There is SOMETHING wrong with my daughter!!

[30daysonly]

And I'm at my wits end, can anyone please offer any advice on this? I'm going to start from day one. I'll list the things she's had and the things she's been suspected of having but tests proved negative (suspected by doctors not me)

So, birth:
12 weeks premature
Suspected hydrocephalus
Suspected necrotising enterocolitis
NG fed for first 10 weeks.
Otherwise a 'healthy' prem, in hospital for 3 months so fairly standard.

6-18 months:
Dd has always slept well, at least 12 - 13 hours per night from being 6 months old.
Little to no interest in food. Still reliant on bottles of nutriprem (prem milk) for calories.
Frequent chest infections.

2 - 4 years old:
One chest infection turns into pneumonia.
Admitted to hospital for 4 weeks.
Stops eating completely, NG tube back in.
After discharge, dd is on constant antibiotics for over 18 months for persistant chest infections.
NG fed for 12 months. Seen by dietitian and SALT but discharged.
Endoscopy result was normal.
Referred to CAHMS re. food refusal but never reached the top of the waiting list.
Suspected cystic fibrosis.
Eventually began eating small amounts but relied mostly on calorie shakes either drunk or by NG during this time.

5-6 years - fairly normal, started school fine, started to eat slightly more, gradually weaned off the calorie drinks.

7 - now:
Dd began fainting infrequently, then began fainting with seizures, then began suffering severe headaches.
Suspected epilepsy, seizures witnessed in A&E.
EEG, sleep EEG, MRI, ECG, 24 hr ECG all normal.
Waiting to see another consultant but no answers so far.

Dds eating has deteriorated over this time. She is now 20.5kg (was 22kg in summer)
Dd is now hiding/binning food to avoid eating.
Spoke to dietitian today and have an app booked.

Overall dd is extremely thin (skeletal), tired, still sleeps 12+ hours at night,
is pale, has dark circles. But also bright, happy, has friends etc.

I feel like I'm slowly going insane. I just want somebody to tell me she's going to be ok. Or tell me she has SOMETHING. I have a constant low level feeling of dread at what the hell is coming next, and my stress levels are through the roof, I'm so worried about her.

Thank you so much if you've read all this. If anyone has any thoughts I would be grateful. I feel like each consultant focuses on one symptom at a time, and nobody is looking at her as a whole and connecting any dots.

Have you looked into PoTS as a cause for the seizures? They might not be seizures but syncope (fainting but a bit diffrent) have a look at stars (website)

I am not a doctor but have you ruled out PKU? Symptoms include seizures and pale skin...

What’s her digestion like? Constipation?

Have they checked her B12 levels?

So there are specialisms for everything. I'm presuming her bloods are all showing up normal, or she would have been referred to a specialism.
If there appears to be nothing being indicated, then the lack of food may account for the fainting.
She's being referred for the seizures. From what I read, NHS tends to do nothing about them once they're controlled. Hopefully the consultant gives you some answers.
I'm presuming her bloods for the basic things like iron etc. are all coming up as normal.

As a mother, I'd want a name and a list of solutions too.

I suspect that you might not get that. I might try to keep up her nutrition with the nutrition drinks as a supplement in the absence of proper nutrition.

I'm sorry for your little one.

There may be something rare/genetic/congenital - someone mentioned pku, fabry’s.

Sounds like getting a referral to the super specialists in London great ormond st would be the step after consulting local specialists.

The 100000 genomes project has yielded some results (don’t get hopes up as don’t think it will find majority of conditions but perhaps avenue worth pursuing at a later point).

www.genomicsengland.co.uk/understanding-genomics/jessicas-story/

Thank you everyone. I have looked up PoTS before, MNers mentioned it on another thread about dd's seizures, and I will be asking the new consultant about it, thanks.

I will look into the other things mentioned like PKU.

She doesn't seem to have digestion issues, slight constipation sometimes, where she doesn't go for a day or so then has to go immediately. But that isn't often.

Her bloods are usually fine, except urea levels. They are being checked on 2nd Jan as well as coeliac and vitamin D. I'll ask when her B12 was last checked.

It wouldn't surprise me if it was something obscure or genetic, she seems to tick a couple of boxes for a lot of things, e.g cystic fibrosis, epilepsy, coeliac, but doesn't have the most common/usual symptom of it.

Judas, I agree with you that nutrition could be a big factor in this. If she was getting enough nutrients, it could remove several of her other symptoms, the tiredness, fainting, lack of energy, paleness. She'd be a different child. I'm hoping they will prescribe the frebrini shakes she's had in the past.

eds is systemic, so effects everything in one way or another.

7 fold increase in autism,
increase prevalence of asthma,
dysautonomia... (something to do with regulation of autonomic nervous system, includes things like pots, temperature regulation)

not yet tracked down a link to sdyspraxia, at least not in peer reviewed papers.

low vitamin d often associated with it as well.

You need to get as many calories in her as possible with such a small diet. She isn't eating enough! For mash, add full fat milk and lots of butter. Extra cheese in pizza, extra olive oil in bolognese sauce plus cheese in top etc etc.
Full fat milk, yoghurts, cheese.

