Support thread for DCs with long term undiagnosed illness?

[SouthernComforts]

Hi everyone.

Not sure if anyone is in the same boat?

My dd is nearly 3 and has been constantly ill for over a year. Chest infections, Pneumonia, ear infections, tonsillitus, its never ending.

She has a SALT, dietitian, 2 consultants and a Gastro Dr.

Cystic Fybrosis is mentioned regularly but all tests so far have been negative.

She has been on antibiotics for a year.

She is seen by Drs regularly but none of them seem to have a clue as to why she is so poorly so often.

If anyone wants to come here and talk then please do, I feel like a broken record when I talk to my friends and family because it's been going on for so long!

I feel like a broken record too.

DD2 is 9 and has been ill with tummy pain since June.

The GP has sent us to hospital 6 (maybe 7) times now and they discharge her every time saying it is not appendicitis.

She's miserable, has missed lots of school and is not herself.

On Monday she began with D&V so GP sent her in again. They have put that down to an incidental virus.

She's been feeling really sick for four days now although D&V only lasted a few hours. She's had some food but not a lot.

She's slept albeit fitfully all last night and most of this morning and is still asleep now.

She's clearly poorly but nobody seems interested apart from the GP who can do very little. Seeing her like this is getting me down, never mind her!

Has your DD been referred to anyone?

Poor dd, that must be awful for you both.

Does it seem to follow a pattern, like after she's eaten? Or does it come on randomly?

It's hard isn't it, and so frustrating.

I want her to be referred to a respiratory Dr at Manchester, but so far I've only been referred to the Gastro Dr.

(When dd had pneumonia in Feb she stopped eating and was NG fed for 4 months. We noticed that she would vomit in the night what looked like an entire days worth of feeds, so there could be a digestion problem too)

Has your dd been given a consultant at your local hospital?

Don't have time for a long post just now, but will come back later.

DS1 was like this.

Multiple stuff related to his tongue tie. Very similar to the things that you mention.

All ok now since we got the tongue tie revised.

Frustrating is spot on. I can't make any plans because I don't know how she'll be and my childminding has now come to an end because of the hospital admissions.

Nobody can seem to find a pattern to it or a reason behind it. My gut feeling is that it is chronic appendicitis but that will only get confirmed if they remove it and they won't do that.

We have a consultant appt for the end of Nov but that feels like an awful long time away.

She's eaten lunch and seems a bit brighter which is nice.

Do you have long to wait for the gastro appointment?

Mawbroon, please do, I've seen tongue tie talked about on here but I'm still not sure what it is.

Snap Gold, dd has been ill for so long people don't really invite her to things, they just say see how she is on the day and let me know. I can't tell her that we are going to do X on Monday because she can change within an hour from just a runny nose to a full blown hacking cough and vomiting phlegm.

I think gut instincts are quite often right. You just have to stick to your guns, take her to the gp every time, get it documented, keep asking for a referral.

Glad she's a bit brighter now.

Dd was referred in March and we had the app last week, so a long time! It was cancelled and rearranged by the hospital once so it should have been a month ago. Nect app is January when they might put a camera down (endoscopy?) Into her stomach and bowel.

Poor little thing. That's a lot for a little one to cope with.

At least my DD understands a little of what's going on and why although she point blank refuses to let anyone take blood which is really not helpful.

When ds1 was younger, he had non stop illness. This was despite exclusive breastfeeding to 6 months and then long term after that.

He had tummy bug after tummy bug, congestion and pain in his ears, as well as hearing loss, sore throats, large tonsils, allergy and intolerance, digestive problems and we were constantly on poo watch because his poo was never right.

He had borderline anaemia, his sleep was appalling, his behaviour was mostly ok, but he had real trouble behaving when he was ill. He seemed to display sensory problems too, he hated wearing trousers, preferring to wear shorts "because I don't like the legs" on trousers, he screamed if he got a drop of water on him.

He was also a fussy eater and one by one he dropped eating things that he had previously eaten until his diet was really restricted (coupled with the allergy restrictions of course).

