Why I am a passionate advocate for research in rare diseases

Since speech is such an important part of how we interact with people around us, by the time he was 4, his social and behavioral skills were also not on par with other children. He always preferred to engage in solitary, repetitive activities rather than playing cooperatively with kids of his age. He also struggled with ADHD.

I wondered if he had autism, and after he had the Autism Diagnostic Observation Schedule (ADOS) evaluation, the gold standard autism assessment, a developmental pediatrician at Texas Children’s Hospital confirmed my suspicions. To some extent, getting this diagnosis was a relief for us because we were finally able to receive the right kinds of medical treatments, behavioral interventions and educational tools my son desperately needed. We were able to connect with a group of supportive parents whose children also had autism.

While the diagnosis of autism was important, it never satisfied my need to understand what had really happened to my child. Every day I wrestled with a million unanswered questions. Why couldn’t he talk or behave like other children his age? Are we doing the best we can for him? Is there any drug or therapy out there that will cure him? The last question haunted me the most, but to find an answer, we first had to know what the cause of his autism was.

Around 2004, microarray analysis became available for the first time for diagnostic purposes. It can identify small genomic variations in a patient’s DNA, and is superior to the chromosomal tests that were being offered to patients at that time. We immediately enrolled our son at Texas Children’s and he was among the first few to be screened using this method.

We were told he had a tiny deletion on the 22nd chromosome, and that part contained the SHANK3 gene, which encodes a protein important for learning and memory. We learned that spontaneous deletion of the 22q13 chromosomal region during gestation causes Phelan-McDermid syndrome, a rare neurogenetic disorder that is one of the most common causes of autism.

Finding out the specific mutation responsible for my son’s condition turned out to be a very important decision for us. Prior to that, my husband and I would be thoroughly confused by the vast amounts of conflicting information on various therapy options that were discussed in the autism parent communities. We would read or hear accounts of some of these therapies being effective for a few children with autism, at least temporarily, and would wonder if we should consider trying them on Charles. As parents, we had a strong desire to leave no stone unturned for our child, but at the same time we would worry if some of those therapies could cause any undesirable side effects. Knowing the exact genetic mutation finally allowed us to be free of guilt about not trying some of those anecdotal approaches.

When Charles was 8 years old, he had his first seizure that landed us at Texas Children’s ER. I vividly remember how scared and shocked we were. Within six months, he went from having one isolated seizure, to dozens per day. During this time, the dedicated team of neurologists at Texas Children’s worked furiously to find the cause of his seizures and to figure out ways to curb them.

We tried several anti-seizure medications and combination treatments. Some of them would seem effective for a few weeks, but then he would relapse worse than ever. Also, frustratingly, some of therapies caused other health problems.