At our first visit, our current neurologist gave me the impression that as long as L progressed, there might not be a need to try and determine the reason for his hypotonia. I didn’t feel there was any dramatic difference between where L was at our first visit a few months ago and now, except he was consistently stringing 2-3 words together to communicate with us. I assumed we’d be asked to come back in another 5-6 months time so the neurologist could keep an eye on L.
But I was (very pleasantly) surprised that the neurologist started talking about our options in trying to find a WHY.
Our first neurologist insisted on an MRI earlier this year. While I wanted to find out WHY, I struggled with this decision. So many other people involved in L’s care didn’t think an MRI was necessary and I wondered if putting L through one was more for my benefit than his. That’s when I dropped this particular neurologist and found another who actually listened to us.
From what I understand starting with an MRI is pretty norm because it rules out brain/spinal cord damage that can cause low muscle tone (such as cerebral palsy). The biggest downside is that L would have to be put under anesthesia because he’s too little to stay still. I assumed this is where our new neurologist would want to start, but he surprised me when he said he thought it was too invasive.
He wanted to send L to a genetic specialist to see if the cause is an issue with his chromosomes. This is usually the second step if the MRI is clean, but I was more than happy to start here. The neurologist didn’t specifically say he wanted a chromosomal microarry done (a blood test to see if there are any deletions or mutation in chromosomes), but the details he was giving sounded a lot like it. Microarray can test for hundreds of diseases, some well known and some quite rare. Finding something doesn’t mean that L won’t life a long, healthy life; many kids with hypotonia grow up to be pretty typical adults. But it could mean we can find out if there might be any challenges ahead of us (most of L’s therapists and doctors don’t think there will be).
Like the MRI, there’s a chance genetics won’t find anything at all, but I’d rather start with a blood draw. So, I’m excited about this.
But I’m nervous as well. I’ve heard of insurance companies denying this kind of testing because of how expensive it can be, especially if an MRI isn’t done first. I’m hoping that the genetic specialist can help us get it covered.
Earlier this week, L had visits from his developmental therapist and speech therapist, and both gave me news that surprised me.
His developmental therapist said she doesn’t think she’ll need to come out twice a month once L starts school next month, stating she’d like to drop down to once a month. Despite how much progress L has made since January, I wasn’t expecting a drop in services. I like having someone come out to try and work with L and I feel consistency is key with him. I am worried that dropping down to one visit a month might make him less willing to work with the therapist (this happened over the winter when he kept getting sick and I needed to cancel appointments).
On the other hand, we feel like having L in school will be a kind of therapy on its own. He’ll be around kids his own age and he’ll be able to learn from them on a weekly basis. Visits with this therapist haven’t been more than her asking me what exercises I’m doing with L to strengthen his facial muscles. My answer is usually “little to nothing, because he knows exactly what I’m trying to do and he won’t have anything to do with it.” She assures me that this is a normal response from parents of kids L’s age, but it’s embarrassing for me and makes me feel as though the visits aren’t worth it because she can’t give me new pointers. She’s basically coming to see if there’s any improvement, and at this point she could do that on a monthly basis.
The speech therapist came for her last visit this week. She was scheduled to come over three times this summer to help us improve L’s eating habits — which still isn’t perfect but much improved since his yearly evaluation earlier this summer! I know L’s two-and-a-half, but I was a little concerned with how unclear his speech can be. I was assured that L spoke pretty normally for a kid his age, and then the therapist surprised me by saying she heard him say a few phrases using plural words, which is speaking at a 3 year old level. L has never scored above-average in speech and language, and I fully attribute this to being around G and repeating Every! Single! Thing! G says.
L is ending this summer on a high note, which makes me even more excited to see how school will benefit him.