We were regulars at the Sick Kids hospital, seeing respiritory for his allergy, audiology and ENT for his ear trouble, gastro for his stomach problems which came later as well as seeing the GP regularly for things that I just couldn't put my finger on.

When he was about 5, he started complaining of a sore tummy all the time and his eating because even more restricted. He was able to verbalise where and when the pain was, and it became obvious he was suffering from reflux as he often complained about being sick in his mouth. He was also really bloated after eating, and his stomach seemed to get bigger as the day went on. He would often eat a tiny bit then say he was full, then complain of being hungry soon after.

So, off we trot to the Sick Kids where he was put on Omeprazole. It didn't really help much, so they kept upping the dose. After a while, they said they wanted to do an endoscopy which didn't reveal anything other than irritation from the reflux. They didn't really have any suggestions as to what was actually wrong with him.

Then I read on MN about the connection between tongue tie and gastric problems. I had thought when he was younger that perhaps he had tongue tie because we had had problems getting breastfeeding going, but I hadn't thought any more about it.

So, it turns out that he was indeed tongue tied. So he was unable to chew and swallow properly. Swallowing partially chewed food was giving him a sore throat, and he was also swallowing down a lot of air, causing the bloating. When the air tried to come back up, it was bringing the stomach contents with it, causing the reflux. Also, I suspect he was suffering low stomach acid (can be caused by inflamation of the stomach, which the endoscopy showed) which left him succeptable to stomach bugs, and also leaky gut syndrome which is linked with allergy and intolerance.

His tongue tie also has caused a high palate. The high palate takes up room required for the nasal passages, so he can't breathe through his nose, and the palate also encroaches on the space needed for the eustacian tubes, so his ears were unable to drain properly. I suspect that his "ear infections" were actually irritation caused by gastric fluid being forced into his tubes by the reflux.

Tongue tie also explains the fussy eating, the poor sleeping and according to what i have read, it may explain the sensory stuff too.

Going to post this now before I lose it all!!

Right, so to continue, tongue tie is where the lingual frenulum is short or tight and restricts the normal movement of the tongue.

Some are really obvious, and some are impossible to spot unless you are knowledgeable and skilled. I never came across anybody knowledgeable and skilled which is why ds1's went undiagnosed until I discovered all this myself. Most HCPs know nothing, or very little about tongue tie.

DS1's tongue looked normal, he could stick it out, he could lift it up high. He had what is called posterior tongue tie where it's the back of the tongue that is restricted. Tongue tie can cause speech problems (I note OP that your dd is under a SALT) but ds1's speech was always really good, apart from a tiny lisp.

When I suggested to the docs that his gastric problems were linked to his tongue tie, I was basically poo pooed and told that it wasn't possible, and anyway, his tongue didn't look bad to them anyway. I now know, of course, that they were not knowledgeable about tongue tie.

As well as all the things I mentioned in my previous post, ds1 also has orthodontic issues and has just got a brace to expand his high palate and headgear to draw out his face which is flat (not so that you would notice until it's pointed out). This will help open up his nose and hopefully he will be able to stop the mouth breathing.

The gastric stuff stopped when we got his tongue tie revised at the beginning of this year. I later found that he wasn't revised properly, so we had it done again by dentist who uses laser. He also had quite a restrictive lip tie revised.

I don't know if any of this chimes with you OP. How does your dd sleep? Did you breastfeed, or try to? How did that go? Often the breastfeeding story gives a lot of clues about tongue tie. Does she have any food sensitivities/allergies? Fussy eating? Problems with gagging or choking when weaning? What shape do her gastric troubles take? I see you mention respirotary probs, ds1 doesn't have any probs in that dept, but it's common amongst tongue tied kids.

If you think tongue tie is a possibility, I can point you in the direction of knowledgeable people!

other things which may or may not have been considered by your docs already - apols ic they have been - are gastro oesophageal reflux disease and milk or other dietary allergies. GORD can cause pneumonia and lung damage if very severe .

