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Urgently need to find a Paediatric EDS Specialist

(9 Posts)
moosemama Tue 01-Nov-16 22:37:36

Ds2 has been deteriorating rapidly over the last few weeks. We have a rheumatology referral to the local Children's hospital, but have been told it will be 18ish weeks before he's seen there.

In the meantime he's working with a private physio and is on crutches for an ankle impingement that resulted in synovitis and he'd only been back at school two and a half days from the ankle injury when he dislocated his shoulder in school and we had to pick him up and take him to A&E.

Fracture clinic follow up was dire. Ortho Surgeon that saw him first denied he could have fully dislocated his shoulder as it went back in on it's own before he was xrayed. He stated that could only happen if he was hypermobile (he clearly hadn't read the notes, just looked at the xray and made his mind up). He roughly examined ds, declared him 'not that hypermobile', which is rubbish, he didn't check him properly and didn't check the joints where ds is most affected, massively increased his pain, then told him to keep his sling on for another week and then go back to see him, at which time, if he was still in pain (which he is) he would probably order further imaging. He was rude, aggressive and dismissive and made ds feel like he thought he was lying about his injury and pain. (The school secretary, myself, my mother and the A&E nurse all saw his shoulder when it was clearly dislocated. My mum in particular knows exactly what to look for, as she regularly dislocates her own shoulders and it varies whether they eventually move back on their own or she need medical involvement.)

We were supposed to go back to fracture clinic today, but dh was called to an urgent meeting (no choice, attend the meeting or job on the line), which meant I couldn't get ds2 to the appointment, pick up dd from school and be home for my eldest to arrive home (he is on LA SEN transport). The next appointment they offered us was 28th January!

He's on one crutch and in a sling. He can't write because it's his writing arm and he can't write legibly with the other and he's missed far too much school already.

We decided to go private to get him seen and rehabilitated as obviously we can't wait till January to see an Ortho Surgeon who clearly doesn't understand hypermobility anyway. We thought, if we're paying anyway, it might be a better idea to actually get him properly assessed and diagnosed, rather than just functionally fit. (Background is his grandma is awaiting genetic testing/counselling because she was recently dxd EDS and has cardiac and vascular involvement. I am hypermobile, probably/realistically JHS, but undxd despite lots of joint issues as a child for which I was under consultant care and have POTs and Dysautonomia. My cardiac checks were clear, thankfully. So we do need to be sure of exactly what is going on for ds, rather than just assuming EDS III/HT and self-managing as we have previously.)

Everything I read and everyone I spoke to said go to the Hypermobility Unit at St John's & St Elizabeth's in London. So that's what I did - only they can't take paediatric cases at the moment and the best they can offer is a specialist physio assessment. That would help with the immediate mobility and rehabilitation issue, but not with the formal dx or further investigations and it's a long way to go for a physio appointment unless we really can't get a physio with hypermobility awareness closer to home. They also told me that there is really only one paediatrician in the UK who is really up on EDS, that they only take NHS referrals and are London based, but wouldn't give me a name.

I have spent days trawling the internet trying to find a Paediatric Consultant who understands EDS enough to actually consider the whole family history and get ds properly checked out and hopefully correctly dxd. We are Midlands based, but willing to travel.

In anyone has a child with EDS who is seeing a decent Paed/Rheum/whatever consultant that we might be able to book to see privately, please can they let me know.

Poor ds is in a right state physically and his mood is rapidly declining the longer this goes on.

To cap it all, dd (7) has recently started going over on her ankles and falling over for no apparent reason. She is super fit and hasn't had any problems until now, but I had to see her teacher at the end of school today because she twisted her ankle badly at lunch - so she's been iced and anti-inflammatoried this afternoon as well.

We have managed to secure temporary LA transport so he can return to school next week, in the meantime he is in pain, bored and missing his friends and my usually cheerful, happy lad is really not himself at all. sad

I am happy for you to pm me if you'd rather not suggest a dr on here, but I really am desperate to get ds some help asap.

