7 yo with hypermobility and exhaustion episodes please help

[UnbalancedMum]

My daughter is 7, she was diagnosed with hyper-mobility when she was 3, after a physio referral because her feet were completely flat causing her to trip over. It’s obvious now that all of her joints are extremely hyper-mobile. We also have EDS in the family (her aunty on her dads side) quite severe along with other issues. I’m also hyper-mobile.

Up until she was about 6, it was only ever bendy/clicky joints. A couple of dislocations.

Now for the past 18 months, she’s been suffering with episodes of exhaustion. Especially after physical activity or when she is ill. For example we could go to the park for an hour and a few hours after for at least 3-4 days she will be utterly exhausted, very withdrawn and want to do nothing but sleep or lay on the sofa. She complains of left sided upper abdo pain too. The worst episode was nearly 2 weeks. I’m aware the symptoms JHS and EDS can cause in regards to pain/tiredness and digestive issues.

We were eventually referred to a paediatric unit at a hospital. After several doctors saying it’s viral, or hypermobility doesn’t cause any issues like this or it’s a stomach migraine. The paed gave us Movicol and omeprazole and again said her hypermobility is nothing to do with it.

It’s always after she does anything physical or taxing. By the end of the school week she struggles to move/stay awake. It’s heartbreaking to see and her episodes are becoming more and more regular. I’ve spoke to the school who said a care plan will be put in place so she can do something else instead of PE if she’s struggling etc and so staff are aware of her being more prone to sprains/dislocations etc. Her attendance is now below 94% she’s had three days off since September I try and get her in everyday but she genuinely struggles so much when she’s having an episode. She had an afternoon off for her hospital appointment and now any absence will be put as unauthorised because her attendance is under 94% I can’t take her to the doctors to get a note everytime she’s having an episode that wipes her out.

I’m currently on the phone to the GP to try and get another appointment to do something else. I’ve no idea what. I just want to help her and I seem to banging my head against brick walls.

We had blood tests done two weeks ago for full blood count, liver function, creatine and coeliac (MIL is coeliac) and DD has been tested before and came back negative.

Her exhaustion isn’t food related I don’t think as it’s always after exerting herself. I try and get her to rest and she has a balanced diet and a multi-vitamin. I’m at a loss as what to do next any advice welcome

Thankyou
An exasperated mum 😭

I’m wondering if she could have chronic fatigue syndrome as the post external malaise I’ve just been reading about sums up exactly what happens to her with these “episodes” 😩

Has she been tested for glandular fever?

Sorry posted too soon. Is her tummy pain up under ribs as that is a symptom of glandular fever. The blood test they do only shows that the child has the antibodies, so only shows that they have had it.

Thank-you for replying. No she hasn’t been tested. She only has the pain when she’s having an “episode” (I don’t know what else to call it!) when it’s over and she’s feeling herself again, she’s not in pain. The pain and the exhaustion seem to be linked. I’ve made a doctors appointment on Monday is it worth asking about glandular fever? She only had bloods done two weeks ago but they didn’t test for it then.

Has she ever had any checks on her heart? I knew a family where Mum and three boys all had a form of EDS with heart complications. They all had bouts of fatigue and the boys were home schooled as school wiped them out.
You are doing a great job fighting your DDs corner. Keep pushing for investigations.

Hi. My son has EDS (& other stuff), but he would get this (tho I can't remember the stomach pain). He was exhausted after playing football once with a friend, when he got home he was so sore he couldn't walk down the stairs. He would often ask me to carry him home from school. He was at Gt Ormond St & the rheumatologist & physio said that is linked. The muscles are having to work so much harder to stabilise joints that is is exhausting. Good luck with GP.

Is she under a rheumatologist who specialises in EDS? Does she have a physio programme? I'd try to get that in place then you gave their support too.

Thanks everyone for your replies. I’m very grateful of the support and advice.

@Vintagegoth no she hasn’t ever had any heart checks. We’ve been to the doctors several times about this and they always focus on the “stomach pain” and not her energy levels or fatigue and never associate hyper-mobility as soon as I say she has that and that we have family history of it and EDS, I’m told it’s nothing to do with it and it’s probably viral and/or a stomach migraine.

She’s never had any scans or anything only ever blood tests for various things.

@QueenOfOversharing no she was put under a paed at a local hospital unit who gave us the omeprazole, ignored me saying she has hyper-mobility and episodes of extreme fatigue and said he will see us in 4-6 months.

