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Dr. David
Dr. David, Board Certified MD
Category: Medical
Satisfied Customers: 45906
Experience:  Board Certified Physician
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Do you know of any specialists in digeorge syndrome in Eng

Resolved Question:

Do you know of any specialists in digeorge syndrome in England
Submitted: 2 years ago.
Category: Medical
Expert:  Dr. David replied 2 years ago.
This is Dr. David

here is good information

http://www.patient.co.uk/doctor/22q112-deletion-syndrome

are you looking for a heart surgeon or a genetics counselor?

what type of specialist are you looking for?
Customer: replied 2 years ago.
Looking for someone who knows about the syndrome, how to manage some of her symptoms as as the moment she is being admitted to hospital regularly due to sickness and dehydration. She also had a seizure although her calcium was ok.
Expert:  Dr. David replied 2 years ago.
this is a very rare syndrome

most doctors will not have experience with it

there might be specialist like heart specialist or genetic specialist who know about the syndrome

but these specialist may not be taking care of the patient for routine hospitalizations and management of symptoms.

so as you can see, I'm sure you understand this difficult situation.

seizure issues should be evaluated by a neurologist who can treat seizures and recommend antiseizure medication.

dehydration is a common medical issue

is she on antiseizure medication? has she seen a neurologist?
Customer: replied 2 years ago.
She was prescribed an epilepsy drug but she has only had one seizure so we want to wait until she she's a neurologist in the next month or so. I have also arranged a private consultation with an endocrinologist. Do you think there is anything else I should be doing?
Expert:  Dr. David replied 2 years ago.
endocrinologist is a good idea

they can check the calcium levels and parathyroid hormone levels

she needs to see a cardiologist as well and get heart evaluation.

heart deficits can occur in Digeorge syndrome as well

she might need speach therapy and physical therapy and phychotherapy as well

best of luck to you

let me know if you have other questions.

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