I have been disturbed about the senseless tragedy at the Boston Marathon and wondered if I could bring myself to post my story today. But I kept seeing Mr. Roger’s quote everywhere:
“When I was a boy and I would see scary things in the news, my mother would say to me, ‘Look for the helpers. You will always find people who are helping.'”
And I realized that the show must go on- I must keep writing about people who are helping, who are trying to do good things all over the world. And it helps to bring a semblance of sanity to what’s happening right now, to write about someone who is dealing with a difficult challenge for her family and how she is able to overcome those challenges to do what is right for her family.
When Geraldine Bliss’ son Charles was 7 years old, a chromosomal test revealed he had a partial deletion of the SHANK3 gene, which codes for a protein that has a central role in the structure and function of synapses (the tiny space where neurons connect). This gene also interacts with many other proteins that have also been found in people with autism.
This anomaly is called Phelan-McDermid Syndrome and it is also characterized by conditions such as seizures, heart problems, and gastrointestinal dysfunction.
When Charles’ condition finally had a name for it, his mother felt a sense of relief. There was no more uncertainty, no more wondering what was going on with him. Now she knew. And now she could take steps to learn all she could about this syndrome and get the resources her son needed to navigate his challenges.
Phelan-McDermid Syndrome was named after two researchers who identified the SHANK3 gene: Dr. Katy Phelan of Tulane University School of Medicine in New Orleans, and Dr. Heather McDermid of the University of Alberta in Canada.
When I learned about Bliss’ efforts to raise awareness about this rare condition, I realized it must be challenging to get the word out to other families whose children have similar symptoms, but may not know the cause. She was kind enough to take time out of her busy schedule to answer a few questions:
IP: What were the telltale signs leading up to your son’s diagnosis?
GB: Charles’ first two years were unremarkable. He met his developmental milestones on time, crawling before 6 months and walking at 10 months. At age 2, when most toddlers begin to quickly acquire and use new words, Charles had only six intelligible words. With intensive speech therapy, his speech slowly improved, but other problems emerged. Charles struggled with impulse control and he engaged in repetitive speech and behaviors. He fell further and further behind his peers, socially. At age 4, Charles was diagnosed with autism.
While the autism diagnosis Charles received at age 4 was important, it never quite satisfied me because it didn’t help me understand what had happened. We pursued various types of medical testing to understand the cause of his autism. Finally, at the age of 7, he was diagnosed with Phelan-McDermid Syndrome. This genetic diagnosis facilitated my involvement in supporting research in a way that I could see would result in meaningful outcomes for my child and many other children affected by Phelan-McDermid Syndrome and by autism.
Just before Charles’ 9th birthday, he began having seizures. Within several months, his seizures had spiraled out of control into a medically refractory type of epilepsy called Lennox-Gastaut. It was a really frightening time for us. Some days he had hundreds of seizures. Charles began losing skills like reading and writing. It felt like we were speeding down a steep slope, and we were utterly powerless to slow the progression of this disease.
After two frustrating years of countless failed medications, an implant to reduce seizures, and an exacting high fat diet, I realized it would be unlikely we’d ever have a real cure for Charles unless we did something to transform medical science. I promised Charles I would do whatever I could to help him get better.
IP: What are the challenges of Phelan-McDermid Syndrome?
- The process of getting a diagnosis can be tough. I estimate there are probably 7,000 children in the U.S. who have Phelan-McDermid Syndrome, and do not yet have a diagnosis. The foundation is working with some other groups to help educate physicians and parents of children with autism and intellectual disability about genetic testing.
- Medical conditions that affect quality of life are huge challenges. Unfortunately, we do not yet have comprehensive clinical care guidelines. This year the foundation is starting to focus on clinical research.
- Parents face countless challenges: fighting battles with insurers, finding physicians and therapists with expertise in caring for the long list of complex issues patients with Phelan-McDermid Syndrome face, negotiating with providers of social services and educators- the list goes on. Many of us struggle to find some balance in our personal lives. It’s not because we’re martyrs, but because the needs of our children are so great.
- At some point or another, many families experience a tough social situation: an unkind word from a stranger, a lack of support from family members, or outright discrimination. The parent-to-parent support our foundation provides is a godsend to families – especially in those moments when we’re hanging on by a thread!
IP: Tell me about your involvement with the Phelan-McDermid Foundation?
GB: In 2006, when Charles was diagnosed, our family connected with the Phelan-McDermid Syndrome Foundation which, at the time, served primarily as a support group for families. There were only 200 individuals in the world that had been diagnosed with Phelan-McDermid Syndrome, and the most reliable source of information was other parents.
I am a full-time volunteer and the chair for the Research Support Committee for the Foundation. I always thought I would resume a career, but what I’m doing right now is the most important thing I can do for Charles and my family.
We are at a very exciting time for research related to Phelan-McDermid Syndrome and other genetic causes of autism. There is much work to be done yet, but new discoveries are inspiring hope that we will not just treat the symptoms but will correct the underlying molecular causes of these devastating neurological conditions.
IP: What will the foundation do with donations it receives?
GB: The Phelan-McDermid Syndrome Foundation has two major program areas: family support and research. Our family support initiatives include a family conference every two years, newsletters, website, and regional gatherings. Our foundation has grown to about 900 families, so it is quite an undertaking to serve their needs.
The other major focus is research support. As a small foundation, we have had to focus on initiatives where we expect the greatest impact. For example, our parents are the real experts on the syndrome. To tap into their knowledge, we built a web-based patient registry. It is the largest collection of phenotypic and genetic data from patients with Phelan-McDermid Syndrome, with over 200 questions about medical and developmental issues in our syndrome. We have been building resources for the research community, so data and biosamples, like blood, DNA, and fibroblasts (skin cells), are available to many different research teams for a wide range of research projects.
Through our fellowships, we are funding important projects that will hasten the development of effective therapeutics: a new mouse model of our disease and studies of Phelan-McDermid Syndrome neurons, grown from patients’ skin cells that have been reprogrammed into pluripotent stem cells. We’re fostering a culture of openness and encouraging collaborative efforts by bringing together many research teams at our symposia.
We have recently hired staff to help us execute and scale our programs.
What you can do:
- Parents who wonder if their children might have Phelan-McDermid Syndrome should visit a geneticist. The diagnosis can only be made by identifying a deletion at the very end of the 22nd chromosome or by identifying a mutation of the SHANK3 gene. Once families have a diagnosis, the next step is to contact the Phelan-McDermid Syndrome Foundation. Barbara Cruz, the Executive Director, will connect the family with their regional coordinator.
- Donate: This link will take you directly to the donation page on the Phelan- McDermid Syndrome Foundation website.
- Learn more and spread awareness: The Phelan-McDermid Syndrome Foundation website has a ton of information.