Does anyone have a little one diagnosed with this? How was it diagnosed? When?
damn it, charmed my own post when I tried to reply....... I hate those damn charms.
Jonathan saw a Genetics doc yesterday and he said that the MRI he had last month shows a Molar Tooth Sign in his brain which is an indicator of Jouberts Syndrome. So he might not have Septo-Optic Dysplasia, he might have Jouberts instead. If he does, Jouberts can cause severe Liver and Kidney damage.
There are 4 genetic tests that can be run to identify it, only problem is they cost anywhere btwn 1-2k a piece and he's going to try and get approval for them to be done, otherwise I have to try and pay for them out of pocket.
Quoting zolanmel:aw man. when will you know?
Theres no other way to check for it other then those tests? I hope insurance covers it!
Quoting Jenniy:
There are 4 genetic tests that can be run to identify it, only problem is they cost anywhere btwn 1-2k a piece and he's going to try and get approval for them to be done, otherwise I have to try and pay for them out of pocket.
Quoting zolanmel:
aw man. when will you know?
It presents with a Molar Tooth Sign in the brain as well, Jonathan's most recent MRI showed it. The sign doesn't show up with Septo-Optic Dysplasia, just Jouberts. So now they think he has that instead of the initial diagnosis of Septo-Optic Dysplasia. I looked it up a bit and the only thing that can be done about it is to treat the symptoms as they present themselves. What has me scared is the kidney and liver damage.
Quoting Amy385:Theres no other way to check for it other then those tests? I hope insurance covers it!
Quoting Jenniy:
There are 4 genetic tests that can be run to identify it, only problem is they cost anywhere btwn 1-2k a piece and he's going to try and get approval for them to be done, otherwise I have to try and pay for them out of pocket.
Quoting zolanmel:
aw man. when will you know?
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GIRL NEEDS HELP WITH CATASTROPHIC EPILEPSY
- Jenniy
on Jan. 25, 2011 at 9:13 PM