A Perfectly Beautiful World
Claira Beth Brown was born on a gorgeous Sunday morning with the sweetest smile and the biggest blue eyes you have ever seen. Just like any typical family we were extremely happy and proud of our little baby girl. When she was 3 months old the storm clouds started rolling in…
Claira began to miss many developmental milestones. Her Pediatrician and well intentioned others insisted she was “just a slow baby” and “she will catch up.” I could not accept this and I became obsessed with research. I was her mother and my little girl needed my help. Nothing was going to stand in our way. By the time she was one, she still could not sit up or stand by herself. And she could not eat her baby food or drink without choking. She could not speak words or make expressions. She did not play with toys or physically hold anything in her hands.
At 17 months Claira began Early Intervention services, including occupational, physical, and speech therapy. We drove from Jacksonville to Birmingham every Monday, Wednesday, and Friday. By 2 ½ years old, Claira was still not walking, eating solid food without choking, and still no communication. Her cognitive ability was still on the infant level. Finally we made an appointment with a neuropsychologist. Claira was diagnosed to have autism, hypotonia, and global developmental delays. The news provided some answers and confirmed many fears. We vowed to get her the best possible care and therapies we could find. Dreams of tea parties, dance recitals, and sleepovers had to be put on hold for now.
At 3 years old, the questions returned as she began to show signs of seizure activity. We had fears earlier in her little life but never could catch them on camera, and it was very sporadic. Now, they were becoming more and more apparent, to where she was having up to 50-60 per day. We knew there was more than just autism lurking in the darkness.
At 5 years old, in Atlanta, a neurologist saw the same ‘seizure activity’. He sent off for a genetic panel to see how he needed to treat her seizures. When the tests came back, in July 2015, all of our questions were answered, and we had a real path to take. It was SYNGAP1!
We were set up with a genetics panel at UAB and they showed us pictures and print outs of her diagnosis, which was a whole new world to us. It was our child! In the pictures of the children, we were seeing the same little quirks, delays, and little perfections just like Claira, and every print out was reading as if it were made just for us. We were getting to know our little girl for the first time.
SYNGAP1 was discovered in 2009. It is a rare chromosome disorder, where chromosome 6 is either mutated, like in Claira’s case, or deleted. It is an epilepsy disorder, and can present along with hypotonia, intellectual disability, severe language delays or loss, physical delays, ataxic gait, schizophrenia, and autism type behaviors. Our lives are filled with EEGs, MRIs, and more abbreviations than you can count! Blood work is a bi-monthly activity, and she has a complete drug cabinet all to herself. But our child is perfect and beautiful!
We know there are around 250 more perfect children like our Claira Beth in the world! It has been a long seven-year journey but now we have HOPE that our daughter will continue to learn and grow like other children. We have been fortunate to meet several other families from around the world, Canada, France, Germany, UK, Texas, California, Illinois, Montana, North Carolina, Australia, and so many more. It will be a lifetime challenge day to day, keeping seizures stable as possible, and maintaining normalcy in a ‘rare disease’ world. But, now with a support group like Bridge the Gap Syngap Foundation, we are connected daily with other families, where we can share our struggles with someone who ‘gets it’, we can share our ever so tiny accomplishments and they understand why we get so excited, and we celebrate together as if we roped the moon! We share our child’s cries, their smiles, and their screams, all while we know one day…. WE WILL FIND A CURE