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Conditions and Diseases > Neurological Disorders Forum > undiagnosed degenerative brain disorder
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Q: undiagnosed degenerative brain disorder
asked by: seths mummy on April 19th, 2008
New User
Hi. My baby is 7 mths old and until he was 4 mths old had had no real problems apart from reflux. It began with seizures and involuntary movements which became more and more frequent. The seizures are being controlled with meds but the involuntary movements cannot be controlled. When Seth is awake he is moving continously and can only get respite from being asleep which has to be induced by sedation medication. He has no development and is like a new born baby. 10 weeks ago he lost the ability to feed orally and now has a gastrostomy. MRI scans have shown the brain has already started to degenerate but after every test possible we still have no diagnosis. We are devestated as you can imagine but having a diagnosis would possibly help us try and accept this situation. Does anyone have any ideas or experience with this sort of thing. We have nobody to talk to and are finding the unknown very difficult to deal with. We also have a 2yr old son Bailey who is fine. Sad
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nightangel73
replied on April 19th, 2008
Extremely eHealthy
I'm so sorry to hear about your son. I can only imagine how terrible this must be for you. I don't have words but to say to you that when this difficult times come to us the best is to hang up to God. I will have you and your son in my prayers.
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merin1
replied on June 27th, 2008
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Hi, I was just wondering how your little boy was doing. My little girl is 7 months old and sounds exactly like yours. Scout was fine except for reflux and failure to thrive until 3 months old when she started having seizures. Since then she has gotten progressively worse, and when she is awake she is constantly moving, crying, and generally flailing around. She has these very strange movements, kind of repetitive type movements and is rarely still. She is also on a sedative to help her sleep. She has met no milestones and is also like a newborn. She has had every single type of metabolic/ neurological test done, and everything has come back normal, including her MRI/ CT scan. It is so frustrating and I feel helpless as the doctors have no clue what is going on with her. Please let me know how you are doing , I know that I am constantly searching for someone in my same situation and can find almost no one!
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CabDriver
replied on July 15th, 2009
New User
Did he gat tested for Santavuori-Haltia disease?I was wondering because it fits:failure to thrive,seizures,restlessness,myoclonic jerks
Mucolipidosis type II could fit too
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