DD (5) and EDS. I think she has it but I'm scared of the brush off from GP again.

[AgadorSpartacus]

She was diagnosed with hypermobility at 1 yr old. She has never dislocated anything but suffers pain if she does anything high impact or prolonged standing or walking. Real crying her eyes out pain. We give painkillers but nothing really helps until it goes on its own.
If you look at her she has translucent skin and can see dark blue veins on her jaw, arms and torso. She bruises so easily and mysteriously it astounds us (and worries us). Since this morning she has developed half a dozen brand new bruises on her legs. Some large dark green/grey some tiny (like finger marks which as you can imagine worries me for other reasons.

She has a grey tinge to the whites of her eyes. When she gets cold it happens really quickly and her lips go blue. It's hard to warm her up.

She has been complaining of her heart racing. Randomly. It rarely follows excercise. It just happens. Sitting colouring, watching tv, walking
up stairs.

I've had the brush off from the gp (more than one in the practice) and feel like a neurotic mother.
I don't want something to be wrong with my child but I have this niggle and the heart racing is now my biggest concern. Nobody will join the dots. I just want her checked over properly. By someone who knows.
Does anybody have any advice please as to anything I could do or say to make them take it
seriously?

Bump?

I'm about to ask about hypermobility in my toddler (I have it and so does my 8yo dd and has symptoms exactly as you describe)
But when dd1 was diagnosed earlier this year I was offered a referral to rheumatology for her which I declined as we are coping quite well at the moment and as I have eds myself I've had 30 years of managing it so I'm pretty ok with dealing with the pain and stuff.
I would def be pushing for a referral, have they checked for a heart murmur etc?
Also, re the pain, sounds daft, but I find a hot water bottle very helpful, and also merino wool long johns and vest in the winter helps enormously with the thin skinned chills

Thankyou so much for answering.

She hasn't been checked for a murmur. When the thing with her heart first started she described it as her heart hurting usually after running or excercise. The gp checked her with the stethoscope and said she was fine maybe it was a lung thing she might need an inhaler. Since then she has started with the heart racing and she gets frightened when it occurs.
She also has recurrent bacterial infections which apparently can be part of this.
I mentioned my concerns about 18 months ago and said that EDS had crossed my mind. The gp said"whats that?"

I have eds and so does everyone in my family (classic eds, type 2). She definitely needs referring to a paediatric rheumatologist. I think it sounds like classic eds which is much rarer than hyper mobile type eds. This means she needs a heart scan. Not to be alarmist, but my granddad died from a mitral valve prolapse, which is fairly common in people with classic eds. This condition can be picked up and monitored and so doesn't have to be dangerous. Even if she doesn't have any issues with her heart, it sounds like she could really benefit from a physio who specialised in hyper mobility (i have one and see them regularly) and a decent painkiller regime. Poor love, i remember what it was like to be in so much pain-and i sometimes still am. Is she at school yet?

have a look at POTS re the heart racing - POTSruns alongside EDS and although it's pretty rare (even for a rare condition) in a 5 year old, it is possible (I met a 7 year old last year old with POTS). You can do a simple test at home to see if this might explain it - take a pulse rate lying down, then one standing up, then another one after standing for 5-10 minutes. If the rate rises by more than 40 bpm (for DC, it's 30 for adults) then it might be POTS.

You might have better luck calling the hypermobility Joint Hypermobility Syndrome when you speak to the GP as IME they get a bit scared of the term EDS as they jump to the more serious variants. You need a referral to a paediatric rheumatologist (possibly via a general paed at your local hospital). The website I linked to above has a factsheet for GPs, www.hypermobilty.org or Ehlers-Danlos Suppport UK should have something similar.

Good luck - you need to be really pushy to get anywhere IME. In some ways we were lucky as DD2 faints (with her POTS) so it was obvious there was something properly wrong, and once we were in the system with doctors who knew what they were doing I was able to get the EDS diagnosis as well.

Yes she is August born so she's two thirds of the way through year one. She falls a ridiculous amount at school. Her ankles collapse inwards in such a pronounced way when she walks. the thing is she says she has never had the heart racing thing at school only at home. I don't know what to make of that.

I have read about classic eds unweaved. Ive probably read more tgan is healthy but I just need enough to back me up at the doctors. It scares me I'll be honest.

Ah yes I've read about Pots too leaping. Thankyou for the link, it all helps.

