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I've raised over $4 million for research on my son's disorder. A cure won't happen in his lifetime, but I want to help others.

Mike Graglia   

I've raised over $4 million for research on my son's disorder. A cure won't happen in his lifetime, but I want to help others.
  • My son was diagnosed with SynGAP, a rare genetic disorder.
  • It causes seizures, sleep disorders, intellectual impairment, aggression, and other risk factors.

When my son Tony was born in 2014, he appeared healthy and neurotypical but started to miss milestones early. He never rolled over, was late to sit and crawl, and would often look at us with bemusement when we tried to convince him to clap, wave, or point. By age 2, it was clear that something was amiss; he only spoke 10 words.

When he was nearly 3, he had his first visible seizure. We were terrified. That set off months' worth of tests, uncertainty, and fear, after which Tony was diagnosed with a rare genetic disease called SynGAP. At this point, we had failed on two anti-seizure medications and were using keto and CBD to treat Tony.

At age 4, Tony began to experience severe sleep disruption. As he grew, so did his major behavioral issues. By age 8, he was on a slew of medications to manage everything from seizures to anxiety. The risks to a SynGAP patient are almost endless. Most individuals with this disease have half the necessary amount of the SynGAP protein, which plays a role in many of our human functions, which explains why they experience so many life-altering symptoms. So, the numerous problems an intellectually impaired person faces combine with refractory epilepsy and aggressive autism in a SynGAP patient, which is a recipe for catastrophe.

For example, Tony doesn't understand danger like a neurotypical kid, is easily agitated, and suffers from seizures and disordered sleep. As his parents, we constantly worry about him developing drop seizures, jumping into danger without warning, or having a meltdown — which often leads to unkind responses from onlookers.

He will never get better with the current medical options available. The physical and emotional toll this diagnosis takes on families is impossible to put into words.

We won't find a cure for him, but could help others

As my wife, Ashley, and I experienced our first waves of grief, we channeled that energy into educating ourselves and problem-solving. We spoke to every scientist and biotech leader who would pick up the phone. After three months of listening and taking notes, often late into the night, aided by PubMed, ClinVar, and coffee, two things became clear to us.

First, curing SynGAP is theoretically possible. The science and technology to target and correct a single gene mutation exist. For example, spinal muscular atrophy, a fatal disease that, like SynGAP, is caused by a mutation on one copy of a single gene, is treated by antisense oligonucleotides (ASOs) and gene therapy.

Second, curing SynGAP in the timeframe that mattered for our son — the time it would take to build his brain — was not particularly likely.

Even though the treatment for SynGAP is scientifically possible, the chasm from the academic's brain to the patient's bedside is wide. Professors think of new insights and publish papers. Biotechs and pharmaceutical companies scour these papers and conduct some of their own research, but they have a finite amount of resources, and preclinical discovery and clinical trials are high-cost and high-risk. Finally, regulators still struggle with novel therapeutics, which creates investment-killing uncertainty.

We decided to do everything we could to help a cure for SynGAP cross that chasm. Our child did not ask for his difficulties, and we did not ask for permission; we got to work.

We took a loan against our home to help research

In 2018, we took out a loan against our home, and the SynGAP Research Fund (SRF) was born. It was the start of a journey that would become something we never could have imagined.

We wanted to help Tony and kids like him through research. I did not anticipate that searching for donors and answers would lead us to other SynGAP patients, which changed our lives.

A rare disease diagnosis is isolating. We learned through this work that the disease was much more prevalent than previously understood. Meeting other families, who understand what our life is really like, gave us a meaningful community. We all work together, talk about our challenges, and have a sense of shared responsibility and love for the kids.

SRF has committed over $4 million to research. Over the last year, four biotechs have launched programs for genetic therapies for SYNGAP1, one university has announced a major program, and multiple drug repurposing efforts are in flight. We know Tony will live with symptoms caused by SynGAP for the rest of his life, but we are on the cusp of a breakthrough that will significantly ease the struggle for him, our family and thousands of others around the world. What was once implausible — treating the root cause of Tony's condition — now appears inevitable.

Today, instead of wanting to help "kids like Tony," I have a collection of hundreds of names and personal stories of the unique challenges SynGAP presents for each family. It is no longer abstract. As SRF has grown, so has our connection. As amazing as the scientific breakthroughs are, the true miracle of the foundation is the village that we have created to help each other through what might otherwise have been an impossible circumstance. And we are just getting started.

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