Definitely retest for coeliac - it's a diagnosis that changed our lives. I honestly believe it's under researched.

And please as someone else said make sure she eats lots of bread from now until test.

Can coeliac testing be sketchy though. I was diagnosed at 17, was so poorly and remember bloody test came back negative. Went to see GP and was a locus, suggested biopsy had it and was diagnosed. My life changed completely around within 1 week

Hi all, thanks for the replies. I automatically add butter, extra cheese etc. to as much food as I can get away with, unfortunately she won't have it if she can see it is an 'extra' item e.g. on top of spag bol.

Yep she's having lots, she has weetabix every weekday for breakfast, I'll encourage more toast if I can (nutella will help!)

I am planning to try to go gluten free throughout January, after the test on the 2nd, just to see. Dd was weirdly enthusiastic when I explained what it involved, she wants to make her own gf pizza so we will see!

I've only just seen this thread but wish you luck in finding a diagnosis so that it can be supported.

Could it possibly be an eating disorder? I was thinking how your dd hides food etc to avoid eating, weight loss, fainting, dark circles. I know she’s young and her motivation may not be to lose weight. It’s just that all her life she’s had food difficulties, etc and maybe subconsciously she’s trying to take some control back.

I’m no expert at all, but it’s what sprang to mind. If your dd is deficient in some nutrients and high in others an imbalance could cause her some serious problems as youve described.
I really hope you find some help and can get to the bottom of this. It must be frightening.

A friend of mine’s child was diagnosed with PANDAS after a year or so of on/off seizures and strange behaviour. However, I don’t know how that would fit with the other symptoms your daughter has. The paediatric consultant was convinced they were mental health related so it wasn’t tested for ages.

My mum is severely underweight due to medical issues. The dietician has prescribed various drinks and powders. She is told to try and eat every 2 hours because she can only have small portions. Also drinks hot chocolate or ovaltine with full fat milk etc. She also is told not to eat at the table but to eat watching TV - you eat more if you don’t think about it. She has no interest in food so it is a battle trying to get her weight up - I do feel for you.
With regards the other symptoms, I also thought something like EDS.
But I know a lot of my mums problems are not helped by lack of food/nutrition.
Good luck

So sorry you’re going through this, my dd is 9, although nearer 10. She’s 38kg and although she is quite a bit taller than your dd that’s still a huge difference in weight. And she looks slim.

I love the NHS but this year has had me pulling my hair in frustration with it. Really hope you get some answers soon

I was going to advise to look into the possibility of having Ehlers Danlos (or even Marfans given her structure), POTS and Mast Cell Activation Disorder - they can all go together as a triad. You could try her on an antihistamine - if she has MAst Cell, this will help though it won't help POTS or the collagen disorder. Good luck!

lamirah

My daughter is 7 years old , 5 months ago she suffered from.eccessive blinks when she is watching tv then it's developed even when she is talking especially blink with one eye; my daughter wearing glasses since she was 3 ; I went to 20 opthomologist and all.said eyes are fine; some of them.told me dryness allergy . I saw then a neurologist who told me my daughter have tourette and I should Gove her medicine name frisium (anti anexiety)
But I don't want to give her..it's been 6 months and am.crying every day ..anyone experienced that???

Please note that coeliac may not show on blood test. The only way to confirm for certain is biopsy. My DC was similar and blood test was fine but they did biopsy to rule it out for certain. Fairly easy to go private if you are not getting anywhere. Initial appointment is about £250 and can be a very helpful thorough full hour and then usually easy to get referred straight back into the NHS for tests and to relevant consultant. Would definitely recommend.

Hi Op,
Sorry to jump on late but just wondering if your daughter has seen a psychologist? from reading through the thread it seems that one of the things you're most concerned about is the eating/ lack of weight gain and then hiding of food (more lately). Wondering if she is anxious and whether there are some behavioural aspects (as opposed to purely medical) that could be looked at. I do know of very anxious young people having an anxiety endured seizure. It also sounds like there are quite a few things going on and i would recommend trying to get a professional to pull everything together and to work in a multi- professional way as a way of unpicking what's going on.
Good luck!

Happy New Year everyone and thank you for the recent posts, all giving me things to mull over.

So, dd had the blood test yesterday, I'm fairly positive it will be negative but we are going GF for a month to see if there are any positive differences. So far so good, dd is actually engaging about different foods and what has gluten and what hasn't. I've sold it as a "fun experiment" for a month and it seems to be working, she allowed me to add cheese to her scrambled egg tonight and ate it!! With a slice of gf toast.

Negatives: 3x in the last week she's had sudden headaches and dizziness, usually followed by fainting but she lay down as soon as it occured and it passed. Twice before the diet changes, once after so not sure it's related. Could be anxiety re the food changes but she seems quite happy with it so I don't know??

Dietitian app is Monday so we'll see if they have anything to add, hopefully a prescription for high calorie powder/shakes.

Hope you get an answer OP and good luck. Have you had the echocardiogram (actual ultrasound of heart) as well as tracking heartbeats? Some symptoms sound like issues we had with hole in the heart...