A Perfectly Beautiful World
Claira 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 had trouble eating her baby food or drink without choking. She was not speaking words or making 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 at the infant level. Finally, we made an appointment with a neuropsychologist. Claira received a diagnosis of autism, hypotonia, and global developmental delays. The information provided some answers and also 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.
At three years old, the questions returned as she began to show signs of seizure activity. We had feared earlier in her little life but never could catch them on camera, which 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.
A neurologist saw the same seizure activity at five years old in Atlanta. He sent off for a genetic panel to see how he needed to treat her seizures. All our questions had answers when the tests came back in July 2015. It was SYNGAP1! We had an absolute path to take.
We had an appointment with a genetics panel at UAB, and they showed us pictures and printouts of her diagnosis, which was a whole new world to us. It was our child! In the photos of the children, we saw the same little quirks, delays, and little perfections just like Claira, and every printout 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 and 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 with hypotonia, intellectual disability, severe language 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! But our child is perfect and beautiful! Blood work is a bi-monthly activity, and she has a complete drug cabinet all to herself.
We know around 250 more perfect children like our Claira Beth in the world! It has been a long seven-year journey, but now we hope 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, the UK, Texas, California, Illinois, Montana, North Carolina, Australia, and so many more. It will be a lifetime challenge daily to keep seizures stable as possible and maintain normalcy in a ‘rare disease’ world. But, now, with a support group like The Syngap1 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. They understand why we get so excited and celebrate together as if we roped the moon! We share our child’s cries, smiles, and screams, all while we know one day. WE WILL FIND A CURE!