Mawbroon - I'm really intrigued by your posts. Sorry to hijack the thread! I am another frustrated mum of a ds2 3 yrs who has gastro issues, anaemia (mild), suspected asthma, eczema and allergies and who is constantly tired and grumpy. We are pending investigations for coeliac and diabetes (last blood draw, v distressingly was coagulated and needs to be repeated). Like others here the gp seems helpless, am sure thinks im being pfb - my mother thinks its post viral and im being silly. But post viral lasting 9 months? With anaemia? Luckily my gp is quite pliable so just did as I asked! But I would love more info on the tongue tie - he has speech issues (like he can't get his mouth round his teeth) and had a tongue tie snipped at 6 weeks. Again, he sleeps dreadfully and I am on permanent poo watch!

I would really appreciate more info!

What type of info are you after? Don't want to go off on a tangent!! Do you have specific questions?

Ummm not entirely sure - just spent the last half hour reading some of the site you linked to on the other thread.

I guess mainly - how to determine if tongue tie is involved with ds2 issues. Where do I start, who do we need to see? Should I speak with dentist or doc. I must admit I am getting concerned about speech. He pronounces grandma bwammar and myself mysuls. HV not interested, just said its really common in young children..

Southern comfort - so sorry for the hijack. You might want to look in to gut dysbiosis - imbalance of gut bacteria leading to immune issues. 70-80% of immune system resides in gut associated lymphoid tissue which is heavily protected and involved with friendly bacteria. Antibiotics will have killed off masses of her protective bacteria, directly lowering immune function.
A good naturopath or nutritional therapist should be able to help with this, while you persevere on trying to find the root cause of the problem.

OK, well, you have asked the million dollar question about diagnosis. HCPs are sadly lacking in knowledge about tongue tie. You need somebody who really knows and understands about it and sadly, that doesn't generally tend to be the NHS.

There are two dentists in the UK who have trained under Dr Kotlow who is a leading expert on tongue tie. One is in Huddersfield and the other in London. Either of them would be able to diagnose correctly. Actually, now I think about it, I heard the Huddersfield one is only doing babies up to a year and children over age 6, so that would rule it out for you, although he might be willing to diagnose, although I am only guessing.

It may also be worth contacting milk matters although I am not sure if they only deal with babies. Saying that, they might know of knowledgable people in your area.

There is also a really good facebook group where you can post pics for comment. Obviously nobody can diagnose for you from that, but they may point you in the right direction, there are some real experts on the group .

What happened with the snip at 6 weeks? If his tongue is still restricted, it could be that one of several things happened. It could be that the revision wasn't done correctly to begin with, or that the site healed back together (I'm guessing you weren't told to stretch the site to keep it open), or that an anterior tie was released but a posterior one missed. Lip tie is also an issue, although it is usually overlooked by most hcps. DS1 had his lip tie lasered last month.

Also, by age 3, most people you ask about this will say that it is neccessary to use GA, however the knowledgeable practitioners use local for any age. It is important to be able to assess the tongue function after the procedure which is not possible under GA. The procedure only takes a couple of minutes using laser.

The more I learn about this, the more incredible I find it that such serious health problems can occur from a tongue tie and I believe we have lots and lots to learn about it. I would love to see all babies being checked at birth, but I think we are a long, long way off from that.

Wow, lots of replies thankyou everyone. I'm in the middle of 4 straight late shifts so I keep popping on for 10 minutes but I really want to sit down and read properly, and look up a few conditions mentioned, so I will reply properly tomorrow evening.

Thanks again!

And no need to apologise for hijack I want this thread to help anyone with undiagnosed DC, there is a lot of knowledge and experience on here.

also, has your DD been tested for the rarer and actually often less severe variants of CF? Coeliac ?

goldmandra has the GP mentioned abdominal migraine? I suffered with it as a child and had constant stomach pain, tired, feeling sick, being sick etc until it was diagnosed and medicated. Just a thought xx

goldmandra has the GP mentioned abdominal migraine? I suffered with it as a child and had constant stomach pain, tired, Mfeeling sick, being sick etc until it was diagnosed and medicated. Just a thought xx

Thank you Mawbroon. I will look into that further - Huddersfield isn't too far from us. I have to say that I would not know if the tongue tie re healed or not - you're right I wasn't shown about stretching it. He never had any issues feeding and my milk supply was always good (he's still bfeeding now!) so it's hard to know from that! The only reason it was picked up was because I happened to mention to a midwife in hospital in passing that it was a bit more painful than I remembered from ds1 and his latch didn't quite feel right - the next thing I was pounced on by 2 bfeeding consultants and he was diagnosed. I really had to push for it to be snipped though!

this is the dental practice in Huddersfield might be worth asking if he will at least diagnose even if he won't treat at this age.

