diagnosing hypermobility syndrome in a toddler?

[Maranello]

I have Ehlers-Danlos syndrome III (joint hypermobility syndrome) and know there's a fairly good chance I could pass it on to my dc - not sure of precise probability, though. So I'm aware that I'm probably looking out for signs in my dc.

DS is now 2.6 and I think he's definitely hypermobile (as in he has hypermobile joints, not necessarily the pain and other associated problems that come with the syndrome). He's very flexible, sits in the W position, etc.

But recently he's said/done a few things that have worried me a bit - he often mentions that his arms hurt, pointing to his elbows. Sometimes he's a bit stumbly when he walks, especially after a run-around - his ankles and knees sometimes seem to buckle a bit. He has very flat feet.

I wasn't diagnosed properly until I was in my 20s, even though I had had daily chronic pain since the age of 12/13. I was diagnosed by Prof Grahame at UCH and have done a pain managment course; fortunately I mostly self-manage these days. But this does mean I'm not "in the loop" for knowing how best to get ds checked.

Anyone with any experience? Would you get him checked out? And should I insist on a referral to someone?

TIA

Hi

I need to get my son and I tested for this aswell. Your best bet is to pop him to the GP and take it from there. He needs some support for his feet as they could end up getting worse, my son is 11 and his feet are exactly the same, he is currently having physio to strenthen the muscles in his legs and wears insoles in his boots, he can't wear shoes as he falls over alot due to the laxity in his ankles. It's better for him if you get this looked into sooner rather then do what I have done and wait until someone else spotted his feet. I check his shoes fit, check he's clean etc but didn't spot his flat feet until it was pointed out to me. I think mine is cardiac aswell, I have always been very pale and have pretty much constant blue lips and fingernails, occasional short breath and a really sharp pain in my chest that lasts for a second or two.

HTH.

Thanks Belle (sorry, been unable to get to the laptop!).

Yes, the flat feet do worry me, and I figure that even if it's not a sign of something more complicated, it's worth addressing it for its own sake. Sorry to hear your ds is having trouble, hope the physio helps.

I'd definitely get yourself checked - mine isn't cardio, thank goodness. Good luck!

have a looky here

I will.

You need to get your little ones feet checked, the first step is the GP. Don't get an orthopedic referal unless it's to arrange for the orthotics, ds saw them, the consultant was considering operating on his legs, he would have cut both femurs in half, rotated them and pinned them back together. He had no idea about hypermobility, it was only through my questioning that he agreed to send ds for a gait assessment first which confirmed that his femurs were not rotated. I'd say a rheumatologist is your best bet.

I'd go to the Gp and ask for referral to Paediatrician, they should be able to diagnose I think. Our Paed certainly diagnosed DS with hypermobile joints.

Belle-that's really interesting. My GP referred us to an orthopaedic surgeon as she could see DD had a very odd gait and was experiencing pain.Orthopod said she was just "clumsy" and dismissed it.
I then took her privaetely to a podiatrist and at huge expense (I need to retrain!) she had orthotics made and for a while,improved.
Improvement has slowed now,she walks like a flat-footed duck and complain of pains in her legs if we walk ANY kind of distance.

Have no idea where to turn now......

I know this sounds silly but ds is having pilates lessons which really help as it's building the muscles up in his legs, back and ankles. The boots were the best thing that I have found for him though, his falls have been reduced from 3+ times a day to maybe once every few days. His feet are as flat as pancakes, the maleolus (bottom of fibula) is almost touching the floor when he stands or walks as his feet just crumple inwards. Your daughter would really benefit from some boots and some exercises to build the muscles up. I have to make sure I'm going at ds's pace when he walks because he gets tired and has painful legs/feet aswell. He has tight calves so he doesn't walk putting his heel down first so we are working on this.

Thanks AF, I scored 9 when the consultant did those tests on me [weirdly proud emoticon]. I'm not sure how many of them would apply to ds - even if I could get him to stay still long enough, I feel a bit nervous trying to bend his joints too much just in case things are a bit unstable.

Guess I will give the GP a try, even if just to address the flat-footedness. I've hesitated because GPs can IME be a bit useless on things like this - a lot of HCPs I've come across haven't even heard of Ehlers-Danlos. One GP who had heard of it asked me if I could bend my arms backwards; when I said yes, he said, rather too excitedly, "go on then!" I pointed out that it kinda hurt...

Belle, pilates doesn't sound silly - it's the only exercise that's ever done my joints any good. Can't do it at the moment, unfortunately, as have new baby, but will start again asap.

Pilates is good because it strengthens core stability muscles

Paediatric physiotherapists would recommend it

I can go weird things with my legs, I can twist one foot around so it faces backwards, I don't think this is normal

hmm, I'm not a good judge of what is normal as I often assume everyone can do the (actually quite odd) things I can do with my joints... but Belle, I think that is really quite weird

Why thankyou!! I can also walk with both feet pointing inwards. It does look rather odd.
Ds thinks we should both be in the circus!!

Great advice Belle-I have just started pilates and I really do think it would help DD.Am going to go back to the GP and get referred to......???? someone other than an orthopaedic surgeon-any suggestions?

whooosh...a paediatric rheumatologist

what area of the UK are you in ?

A physio would help aswell whoosh, I don't know if she'll have to see and orthodedic tosspot dude to get a referral for insoles/physio. A gait assessment would probebly help aswell, just to make sure her problems are not being caused by rotation of the femurs.

GP can refer direct to phsio in some areas

So can general paediatrician or rheumatologist

sorry, meant physio

Would a physio be able to give a formal diagnosis or just treat? If ds has got Ehlers-Danlos too, I'd definitely like it to be official IYSWIM, so perhaps that'd need to come from a paediatrician/rheumatologist?

A physio can give you a clinical opinion and treat accordingly

Tbh though, an official diagnosis would have to come from a doctor, although doctors very often ask for reports/assessments from physios before they make their decision IYSWIM

Your ds needs to see a rheumatologist Maranello, he'll need a genetic test to confirm this aswell. A physio will just confirm hypermobility and sort out the exercises. Ds's physio has recommended that I take ds to the GP about his painful legs as she thought it was a blood supply issue, she didn't say what though. I googled hypermobility and found Ehlers-Danlos and the penny dropped, I have cousins who have no cartilage in their noses so they are flat, their mum (my aunt) died a few years ago of a really weird cardiac problem.

AF: Ehlers-danlos is a type of hypermobility syndrome but it's a genetic problem, a chromosomal abnormality. Patients with this have connective tissue problems including mitral valve prolapse, excessively stretchy skin, bowel problems etc. It needs genetic testing to confirm it.

en.wikipedia.org/wiki/Ehlers-Danlos_syndrome forgive me for using wilkipedia!!

belle...yes, thank you

I said there would need to be a doctor's official diagnosis

a physio's assessment would be only part of a consultant's complete range of tests

I am not sure what your point is ?

Sorry, I thought you were talking about hypermobility syndrome not ED.