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.

Redsky she's just turned 9, sorry should have put that in OP.

Is it a squint or an eyelid droop? Does she tire easily? Is it actually a seizure (Not nice but have a look at a few seizure videos online made me very sure what DS had wasn't epilepsy)? Has she had a referral to a neuromuscular doctor to get her checked? Have they done significant genetic testing? Not the basic stuff but the more broad spectrum stuff

It doesn't sound like the diabetes symptoms I had, but the one I most noticed in myself was smelly breath and really deteriorated eyesight.
Hope you figure it out soon.

Just to say that you can develop coeliac disease, you aren't necessarily born with it, so worth another check.

And no one has ever said her blood pressure wasn't normal when checked.

Forgot to say she had a vit D deficiency when she was very young and was prescribed vit D for around 12 months!

The last set of bloods I pushed for were vitamin D. When they tested we'd just been on holiday and the dr said if anything they were slightly high.. felt like a crazy person at this point!

Despite all this I don't pester my gp or consultants, they always listen and seem to agree with me that somethings not right, and they suggest and order the tests .. they are just always normal.

Can you go private? I understand why people don't and kind of feel the same but for on going unresolved issues, could be worth a try. She is very tall for a 7 year old- has she had a big spurt up and now needs to fill out?

Has she had a MRI to investigate the possibility of brain tumours?

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.

Good luck xx

That sounds like the amount of food my 2yo would eat, 7yo would eat a lot more. Must be exhausting never quite knowing what the problem is & always worrying. Hope you get some answers soon

I would also ask about another coeliac test. What was she eating when tested before? As you need to be eating a fair amount of gluten containing food every day for 6 weeks for the blood test to be accurate. (maybe the same for biopsy I never asked) - I think it was the equivalent of two slices of bread for at least two meals a day off the top of my head

Did the SALT look into her swallowing function with an MBSS/video fluoroscopy at all?
Tube feeding may have had an effect on that.
Does she cough while eating/drinking or develop a wet-sounding voice? Does she ever gag? Prolonged tube feeding may also decrease airway defences like coughing so if there is a swallowing problem she may not be effectively protecting her airways.

There is obviously other stuff happening too, but this may be a piece of the puzzle.

She sounds a bit like me as a child op. I was a skinny, sickly baby. My mother became absolutely obsessed with what I ate. Every meal was poked: eat this, try that, eat more.

Meals became a battle ground and I remember being absolutely starving and saying I wasn't hungry because it was all about control.

I was anorexic in my teens.

May I gently suggest you perhaps back off a bit over mealtimes and food. I understand why you are anxious though.

Hi, OP,

I don't have the same story, but lots rang true.
My dd was a 29 weeker. Refusal to eat. On high calorie shakes/milk. They told me to stop breastfeeding after awhile as she just wasn't gaining weight (dd1 was fine so I'm sure my milk was ok).
They suspected CF. She was tested repeatedly as she kept coming back inconclusive. Eventually ruled out.
She wasn't growing. She wasn't NG fed at all after a couple of weeks at home. I'm not sure why tbh. Looking back I think it was what was needed

She is still v v underweight. She is 13.5kg at 5.5 yrs old. But unlike your dd, mine is short for her age too. She still eats v little. Still has a high calorie smoothie at bedtime.

She's about to start growth hormone. I've been told it should improve her appetite too. No proper diagnosis. There was talk of Russel Silver Syndrome and I think officially that has been added to the paperwork to get funding. But I've been told it's unlikely.

. I've had a tough few years some connected to this . The first was awful. The reflux and milk refusing and constantly being told she needs to put on weight. She was weighed weekly for 18 MTHS. Sorry you've been through it too. I know it's not quite the same story

I was going to suggest genetic testing too.. there are lots of swans ( syndrome without a name ) who have some of your daughters issues . Sometimes there are no answers sadly ( I have a Swan )

Thank you everyone - I will reply individually in a sec and try to upload some pics of her squint for Greeneggs.

Ontheroses - I can't back off any further than I have re. her food. Everything she eats is from a narrow list of food she will eat, our meals revolve around her (she doesn't know this, she thinks I also love eating sausage and mash twice a week). I match her portions to what I know she can comfortably eat, I don't over face her. I don't use treats/food as a reward or as a punishment etc. It wouldn't work, she hasn't even opened her advent calendar since day 2 and I haven't mentioned it at all!! I do remind her to drink, if I don't she wouldn't drink at all.

