O/T Medical question Marfan Syndrome Options

[spare time toys]

Does anyone here have a relative with this? Our little girl has been diagnosed with it. They did the echocardio and she has a slight enlarging of the aorta. They said to come back in a year and they will remeasure, I just want to know how this changes things if you have it in your house? She is just not suposed to play high impact sports.

Thanks for any info.

-Larry

[Dr Evil]

That is not a usual diagnoses, indeed. Definitely wait for the geneticist. Marfan's is autosomal dominant = if you have it your kids will most certainly have it. 3/4 of patients have a parent with the disease and the other 1/4 are new mutations. It is caused by a mutation in one protein in the connective tissue. Besides the aforementioned cardio/aortic concerns are also the concerns for retinal detachment. Really, wait until the geneticist checks you guys all out and then remember, as we stated previously, the problems happen on a continuum so just because some bad things happen in the disease does not mean that ALL of them or any of them will happen to your daughter. I find it interesting, though, that her arm span being longer than her height is of concern when she also has what sounds like a scoliosed back which would cause her height to be less. Unless of course they compensated for that.
Docs aint perfect so dont quit until you get all of your questions answered. In the mean time, dont freak your self out reading all thats on the internet, much of it is sensational.