Mother's of Marfan Syndrome
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What tests?
posted to General Discussion
in Mother's of Marfan Syndrome
on Oct. 19, 2008 at 1:28 PM
- 2 Replies
- 33 Total Views
My family has a herd of health issues. Son had a severe allergic reaction and while at the ER they found a new heart murmur. Cardiologist said he looks like he has several of the markers for Marfan's, tho not all. He also said that there is a varitable penetrance with the gene expression, so one person might not show much, but someone else might be severe. Son is 23. Daughter and I also have several of the markers he mentions. He said this is highly under-diagnosed and we should be tested. That was about it other than, "look it up and learn about it".
I don't know where to go from here. They ordered an echo, which was done and we're still awaiting results. They also ordered a lipid profile. That was it.
This is all new, never had any signs of anything wrong in his heart before, but he has always tired very easily and not been drawn to anything physical. Hard to know which is the chicken and which is the egg. His palate isn't terribly high, but his face is extremely long as is mine. Do braces change the palate issues? His arms are very long, but I don't think fit the profile completely either. Fingers and toes are long. Some joints are hypre-flexible... some of them. Cardio did the thumb test. We can all bend the thumb until it hangs out beyond the pinkie. Mom is pigeon-breasted, son has a little indent at the base of the breastbone, but it's barely noticeable. Son was extremely large even as a baby. Wore smaller size 2T clothes when only 6 months old and people thought he was retarded because he couldn't talk and was so big. Now he's 6'4", but doc says he may have been stunted somewhat by severe food allergies and malabsorption. Daughter and I were both stunted by thyroid issues, but my mom was 5'7" in the 6th grade, and daughter is only 5'6" and wears size 11 shoes and has huge hands. Daughter and I both have heart valve issues including aortic regurgitation, and I have some dilation as well. I don't remember if she does or not. Both of us are minor and we were told it probably had to do with our thyroid issues. Usually that's mitral valve issues, and ours do go beyond that. I am having eye trouble, but nobody has the dislocated lenses the marfan sites talk about. I have double vision at present tho. Daughter and I have trouble with stretch marks all over and no reason for them. They just appear. I could go on and on, which would be pointless I guess.
Anyway, I'm just really confused. I would like to rule this out as I think it is probably a long shot that it is an issue for us, but maybe it's something related?? That's what the cardio thought. I just don't know where to go from here. Both kids are 'semi-adults' at 19 and 23, so shriners isn't going to want to see them. Our insurance starts over again with big payments in January, so I'd like to try to do this soon.
Any ideas?
Thanks everybody...
Replies:
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- by on Oct. 20, 2008 at 8:10 PM
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WEll unfortunely it sounds a lot like Marfans. My son is four and diagnosed at the age of 2. My husband was dignosed at the time of our son and has since had too have an aortic value replacement.(It is open heart surgery and has not worked since March 07). My son has had two hernia surgeries, and an eye surgery. He has to wear braces on his knees and will have to have more surgeries in the future. My husband went his whole life not knowing about the heart issue but is 6' 4" and very skinny. The doctors said he was classic textbook of Marfans. I know how scarey it is thinking about the diagnoses, but be thankful you have found out. Over the years it has come a long way. I would try to find a teaching hospital that might be running a clinical trail. The mmeds are free for three years and they pay you for the check ups. My son is at Children's Hospital in St Louis. My husband goes to Barnes-Jewish Hospital in St Louis. I know the 19 year old woulff still benefit from the study, I think the age limit is 25, but I am not sure. I would also check out www .marfans.org for more info on this. Have any questions I would be happy to keep in touch. Anyone can send me an e-mail at dama.sand@hotmail.com thanks Amy
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- by on Oct. 21, 2008 at 9:21 AM
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Thank you SO much Amy for replying.
Here's our issue tho... Cardiologist hasn't gotten back with us, but told us to go to our PCP and see about a diagnosis. He also said he didn'thold out much hope for the PCP to have a clue. The only "test" he's had so far is the echo and ekg, some measurements (which were inconclusive but lean toward Marfan I'm told) and a pending lipid test. If our PCP isn't going to likely know what tests to order, I'm stuck. I've been to the National Marfan site, but I have my own heslth issues right now, a FIL in the latter stages of cancer, a hubby needing for a biopsy for the same cancer, and a sick daughter in college. I'm overwhelmed and my new meds are hitting me hard - I just can't think or remember things. I need a list I can print out and I've not found one anywhere. Any help you can offer would be greatly appreciated. This is truly overwhelming right now. It doesn't help that I'm angry that we've complained of these things for years and been ignored. Can't get testing for anything without at least 10 reasons why we think it needs to be done. Very frustrating...
Ellen
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