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2yr old girl, medical mystery!!
by kaxford, Jul 18, 2008 12:25AM
Hi there, My 2 year old daughter has had many problems sine birth, she can't stand, crawl, talk. She is like a 6 month old baby in a 2 year olds body. I will first by telling you her medical history.
When I was 34 weeks pregnant the doctors discovered that my daughter was suffering IUGR. She had stopped growing at 29 gestation. She was delivered at 35 weeks after being closely monitered. They also found that there was a lack of amniotic fluid and also blockages in the ambilical cord. She weighed 3lb 3oz. This was also my second child and my first pregnancy was absolutly normal.
At about 4 months old I noticed that something wasn't quite right with her. She didn't meet any of her milestones. I addressed these issues with her doctor and was told that she was a premature baby and that she would take longer to meet milestones than other children. By the time she was one, she still couldn't crawl, could not sit up, could barely hold her head up and had no language skills.
She is now two and can only say 5 to 8 words, commando crawl and can only stand holding on to something for short periods of time. She has very little muscle strength although the lower part of her body seems to have more than the upper.
She has had a biopsy for Myopathy which came back clear, an MRI which came back normal although there was a suggestion that there might of been a small pocket of fluid in the middle of the spinal cord. As a few doctors were assesing this, it was a 50/50. Some said it was there and some said it wasn't. Also the top part of her spinal cord was glowing brighter than normal. They would not say what this was as they wanted to do a repeat MRI in 6 months to see if it was still there. This has not happened as yet.
She has had about 20 different blood tests and the only thing they have found is that she tested positive for Ataxia.
She has had muscle relay tests which have all come back normal.
None of the doctors know what they are dealing with. They claim there is no cerebral Palsy.
She is booked in to see genetics next month.
The most recent thing that has started happening is seizures.
This started 2 weeks ago. Her first seizure lasted 20 minutes, when she came out of that one she went straight into another one which lasted 5 mins. Same again, after coming out of that one she went straight into another one and on the way to the hospital in the ambulance started her 4th but was stopped with drugs. She was in Intensive Care. They done blood tests and all that came back was an extremelly elevated white blood count which suggested she was battling a huge infection. They then followed with a lumbre Puncture which came back normal. They never found what the infection was and ordered an EEG for next week.
There is nothing like this in either my husband or my family history. They only thing that is in my family is MS which my granfather has.
If anyojne can please shed any light or suggestions as to what this could be, it would be greatly appriciated. I am sick and tired of my daughter being treated as a science project by the doctors and hospitals. They all claim she is a medical mystery.
PLEASE HELP.!!!
Kirsten.
When I was 34 weeks pregnant the doctors discovered that my daughter was suffering IUGR. She had stopped growing at 29 gestation. She was delivered at 35 weeks after being closely monitered. They also found that there was a lack of amniotic fluid and also blockages in the ambilical cord. She weighed 3lb 3oz. This was also my second child and my first pregnancy was absolutly normal.
At about 4 months old I noticed that something wasn't quite right with her. She didn't meet any of her milestones. I addressed these issues with her doctor and was told that she was a premature baby and that she would take longer to meet milestones than other children. By the time she was one, she still couldn't crawl, could not sit up, could barely hold her head up and had no language skills.
She is now two and can only say 5 to 8 words, commando crawl and can only stand holding on to something for short periods of time. She has very little muscle strength although the lower part of her body seems to have more than the upper.
She has had a biopsy for Myopathy which came back clear, an MRI which came back normal although there was a suggestion that there might of been a small pocket of fluid in the middle of the spinal cord. As a few doctors were assesing this, it was a 50/50. Some said it was there and some said it wasn't. Also the top part of her spinal cord was glowing brighter than normal. They would not say what this was as they wanted to do a repeat MRI in 6 months to see if it was still there. This has not happened as yet.
She has had about 20 different blood tests and the only thing they have found is that she tested positive for Ataxia.
She has had muscle relay tests which have all come back normal.
None of the doctors know what they are dealing with. They claim there is no cerebral Palsy.
She is booked in to see genetics next month.
The most recent thing that has started happening is seizures.
This started 2 weeks ago. Her first seizure lasted 20 minutes, when she came out of that one she went straight into another one which lasted 5 mins. Same again, after coming out of that one she went straight into another one and on the way to the hospital in the ambulance started her 4th but was stopped with drugs. She was in Intensive Care. They done blood tests and all that came back was an extremelly elevated white blood count which suggested she was battling a huge infection. They then followed with a lumbre Puncture which came back normal. They never found what the infection was and ordered an EEG for next week.
There is nothing like this in either my husband or my family history. They only thing that is in my family is MS which my granfather has.
If anyojne can please shed any light or suggestions as to what this could be, it would be greatly appriciated. I am sick and tired of my daughter being treated as a science project by the doctors and hospitals. They all claim she is a medical mystery.
PLEASE HELP.!!!
Kirsten.
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