Is it worth asking the GP on Monday for a rheumatology referral? I know chronic fatigue and EDS can be linked as EDS can cause fatigue. She never complains of joint pain sometimes says her legs ache a bit the pain is always on the left side under her ribs down to her hip bone and it’s always when she has her “episodes” and/or is tired. When she’s feeling okay she doesn’t complain of any pain but it’s always short lived.

It’s hard seeing her so poorly and exhausted all the time and I’ve now got the school complaining of her having time off, even though they’re supposed to be putting a care plan in place for her. I have three other children and I see them running around playing and her laying on the sofa exhausted and we have no answers as to why it’s heartbreaking 😔

@UnbalancedMum definitely ask for a rheumatology referral. Once you see them, they can assess whether EDS is the correct diagnosis & if they're not specialised enough in it, you could perhaps get a tertiary referral. The reason a specialist EDS dept is important - they will have integrated support like physio, orthotics, and sometimes psychologists. With GP I'd mention family history.

Have you looked at the periodic fever syndromes? My daughter has one then and also has hyper mobility (the two often go together). She is under rheumatology and immunology, a referral to rheumatology would be worth pushing for.

@QueenOfOversharing thank-you I will ask on Monday and refuse to leave without one 😅

@Runwayqueen no I haven’t heard of that, I will do some research! Thank-you

No worries. Sadly you won't find much on it from the NHS, have a look at said support or nomad alliance. Periodic fever is also known as Autoinflammatory disease.

@Runwayqueen I will check all of that out, thank-you! X

Is she quite tall? I wonder if she should be tested for Marfans if so. The upper side abdomen could be a low bleb / pneumothorax which can be an indicator.

@VitreousHumour I wouldn’t say she’s tall, no. I’m not sure on her actually height but she’s definitely got children in her class taller than her. She’s very slim, got little chicken arms and legs but I’d say probably average height.

Can she join her thumb up to her little finger around her wrist/are her outstretched arms wider than her height? These, along with stretchmarks/loose skin, hypermobility, flat feet and spontaneous pneumothoraxes (collapsed lung) can be indicators. Also the roof of the mouth can be narrower so teeth look crowded (suspect this is only noticeable with adult teeth though). I think there's also a projecting sternum indicator - a projecting bump at the bottom of the ribcage.

I know all this because DS (17, tall, thin) was recently tested because of several spontaneous pneumothoraxes. He was cleared for Marfans eventually and had an op to fix the pneumothoraxes, which were actually just happening because he's so tall and thin. But while he was having them and before we realised what they were, he would have to go to bed with exhaustion and pain in his side for a couple of days regularly.

We thought it was a pulled muscle at first - it was only when they got really bad and we went to A&E that we realised he'd been having collapsed lungs which were then re-inflating. They're not as scary as they sound but might be well worth taking her to A&E while she's experiencing it - needs a chest x-ray to diagnose, can't necessarily do it via stethoscope.

My little boy connor is have problems with bring wind up can anyone help

@VitreousHumour I’m so sorry your boy had to deal with that.
Thank-you I may take her next time the pain happens. Thank-you for your advice xx

She complains of left sided upper abdo pain too

Is it definitely her abdomen and not bottom of ribcage? I'm just wondering if it could be costochondritis which is common in people with EDS/ Hypermobility Disorders (which it definitely seems like your dd has)

It could definitely be at the bottom of her ribs. She points to where her ribs end and takes her hand all the way down to her hip bone. What is costochondritis? X

It's inflammation of cartilage in the rib cage but I think the pain is localised, I don't think she would be feeling it down to her hip bone if it was that

@UpTheLaganInABubble I’ll have a look into that. Thank-you x

Does anyone think it would be helpful to try a gluten free diet? Her celiac test came back negative we do have celiac disease in the family.

DD has been referred to the Evelina in London. Thankyou for all your advice everyone xx

Good luck UnbalancedMum

My daughter has eds and exhaustion comes with the territory I'm afraid. Its vital she gets enough rest to help keep the dislocations at bay. As her body is full of extra stretchy collagen pain can occur in her internal organs as they are jiggling around more than in a "normal" body. Don't stop gluten if the diagnosis for celiac came back negative, there's really no point. I'm sorry to say it took years to get DD a diagnosis (she has vascular eds) until eventually she was seen by a specialist at University College hospital. EDS is a condition that many gps don't understand or have experience of and your daughter will need you to keep pushing the medical professionals for help.