AndNowItsSeven Tue 01-Nov-16 22:41:28

Dr Pain - yes that's her real name at Alder Hey hospital is excellent. I have no idea if she sees private patients though.
My dd has hypermobilty syndrome not eds.

confuugled1 Tue 01-Nov-16 22:52:05

No idea if they do private consultations but ds1 has friends that have EDS and they seem to go to Gt Ormond Street for their main EDS treatment and appointments, so might be worth looking to see who there sees EDS patients - guessing they will all be paediatric focused. Their mum (who also has EDS quite badly and so is very clued up on it) seems to think that they are getting good treatment there. We live on the southern fringes of East Midlands so are not obviously in London hospital catchment area (I think we tend to get pushed to Oxford, NOrthampton, Stoke Mandeville or Bedford for 'normal' stuff if our local hospital can't deal with it).

Sorry if this is asking the obvious but have you also asked on the EDS charity boards? I think there are a couple of UK based ones, but again, my friend seems to think they are quite useful.

Sorry to hear that you are having such a hard time getting your ds some decent help - a decent attitude from the surgeon would go a long way as a starting point, it sounds like he has treated your ds appallingly. Is it worth making a complaint to PALS?

Hope you get the treatment your ds needs very soon...

moosemama Tue 01-Nov-16 23:06:30

AndNow Thank you. I will add her to my list to check out for possible private appointments.

confuugled1 I will look up Gt Ormond Street drs tomorrow and see if I can find anyone that also does private practice from there. It seems nowhere near as many paeds drs also do private work as adult drs.

I have signed up to the boards, but not had verification yet, so I can't post. One of the helpline people has offered to ask for me, but I'm trying to cover as many bases as possible, so thought I'd ask here as well. I'm told a lot of info seems to get passed on on FB too, but I don't have a FB account and dh has managed to get locked out of his. hmm

We considered complaining to PALS, but with all the time and effort we're expending trying to organise school stuff, transport and get him some help we just don't have the time or energy for another thing on top. I am literally spending all day every day making phone calls, sending emails and researching potential doctors.

Mum was referred to an adult Rheumatologist in our healthcare trust who told her that her Cardiologist was better placed to diagnose EDS than he was. confused I think he probably didn't know very much about EDS himself and was looking to pass the buck.

It's bad timing as it's the worst time of year for dh's job, the time of year I always end up having a relapse and we are just starting the process of transferring ds1's Statement of SEN to EHCP. (Things are more than a little bit stressful in our house at the moment.) Things would also be a bit easier if I hadn't failed my driving test a couple of months ago. I am due to retake it, but not until January.

Ds has been referred to Birmingham Children's and I do know someone whose grand-daughter is under their care for JHS, plus ds2's old OT said their pain clinic is very good for JHS patients, so I am hopeful they will be the right people to take over his care when we eventually get an appointment. OT tried to refer him to their pain clinic a while back, but they refused because he'd come through the wrong diagnostic pathway due to being sent via general paeds in a different trust. confused

moosemama Tue 01-Nov-16 23:07:30

I really need to go to bed now, but will check back in the morning.

Thank you so much for the quick replies, I will follow up your suggestions first thing tomorrow.

cestlavielife Tue 01-Nov-16 23:11:21

Just register for facebook yourself so you can get on relevant groups.
Gosh has a good hypermobility clinic.

mynamesnotsam Tue 01-Nov-16 23:20:07

Sheffield children's hospital has a good EDS clinic.

moosemama Wed 02-Nov-16 09:20:38

I think I will have to set up a FB account just for that. I've never wanted to be on it before.

Unfortunately the Sheffield clinic is for complex cases only and only via second level referral.

Thank you for the suggestions. Off to start checking them out now.

duckfcuk Wed 08-Feb-17 07:48:21

Moosemama - did you get anywhere?

How is your DS - is he feeling better?

I've been waiting for a referral for my own DS for a while (we're in Herts).

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