Marfans - DS being tested

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Hi just thought I'd see if there are others with DC with Marfans.

After a routine doctors appointment we have been sent to see if DS2 (14) has this condition. No family history as far as I know, so far he seems to fit some of the condition but not everything, we are waiting to see specialists in genetic, heart and eyes and will then see the consultant again in Feb next year.

I do feel slightly anxious as we had a difficult time when he was young and I thought we had really moved on, but now this has popped up out of nowhere.

Obviously I realise it's better to know than not.

Any positive advice would be most helpful.

Hi, some people have a "marfanoid habitus" which means (as I understand it) that they have some of the physical signs of Marfans without actually having it. This often affects hypermobile people. We have hypermobility, including hypermobility syndrome, in our family. One of my dc is very tall and thin with long limbs and long fingers but doesn't have Marfans.

I don't know what triggered the referral to specialists in your ds's case so I don't know if this is helpful or not. Hopefully, someone with more direct experience will be along shortly

Thank you, that's interesting.

I think the GP must have had some experience with Marfans, he is very tall and thin and has long boney finger/feet and quite a long face and a sunken chest, I think the main thing was she heard a heart mummer.

I'd say looking at the report we have from the hospital it's 50/50 I think a lot will depend on what is going on with his heart.