Help me get a diagnosis for DS - 4 next week

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Apologies in advance for HUMUNGOUS POST - am at wits' end and just want some help trying to decide what to do next.

DS1 was a lovely child, until the week after his birthday last year, when he started behaving very differently. It started out of nowhere, refusing to go to nursery and crying about being "poorly". We thought it was just an ear infection or similar, and carried on. Since then, he's had:

• several sporadic and unexplained bouts of diarrhoea lasting several days
• inability to potty train (bowel and bladder incontinence, day & night)
• complaining of being "sore all over", "having sore skin" and having "tingly skin" as well as various sore limbs from time to time
• change in appetite, fussiness with food and eating only with hands
• started to sleep more and more during the day, then night wakings screaming about "bad dreams" (this has since resolved itself, but he still get very very tired as the day goes on and is past his best by 13:00)
• always complaining of a sore tummy
• constant wind, rumbly tummy and hiccups/burps etc.
• he is hypermobile, has flat feet, eczema (worse at extremities and around mouth)

In isolation, there was nothing radical about any one of these symptoms. They also occurred around the time I got pregnant and went on to have DS2 so we sort of dismissed them individually. Things have since only gotten worse for DS1, who now has really undesirable behaviour at least twice a week (seems to be triggered by him being in pain/discomfort as he lashes out and is immediately sorry) and is now back in pull-ups as he's been going through 6-8 changes of clothes each day for a year. We've seen a consultant privately, who thought he had an allergic bowel and he now follows a diet free of dairy, wheat, soya and egg. Things improved with the bowel/bladder after that for a number of weeks (since returned) and his tummy noises are less audible from across the room (he also has less wind!). However, he appears overall to be in more/the same levels of discomfort/pain, his behaviour and incontinence is causing issues at preschool and he just seems miserable almost all the time. DS2 now also has problems incidentally - probably silent reflux and CMPA. That's it. Please help me figure out what's wrong. HV assessment next week to help us identify the specialists he needs to see. Can't see the wood for the trees... Any advice or experience of these sort of issues very much appreciated!

Have you tried a full food diary followed by an exclusion diet. Focus on the things he has most regularly. This is where I would start.

It may be something you inadvertently cut out when you restricted his diet and reintroduced without you realising it. I have IBS and I am intolerant to pork and all processed sugars. When I eat them I have problems within an hour or two and then again 24 hours later. What I am saying is focus on things that may cause an immediate reaction but keep an eye out for later effects.

An exclusion diet is extreme but it is your best chance of beating this. Do not buy any processed food - make everything from scratch with limited ingredients. It took me two years to work out what was causing my problems and I'm in my thirties.

Good luck.

I would definitely ask consultant to consider an impaction - you may not think he is constipated at all but it can be causing both the bowel and bladder problems including increased wetting at night. He could be having overflow and it would certainly explain the appetite and the wind and sore tummy as well as all incontinence issues. You do not need to have any hard stools or straining to be impacted whatever a GP may think. Presumably you will see a gastroenterologist, don't expect a GP to be able to diagnose this if this is what it is. I am presuming he has been tested for coeliac etc before you changed diet.

Your poor child :(

Hassle the medical professionals about this.

I know another poster on MN who had serious issues with her two children. In the end she put her second child on a diet which was very basic but contained all the nutrients needed and he thrived. Her name was sleepywombat I think. Worth searching for her as medical professions were useless in her case.

Did you switch his diet to soya based? That stuff can be nasty too. An exclusion diet could be the thing to try. It is hardcore but may be the only way.

Sorry saw you were soya free.

Hi! Thanks all!!! Consultant explained the risk of impactipn and used laxatives to "clear him out" before embarking on the free-from diet. Also prescribed cetirizine to lessen reactions. There was a big improvement t in bottom and tummy noises but we're still missing something I think. He just phoned (returning my pitiful Saturday morning email to his secretary) and suggested oxybutynon for the bladder issue. Will look into omeprazole in another fortnight if no further improvement I think too. Feels like a lot of meds :(. Will definitely look up sleepywombat; thanks c much for the suggestion! And also will ask HV about paed gastroenterologist as the consultant we saw is an allergist, I think. Keep googling, which is a mistake as it is making me worry! Just feel sad for him that he's completely been through the wringer and we don't seem any closer to a solution yet. DS2 will be up for his 2-hour refluxy-can-only-sleep-lying-upright-on-your-shoulder session soon too so should try to get some rest. He's on ranitide now so hoping for some improvement soonish too...

Check side effects of the medication as well.

