January 2016 Family Spotlight: Little Miss A
January 17, 2016
When my sweet daughter was born she came into this world just like any other healthy screaming baby. There was no indication that anything was amiss. She nursed well, she preferred to nap in my arms, and she loved her swing. We would go to her monthly doctor’s appointments and answer their questions and walk away happy that we seemed to be doing okay as her parents, a job that was very new to us first timers.
At Miss A’s four month check-up I expressed concerns about her not wanting to roll over, but the doctor answered that babies all do things at different rates and to give her time. It seemed I was an anxious mom naturally, so I heeded the doctor’s advice. Come her six month check-up she was still not rolling over. The doctor did a couple of other tests such as seeing if she would bear weight through her legs, she would not. She tried to get her to hold herself even a little bit in the sit position and found that Miss. A offered no trunk support. The doctor assured that everything was likely fine, but that we should have her evaluated by Early Intervention. Two months later Miss. A had been accepted into the EI program and was beginning Physical Therapy for low muscle tone.
The pediatrician referred us to see a neurologist. Her take was that if nothing was going on than great, Miss. A was just going at her own pace, but that it was best to know. We met with Neurology for the first time when she turned a year old. They wanted an MRI because she kept closed fists and despite her low muscle tone and an ability to be downright rigid; they were looking for CP. The MRI came back clean. At 14 months the Neurologist wanted us to do an EEG to check for seizures; the EEG came back clean. A few months after that the Neurologist asked us to do a Karyotype to test her gross genome; it came back fine.
All of these tests and no answers are tiring for all parties involved. All the while Miss. A continued her therapies, at this point having OT added to the mix. I searched the internet tirelessly looking for answers. I searched things like children with infectious laugh + developmental delay, children who like water + developmental delay. My search came back to Angelmen Syndrome. I called the Neurologist and I asked them to conduct a FISH test for Angelmen, that the symptoms were too striking and they offered me one better. It was at this point Neurology told us they would order a CGH Microarray for our girl and warned that even with insurance coverage it was expensive. We did not care.
The test took several tubes of blood and a couple of months to process, but finally after two years and two months of this child’s life, we had an answer. Syngap1. The doctor told us that he didn’t have much information. He handed us some print outs of articles from the internet he had found and told me I wouldn’t understand most of what I would read. He strongly underestimated this mama. He told us that Syngap1 meant she would have an intellectual disability, and that ultimately nothing changes for her having a diagnosis. All therapies and everything would remain the same.
We met with a Geneticist, but he didn’t really have any information either. Miss A was born the same year Syngap1 was discovered as mutagenic. There were only three patient’s case studied at that point in time. So even with a diagnosis we were very much still in the dark, but at least we had something. I had something concrete, that I could search regularly and it would bring me to new research and it would one day bring me to Monica Weldon, the now President of the Bridge the Gap Syngap ERF.
Syngap1 is a genetic mutation or deletion that causes intellectual disability, seizures, and a host of other issues. We have dealt with feeding issues, strabismus surgery, and low muscle tone. We have worked for years with speech therapists, physical therapists, and occupational therapists. We have worked with behavioral care supports and therapeutic wrap around services. Miss A works constantly and tirelessly.
Seizures are our most recent battle. After 6 years we finally learned that Miss. A was having absence seizures. I can tell you it makes you feel like a horrible mother finding out that your child’s brain has been essentially blanking out, and you haven’t even realized it. And no, it’s not for lack of paying attention, it’s because you say oh, that’s Miss A being herself, and staring off into space. No doctor ever told us that it could mean a seizure. It wasn’t until another Syngap mom had recently went through the same thing and we thought we should have her checked to make sure.
Miss A. has overcome so many obstacles in her young life and has shown us what it is to have determination, persistence, and fight. She has shown us what it is to love unconditionally, to laugh with your entire body, and to enjoy the simple things. If ever there were a ray of sunshine my darling daughter is it. She brightens up my life and presents me with challenges and joys I could never have imagined. This weekend I celebrate her birthday and remember how far she has come and think about how far she will continue to go.
I ask you, as you read this, to make a wish for this little girl and all of the children affected by Syngap1. That researchers will continue to develop ways to better control their seizures. That they can quiet the overexcitement happening in the cellular spaces of their brains. That they can help them make sense of this crazy world we live in and that they continue to thrive far beyond what any doctor thinks is possible. That these researchers can one day do what Miss A’s geneticist blatantly told us would never be possible – that they find a cure for this form of intellectual disability – Syngap1.