Tongue tie is so varied, lots of people assume that there are always feeding difficulties, but it just isn't the case! ds2 is also tied (he has lip tie too, causing a gap between his teeth), but he has none of the issues that ds1 has had and he fed beautifully from the word go. Saying that, his poo is never quite right and unlike with ds1, I have concerns about his speech.

Let us know how you get on!

Is your DD caucasian? I ask because I was recently told that CF can present differently in different ethnic groups and doctors are only becoming aware of this now.

Hi everyone. Sorry for the late reply.

Mawbroon- your poor ds has had a rough time! Are things improving now, is he eating better?
Dd was born 12 weeks prem. She had suspected NEC, and was treated for NEC, but it was odd that the symptoms occurred before her first milk feed, which is unusual.

Despite that she has never had any bowel problems that I'm aware of, normal regular poos etc. And apart from being tiny she put on weight slowly but surely.

But- because of the NEC she was nil by mouth until she was 10 days old, and milk was introduced in tiny amounts (1ml/hour) via NG, and I think this is the root of her eating issues, I don't think she has the instinct for food that we do. She never cried in hunger, she drank her milk because she was in a routine but I had to wake her in the night for feeds until that became routine. I hope this is making sense! Weaning took over a year and she has never eaten 3 meals in a day. She has zero interest in food.

I never got chance to breastfeed because she was on SCBU over an hour away and I had to express. She moved to prem formula at 8 weeks because she wasn't gaining weight.

For the next 18 months she was basically fine, the only issues were with weaning. Hv and gp were uninterested because she was following a centile and not losing weight. She was still on 3-4 bottles of cows milk a day - the only thing she was interested in.

By about 20 months she started losing weight when milk and small morsels of food wern't enough. Again hv dismissed my concerns. Just before her 2nd birthday she got a cough and cold that never went away. She started on antibiotics and has been on them ever since. By February she had pneumonia. She was in hospital for a month. one week in she stopped accepting fluids and was NG fed. She took a long time to recover, and this is when the SALT, dietitian, consultant and HV got involved.

NG feeding was horrific, they worked out she needed 1000 ml a day Frebrini to thrive. So 5 200ml feeds. DDs stomach cannot hold 200ml of liquid but they wouldnt accept that. Queue 3 months of vomiting 5-7 times a day. I obviously didn't force 200ml into her despite the dietitians ordere but even 100 or 50ml feeds could make her vomit. The phlegm from the constant chest infections would curdle the frebrini.

Going to post before I lose this ramble

Fast forward to July, endless gp visits, consultant apps, different antibiotics, 2 CF tests (blood and sweat), a gastro referral later and I finally managed, with the help of the surgeon wanting to do a gastrostomy, to get dd to drink the frebrini. She was days away from an emergency op.

Since then the chest infections have continued, but without the NG tube the vomiting has almost stopped.

Narmada - she has only had those two tests, I've asked for more but they are unwilling. At the last gastro clinic they took a lot of bloods, would they routinely check for coeliac?

And yep she's Caucasian

Think I've got most of the info in there, sorry for the huge ramble. I'm going to look up GORD and get back to you.

Clumasaurus yes that has been mentioned but seems to be being lumped in with the diagnosis of Chronic Abdominal Pain of Childhood.

I have just been chatting with the school nurse about how unsatisfactory I feel it is to have decided this is a chronic condition with no organic cause when so few investigations have been carried out. She agrees.

I think I am going to approach my GP about the possibility of a CT scan. We discussed it last Monday night as he was arranging for yet another admission to the children's ward and he wasn't unsympathetic to the idea.