Could my son have Ehlers-Danlos? Who to ask about diagnosis?

[CN4321]

Hi everyone,

I've joined the group today as I'm not sure if my son has hypermobile EDS and I'm not sure where to turn and what to do next.

He has lots of niggly health issues which I'm starting to think might be EDS (or I could be adding 2+2=5).

Since he was about 6 months old he has suffered horrendously with constipation, he also struggles with mouth ulcers and stomach pain. After years of to-ing and fro-ing with doctors, I took him off gluten last August and he is loads better now.

He also has an overactive bladder - at first we thought this was a result of constipation, but it hasn't improved at all since his guts have been sorted despite medication, Chinese medicine, and exercises.

He is missing the pulleys in his fingers and is going to need an operation to take a tendon from elsewhere to create these in his fingers.

He really struggles with tiredness and has had issues with a painful back ever since he could tell me about it. He does appear to be hypermobile and finally, all his bones crack, when he twists around, his whole spine will crack and he does his knuckles all the time.

A few years ago I mentioned EDS to one of his bladder nurses but she told me at the time that it's very rare and mainly affects girls, she didn't know of any boys with it.

Anyway, I've been reading and wondering if he actually has hypermobility EDS and how I would get him diagnosed. Who do I ask for a referral to?

If he does have it, I feel that knowing would help with some of the medical teams we deal with.

Any help would be much appreciated. Thanks

[jeffsimon]

Contact. ehlers-danlos.org

[Trickysite]

Males can have EDS (my friend says her adult son has it). You need to get him in front of an EDS specialist, not just a rheumatologist. I think there is an EDS specialist in the NHS rheumatology dept at University College London Hospital, if you are in LOndon. You could ring their dept to check his name or it may identify him as an EDS specialist on their rheumatology dept. Your GP could then send a referral letter.

THere is a private Hypermobility Clinic in London. Dr Alan Hakim is an EDS specialist but I think he only takes private clients. I have had a zoom consultation with him.

YOu could try ringing the EDS helpline to help you locate an EDS specialist.

I don't know whether your son's symptoms are EDS, but worth a try. I wish you all the best of luck. Emma

[cyberbarn]

There are over 200 connective tissue disorders, so it is really different to say yes, he has EDS until he has been seen by a consultant. Is he under a paediatrician? That would be the best place to start then they can refer to other places.

And it is not as rare as people think. A peer reviewed paper that looked at medical records in Wales found that 1 in 500 people had symptomatic hypermobility.

This recent review paper may be of some help too:

ojrd.biomedcentral.com/arti...

[Yogibear11]

Maybe get a referal to a genetesist and they can run the Eds panel to work out which EDs he has

[Helsbells68]

My husband and son both have hEDS, so yes boys can have it and EDS is not rare it is just rarely diagnosed

They did a study in Wales and it showed 1 in 500 had JHS or EDS. To be considered rare a disease/condition has to affect less than 1 in 2,000.

An as jeffsimon mentioned contact ehlers-danlos.org, you can join for free and they have a great parent support group on facebook.

[Winter_night]

The EDS Society website is brilliant and there are EDS UK Facebook pages that are active daily.

A GP or physio can now diagnose hEDS using the new hEDS checklist (you’ll find it on the EDS Society website) but from what I know, GP’s are sometimes uncertain or reluctant to not defer to a consultant for confirmation. If a genetic form is suspected an onward referral may be required anyway. As a first step you could look at the diagnostic checklist yourself and I wouldn’t be shy about having a go at adding ticks against what you think applies and bringing this with you to discuss with the GP.

The only problem with the checklist is that it is quite strict but in my experience if someone is ‘on the line’ like I am, it wont stop a diagnosis if other issues that are known to be part of the wider hypermobility spectrum are there also like gastric symptoms for example. It is tough to get in front of a knowledgeable EDS consultant via the NHS at the moment but there are private options if absolutely necessary to move things on (it varies in different areas of the country) and the Facebook pages are a great place to reach out to other parents I imagine. My teens are not birth children and so I don’t have any experience of this as a parent.

Good luck with it, feel free to check back in and let us know how you get on.