships and pooling resources.
We can be nimble in ways that large federal agencies aren't, funding risky projects that the government isn't willing to take on. We have an esteemed scientific advisory board, chaired by Adrian Bird of the University of Edinburgh, and many ad hoc advisors who ensure that we fund high-impact projects directly relevant to Rett syndrome.
Photo: Paul Fetters