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Regular
Posts: 65
Location: northamptonshire, uk | Hi, just trying to do some research into my daughters problems and although the docs here reckon Anna's hand problems are linked to everything else, they haven't found what yet. Does any other member have any hand, radial, arm or finger anomalies. Anna has radial clubbed hands with bilateral thumb absences. She has a sacral dimple and congenital progressive scoliosis of the thoracic spine. She has been difficult to feed from day one, very little, although this has never been looked into, and struggled with suckling. She has a slow growth rate. Her feet are curved, which she wears piedro boots for. Her legs seem bowed although not sure if this due to scoliosis. Anyone notice anything that seems familiar, I would be grateful for any info. We're fighting at the moment to speak to her orthopaedic consultant regarding a scan to check her spinal cord, as this has never been done. She's 18mths now and her curve seems to be getting much worse but docs don't seem to be listening, as usual. |
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Expert
Posts: 2039
Location: Springfield, Mo. | Have they ruled out the VATER/VACTERL syndrome? It has a lot of those same abnormalities to it. Just wondered.
Tammy
Edited by Hannah's Mom 2006-01-12 11:36 PM
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| Hi,
Does she have the cardial septal defect, I mean is that why they were thinking holt-oram? A lot of the things do seem to go with VATERS,VACTERL as Tammy said, have you tried any of their sites?
I definately vote for continued pestering until they do the MRI of the spinal cord. It would seem very important.
Our dd had an extra half of a thumb, which they had to remove it was on a stalk of skin and had a nail which was growing. They put the thumb in a jar and said they had to send it to the lab to prove that they took it off, and that it was a thumb, to the insurance company. NOt that I was going to keep it. The thumb left is not quite right but it works. It thought it was a finger for a while. Gabi has an extra shoulder bone, extra ribs on one side, and missing and fused ribs on the other. Her teeth are not normal on the bottom row. She has a little widening of the spinal cord in the thoracic area, a hemivertebra at C5 and a butterfly at T5 or something. there was some widening of the spinal cord in the thoracic area, ONe dr. told us that may be why the signals got confused and she got the abnormalities on the one side. My guess is that we will never really know what went on in there.
I beleive Christopher had the pollicization (sp) too.
BTW, Anna has just beautiful eyes!
Mary |
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Elite Veteran
Posts: 833
 
Location: Chittenden County Vermont | Maggie is VATER/VACTRELS kiddo- I found the www.vaterconnection.org site very helpful. Maggie has a right hand deformity- her fingers pinkie to middle are clenched and her thumb hyperextends and we splint it (her hand)- she has been able to open it more now and she uses it. As for feeding, my kid sounds like your kid- its a constant battle. Maggie has maintained her 21 pounds 33 inches for several months and she is 3 years old. Push until you get what you need to know- all of us are behind you 100 percent.
susanne |
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Regular
Posts: 65
Location: northamptonshire, uk | Thanks for all the support. I was really worried about butting in on what seemed like a group which knew each other so well already. But you've all made me feel really welcome. The advice you all give is important, at least it's fact and not dressed up. Anna has had an echocardiogram, when she was about 3 weeks old, which showed the chambers were fine. However they tell me another condition to do with the heart can be linked to holt-oram, known as heart block I believe. Where the frequency of the heart is affected. I was told this can occur later. You all probably know more about this than me. They did take bloods 3mth ago to test for holt-oram and we should have been getting the results about now. Unfortunately they lost the sample! We now have to have it done again. I still do not feel comfortable until a scan of her spine has been done, which we're fighting for. Anna was tested for fanconis anemia when she was born, luckily negative. |
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Expert
Posts: 3970
Location: Plymouth, Pennsylvania | ANNETTE,
I ANSWERED YOUR POST, BUT I DON'T KNOW WHERE IT WENT....
I MENTIONED ZOE HAVING MANY OF THE ANOMLIES LIKE ANNA,
BUT I FORGOT TO ALSO MENTION THE SUPPORT GROUP,
VATER CONNECTION....THEY, LIKE THIS SITE ARE VERY INFORMATIVE, AND HAVE
BEEN GREAT SUPPORT TO ZOE, AND ARLENE, AND OUR ENTIRE FAMILY...
GREAT TO HAVE YOU HERE, AND I LOOK FORWARD TO HEARING MORE FROM YOU....
GOD BLESS... |
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