Possible Marfan syndrome in 12 yr old.

[PollyGasson24]

Have just been to GP who referred us to a specialist for diagnosis. Turns out the specialist isn't taking new patients atm so we need to phone back in July. (GP warned me there would be a wait, but to persevere, as it wasn't urgent.)
Have obviously googled, and am wondering if there is anything to watch out for/be careful with in the meantime. DD seems pretty healthy, intense swim training once a week, but otherwise just general family walking and school sports as exercise. Should I mention possible heart issues to school? GP listened to her heart and said she'll need an ultrasound, told us to come back if anything happens in the meantime, but didn't say anything about modifying behavior or anything.
Anyone have Marfan's in the family and have any advice? Thanks in advance.

Bumping

We don't have Marfens but have a family with Eds type 3 which is quite similar !!!!

What symptoms has she got? Paediatrician was wondering if DS might have Marfan syndrome too.
Might be worth contacting the Marfan society and asking advice www.marfan-association.org.uk/index.html

Hypermobility in joints, eye issues, v tall and gangly for her age (has been all through school). Another (directly related) family member has scoliosis, a different one has flat feet... All related symptoms, and as it can be inherited, another possible indicator.
I'll take a look at the website, thx NK. Is your DS being tested?

DS arm span is more than his height, he is tall, very thin, high palette/overbite, flat feet, long fingers/toes and hyper mobile, dent in chest, no eye issues apart from mild short sightedness, heart wise he has many echoes nothing picked up there related to Marfans.
At the time paediatrician muttered something about it but he was under investigation for cystic fibrosis,which was obviously worrying me so I didn’t ask more, but at his next appointment I am going to ask her if she thinks he should be tested for it.

I'm one of four siblings and have been monitored since childhood (now closer to 40), one has been officially diagnosed the other two are almost certain and I seem to have dropped off the bottom as unlikely.
If there is nothing the gp can pick up as an immediate issue (like a concerning heart murmur) then they tend to just keep on eye on a variety of things and apart from my sister with a heart murmur nothing was ruled out as activities to avoid and the heart ones were things like skydiving and other similar extreme sports.

Once referred they will do regular as in every year or two heart checks, ultrasounds and ecg's as one of the marfanes risks is the arteries stretching and thinning.
Regular eye checks that the normal optician should be able to do as there is a risk of the lens dislocating and generally needing glasses is more common.
The hypomobility you have mentioned, this can be a positive as long as it doesn't get to the point of things easily dislocating.
Flat feet is very common and some level of mild scoliosis is higher than in non marfanes people.
Cysts or bursers (fluid pockets) can also develop later in life as the joints come under more wear and tear.

Not sure if it's still something that is a concern but worth mentioning to the dentist as it was said that dental treatment was an easy in for infections that could stress the heart.

Don't take any of the above as things that are likely to happen, the risks are still small even with marfanes and things that tend to develop slowly enough over many years that will be picked up early.

Hope it's not too long a wait for you both.

Thank you lemming, that was really informative and a bit reassuring that I don't have to worry too much just yet! I guess best case scenario is that everything is unrelated but seems unlikely now we have to go for a heart ultrasound. Still, at least we know to have regular checks now.

Hope you get some kind of diagnosis nk.