From bad to worse……

So we met with thev neurologist this morning from the Cleveland Clinic. Long story short he is very worried about Gavin’s loss of motor control. We were referred to a movement disorder specialist at the Cleveland Clinic that he works with. While we were there they took a ton of blood. Thy are testing him for everything he has never been tested for before. He is running a full genetic work up. Fragile X is one of the concerns he is testing for.

He wants a spinal tap done because he is concerned Gavin doesn’t have enough sprinal fluid. He is concerned because Gavin’s left tempral lobe shows reduced activity and no one knows why. The spinal tap is on hold until we meet with the movement doctor in January. The neurologist wants his opinion first.

We have been trying to persue Fragile X for a long time but the other issues always bumped it out of the way. Fragile X would explain quite a bit of why Gavin is the way he is. Once we know what the problem is we can address it. Until then we will continue to dangle in the wind. It just never quits. It never quits…….

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Sally Nantais

When they run the fragile X test make sure they run the FMR1 DNA test, they should give you CGG repeat numbers, and it should only take a couple of weeks to complete. A chromosome or microarrya analysis can not be used to diagnose fragile X.

And if you have any questions related to fragile X or active listservs – cybersupport please connect with me at Sallyn423 at wyan.org (of course you would remove the spaces and change the "at" to @.

hugs, and good luck,

Sally

Lost and Tired

I will have to check. The neurologist from the Cleveland Clinic order a complete genetic work up. He said about 3 weeks before results. I hope he ordered the right test….thanks for the support and advice… 🙂

Nikky

My heart breaks for Gavin. My hearts breaks for and with you.

I know you will do what you have to in order to get the best possible treatment for Gavin, all the while making sure nothing is done unnecessarily that would be any more trying for him (and you). Know that I am here in any capacity you need, and that I too am learning right along with you guys. I didn't know what fxs was prior to today. :-/

Lost and Tired

Thank you. Fragile x would make sense I think. Good to hear from you again and thanks for being there 🙂

Debbie Tomor

Oh guys I'm so sorry to hear this. Poor Gavin going through all this testing. I really hope they can figure out what is going on with him. Just keep breathing and don't lose hope. Markie is going through from tough things right now too..we are seeing a smig of happiness…but as always we are waiting for the bottom to fall out. Not aloud to be happy for too long. Please keep us informed. Miss you all

Lost and Tired

Thanks Deb. Hang in there. You guys are in our thoughts and prayers. Have a safe and peaceful holiday….

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