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Rare Diseases

“Our son Owen was born on February 7, 2018 weighing in at nearly 12 pounds and almost 2 feet long. When he was two weeks old he was officially diagnosed with an extremely rare genetic syndrome called Beckwith-Wiedemann Syndrome (BWS). BWS gives children a higher risk of developing childhood cancers. Owen’s risk is 1 in 5 children, or about 25%. It is so rare that most doctors haven’t heard of it and most pediatricians need to google it before taking care of these children. BWS affects every child that is diagnosed with it differently. Not one child is the same, which makes diagnosis and early recognition extremely tricky. Combine that with the fact that little is known about it and you have children who are getting diagnosed very late or not at all. This is concerning because  BWS babies rate of growth is so extreme that if they do get cancer it grows much quicker in them than it would in a non BWS child. For this reason, BWS babies are given ultrasounds and blood draws every three months until the age of 8. Owen was born with an extremely large tongue that never fit in his mouth which he had reduction surgery on at 7 weeks old because it was obstructing his airway. He was also born with a very large belly, hemihypertropy (enlargement or uneven growth of one side of the body), hypoglycemia, and an umbilical hernia.  Owen also sees countless specialists and therapists. Even though BWS babies go through so much they are resilient and are always smiling. Owen is our pride and joy and we wouldn’t change him for the world. Our family has spent the last two months raising awareness for Owen and all the BWS babies out there by starting Larger Than BWS. Larger Than BWS aims to connect BWS families and educate those who have never heard of it. We are hoping that the more awareness that is raised the more children will be diagnosed which ultimately could save them from cancer. Our family is proud to wear these awareness necklaces, yellow for pediatric cancer awareness and is one of the BWS colors, and stripes for rare disease awareness. Together we hope to make BWS known instead of a question!” @largerthanbws 

 

"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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