Miller

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8 years old
South Carolina

Miller was born in July of 2015, completely healthy and without any complications. After a brief hospital stay, we were home and in pure newborn bliss. Around 6-9 months old, we noticed that Miller was falling behind on his milestones. At 10 months old, we began therapies to address his delays after he was diagnosed with hypotonia. What started as PT led to all three disciplines: physical therapy, occupational therapy, and speech therapy. We were so confused as to what could possibly be happening and what the future would look like for Miller. After seeing multiple specialists and completing many tests, Miller was eventually diagnosed with global developmental delays, a very broad diagnosis. He would babble but spoke very few words, did not walk until he was 26 months old, and had difficulty with feeding. Overall, he was the happiest child who had no idea the challenges he was facing.

Fast forward to 2020 when we finally got in with genetics at Texas Children’s Hospital. It was at this time that our outstanding geneticist looked us in the eyes and stated what our hearts knew deep down, yet didn’t want to say out loud: Miller’s delays were likely genetic. We would first pursue Fragile X testing and if that came back normal, we would move forward with Whole Exome Sequencing (WES). In March of 2020, we received the results back from the Fragile X testing of negative. We already had the kit for WES at our home and immediately completed the samples. We knew it would be months before we would hear back, given the Covid-19 crisis. On July 28, 2020 our lives were forever changed. My phone rang and the caller ID said Texas Children’s Hospital. In that moment, I truly felt like my heart stopped. “This is __, I am a genetics counselor at Texas Children’s Hospital. The results have come back positive for SYNGAP1-Related Disorder.” There was more information that followed the diagnosis. De novo. Not inherited. No cure. Only around 250 in the US. I was in such shock that I truly cannot remember the remainder of the conversation. We had a call scheduled the next day with our Geneticist and a Neurologist who was researching SYNGAP1. Once we hung up, I had to walk up 14 stairs to my unsuspecting husband who was working in our home office. My eyes, my body language said it all…something was very wrong. It hit us like a blow to the face. The grief that followed the diagnosis was unlike anything we had ever felt before. We immediately connected with SynGAP Research Fund and had initial conversations with Mike Graglia, Peter Halliburton, and several others that will forever be ingrained into our memories. Mike made absolutely sure that we knew SRF was doing real work to accelerate therapeutics for our kids. The next month consisted of reading every single article we could find on SYNGAP1 and watching webinars on the SRF website. Sleeping next to Miller’s bed worrying that he was seizing all night long. Worrying that our third unborn child could possibly have SYNGAP1. The endless thoughts about Miller’s future. It was all-consuming and put us in a very dark place…our hearts were completely shattered. We hit the pause button and took time to start the grieving process.

In 2021, we decided that we would announce to those outside of our closest circle of family and friends that our precious first born son was diagnosed with an ultra rare genetic disorder. We held a Facebook fundraiser on Rare Disease Day (February 28) and were overwhelmed with the support from our community. While the vulnerability and transparency that this took was anything but easy, it was also very healing and a big part of the grieving process. The conversations that we had following the announcement were so gentle and comforting. We slowly began volunteering our time with SRF and felt like we were finding our footing in this SYNGAP journey. In 2022 we began hosting the annual Scramble for Syngap, a golf tournament held in South Carolina to benefit SRF and plan to host for many years to come. 

It is now 2024 and Miller is absolutely thriving. He loves school and attends the most inclusive school that we could have ever imagined. He adores PE, music and all of his teachers and therapists. Another big part of Miller’s week are his outpatient and ABA therapies. He also loves reading and enjoys both books and magazines. While Miller does not have an extensive verbal vocabulary, he can spell nearly any word you ask him on his AAC device! He is proficient with using his device for communication. Miller also enjoys going to weekly swimming lessons, playing with his two siblings, Miracle League baseball and sitting on the back porch, watching “his shows.” While Miller is generally a pretty easy kid, he most certainly has his challenges. He gets easily frustrated when his demands are not met or we are unable to understand exactly what he needs. Miller is also very routine-oriented and any changes to his schedule can be tough on the entire family.

When I sit and think about the word warrior, I now see our perfect 8-year-old little boy. Life is not always going to be easy for him. He will have to fight for a cure. Fight for treatments. Fight for rights. Fight to be seen. But as his parents, we will never stop fighting for him. We will spend our lives celebrating every single milestone, making sure he knows how deeply he is loved and giving him the best life possible. SYNGAP1 does not define Miller. He was created to do big things in this life and we have no doubt that he will. We are so thankful for SRF and all that it has given us: community, lifelong friendships, knowledge, and so much more. Our family also wants to acknowledge and thank all of the industry partners that have an interest in SYNGAP1. Your commitment and dedication to helping those affected by this disorder have given us the real hope for a better future for our son.