IT'S AUTO PALLET DIGIT SYNDROME
I have this cousin, well actually she is really my mothers cousin, and she had a baby a little over three years ago. Nobody was really sure what was wrong with the baby other than that there WAS something wrong with her at the time of her birth and that she was going to be very disabled.
The baby had a long, thin slender head with a very small chin. Her hands and feet were curled in towards each other, and her arms were so stiff that the nurses at the hospital could barely get them pulled away from her chest to clean and wrap the baby up.
As the baby started getting older she still had failure to thrive. They had a feeding tube put directly into her stomach and that didn't even help the baby gain any weight. They really struggled with this poor little child for some time.
They had several medical test done to try and find out what was wrong with the baby. Chromosome and other tests came back fine but they still didn't know what caused this problem with the child.
Recently, for some reason, my moms cousin took her daughter to a doctor in Bismarck. He is a foreign doctor and after seeing the child, some light went off in his head and he realized that he had seen one other case like this before when he was in Africa.
It turns out that the baby has Auto Pallet Digital Syndrome. There is only 50 children in the WORLD that have this syndrome and are alive today. What understand is that most of these babies die very young, within the first 5 months, because of the failure to thrive. It's amazing that her child has lived to be three.
The doctor is going to the baby on injection medications that will help her. They will not cure the condition but it should stop if from getting much worse too quickly. I have tried to Google the syndrome but can't find it anywhere. Because this is an extremely rare syndrome we don't really know much about how long the baby will actually live and if the injections will guarantee a much longer life.
I know that most of you out there in my blogging community know the cousin and baby that I am speaking of. Some have even recently asked how the baby is going. I thought I would pass the word along.
The baby had a long, thin slender head with a very small chin. Her hands and feet were curled in towards each other, and her arms were so stiff that the nurses at the hospital could barely get them pulled away from her chest to clean and wrap the baby up.
As the baby started getting older she still had failure to thrive. They had a feeding tube put directly into her stomach and that didn't even help the baby gain any weight. They really struggled with this poor little child for some time.
They had several medical test done to try and find out what was wrong with the baby. Chromosome and other tests came back fine but they still didn't know what caused this problem with the child.
Recently, for some reason, my moms cousin took her daughter to a doctor in Bismarck. He is a foreign doctor and after seeing the child, some light went off in his head and he realized that he had seen one other case like this before when he was in Africa.
It turns out that the baby has Auto Pallet Digital Syndrome. There is only 50 children in the WORLD that have this syndrome and are alive today. What understand is that most of these babies die very young, within the first 5 months, because of the failure to thrive. It's amazing that her child has lived to be three.
The doctor is going to the baby on injection medications that will help her. They will not cure the condition but it should stop if from getting much worse too quickly. I have tried to Google the syndrome but can't find it anywhere. Because this is an extremely rare syndrome we don't really know much about how long the baby will actually live and if the injections will guarantee a much longer life.
I know that most of you out there in my blogging community know the cousin and baby that I am speaking of. Some have even recently asked how the baby is going. I thought I would pass the word along.
posted by Janelle @ 12:33 AM
2 Comments:
At October 16, 2006 at 11:24 PM,
Mr. Toast said…
It is a congenital birth defect called "otopalatodigital syndrome", the word being derived from:
oto - affecting the ears
palato - most children born with this have cleft palate
digital - the disorder also affects the fingers and toes
You can find a lot of information on it by clicking here.
My best wishes for your cousin and her baby. They will be in my prayers.
At October 16, 2006 at 11:37 PM,
Mr. Toast said…
PS: The one glimmer of hope may be that the condition is typically much less severe in females than in males. There is a support group for families facing this disorder called the OPD Family Resource Network, and your cousin may be able to get some help there.
Good luck.
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