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Genetics  (Expert Forum)
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puzzled
This forum is for questions and support regarding Genetics. This forum is for questions and support regarding a person’s predisposition to a variety of medical conditions such as Alzheimer’s Disease, Blood-clotting Disorders, Breast Cancer, Cystic Fibrosis, Diabetes, Marfan Syndrome, Ehlers-Danlos Syndrome, etc.

puzzled

by psalms9212, Jan 05, 2008 02:48PM
My niece is 4 years old and in Egleston Childrens's Hospital in Atlanta. She has had 2 episodes in the past 2 months and ended up in ICU each time. She has vomited and we assumed she had a virus. Within a few hours she has ended up with a glucose level of 17 and in a comatose state. This last time it was 32. Her liver and pancreas are swelled. Many tests have been ran and doctors in all areas were standing by to see which would be needed. She was in the process of a 48 hour fast with glucose staying level. Her blood drawn every 2 hours. Last night we were told that they were stopping the fast not wanting to subject her to any more testing. The doctor said we are dealing with a much bigger problem than originally thought. The lab results show muscle breakdown, high levels in the creatine and LDH. Her metabolism is out of whack. After a cat scan she may go home this weekend with close monitoring of glucose levels and if below 50 or vomiting return immediately. She said that now it would be turned over to a Genetisist. Any ideas of what we are dealing with?
Member Comments (2)

by lula_only, Jan 07, 2008 04:37AM
hi
have ur doctors considered myoglobinurea or glycogen storage disorders?

by psalms9212, Jan 08, 2008 08:45AM
To: lula_only
I am not sure. I know that they have gotten back the cat scan results and found that her liver is still enlarged. They aren't as concerned about that as they are that the liver is bent over, folded if you will?
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