Why I am a passionate advocate for research in rare diseases

Patient Stories

Why I am a passionate advocate for research in rare diseases

I am a mom of two young men, aged 18 and 16 years old. I am also the chair of the Research Support Committee of the Phelan-McDermid Syndrome Foundation (PMSF). Most people have never heard of Phelan-McDermid syndrome. Several years ago, I had never heard of it either, but today, finding a cure for this disease has become my life’s mission.

My pregnancy with my older son, Charles, was uneventful, and he was a healthy infant. He hit most of the developmental milestones, except for minor delays in speech around 18 months. By the time he was 2 years old, early childhood intervention counselors determined that his speech was significantly delayed compared to his peers.


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.


We tried vagus nerve stimulation (VNS), a surgical procedure where a stimulator is implanted under the skin. This device is connected to the vagus nerve in the brain and is programmed to send out electrical signals to curb over-excitation of his neurons. This helped to reduce the frequency of his seizures, but they still persisted.

As he became taller and heavier, his drop seizures resulted in more injuries. Sometimes he would bite through his lip, smash his nose or teeth and, frequently, end up with black eyes. Dr. Daniel Curry, our neurosurgeon at Texas Children’s, recommended doing a corpus callosotomy, a surgery that disconnects the right and left sides of the brain. This way his seizures would remain contained in one side of the brain, and there would be less chance of injuries due to a fall.

The surgery was a success, and for the past three years he has had very few drop seizures. Although he still has to wear a helmet and have a health professional or an attendant within arm’s reach, this surgery has allowed him to go to school on a regular basis.

When Charles was 11, I made a promise to him that I would do everything within my power to help him. Medical science did not have answers for all his health problems, and that was not acceptable to me. That was when I decided to volunteer with the Phelan-McDermid Foundation to work with researchers to find cures for this syndrome.

During my years of service at this organization, I have closely interacted with many devoted and compassionate child neurologists, like Dr. Jimmy Holder at Texas Children’s, who are not only dedicated to managing the symptoms of this syndrome, but also are committed to finding a cure for it.

Though there are no cures yet for this disorder, in the last few years, the team at Texas Children’s – including Dr. Holder and his colleagues in the clinic, as well as Dr. Huda Zoghbi’s lab at the Jan and Dan Duncan Neurological Research Institute – have made some important discoveries about the biology of SHANK3 gene which can have a significant impact on new drug development initiatives.

In the last few years, I have witnessed rapid progress in genomic medicine and basic Phelan-McDermid syndrome biology and that gives me a lot of hope. However, I have come to realize the road to Food and Drug Administration (FDA)-approved drugs, especially for rare disorders, is long, convoluted and paved with many technical and practical issues like scarce funding support and regulatory hurdles. Most times, the effort of scientists is alone not enough to translate to cures.

The only path I see going forward is for patient families to get involved in driving research initiatives and to join forces with researchers to advocate for increased funding support from the federal government. Besides advocacy, there are many ways for patient families to become engaged in medical research: donating dollars or precious samples for research, participating in relevant clinical trials or volunteering on family advisory boards of disease foundations.

It breaks my heart to see my child struggle everyday as a result of his genet

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