Marfan Syndrome advise?

ThisLivelyRaven · 2025-08-29T13:53:53+00:00

I’m looking for some advice or to hear from anyone with similar experience. My 6 year old son recently had a follow up eye appointment where he was diagnosed with bilateral ectopic lenses. The ophthalmologist mentioned this, along with other signs he had (long fingers, toes, limbs, previous hernia) are all symptoms of Marfan syndrome, and he pointed out that bilateral ectopic lenses is also one. He made an urgent referral to paediatrics, but unfortunately, this has now been downgraded to a general referral, and we’ve been told the wait could be up to six months. This feels like a long time, especially when a potential condition like Marfan's is involved. Has anyone been through something similar, or have any advice on how to navigate this or speed things up? I've already been back on to the peadatrics department with no luck or getting it put back to urgent! I’d really appreciate any advise if you've been through anything similar?

AnnaMagnani · 30/08/2025 06:39

I hope your boy's eyes are OK now.

I've met some people with Marfans as patients and it takes a very long time to diagnose with a lot of tests to do.

Unfortunately I don't think you will get this upgraded to urgent as it's a lifelong condition and if he does have it, the main interventions will be getting him fixed up with regular monitoring. You and he are in for a long process and a lot of appointments and referrals.

Is there any sign that you or his father have Marfans?

Original poster

ThisLivelyRaven · 31/08/2025 09:09

AnnaMagnani · 30/08/2025 06:39

I hope your boy's eyes are OK now.

I've met some people with Marfans as patients and it takes a very long time to diagnose with a lot of tests to do.

Unfortunately I don't think you will get this upgraded to urgent as it's a lifelong condition and if he does have it, the main interventions will be getting him fixed up with regular monitoring. You and he are in for a long process and a lot of appointments and referrals.

Is there any sign that you or his father have Marfans?

Thanks so much for your reply! No signs at all that me or his dad have any signs or his sister! My sister does have EDS which I know is also a connective tissue disorders.
He has the sunken eyes, long limbs, very long fingers and toes and the bilateral etopic lens! Just wondering if we should look at going private or just wait

OP posts:

Not2identifying · 31/08/2025 09:22

Hi,

I don't have any useful information for you but just wanted to say how sorry I feel for your family that you're looking at a 6 month wait. The NHS is truly broken.

Stumbleine · 31/08/2025 09:32

Hello. It's such a worry isn't it? We are having similar with our ds at the moment, but he is 19yrs! There are various signs/symptoms and so he has been referred to rheumatology by the GP. We are not in the UK though and I was told it could be up to a year before he's seen! However, I called and they might be able to get him into a clinic by the end of the month.

Apologies if this isn't quite correct...but I believe the most serious concern is with aortic involvement, which tends to be progressive (so any weakening is more likely as people age). In your DS's case less of an immediate worry I hope? Good luck OP. Hopefully there will be someone with experience to advise.

DameSylvieKrin · 31/08/2025 09:36

It won’t help this time (because you can’t claim in the first 6 months) but as it seems he might have issues more frequently than average you could look at Beneden cover. It’s a bit like a health insurance that kicks in when the NHS wait is too long and pays for private treatment. Pre-existing conditions are covered. It’s £11 per month IIRC.

Original poster

ThisLivelyRaven · 16/09/2025 21:57

AnnaMagnani · 30/08/2025 06:39

I hope your boy's eyes are OK now.

I've met some people with Marfans as patients and it takes a very long time to diagnose with a lot of tests to do.

Unfortunately I don't think you will get this upgraded to urgent as it's a lifelong condition and if he does have it, the main interventions will be getting him fixed up with regular monitoring. You and he are in for a long process and a lot of appointments and referrals.

Is there any sign that you or his father have Marfans?

thank you for your reply! No they are zero signs myself or my husband or daughter have Marfans! My sister has EDS which is another type of connective tissue disorder but not related as far as I can tell

OP posts:

Original poster

ThisLivelyRaven · 16/09/2025 21:57

DameSylvieKrin · 31/08/2025 09:36

It won’t help this time (because you can’t claim in the first 6 months) but as it seems he might have issues more frequently than average you could look at Beneden cover. It’s a bit like a health insurance that kicks in when the NHS wait is too long and pays for private treatment. Pre-existing conditions are covered. It’s £11 per month IIRC.

Thank you so much this is really helpful and will definitely look into thank you

OP posts:

Original poster

ThisLivelyRaven · 16/09/2025 21:58

Stumbleine · 31/08/2025 09:32

Hello. It's such a worry isn't it? We are having similar with our ds at the moment, but he is 19yrs! There are various signs/symptoms and so he has been referred to rheumatology by the GP. We are not in the UK though and I was told it could be up to a year before he's seen! However, I called and they might be able to get him into a clinic by the end of the month.

Apologies if this isn't quite correct...but I believe the most serious concern is with aortic involvement, which tends to be progressive (so any weakening is more likely as people age). In your DS's case less of an immediate worry I hope? Good luck OP. Hopefully there will be someone with experience to advise.

Thank you and good luck with your son and hope you have answers soon

OP posts: