SciWorks Radio is a production of 88.5 WFDD and SciWorks, the Science Center and Environmental Park of Forsyth County, located in Winston-Salem. Follow Shawn on Twitter @SCIFitz.
Loads of research goes into the diseases that touch many lives; Alzheimer's and Cancer, for example, are gaining clever new treatments. But what if your child's condition is so rare that there are only about 500 cases worldwide? That's what happened to Dr. Paul Pauca, Associate Professor of Computer Science at Wake Forest University. His son was born with Pitt-Hopkins syndrome in 2005.
It wasn't until about 8 months to a year when he started losing his milestones that we knew that there was something wrong.
Pitt-Hopkins is on the autism spectrum. People with this condition experience intellectual disabilities in varying degrees. Some characteristics include delayed motor skill development, like difficulty in learning to walk. For most, speech is limited or absent, and many experience regular hyperventilation.
...but really it's associated with problems in Chromosome 18. So, Victor has a large deletion that includes a very important gene called TCF4, which is involved in brain development, central nervous system, and many other things. My oldest daughter, Sophia, loves science, and she's doing a lot of research on Pitt-Hopkins Syndrome now. So, the way she puts it is this: imagine all the cells in your body, millions and billions of them, and within each cell you have DNA. Within each DNA you have 23 pairs of chromosomes which are like encyclopedias that say how your body is going to behave. And chromosome 18 is the encyclopedia that is affected by Pitt-Hopkins. But what Pitt-Hopkins really is is you're missing a few pages in that encyclopedia. You're not missing the entire chromosome 18. So, Victor has a reasonably large deletion, but within that is the entire TCF4 gene.
Until recently, there was very little research on this rare condition. What was done was published in the 1970s and, according to Dr. Pauca, left little to no room for optimism.
At the time, Victor was two and a half, he was already walking. He was very lively, so we thought, you know, reading the literature would destroy a parent's hope, if the child is under 3 months old. So, we wanted to change that.
Dr. Pauca's solution was to found the Pitt-Hopkins Foundation in 2010.
Our mission is to find treatments for Pitt-Hopkins syndrome if not a cure. We are funding really cutting edge research being done at the University of Alabama-Birmingham, at UNC-Chapel Hill, Johns Hopkins, MIT, Harvard, and this is all with efforts from people in the foundation and families from around the country. We've raised over two million dollars with all our sweat and tears.
A cure may or may not be found, but the future of effective treatments is looking bright.
We are interested in research that has potential to bring drugs, and not necessarily new drugs. There are a lot of orphan drugs that have been found for some other condition. And that now are found to have the capability, for example, to increase intellectual or learning or memory, and that's happening for Alzheimer's, for many other conditions. We are pushing really hard with the limited funds we have. If we are able to raise cognitive levels to the point where the child can communicate better, I think that would be tremendous. Most of them have excellent receptive communication skills; they understand what's going on. But they have a hard time expressing it, so if we could somehow help them to express those feelings and that communication, that would be fantastic. So, I think that in 15 years there will be some kind of treatment.
The Pitt-Hopkins Foundation does not pay a salary. According to Dr. Pauca, more than 95% of revenue goes to research, while the rest supports the costs of running a non-profit organization. This fits into the Wake Forest University philosophy of Pro Humanitate or “for humanity.”
We realize that, being professors and being in science, we don't have to simply work for research papers that may or may not have impact on the future, but we can actually do something for society now, whose needs can be met with ingenuity and a little bit of resources. Being a parent of a child with a disability has completely changed our lives for the better, I would say. A lot of parents make the same choice. My wife says “you can choose to be bitter or you can choose to be better,” and we choose to be better.
This Time Round, the theme music for SciWorks Radio, appears as a generous contribution by the band Storyman and courtesy of UFOmusic.com.
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