I was thinking that if they don't take me on (again) I shall ask them to provide me names for a private consultation. I can't afford private but all I need is that one consultation to get things moving. I do know that as we don't have private healthcare we will be referred back to Nhs.

I've been off work all week with sciatica. It gives you time to think (too much).

unmumsnetty hugs it is scary, if that's what it is, but it can be managed. I have fairly serious classic eds. I use a stick at 24, take lots of tablets and am on disability benefits. However, I'm doing a degree and am on track for a first. I hope to do a masters and work for the UN :). I'm also married to my wonderful DH. My sister has very mild classic EDS and it barely affects her at all. She has almost no medical issues and jets all over the world. It doesn't have to be the end of world, even at the more serious end. What I have found is that it is best to get specialists involved fairly quickly. That way she can be supported as she gets older. Even if she only has joint hypermobility syndrome there is plenty of support avallable. Does she get any help at school? Does she find writing hard? If her wrists are hypermobile it might be painful. Do get in touch with HMSA and Ehlers Danlos support. I think they are brilliant.

If you're in the SE, then THE consultant to see privately is Rodney Grahame at St Johns and St Elizabeth's hospital in St Johns Wood.

unweavedrainbow it is extremely reassuring to know that life doesn't stand still with a diagnosis. You are achieving and living your life. Mind you when it comes to dealing with conditions that turn your life upside down we have that one nailed as DH has Narcolepsy and Cataplexy.

she doesn't get help at school and she hasn't

complained of her hands hurting. The majority of
the

problem appears to be her legs and feet and
occasionally her neck.

We are in the North West. Not sure where the closest would be. Maybe the Royal Manchester.

Haven't really got much to add just wanted to wish you luck. It really makes a difference when you have a good doctor, my DD has just been diagnosed with classical EDS at 18 months thanks to a great paed doc who referred us to genetics. She has extremely hypermobile joints, particularly her ankles so she isn't weight bearing very well yet but we hope to start physio soon. She also has very stretchy skin, blue tinged eyes and she bruises easily. Reassuringly the geneticist we saw also diagnosed me at the same time and although it explains a lot of stuff I have managed to get to the grand old age of 43 without it affecting me in any major way, I never would have known if DD hadn't been referred by the health visitor

Thankyou madamejosephine

I'm going to get her in at the doctor next week and pour my heart out And hope for the best.Dh said to write it all down Which I will.

There are some clinics in Yorkshire, Sheffield I think for genetics and dysautonomia. I would if you can get to St John and St Elizabeth for the diagnosis with Professor Grahame and before he retires if you can.

It is awful that so few HCP's know about this condition.

Ds has hyper mobile joints and flat feet. I'd never heard of EDS until recently, don't know if I want to look it up as I'm a worrier!

This may be totally wrong but your dd's heart racing sounds very like when I've had panic attacks in the past - is that a possibility do you think?

306 it's crossed my mind you know and it could be. It's just combined with everything else it made me wonder is it part of it.

It would be odd I think to be lay on the floor colouring and suddenly have a panic attack but who knows?

People who have hypermobity are more likely to have anxiety attacks I understand. I still think it warrants checking out though

Anxiety is also a part of EDS. It sounds like EDS to me. Join some EDS facebook groups, there should be members who can recommend doctors in your area who will give your dd proper care. You or her father probably have it too. Here is a UK facebook group.
www.facebook.com/EhlersDanlosUK

Here are the UK EDS clinics.
www.ehlers-danlos.org/what-is-eds/eds-clinics

I agree with everyone else that you need to see your gp about the heart racing (but do go with an open mind that this may to be anything to do with hypermobility or eds, although it may be, and is definitely something that needs checking out properly, there could be many causes for it)

As far as the falling over and general aches and pains is concerned, much as it feels counter-intuitive when your child is in pain, it is important that she keeps as active as she is able, for two reasons, firstly to help build muscle strength and tone but also to avoid weight gain, is so easy for this to happen in a child who is reluctant to do anything physical cause it hurts, and the more weight you carry the more painful it is to do anything when you have bendy joints anyway!

It may well be worth getting a podiatrist referral too, they may be able to make her some customer made insoles with good arch support which will help encourage her ankles not to go in on themselves, they can also advise you on the types of shoe that will help support her ankles a bit, these things together will help with the falling over

Just wanted to say that I have a referral to a paediatrician for ecg, 24 hr trace and some blood tests. So it's a start.

Thanks so much for your advice.