Marfans anyone?

[drasticpark]

DS age 13 has been referred for investigations into possible Marfans or EDS. Does anyone have any experience of this?

I have had suspicions for a while but he seemed reasonably fit and healthy so I didn't pursue it. I thought he was just tall and bendy with an odd shaped chest. When our GP examined him and told me she suspected cardiac problems and that he must stop contact sports until the cardiac team say otherwise I was more than a little taken aback.

I feel very bemused by it all. I'm a nurse (which doesn't help at all) and looked after patients in ITU with Marfans who were admitted for elective surgery many years ago. There is no history of Marfans on either side and my head is spinning a bit. Maybe Marfans? Maybe EDS? Maybe neither? Maybe he's just bendy with sunken chest and a swooshy heart?

We've just got over the year from hell in 2013 when he had a huge (benign) tumour removed from his neck. It just seems to be one thing after another. Not really asking for anything here, just want to type out loud.

Yes we do!!
Our genetics love my family i have EDS and my husband has marfans its both the same gene just different parts which is "wonky" or thats how we explain it to our daughter!
marfans can be passed down a family line as in our case but it can just change its self.
my husband is monitored every year for his heat and eyes and my daugther who is showing no signs of marfans but EDS she is monitored too and will be till she is 16 or so.
except for the check ups we lead a very normal life doing all the normal things families do the only thing we keep in mind it that we can both be very tied so if we have a busy few days we make sure we have a restful day.
we are very aware that my husband may have to have a heart operation in the future but there are lots of new things coming out so looks good.
the nicest thing on consultant said was " you marfans families are always so happy it may mess a gene up for you but if give you happiness" i thought that was lovley!!
this may not be any help but we are very happy and its not a life sentance as some people think!

Thank you louhan. DS doesn't have a diagnosis yet but he is very hypermobile; taller at age 13 than his father and myself; pectus excavatum; hyper-elastic skin; flat feet and very crowded teeth / misaligned jaw. The doc has heard a heart murmur and his heart is visible through his chest wall - most peculiar. We are waiting to see the cardiologist. There are lots of features of Marfans that he doesn't have though. Not sure what to think. Not sure what we are up against, if indeed anything at all. If he can't play sport then he will consider that to be a life sentence. He is very laid back and stoic about it all. If he was told he couldn't play football I think he would just smile pleasantly and completely ignore.

Sound very like marfans put please tell your son that about 65 to 70% of the basket ball players in america have marfans to some degree! Also there is a area in africa which every one is tall and its because they all have marfans too so its one amazing club!!
Please dont worry (i know thats easy to say ) most marfans adults live to a ripe old age!!