Marfans syndrome

[AJosh]

Hi I just wondered if there is anybody here with a child with Marfans syndrome? My son diagnosed approx 18mth ago by geneticist, has prolapsed aortic valve, hypermobility of joints, constant backache and headaches, eyes are ok at present but muscles weak supposed to do physio for eyes and body but refuses because he is so tired after all day at school plus homework. Don't know what to do to encourage him to do physio, if doesn't do it physio have told him he could have permanent soreness and pain in all joints in later yrs, he is 9yrs at mo.Still seeing all necessary consultans peadiatrician, heart specialist, no orthopeadic check in over a yr now, hammer toes are bad but wears gel toe crests but not helping much now, also feet flat, wears support splint on right leg and heel cup on left foot, special suppport boots. He gets tired so easy which then leads to terrible moods, to me he appears really fed up borderline depressed about the whole thing bless him. Any help or advice please.

Hi, my daughter is 7 and has Marfans, so does my dh.

My daughter shares a lot of the problems that your son has - her mitral valve is a bit floppy rather than her aortic valve, and she has DAFO splints and oversplint boots.

I can understand all of what you said about your son seeming depressed and tired. I think a lot of it comes down to pure tiredness, and always being in pain somewhere. I have had times with my daughter when I have honestly thought that she had behavioural problems as well as Marfans. If your son is taking medication, eg, beta blockers, they can make the tiredness and mood swings worse. My daughter has been put on Lisinopril instead.

I joined in on the HMS/EDS thread on here, as those conditions are very similar to Marfans (and it isn't that often that you bump into people with Marfans, is it?) You would be welcome on there too.

Also, if you are on Facebook, there are a few support groups on there too. They are for parents as well as for people with Marfans. I am on there, and have made a few good friends and we end up helping each other. If you get chance to, have a look (or message me on here if you can't find us).

I know of two children with a different disorder who need daily physio and who do it at school with a TA while other children are doing PE or other subjects they can't do. COuld that be a good solution for him. He may be more willing to participate if it's part of the school routine and if they do it earlier on he'll be less tired.

Hi to you both thank you so much for responding. Firstly Alison they've been looking into doing his physio in school for well over a yr, but bearing in mind the school knew he needed physio in school july 09 they didn't apply for funding from lincolnshire education authority til july this yr and still have not had a response, so still waiting it does your head in, they are so slow.
Deepbreath that would be excellent to find you on fb I am on there. He isn't on any medication all they said was once heart prolapses to 5cm they'll do repair valve surgery no mention of beta blockers unless it suddenly deteriorates I suppose.Yes I can agree about this behaviour business I pulled my hair out with him from birth til 5yrs after started school he calmed a fair bit but we still get it when he's tired. He never slept only about 2hrs a night til he was 4yrs then suddenly went through the night.I was exhausted and so was he but he never seemed to give in and crash out. He had an hernia op at approx 2yrs which i've since learnt goes along with th marfans. When he was born the midwife commented on his long fingers and cold hands and feet which we could never warm. We accidentally got a diagnosis when GP referred us to see an orthopeadic surgeon cos of state of his feet and toes,and then it was his undersudy who suspected it and insisted consultant saw him, he said highly unlikely, he had to repeat marfans 3x before i got what he said, so in the end he said dont worry ill write it down go home google it but dont have nightmares,he explained nothing,obviously i googled it and went into panic mode, it was a yr later before definite diagnosis. Useless NHS system for ya hey/

I am sorry you are having such a difficult time. My ds has eds rather than Marfans, but as deepbreath says there are some similarities btw the conditions. I can definitely relate to your description of NHS and education system. Whos care is your ds under at the moment, can they request an ortho appointment for you? Please come and join us on the eds thread if you haven't already.

Hi Sparkle, sorry only just got on here since yesterday. He is under several specialists so unsure which one to ask about ortho appt. If you don't mind my asking what is eds? Ive noticed others have mentioned it. I did try to e mail this Dr child that others have mentioned but it just kept saying spelling error in address, wouldn't send, as i wondered if would be a good idea to get a second opinion from her.

Ehlers Danlos Syndrome is a group of connective tissue disorders of which there are a few types. The ones that particularly affect people on here are hypermobile type, which has symptoms of hypermobile and sometimes painful joints, as well as other complications which we as parents are discovering all the time. Vascular type affects the heart in particular, although can have hypermobile joints too. There are a couple of website which are helpful which I have posted already on the eds hypermobile thread, if you can't find them let me know and I will find them again for you. How are you doing anyway, how are you feeling?

Rheumatologists are a good place to refer to Orthos? Have you got one of those in your group of lovely medic?

HI Sparkle, sorry been a while getting back to you been busy cleaning and doing more research lol, ya know how it is.

Have to admit I thought I'd read a fair bit on all this but the last few days I've discovered more, I was unaware Marfans affected behaviour, sleep patterns when babies and toddlers and I was unaware we were even supposed to still be seeing an ortho surgeon and have never seen a rheumatologist, do you think I should ask my GP if he thinks I should of seen one, but saying that my GP admitted he knew nothing about Marfans so will he even know if we need to?

I'm not too bad thanks, tired but that's nothing new is it :)

How are you?

I would definitely ask your gp for a referral to a rheuamtologist. He should at least know it falls under their juristiction (sp?) I know that they often dx marfans, and they should be able to take overall care for your ds, and ask for input from other consultanst where it crosses into over medical disciplines. That is what is supposed to happen in theory, in practice if your experience is anything like mine, you will have to take control and keep putting pressure on everyone else to do their jobs. I do hope you have a better experience, but prepare yourself! I was dx with eds 20 years ago, my ds 6 years ago and I learn new things about it all the time, and often have to tell the consultants/physio etc.

We have had a bad week, lots of pain and upset, exhausted like you. But today the sun is shining, all the dc are at home with me, so I take my good moments where I find them at the moment.

Ok thanks Sparkle I think I should pay a visit to my GP and discuss a few issues with him e.g rheumatology referral and I'll run it by him about seeing this Dr Ann Child that everyone keeps mentioning, apparently meant to be op of her field this marfans.

Like you say we seem to keep learning and I do mention what I've heard and learnt to his specialists but they look at me blank as if to say excuse me we're the doctors, but like many people including yourself have said they seem to know so little about this you.d think they be pleased of any added info but they don't seem to be.

I hope you have a better week this week bless you.

Went to see GP yesterday, not much joy though he is referring me to see Dr Child in London but said didn't know if their funding will cover it, so not sure at mo till hear from her whether she'll see Josh or not, spose depends on funding as i certainly can't afford to pay to see her. Hope all is well with you?xx