Also for tummy troubles try peppermint tea (just s few sips) as it helps relax tummy muscles. Also a teaspoon of fig syrup every day which I used to keep ds regular (he had silent reflux as a baby and numerous intolerances).

Also how old is ds2? I could get some rest if I lay mine (both had silent reflux!) on their left hand sides to sleep. They eventually became tummy sleepers.

Some of this sounds familiar from DS1.

It turned out that tongue tie was the root of all his problems. He suffered with:

• gastric troubles (reflux, allergies, intolerances, loose poo, bloating, wind from both ends, hiccups). He was also anaemic, probably because his gastric troubles were stopping good absorption of iron and was completely exhausted and found it hard to behave well all the time. Digestion begins in the mouth and if the tongue is not stimulating the other muscles correctly because it is restricted, then it can have a knock on effect on the entire digestive system. Also, sometimes there can be a lot of air swallowed down if the tongue is not moving correctly during swallowing.

-sleep problems. His tongue tie caused a high palate which is related to sleep apnoea. He snored from very young and I witnessed some apnoea although it seemed to come and go. When he was around 6yo, he was particularly bad, thrashing around every time he stopped breathing. Around this time, he complained a lot of pins and needles and sore joints, both of which can be symptoms of insufficient oxygen.

• fussy eating. The back of his tongue was tied very tightly and he had real difficulty chewing. He would only eat soft food and hated anything that required any amount of chewing.

He had other things going on, including congestion in his ears, hearing loss and noise. He was mouth breathing too which can cause structural changes to the jaw, and is currently undergoing early orthodontic treatment to expand his palate to make room for all his adult teeth, and wearing headgear to open up the nostrils. We had his tie revised 1.5 years ago, and every one of his symptoms has disappeared.

Does he have any other symptoms of tongue tie? How did feeding go - either breast or bottle? Speech? Does he dribble?

Thanks all for your input - will definitely check med side effects. Great idea re peppermint tea and fig syrup - will swing by holland & barrett tomorrow. REALLY helpful post about the tongue tie, Mawbroon - thanks very much. Will ask HV about how to have this checked. He does dribble a lot (mostly at night) and we couldn't BF as I couldn't get a decent latch, so that's lining up with our experience. Speech is very good but he may have learned to overcome that, I guess..

The same consultant dx'd the hypermobility and the allergic bowel. Have PM'ed you re the consultant name Poltergoose. He did explain a bit about hypotonia when we discussed the incontinence but not to any great degree. He ran blood tests for "key markers" and a coeliac test, which DS1 was negative for and he seemed quite surprised by!

DS2 is 9 months and last night, by some miracle (ranitidine? already?) slept through but was bit unsettled. Don't want to get hopes up but maybe the ranitidine will really help?

Interesting to hear that he wouldn't latch and that he dribbles. This info, coupled with what you have already posted certainly make me think that he should be checked for tongue tie.

But here's the problem.

Most HCPs are pretty clueless about tongue ties, especially the posterior ones which are difficult to spot unless you know what you are looking for. You need to seek out someone who has taken a specialist interest. There are all sorts of myths about tongue ties floating around which make it hard to see the wood for the trees. And the NHS, if they agreed to do anything about it would do it under GA which is neither necessary or desirable. Unfortunately, the only option for having it done without GA, by laser, in the UK, is privately at the moment.

DS1's speech was great btw, he had no troubles with it at all. He just had every other problem going!! I have put some pics of his ties and palate on my profile btw. These were from when he was 6yo, before revision. It might be helpful for comparison, but there are many variations, so your ds's tongue may look nothing like ds1's. DS1 could stick his tongue out really far and lift it really high. It was the back that was tied.

There are a couple of tongue tie support groups on Facebook which you might want to join. They are mostly about babies, but there are some parents of older kids on there too.

I would try to expedite your next paediatrician appointment. I'm a GP and while there are various rarer conditions that could cause bowel problems and other symptoms, it needs a specialist to look into it further and arrange more tests as necessary, possibly for some genetic conditions. I've been through feeding difficulties and numerous contact with specialists with my ds1, and treating blind without knowing exactly what the problem is can have its advantages, but isn't always helpful. You can spend a large amount of time trying to decide if symptoms have or haven't been improved by a certain medication or if it might be due to something else, or think something has helped only for symptoms to deteriorate again. Where is your paediatrician based? By that, I mean are they in a district general hospital or a large city-based paediatric unit? I would ask for a referral to a paediatric gastroenterologist, who will likely be based in a big city teaching hospital. Not wanting to knock the care of district general paediatricians, but it does make a difference to see a specialist in gastro problems. All the best x

