We recently had our first appointment with a geneticist at the University of Minnesota. Going into the appointment we didn't expect to really find out anything that we didn't already know. We know that JS is a recessive genetic disorder, we know that Leyla's first round of genetic testing came back negative for all of the tested genes, we know that the chances are 1 in 4 that our next child would have JS and the severity can vary. So, Eric and I both went in kind of expecting a quick in and out appointment and we were quite surprised with how it actually went.
The doctor came in to meet with us, the normal, asked us if we had any questions for her, how we're handling the diagnosis, etc. Then she went and took a look at Leyla and asked us a couple of questions, how are her eating habits, what size shoes she wears, things like that. When she was done with her exam she told us that she was going to go review Leyla's MRI images again. After a few minutes she returned and explained to us that the Molar Tooth Sign in Leyla's brain scans wasn't prominent enough to convince her that she has JS and that she'd like to do some more testing for another syndrome, Prader-Willi Syndrome and she would also like to do a complete chromosome test just to kind of Leyla all of Leyla's DNA out and see if we're able to pick out anything out of the ordinary.
We haven't received the results from the Prader-Willi testing yet but, Eric and I have all kinds of mixed feelings about all of it. Our first reactions were...Holy Crap, we are just getting used to the JS diagnosis, figuring out what works for Leyla, how to handle her quirks, how to help her develop, what her future could hold, and coming to terms with all that comes with Joubert Syndrome and now we're thrown this curve ball and would have to learn a whole new syndrome?! We chose not to get all of the information available on Prader-Willi while we were at the geneticist, we just want to wait and see how the tests come back. Obviously, I'm not PhD but, my gut feeling tells me that the tests will come back negative for PWS. Sure, Leyla has small hands and feet, olive shaped eyes, and low muscle tone but, those things are all shared by other syndromes as well. After really looking at the JS characteristics again and comparing to what we know about PWS and the things that Leyla has or does, we really feel like her diagnosis is accurate. So, now we just wait and see how the tests come back!
On a whole other note...in 80 days my baby will be 2 years old! Seriously, where does the time go?!
Jenni
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