Advice re possible marfans in 21 year old

[worriedremarfans]

My DS is 21. He has a lot of the physical characteristics of marfans - is 6ft 3 with a BMI of 16.5, very long thing face, high arches etc. He has joint issues and pain and specifically recently has a weird trigger finger thing for which he has been having steroid injections. He's currently under a nhs rheumatology department re suspected auto immune disease e.g. rheumatoid arthritis as a result. In the last few days he has suffered a spontaneous pneumothorax which then recurred after a couple of days.

He has a referral to a respiratory clinic in mid November. He has rung the rheumatology department to ask when his next appointment is and been told due to short staffing they cannot say.

He's now told me that whenever he sees a doctor they always ask him if he has ever been diagnosed with Marfans. I hadn't even heard of it before the recent pneumothorax!

In the meantime I am terrified he is going to suffer another pneumothorax or worse an aortic aneurysm - I now know there is a family history of these from questioning further what heart issues relatives have died of. My own father has yearly screening due to wide aortic valve picked up on some routine check.

Is there anything I can do to get him seen and hopefully Marfans ruled out more quickly. Is it worth going back to GP for instance?

My eldest is having tests through the G.P as he is testing for Marfans, if he has it all my other boys will also have to be tested along with me and DH and our daughter, im 6ft long fingers and toes and all my adult boys are way taller than me.

Like you I'm also tall at around 5ft 10.5. My BMI hovers on the borderline between underweight and the bottom of the healthy range. I have flat feet, had multiple teeth extracted to deal with overcrowding and am very double jointed with consequent osteo arthritis. However no one has ever mentioned marfans to me in the last 46 years and nothing like a pneumothorax or other dramatic health issue has ever happened to me. Someone I know's child collapsed and died suddenly as a result of what the post mortem established to be marfans related heart and lung issues so I'm really terrified for DS now.

Get him referred to your local genetics centre. GP should be able to do this. There will most likely also be a genetic consultant who does private work in your area (google will tell you) if you felt waiting list for genetic appointment via nhs was to long

Our gp referred my son to genetics and screening after seeing his hypermobility and chest during an asthma check. He's also very tall and slim.

He had eye checks and an ecg and lots of measurements were taken of him, myself and his dad by a geneticist. Fortunately the decision was that he didn't have marfan syndrome but its always been in the back of my mind.

He's 6'7 now (19 yo) and still hasn't 'filled out' much.

I have a vague memory that St George’s in south London has a specialist team (I used to work for the med school years ago). Whether you could ask for a referral or you’d have to be officially diagnosed first I don’t know.

This must be the person I was thinking of:

www.sgul.ac.uk/research-profiles-a-z/anne-child

There’s a link to the Marfan Trust, which might be helpful.

My DP was diagnosed at the age of thirty - it was so strange to read a long list of symptoms that I'd always assumed were just loveable quirks. It was only spotted because his mum almost had an aortic aneurysm that was picked up in a routine X-ray.

I get the impression (from MIL and SIL who both have it but look very ordinary) the symptoms can be a lot less noticeable in women, so if your son has it, you also should get a referral, particularly if you think it's inherited from your father.

They all now attend a genetic diseases clinic every year to keep tabs on their aortic measurement. They also take beta blockers. But once they're helping you manage the condition it's nothing much to worry about. The only good thing about having this condition seems to be that specialists find it fascinating, so once you're on their radar, they make sure you get seen.