Just back from GP appointment for DS2 - he refused to discuss DS1 at all. He was VERY reluctant to refer to an NHS paed as I'm "already seeing one privately" but did after I went on and on and on about it. Had a really bad night with DS2 last night so was exhausted. He was pretty dubious about the CMPA and the reflux and is still insisting it's most probably a gastro D&V bug. Kept saying "all babies are different" and "he might just be a problem child hahahahaaha". He seemed generally very irritated by me throughout the appointment (not helped by me almost crying). :(
Basically made me feel like a neurotic big crybaby :(

I'll wait for the NHS paed referral (big district general hospital with a paediatric unit) - can you ask to be referred to someone specific? I didn't know that?
I have, in desperation, applied for a private appointment for both boys together with a paed-gastro specialist at The Portland. First available appointment is mid-April, but I'll take what I can get!

Thanks VERY VERY VERY much for all the input - really appreciate it!

Urgh, some doctors make me so angry

I'm not sure if I mentioned earlier that tongue tie runs in families. It's quite possible that your DS2 may be tied as well.

Can you see another gp? I went three times in three weeks until they took me seriously.

You can ask to see a specific consultant. Also, it is a good idea, when your appt comes in, to phone and check that the consultant you wish to see is actually in the clinic on the day. Sometimes, they may not be available if they are on call, away on study leave etc. These apps are given by clerical staff and they just give whatever date is available (clinic nurse for many years!)
When you arrive and go to reception desk, say you wish to see Dr X. In some clinics, cons and another dr may be working together and whichever dr is free when your turn comes, will call you. You can also spoke to the nurses and reiterate you wish to see Dr x only. Hope this makes sense! I can only speak from how we worked, other areas may, of course work differently.

Thanks Olddear - I am waiting for the NHS referral for both (one through the HV as GP point blank refused) and one through the GP (reluctantly agreed). In the interim, I am taking both to see a paediatric gastro specialist in London that i've heard a lot about, who is wiling to see them both together and take a holistic approach. He also works in the NHS so hoping he could then refer us back into the system if further tests/treatment are needed. So disspiriting but have to keep trying as don't want them both struggling on with this undiagnosed

I spoke to my gp about possible cows milk allergy with no luck.
In the end i worked out it was a soya allergy. Made worse when she was teething, we seem to get projective vomiting then (even without any soya)
But soya is in so many foods including formula, yoghurt, ice cream, chocolate, biscuits.
I dont know if mine had a tongue tie but i see she has a lip tie which apparently is very common with TT.
She is also a tummy sleeper. How old was DC2 9m?
I also avoid sweeteners ie squash and calpol due to reactions. (And they are laxatives)
I am lucky mine seems to have gone away, but may be affected when potty training as sometimes a bit loose.
Also the grandparents and OH are really annoying going on about giving her chocolate (so im secretly a bit glad as they would be really pushing it otherwise, hoping theyll get over it by the time she grows out of it.)
Hopefully the specialists can help

naty, it's the other way round! If there is a lip tie, there is pretty much always a tongue tie, often posterior.

Just to give you some hope, DS1 had reflux, bloating, bad wind, egg allergy (iGe) and dairy intolerance he also seemed to have some sort of tummy bug at least once a month with temp and diarrhoea. We were on poo watch for years and years and his diet was very limited without egg and dairy combined with fussiness and difficulty chewing.

His reflux stopped immediately after revision of his tongue tie and his poo became normal shortly after. I stopped giving him the medication (Omeprazole) the day after his revision and he now seems to have a gut of steel!! I can't remember the last time he had any kind of stomach problem (or anything actually, he was always ill when he was younger) and he has endless energy.

A far cry from the pale, tired, ill wee thing that he was when he was younger.

I can't promise that revision will do this for everyone, but it was a huge success for us.

Mawbroon, if you would be comfortable sharing the information, could you PM me the details of where you had the revision done? I asked the HV to check DS1 when she was here and she said he possibly had a slight TT but it would be "impossible" to do anything about now.

I am happy to post on here webminx. He was revised by John Roberts at Cote Royd Dental Practice in Huddersfield. It was just a couple of weeks before his 7th birthday. Unfortunately, last I heard, John was only doing under 1s and over 6s.

Which leaves one other option which is Malcolm Levinkind in East Finchley. He also uses laser, so no need for GA and does lip ties too if deemed necessary. I believe he does all ages.

It is quite common when people describe one as a "slight tie" that they are going on appearance of the tie, but the appearance is irrelevant, it's all about how the tongue functions.

There are pics of ds1 on my profile btw, pre revision. Does your DS have a high palate too?