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Dr. Andrew Rynne
MD
Dr. Andrew Rynne

Family Physician

Exp 50 years

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How Can Microdeletion Syndrome Be Treated?

my son will be 2 in July. he has a rare chromosomal disorder call 15q-24 micro-deletion syndrome. He was IUGR and delivered at 35 weeks because of his size. he was then failure to thrive because of his size. along with this we thought he was deaf for the first 12 weeks of his life. he had tubes placed and it was determined he was not deaf but rather had an excess of fluid built up in his inner ear that was causing his temporary hearing loss. at 7 months old he had a partial seizure that lasted 30 minutes to an hour and progressed into a partial seizure. he was admitted to a childrens hospital and they said there was a possibility of a stroke. he was then rushed to the university of Michigan children s hospital. there it was determined that it was not a stroke but a long seizure that created a spot on his mri. we then did chromosomal testing and found out that he has 15q24 micro-deletion syndrome. after seeing many specialists at the university of Michigan children s hospital that range from a gi specialist for his size, an audiologist for his hearing, an ent for his tubes, an orthopedic specialist because of his late walking and his gate, a neurology team for his seizures and a geniologist for his chromsomal deletion he has been cleared from most of them as healthy but with a chromosomal syndrome. for the last 3 months he has been doing this thing we are calling episodes that are odd and very worrisome. he will stagger up to us trying to speak but he cant, he starts to drool and his heart is racing. he is cold to the touch but sweaty. after the episode is over he starts to sweat and gets tired. he never falls down during these episodes but does sometimes cry for a short time afterwards. when these episodes first started we told the neurology team at u of m. they had his come in promptly for a 6 hour eeg but the doctors said that the results were fantastic. there was a slight lag before from the prolonged seizures in his left brain and that was gone and the eeg looked great. we are not sure where else to go and the neurology specialists said they were not sure where to go next either but this is not normal and something is happening for him to do this. any help would be greatly appreciated.
Mon, 22 Oct 2018
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General Surgeon 's  Response
Hi,

Consult geneticist and get evaluated. Keep in mind that complete cure is unlikely.

Hope I have answered your query. Let me know if I can assist you further.

Regards,
Dr. Shinas Hussain,
General & Family Physician
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How Can Microdeletion Syndrome Be Treated?

Hi, Consult geneticist and get evaluated. Keep in mind that complete cure is unlikely. Hope I have answered your query. Let me know if I can assist you further. Regards, Dr. Shinas Hussain, General & Family Physician