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Rare Disease

"You’re never prepared for being the parent of a child with a rare disease. My husband and I thought having twins was going to be our biggest challenge. For 10 months, we lived in beautiful chaos, adjusting to life as a family of 5 and were doing pretty well until our (then) 10 month old son had his first seizure. We were reeling. Seizure medication, epilepsy, AVM. What does this all mean? On May 8, 2013, Silas underwent a neuro-angiogram to determine the cause of his seizures and abnormal blood flow. But after his procedure, the doctor informed us that the test determined Silas actually had Sturge-Weber Syndrome. Sturge what?! We were relieved to have a diagnosis but terrified by what this meant. As we sat in the waiting room, anxious to see our baby, we googled Sturge-Weber Syndrome. We found a link to The Sturge-Weber Foundation and stared at the words “Researchers have discovered the gene mutation that causes Sturge-Weber Syndrome”. Our first glimmer of hope. Two months later, my husband flew to Denver, CO to meet the staff of the Foundation, many other families who had walked in our shoes, and even shake hands with the Dr. Pevsner the man who’s team had discovered the gene mutation. From that point we began advocating, volunteering and getting involved in any way we could. A big initiative of ours was to find a way to raise awareness and money. We are big music lovers and often frequented a local coffee shop/music lesson venue where our children, mostly Silas and his big sister, LOVED the family night karaoke. At the age of 2, Silas would stand on stage and sing along to the Yellow Submarine. On that stage, Rock for a Cure was born. While Sturge-Weber can cause patients to deal with seizures, glaucoma and facial birthmarks that require laser treatment, Silas has only had to deal with seizures to date. We were blessed to have 3.5 years seizure free, though have recently been dealing with new seizures we are trying to get under control. Our hope is that through continued awareness and fundraising, we can make a positive impact on our son’s life as well as the rest of the Sturge-Weber community.“ @rockforacure

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