Pediatric Geneticist Take 2

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After our telemedicine fiasco in October, we finally got our visit with a different pediatric geneticist last week. It went just as I had expected and got the test I was hoping for.

The 90 minute commute to UVA wasn’t too bad. I don’t think I’d ever ridden through that part of Virginia before, so it was neat to see what Charlottesville and the surrounding area was like. (It’s pretty, by the way. Just as most people have told me!)

We were put in a room with a kid-size exam table. Have you ever seen one of these? I know it has to be a pain for the adults to examine kids on them, but L was able to get on and off of it without our help. This was so refreshing as I usually spend entire doctor visits helping kids on an off these things. It was just the right size for L to pretend he was the doctor and give his otter lovey a quick check up before throwing him on the floor.

Our visit with the pediatric geneticist via muddybootsanddiamonds.com

The genetics assistant (it could have been a student, I can’t remember) asked us L’s health history, what my pregnancy was like, my health history, Mr Boots’ health history, and our immediate family’s medical history. There was definitely more discussion of medical histories than anything else. I’ve started writing down every little doctor visit L has in a binder, which definitely came in handy this visit.

The assistant then checked L from head to toe. She checked his eyes and lungs. Then she tried giving him simple commands to follow (jump, squat, push) to gauge where his hypotonia is prominent and how bad it is. I say “tried” because L was mostly content to sit on Mr Boots’ lap. She did say his hypotonia is mild. Then she left to discuss everything with the geneticist. They came back about 15 minutes later, along with two other ladies.

The geneticist did his own exam of L, checking his reflexes and taking a look at his face. He said that L has a couple of facial features that could suggest a chromosome abnormality. Both neurologists we’ve seen have said similar things. You really wouldn’t notice unless you were well trained though.

I loved that the geneticist was quick to say that everyone has differences in their DNA/chromosomes. If we didn’t, we’d all look and act the same and what’s the fun in that? Finding an abnormality could give us more information on what to expect as L gets older. Or it could find that he’s very unique and has something that is undocumented. The doctor suggested lab work for two tests: a chromosome microarray analysis (CMA) and a CK.

L had a microarray done back when we met with the first neurologist was normal. However, the geneticist explained that it was a very basic test which checks chromosomes for noticeable differences through a microscope. I think it’s most helpful in confirming a well known diagnosis like Fragile X or Down Syndrome. What he wanted to do was a chromosomal microarry analysis which looks for missing or extra regions of chromosomal material across every chromosome. These cannot be seen with the naked eye through a microscope, and can provide a diagnosis of something lesser known.

L’s first neurologist had tested L’s CK level as well. That result was slightly elevated but no one seemed very concerned. Genetics wanted to recheck to make sure it hadn’t gone up. We got that result at the end of the week. It was normal! I’m curious to know if it went down because L has gotten stronger and has been doing more walking/running/climbing. I know strength isn’t the same as tone, but I’m wondering if there’s a correlation.

The geneticist had the lab draw one extra vial of blood in case the microarray comes back normal. If this happens, there is one more test they can run (WES) which is even more detailed than the CMA. I hope it doesn’t come to that; WES is expensive and I haven’t heard of many insurance companies covering it. But if it does, we’ll hopefully be saved a trip back to C-ville since they’ll already have a vial waiting.

Now we play the waiting game for the CMA results. We were told that the lab would call us if the cost is more than $100 out of pocket. I haven’t received a call, so I’m keeping my fingers crossed we won’t have to worry about that. We were told to expect the results sometime between six and eight weeks from the draw, which should be the end of January or beginning of February. Just in time for L’s next visit with the neurologist 🙂

I definitely felt more comfortable sitting in front of people versus a computer for this visit. I’m so glad I made the switch in doctors and facilities.




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