By Brenda, SYNGAP1, United States, January 16, 2019
Here's our rare disease story...many of you have heard it, some have not.
Danika came into this world like any other. Labor was quick, but the doctors did not bring her to me right away and when I looked, there were about 5 or so doctors, nurses, etc surrounding her. Her blood sugar was 7 at birth. Less than 40 constitutes hypoglycemia in a newborn. She spent the next 15 days in the special care nursery at Mercy hospital until I finally convinced the doctors I was capable of monitoring her blood sugars at home. She eventually outgrew the low blood sugars and we didn't have to monitor her anymore. The next thing we noticed is she would sleep in a contorted position with her head curled to one side. She was diagnosed with torticollis and started physical therapy. She was delayed in her physical milestones of sitting, walking, etc. which we contributed the torticollis. She would get easily constipated and became so accustomed to glycerin suppositories we even found one of her dollies on the potty chair after "receiving" one.
When she was about 1 year old, I went to check on her in her crib and noticed she had a large wet spot on her sheets near her mouth and her breathing wasn't normal. She wasn't responding to us like she usually would and her hands and feet were contracted. I took her to the ER and they told us it was likely a febrile seizure and we didn't need to bring her in the next time, just monitor her.
A few months later I got a phonecall from my mom that, "Something's wrong with Dani. I think she's having a seizure.". I told my mom to keep an eye on her, that I'd be there shortly, but then called her right back and said to call 911. I'm glad I did, because she ended up seizing for almost 45 minutes. This was NOT a typical febrile seizure. She went on to have about 1 seizure like this per year. Her neurologist recommended genetic testing when she was older.
As she got older, we noticed she was incredibly bright and able to manipulate her environment (and her parents) to get what she wanted, however, she acted much younger than her peers. At 2 years old she only used a handful of words and would only use 1or 2 words at a time. Her brother also had delayed speech, so she was started in speech therapy. At age 4, she was using 3-4 word "sentences" and had a slightly larger vocabulary, but many of her words were hard to understand.
We were told by friends, family, medical professionals, "Don't worry, she's just got a lot of energy, she'll catch up." As a mother, you know when something is different about your child. We had a developmental assessment done and they also recommended genetic testing. It was a long process to get approved by insurance, then waiting for results. They did chromosomal testing first and found nothing. Then they moved on to exome testing and that's where they found the SYNGAP1 mutation. Since receiving her diagnosis, I've joined a FB page with other SYNGAP families and it feels so good to see other children like Dani. Before her diagnosis, it was hard to explain her. She was "just Dani." She's still "just Dani", but now we have a name and a community we can add to that. We can share stories and experiences and, "Your child does that too?".
I felt a great sense of relief to finally know what causes my daughter to be how she is. She is perfectly and wonderfully made and I wouldn't change a thing about her.... except maybe give her the opportunity to someday become a real doctor, as she's wanted to be pretty much since the day she was born.
If you have a child with a rare disease, please share your story!
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