Marfan syndrome

Hi i was just wondering whether anyone has any personal experiences with Marfan sydrome one of my very good friends has just had her 3 year DD diagnosed with with ?

My DH knows a lot about it, he was tested for it when he was younger.

I'll get him to pop in and tell you what he knows when he comes inside.

My best friend's DP has Marfans and another friend has a DD with it too aged 6.

thanks that would be great Mel
Nai does your friends DD have limitations or how does she cope i'm not all that familar with this syndrome but i know Izzy has heart problems and has the pysical appearance of marfans

ok - back - and he is dictating over my shoulder as I type:-

He was always told that Marfans Syndrome was essentially if the body grows and your cardiovascular system can't. Sort of like veins and arteries are therefore stretched and are thinner than they should be. Therefore - it puts a strain on the whole system, if your diet is poor then your chance of having clogged arteries is higher, usually they don't exercise because its too dangerous (that is usually the extreme cases)

Of course with any syndrome it has different severities - the highest level of it doesn't have a very long life expectency - of course - that is MOST severe. Most people with it do undergo treatment of some sort, usually meds.

A person with severe marfans will usually only get to about 45 years old - once the heart goes then you are basically stuffed.
He said to google it cos he didn't research it himself - he was just told this by his doc when he underwent testing for it. He went for testing because some of the telltale signs of the disease he had - ie, like his fingers were longer than his palms - lots of tall people get tested. If they have narrow shoulders - that is also a telltale sign of it. Just out of proportion really.

He is really tall, and had really long fingers (not so much now) but he is in proportion - so he didn't have it. And having a high palette as well.

I'm sure my kids will be tested for it at some point in their life.

Thats about all he knows.

My friend's DD has physical appearance of Marfans and has to have regular check ups. As yet she hasn't got a lot of limitations due to the heart problems but they have to keep a close eye on her. For all intents and purposes she seems to be fairly normal for her age as far as activity etcgoes.

This is from wikipedia:

Marfan syndrome - Wikipedia, the free encyclopedia




Links to non-commercial sites, such as Wikipedia, are allowed now under the guidlines, and save space... :)

thank you so much for your reply's as you could imagine my friend is fairly well freaking out i'm hoping to understand as much as i can so as too help her so thank you again

Its definitely not a nice thing if you are at the extreme end of the syndrome.

:hug: to you and your friend. I hope that this can be controlled by medicine or something so she doesn't suffer too much.

These days if they make sure that they get regular checkups the symptoms can be managed very well and the prognosis and outlook is much more positive than it used to be. Of course there will be things that she can't do but in most respects your friends DD should be able to live a relatively normal life provided she has that regular management.

My uncle has very severe Marfans syndrome. When he was born my grandmother was told to not expect that he would live for very long as the curvature of his spine was so severe that it significantly limits his lung capacity. He has had a very tough time, it would seem both from the physical complications and the social and emotional ones.

He has always looked different (hunched back, long face, fingers and feet, very thin) and because of this has been judged and rejected by many. Those who know him though, know him to be an incredibly intelligent, gentle, thoughtful, wise man - probably made wiser by the adversity he has faced. He was single for much of his life but fell in love at age 45 with a woman who loved all of him, body and mind and who was the most incredible support, advocate and inspiration for him.

He has always had heart trouble and significant pain from the skeletal issues but I think what has caused him the greatest trouble is the curve of his spine (an issue which I understand could have been far more radically addressed by today's medical advances). He has a quarter of our usual lung capacity and struggles to breathe at the best of times. He speaks slowly and quietly, gasping between each sentence which I would think would be extremely frustrating but as a consequence of this being 'forced' on him, everything he says is very well thought out and reasoned. No frivolous speech. Just careful, measured good sense (and wicked good humor!). When he gets a cold, he frequently ends up with pneumonia. He has been so sick that on several occasions doctors said that he might die and on one occasion about 15 yrs ago, we were all told to say goodbye. I don't know how he does it, but each time he pulls through.

I'm telling you this, not to scare you but to let you know that even in someone with a very severe case of Marfans they can live full and fruitful lives against all odds. My uncle is about to turn 60 and he is thriving. He flies airplanes as a hobby and has had a successful career as an aeronautical engineer. A better soul and a wiser man you could not hope to meet. I totally understand why your friends are shocked and fearful for their daughter - this is understandably a lot to take in. Just thought I might share the story of one who has lived with it and done more than just survive.

thank you Kat thats is very inspirational and thank you for sharing with me