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.

I'm sorry to hear of your daughters health problems

My first thought was metabolic disorder... there are various types and my daughter was investigated for various things at age 6 - hers was childhood epilepsy which thankfully she's grown out of now.

A google search found this and a lot of symptoms fit what you've described:

https://www.rch.org.au/clinicalguide/guidelineindex/metabolicc_disorders/

I really hope you get to the bottom of what's going on! There's really nothing worse than the terror of not knowing

Anyidea - no she's never had that ultrasound, only ECG.

Nomore - that's really interesting, Thanks. Lots of symptoms fit.

And glad you're dd has grown out of her epilepsy

Oh goodness i would definitely ask for an echocardiogram of her heart ... it's an image of the heart and can show up things an ECG might not. My son had repeat chest infections, pale, dark circles, not very interested in food, very skinny. He never fainted but he would get very floppy and I think we caught it soon enough (age 6) to avoid symptoms getting worse as he got older. He had so look many gp visits and hospital admissions but it was never picked up until the Echo. Also always seeing a different HCP and felt like no one ever took in the whole picture. In hindsight I wish I'd gone private and just asked for all the tests.....

Forgot to say.... it was revealed he had a 8mm hole in heart but it was easily fixed and the improvement in him was immediate and incredible to see. So I don't want to scare you.... it sounds scary but can be a very positive diagnosis.

Hello all. Just updating..

The coeliac test came back negative, as expected. We've seen the dietitian who has now referred her to a consultant for her poor weight gain. She's been on paediasure shakes for 8 weeks with no weight gain as she is restricting her food even more at the minute. Consultant wants to discuss tube feeding. Feeling deflated but also resigned to it tbh,it's been a long time coming. Just seen another thread with a 10 year old who weighs 30kg more than dd!! Which was a shock but puts dd's weight into perspective (currently wavering between 21.8 - 22kg).

OP, only just read this thread. Poor you and your poor daughter.

I agree with a PP that a referral to GOSH might be a good idea. And I also think another consult with a SALT specialised in swallowing (dysphagia) would be a very good idea. And maybe a CAHMS referral as well, but I realise they can take forever to see you.

I'm so sorry you're going through this and your daughter is having such a tough time. Metabolic disorders were what came to my mind too when reading through this thread, although height is more often restricted than not with those. They are hard to diagnose and overlooked by non-specialists as there are so many more common differential diagnoses.

I hope you get to the bottom of this, and that tube feeding, if it happens, makes a difference. We found a PEG feed made an enormous difference to our daughter (metabolic disease). The weight piled on.

They are small portions - my 8 Yr old (active boy but short for age) would eat 1 weetabix plus a large bowl of porridge. Three sausages + mash. 4-6 nuggets, two waffles and ask for pudding.

My kids would not have eaten anywhere near that (ever) and still don’t as teenagers/young adults. I’m always amazed with school lunch box discussions on here, always as much food as mine would have eaten in a whole day yet people pile on and say it’s not enough.

Mine would have been that weight or under at the same age as OP’s child but I can’t remember heights, they were not short kids though. One was definitely skeletal with confirmed nil body fat but very healthy (saw paed gastro to rule out any underlying issues, had the works including endoscopy etc). No macro/micro nutrient deficiencies, LOTS of energy, very sporty, healthy in all other respects, very rarely ill. The only issue when younger was if they had a bad virus/gastro etc (very rare) it took them longer to bounce back as they had no reserves. That’s just how some kids are built! Even now as a young adult over 6’ they wouldn’t eat as much as described above - still never ill, energy plus, forever playing sport for hours (literally) without flagging.

To give an idea of my current teenagers intake - 1 weetbix for breakfast (mushed in hot water with a tablespoon of milk- shudder), 1 piece of fruit for recess, half a vegemite sandwich for lunch (they take a whole sandwich but have never eaten over half), a yoghurt when they come home. Dinner size portion would be 1 sausage, 2 spoons mash, 2 spoons mixed veg. Desert would be a piece of fruit. No snacks but they won’t say no to a piece of chocolate and if there is ever a party/special occasion they will happily eat stuff there but only a handful of chips and a few lollies or maybe a couple cubes of cheese and 2 crackers with dip etc if it’s a bbq, they don’t tuck in like you see others doing. They are average height, very slim, do have complex health conditions but nothing related to food and in all of this time no paed or specialist has ever been concerned regarding their weight or food intake. Should add they were tube fed for first 12mths of life but luckily it hasn’t seemed to have affected them.

Having said this, I think there is something amiss with OP’s daughter but unfortunately not sure everything will tie neatly into a bundle for diagnosis. Has there been any genetic testing?

Thanks all . I will find out exactly who this new consultant is in March, then I can discuss some of the possibilities people have mentioned here.

Not everyone who is coeliac has a positive ttg test, some coeliacs don't produce the antibody and need a different type of test. You can read more on the coeliac UK website. Hope you get some answers soon, must be very stressful for you.