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Diagnosed as Joubert Syndrome. Experiencing muscle fatigue, full body tremors, mouth/tongue tremoring and vision loss. Guidance

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I am in the process of seeking information on Vanishing White Matter - potential dignosis per MRI result about a month ago - - many other tests were done as well. I had initially done some searching based on my observations as Aaron's mom, and knew it seems muscular in nature - severe downward progression in the past 2 years.....(he is now 14 years old, JS diagnosis at 6 months of age). I saw dystonia as a potential answer - (secondary-generalized dystonia)....Is dystonia simply a description that can be seen when white matter degenerates or "vanishes"?? His primary diagnosis is Joubert Syndrome, but the symptoms he has experienced for the past 2 years does not connect with the JS findings or any parents that I have asked on our support list.......much more to this - - many other symptoms he has experienced.....He used to crawl around the house, and could walk while we held his hands above him - he now has trouble even sitting up....absolute muscle fatigue, full body tremors, mouth/tongue tremoring, vision loss, (looks asleep most of the time because of loss of both eyelid muscles in August 2011, much of which does line up with VWM.....I would like any advice on where I might go beyond Cincinnati Children's Hospital (all his docs are there presently, and I also know about info that might be given from University of Washington in Seattle, where major research is being done there on Joubert Syndrome.....I will have access to MRI disk in a few days....I have been encouraged to seek 2nd opinions since some of the tests are coming back "normal"...spinal tap looked ok.....sleep study showed lots of central and obstructive apnea (never an issue before now)...never needed oxygen - also being presented with the possibility of needing a g-tube (again never any issues before).....
Posted Sun, 30 Jun 2013 in Brain and Spine
 
 
Answered by Dr. Gopal Krishna Dash 27 hours later
Please send me the MRI for better guidance
Let me know and send it in YYYY@YYYY
Above answer was peer-reviewed by
 
Follow-up: Diagnosed as Joubert Syndrome. Experiencing muscle fatigue, full body tremors, mouth/tongue tremoring and vision loss. Guidance 8 hours later
OK - I will be glad to send you the MRI. I will be sending back a release to Cincinnati soon. It may be end of next week - I should know more by the end of today if I hopefully get a call back from Cincinnati today - I am now in contact with all 4 departments as to test results. I now know that the delay (as I expected) is due to a lot of discussion among docs involved as to what advice to give and how to interpret results found thus far.

Are you a source with whom I can contact through this process of information gathering? I am not sure how this service works - in other words, what does the $35 that I paid get me?:) Can I e-mail you anytime?

Thanks for responding - would it be helpful in the meantime for me to write down the findings of the MRI report?? I can type that out....I could actually forward you the e-mail I sent to a research group at University of Seattle who does a lot of research on Joubert Syndrome. I may try and do that now....:)

Thanks,
XXXXXXX White
 
 
Answered by Dr. Gopal Krishna Dash 39 hours later
Kindly let me know the details of the MRI. You can send me personal emails also
Best wishes
Above answer was peer-reviewed by
 
Follow-up: Diagnosed as Joubert Syndrome. Experiencing muscle fatigue, full body tremors, mouth/tongue tremoring and vision loss. Guidance 8 hours later
Dr. Dash - I was wondering if there is a fax number to which I could send Aaron's records. I now have all reports that are available. It is about 13 pages of information. I am end these reports to University of Washington in Seattle, (major research on Joubert Syndrome being done there) and I could just send to you at the same time. I am also filling out a release form for them to request both MRI's (done 15 months apart and shows the progressive white matter loss) from Cincinnati Children's. Would you be able to do the same thing in order to receive MRI disk?? Where are you located??

Thanks,
XXXXXXX White
 
 
Answered by Dr. Gopal Krishna Dash 34 hours later
I am in India and I do not have a fax number. I suggest you to take second opinion from a pediatric neurologist from US. If you want to send me the report s, I will analyse and let you know. As the entire illness and reports are lengthy, I will need some time.

Thanks
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