MARFAN SYNDROME

[MUM23ASD]

Every time i hear/read about it- i think of ds1

he is tall- hypermobile joints- broken several bones in his 14 years.

His fingers are very long and not straight- his toes are long and well separated.

latest was scathoid in thumb- which they said was unusual with his age- and have asked to see him for a checkup 6 months after coming out of plaster- this appt is this month- and i want to directly ask about MARFAN without sounding like i have MUNCHEUSENS.

if measured arms outstretched- fingertip to fingertip- it measures more than his height by 10cm!!!!

he can close his hand so his thumb wraps right under his palm and grasps round little finger.

and i his right side of his rib cage is protruding more than it did before.

he has ADHD and Aspergers

Right, just dug out my old uni books to try and answer/help.
The things you've said so far tie in, often v tall, long limbed and slim, loose joints.
Also distortion of the sternum is quite common (may tie in with your rib-cage problem) also scoliosis (curvature od the spine) common in marfans and can also cause distorion of the ribcage.
Other symptoms to look at: very arched high roof od mouth, causing overcrowded teeth, long slim face, and flat feet, short sightedness.
There are other associated eye problems and heart problems too, so if you do suspect, please ask them.
So no experience, just recited from a book.
HTH

For every od substitute of - must learn to check before posting!
Also, stretch marks are common too.

Ask! Really, you must. If it is Marfan's, it needs to be known for his medical record, in case he ever has an accident/operation.

It is also possible to have the milder forms of Ehlers Danlos syndrome "with a marfanoid habitus"- which means you look like you had Marfan's but don't actually. This is how I have seen dd described in medical files. She has Hypermobility Syndrome (EDS III), but does not have the cardiovascular problems that come with Marfan's.

thanks as always.....just got this gut feeling....

Even if it is a milder type of Ehlers Danlos, it is worth knowing because he may need various degrees of OT or physio and it could affect scar healing if he gets a wound/has stitches.

If it is Marfan's, then the knowledge of him having it and its inclusion in his medical record could save his life one day.

his hospital appointment (to check his thumb/scaphoid fracture has healed) is on 26th November...

Would the orthapaedic/fracture clinic be a good place to raise my concerns.... or should he see GP?

i hope i'm wrong...because, as always the more you google...the more you panic...and ds2 can twist his feet almost 180 degrees...amongst other things....

I would ask your GP to give a referral to a rheumatologist/cardiologist; in fact, he'll probably need to see both. Dd did and was cleared of the cardiovascular problems.

Just wanted to add that the prognosis for people with Marfan's has improved drastically in the last few decades. But the condition needs to known.

DH just told me he has 2 cousins with scoliosis.... and one of their children i know 'has a dianosis' of something- and he is VERY TALL for his age

Remember though that some of the information about Marfan's on the web is out of date and makes the whole thing seem scarier than it is these days. Yes, still scary, but more manageable than it was.

the bit you said "Dd did and was cleared of the cardiovascular problems. " helps... as i guess IF it is the case, and ds1 & 2 have it, then i'd be optomistic as ds1 is 14 and ds2 is 12- and no professional has picked up on it.... whereas i imagine in the severe cases it would not go unnoticed.

I think i am looking very negatively as DH's mum died tonight...

Sending lots of hugs!

If I have understood it rightly, the definition of Marfan's is if you have hypermobility and cardiovascular problems. Dd has the one but not the other so is diagnosed as having hypermobility syndrome (or Ehlers Danlos III) rather than Marfan's.

Oh Mum, I am sorry to hear about MIL (I posted on your birthday pezzie thread), but also glad it didn't go on too long for her . I hope you are all OK xx

thanks cory.... thing is- DS takes methyphenidate for ADHD- which has 'heart' side effects..... and due to extreme weightloss this past year- but much growth in height- the paed has recently halved his dose of meds. (he is 14, 5'10 and now on 25th centile for wieght- over 75th centile for height- weighs just 7 1/2 stone)As a young child he was 75th centile for both.

And- when she last saw him- she asked him to take off his sweatshirt to do his blood pressure- and normally she has left it on ...and she also said she wants to see him 4 monthly not 6 monthly....

so what i'm wondering...has she noticed his boney chest-i also think he appears to have one shoulder higher than the other- which would fit the scoliosis.... however till now, just put that down to teenage slouching.

So have decided, tomorrow i will phone paed and ASK HER OPINION.

thankyou Feeling,

I still haven't seen DH since he phoned to tell me- that is when it will all sink in.

Hi, I've been offline for a while and have just seen this. My dd (5) and dh (39!) have both got Marfan Syndrome. It skipped ds (6).

They diagnosed dd when she was a year old, but only because they knew to look for it. It is not rare for adults to find that they've got a mild form of Marfans after thinking they were just a bit tall and "bendy".

Dd's had glasses since she was a toddler, and started taking beta blockers around the same age. The hypermobility is (literally) a pain, she has prescribed boots and insoles to correct her feet. She gets tired very quickly. She is very tall, I'm not sure if she's still above the curve, or if she's dropped to the 99.6th or whatever that centile range is in the book. Her feet are size 2, a lot of that is due to her toes.

Dh was diagnosed when he was around 12/13. He was about 6'3", and had all of the visible features of Marfans but it was only picked up when he was taken to hospital for something else.

I'd say just bite the bullet and tell the docs what you think tbh. I hate that way that doctors look at you as if to say "what the hell are you on about? It's really rare" ... and as has already been said, it is better to know than not know. IF it turns out that your son has got Marfans, yes it is another thing to deal with but please don't worry yourself sick by Googling. Having regular check ups massively reduces the risk of anything bad happening.

Have a look at this site for advice and info about marfans. Hope it helps.

Thanks for that...the website is great.

I'm even tempted to take my mum along with us to the fracture clinic... as if i am right and it is Marfans... then i'm sure she has it too.

She has always been very self conscious about her 'pidgeon chest'...and her 'long monkey arms' and (like DS....) she has been described as having 'Piano Playing Fingers'