Worried about toddler DD (photos attached)

[DreamALittleDreamofMe]

Good evening all.
Just at the point of trying to get to the bottom of what could be wrong with my little girl.

At the end of October she became increasingly unwell with lethargy, staring into space, not really doing anything apart from laying on the sofa, being sick and very pale with bags under her eyes.

We went into hospital on the 25th of November where they took bloods, did an MRI head, ultrasound abdo, chest x-ray and referred us to neurology due to the staring into space.

However, 16 weeks on and she is still very much the same - she just doesn’t have much ‘go’ in her, I worry so much that something has been missed as I feel she looks horrific most days.

AIBU to take her back to hospital and ask for more tests?

Nephrotic syndrome.

She is swelling with fluid . ease insist on blood pressure and urine tests. Ask if it is kidney related. May be Nephritis if she is not Nephrotic. Please don't leave it.

She may continue to swell up.

Has she had urine tests to see if she has protein in her urine?
My daughter was 2 years old when she presented with symptoms like your daughter.
She continued to swell and it put her Internal organs under huge strain.

I don't want to arm you, but you must push to say that this might be NEPHROTIC SYNDROME.

Alarm you

Bless her. What a little sweetheart. I suffer with allergies and my eyes are like thay and I'm constantly tired. Please get her seen by another GP x

Could it be vitamin b12 deficiency? If her levels are less than optimum it can cause symptoms. (The nhs threshold is low)

OP, I agree with other posters and your own gut instinct that something isn't right. However, I wouldn't go down a google wormhole or put too much stock in mumsnet diagnosis as that way lies madness.

The best thing to do, as you are doing, is to insist on more urgent appointments and don't take no for an answer until you have a diagnosis and treatment plan.

You know your own daughter and what is normal so don't put up with these delays!

Wishing you and your DD lots of love

I don't think the forehead is bad. My daughter also had this mixed with lethargy and eye bags. Everyone commented on how tired she looked. Never got any results on tests but a year later she was bad to normal. Just a bad virus had knocked her for a while. Fingers crossed x

Me again!
If you gentle press on the fluid filled eyes and forehead does it move?

Does she have his on her ankles and stomach? it may not be apparent to the eye?
My daughter slowly filled up with fluid because her kidneys had small holes in them leaking fluid/ protein into her body.

We were sent on a wild goose chase of allergies, upto Moorfields hospital a the time she was getting sicker and sicker.

Please insist on urine testing and ask if it is NEPHROTIC SYNDROME OR NEPHRITIS.

@lexiepuppy she's had blood and urine tests

She’s also had an MRI which would show fluid around the brain and ultrasounds that old pick up kidney problems.

lexiepuppy NS would show in a blood test. I know many people get fobbed off with allergies at the start but once a blood and urine test has been done it gets picked and the OPs DD has had those.

Trust your instincts. Mum's (and dads) often pick things up before professionals. Dont be fobbed off. Be brave and courageous and determined.

I think people are thinking of this from their experience of the NHS where it is very difficult to get to see a specialist, you get fobbed off by the Gp for ages and you have to fight your corner. The OP’s DD has had a battery of diagnostic tests that have not shown anything - this is either nothing serious that will pass by itself, or something rare that needs an experienced diagnostician.

I would ask doctor about kidneys specifically.

Has epilepsy been ruled out? I do agree with a PP though a MN diagnosis won't help, we'll all immediately jump to the nearest illness we happened to have heard of. Best to keep pushing for more tests if you're not satisfied. It may just be an awful virus though.

I can’t see the photos but trust your instinct and push. If you can and have to them go private for a second opinion

Is there a children's hospital you could take her to? This si clearly a bit outo fthe ordinalry and I would want her to be seen by specialist paediatricians now, not just general paeds or doctors who deal mostlywith adults.

How is she today OP? I hope you've had some luck in getting hold of someone so she can be seen x

No advice I’m afraid (and can’t see the photos) but I just wanted to say you’re going the right thing by not accepting the current situation, your daughter needs you to advocate for her and get all the answers. Best of luck

I can’t see the photos, but do you know if the chest X-ray showed any enlarging of her heart? Has she any other swelling eg ankles? How’s her breathing, any grunting or rapid breathing? Vomiting?

You are clearly getting lots of peoples’ own experiences of unusual conditions and illnesses and probably now worried sick about a number of potentials, so I am sorry to add another, however my son at 18mo became lethargic, lost his appetite, was pale, had swollen eyelids and ankles and started to grunt intermittently when breathing, slept a lot, often had a sweaty head. We saw countless doctors who ask diagnosed RSV, chest infections, bacterial pneumonia. Finally someone noticed on a chest X-ray that his heart was enlarged (and this was not the first chest X-ray he’d had!) and did an echo on his heart which revealed myocarditis with possible secondary dilated cardiomyopathy, essentially he was in heart failure. It was caused by an episode of slapped cheek.

He was very ill but a few years later is now absolutely fine, to reassure you.

I don’t know what the hospital set up is in the Channel Islands but if there is an A&E option go there (now) and insist on an echo and another ECG, plus bloods to check her BNP level and for troponin.

Good luck and I hope she recovers soon.

Just wondering why some of us can see the photos and some can't.
Anyway, good luck op. As hard as it sounds worry but try not too, as in any parent will worry and its our job to worry but I'm sure she'll be fine, when she gets a proper diagnosis of whatever it is.

No I can't see the , even went to web site but nothing there.

Hoping you've got somewhere op

I can't see the photos?

I hope your daughter has got in ok today OP.

Those asking about the photos, I could see them this morning but they seem to have disappeared now. Maybe a glitch I guess.

The OP must have got them taken off.

www.undiagnosed.org.uk

Excellent info on rare diseases esp genetic