I was going to mention arfid too. I have twins who are 5 1/2 and just going to be diagnosed with this. they are on specialist milk and eat very very little. have you had iron levels checked?

Just to clarify - DD has just turned 9 years old, my OP wasn't clear sorry.

Greeneggs - I've give up trying to upload pics, but it was definitely a squint, corrected partly with patching and partly just got better with age, almost un- noticeable now.

She does tire easily, she tries to keep up in the park but I can see her running out of steam way before her friends do.

eggofmantumbi - her eyesight is good, stronger in the eye without the squint but she can see fine. No smelly breath either but thank you.

SheepyFun and icclemunchy - I will definitely ask more about this. Is it safe to cut out gluten as a test to see if she improves generally? and for how long would we need to do it?

Cherries - her head MRI was clear last year, so that has been ruled out thankfully.

ConversationCoat - no history of choking, gagging or coughing whilst eating. Not sure exactly what those things are but she has had an endoscopy, nothing to report on that either. She was seen by the SALT and discharged around 3 years old.

user1471530109 - Sounds similar to DD it's so bloody hard and frustrating isnt it.

I will definitely ask about genetic testing, do I need to be more specific or shall I just ask?

I do sometimes think maybe she's just a sickly child, lucky enough to be born in a time with enough medicine to treat her symptoms, but without knowing what's actually wrong.

I can see a lot of dd in the ARFID descriptions! Thank you.

Some of the symptoms match Russel Silver Syndrome, but not the growth part, she's around 91st centile for height.

I wouldn't know where to start going private, I'm on and OK wage but I have good credit so I could spread the cost if necessary.

You say she had hydrocephalus when younger. Did that resolve ?
If it returns she may get hedaches / seizures due to that.
What are you mainly concerned about now ?
Is it more the appetite/ weight loss?

Looking at Coeliac: "Symptoms include diarrhoea, constipation, vomiting, stomach cramps, mouth ulcers, fatigue and anaemia"

The tiredness is the only one that sticks out here. No D&V, constipation, stomach pain etc. Same for Chron's with tiredness and appetite loss. But I will mention it at the consultant app Weds. I'm also going ask for more bloods and for them to check her kidney function again.

Thank you everyone, it has really helped just to have a bit of a timeline written down, after 9 years of this it has become a bit of a blur. And people always ask me why I haven't had any more kids!!

I don't think it was hydrocephalus in the end eggs, I remember I had to take her to have her head measured weekly until they were happy with it and then it wasn't really mentioned again!

I will ask about this though, I'm going to C+P a lot of this thread and take it with me to her app.

What am I most worried about?
Her weight. She looks incredibly underweight to me. I worry not eating enough means she has less energy, less concentration, generally less energy for life. I worry another bad chest infection or pneumonia will kill her, she has no body fat for energy to fight an infection (this may be bollocks, I'm no medic). I worry she's going to be incredibly susceptible to anorexia when she's a bit older. Also that her diet is crap, so I worry about her teeth, and her muscles not developing properly, she has no arm/wrist strength at all, can barely open doors. I worry the seizures and tiredness are something more sinister. I'm fucking exhausted.

POTS? marfans syndrome?

OP, my dd failed the genetic test for RSS and doesn't have most of the markers. But it is still on the cards.

I feel like your medics aren't taking this seriously enough! DD has had every test going. Genetic testing; every blood test I can think of....the list goes on. I know there has been meeting about her when she was younger! Her neonatal doc was fabulous and I think DD kept her awake at night as she couldn't figure out what was going on.

The lack of appetite is so frustrating. If I force and push her to eat more she will just throw up. She says she is full and the vomiting kind of proves her point. She is younger than your dd and had always been the same.

My dd is under an endocrinologist now. For growth issues. She was under many clinics a few years back. Dietician, SALT, paediatrician, physio, genetist, respiratory team, something to do with digestion ...I'm sure there were more. They still don't have an answer. But I feel at least they've looked iyswim. I know you're pushing for it. I'd insist!

What are her centiles?

Are there any other markerscthat point to a genetic condition....unusual features? Learning delays?...other medical conditions? Etc

Also ask about heart issues. I’m sure this has already been checked out though? The tiredness is the key thing that makes me think heart. But the seizures don’t fit that. Seizures I can only think head or kidneys....