Anyone experienced with auto immune stuff know what could be wrong with dc?

[Ouchmyheadhurts]

So my ds has had explosive diarrhoea since January this year. He can go up to 8 times in a day. Some days are worse than others. There is no pattern and have taken a food diary and no pattern there either.

He had stool sample sent off and I was told it was fine, no inflammation. Was referred to gastric paeds and the wait was massive with no appointment given so went back to gp. They arranged another stool sample (fine also) and bloods. Bloods were done and I had a call from the hospital the next day to say he had to be seen within 2 weeks. I got myself all scared and wound up, turned up at hospital for the consultant to ask if any bloods had been taken (despite me telling him we were called in due to the blood results) he said bloods fine, felt his tummy and said fine. He took history of ds and because he couldn’t have dairy as a baby decided it was an intolerance. Was told to do 4 weeks no dairy and then 4 weeks no wheat, 4 weeks no fructose.

Last 2 weeks he’s had no dairy at all. There’s been no change. Still having stomach ache and explosive diarrhoea. I then had a call last week saying some more blood results were in and that he needed to see the gp as his anti nuclear was abnormal. So today went to gp but I’m non the wiser. She said that his red blood cells were ‘smaller than normal’ and that his ferritin was at the low end or normal and that something was ‘speckled’ but she didn’t know what that was and hadn’t seen it described as that?? She said she could prescribe iron but I said I know it can bung you up a bit and I didn’t feel that was wise (he’s also autistic) and she agreed for now as we don’t know what’s wrong with him. She said the bloods indicated an auto immune disease but she can’t say what as it isn’t diagnostic (which I know). These blood results weren’t in when we saw the paed 2 weeks ago. Bloods said negative for coeliacs but i said I thought only really a biopsy could diagnose and she agreed. She has sent the results to the paed to await his opinion. I don’t trust the paed as he was so dismissive and barely looked up from his computer when we were there.

Is there anything they could be missing? He doesn’t have many symptoms of coealics but I don’t know what other auto immune problems cause his symptoms? He is also hypermobile but don’t think that’s relevant.

I’d be greatful for any experience or advice.

Anyone around? I spoke to a gp on Friday and they aren’t concerned about the blood as it’s red. Said just see how he goes. They aren’t concerned that he seems to be developing reflux this week? They say it’s just stress of the situation?!

I was just talking to him and he says when he’s opening his bowels it’s hard to pass and then it ‘splats out’ as in diarrhoea. Is this presenting more like a blockage?

I don’t know what to do. We have just over a week for his bloods to be re done and no one interested in the mean time? Gp says wait for the bloods and try not to worry?

Although he isn’t vomiting and eating fine so maybe it can’t be that....

Just some random thoughts/a brain dump from reading your posts...

Sometimes 'splatty' diarrhoea and increased BMs can (counterintuitively) be a symptom of constipation.

Have you researched 'dumping syndrome'? Often has autonomic involvement which commonly presents alongside hypermobility.

As PP have said hypermobility/EDS affect the internal organs/GI system sometimes causing chronic problems. Unfortunately there is very little research into this and therefore no standard treatment pathways.

It really is worthwhile trying the exclusion diets. Have you heard of FODMAPs? Is he under a dietitian?

Red blood in stool can sometimes be from anal fissure. Recommend getting some aloe vera moist toilet wipes if you don't have any already to soothe (not the best environmentally I know)

Persevere with coeliac investigations/gastroscopy. Often people present with atypical symptoms or 'silent coeliac'.

Has he been offered meds for diarrhoea/IBS? Enterogel etc. I understand not wanting to treat symptoms without diagnosis but even with diagnosis it is often a long process of trial and error. Management of symptoms is key.

Has he had a Gastric Emptying Test? May see if rapid transit is causing problems and then can treat.

Brain and gut are hugely linked. Trying something like the calm app, building in R&R or perhaps asking to be referred to someone to help support him living with chronic symptoms/the diagnostic process might help teach him some useful tricks to dealing with his symptoms. It is hard.

Reflux can be helped enormously by diet and sleeping spring up/at an angle.

Hope you get some answers soon OP.

If ferritin stores run low this may then cause the Hb to fall - the classic diagnostic test for iron deficiency anaemia. Ferrous sulphate is not the only option - spatone or solgar is more gentle.

The only tests he’s had done are the stool tests and blood tests which showed low end of normal for ferritin, smaller than average red blood cells and ANA abnormal. Why is the paediatrician not concerned about that? Genuinely?

We are on the exclusion diet. This is the last week of dairy free (which has made no difference) and then on to wheat free but I don’t want to go wheat free yet in case they will do the coeliac biopsy.... although that isn’t looking likely.

He isn’t getting stressed about it, just me! And no I don’t make a big deal about it in front of him, all my venting is on here! He’s quite content other than when he’s in pain.

The reflux has just started over this week/last 5 days or so. Not a problem at night. When he’s been sat still watching tv and today when we were having a walk...... I know a lot about reflux due to other dc.

I'm not sure whether your post was in reply to me, but what do you mean by 'abnormal' ANA? Was it positive or negative?

Microcytic anaemia could be explained by his low ferritin stores? I think you've been offered ferrous sulphate to address that?

Pain is stressful to the body. Living with symptoms is stressful to the body. A PMP might be an option. I'd be looking at/open to any avenue to address symptoms.

Good luck.

Sorry yes just rambling out loud. His ANA was ‘abnormal’ no positive or negative just abnormal and was ‘speckled staining’. Gp more concerned than the paediatrician.

Yes I hear what you are saying re pain. I have been open to anything, he hasn’t been offered any kind of medications at all. Iv tried alternative therapy, Iv tried good bacteria’s etc.

The gp didn’t offer anything as he isn’t anemic. I asked about iron and she said she could prescribe some but would be too harsh and prob do more harm than good at the moment. His diet is good, I’m making sure he’s had extra healthy foods high in iron.

Speckled ANA could definitely be another piece of the puzzle, or could be linked to his hypermobility.

You seem to be in the (very frustrating) position where no one is taking the lead. Sometimes it is a case of deciding to try a treatment/approach and then reviewing and then either continuing/stopping/trying something else. This can be patient led under the supervision of your medical team.

Obviously this is a very long process and you can only do one thing at a time (and you're already trying to do the dietary approach). IMO it sometimes better to just list/tell the doctors what you want tested/ruled out/to trial as you and your son know his body best and you can do your own informed research. Ofc be led by the doctors but as your son's advocate you have power too.

If he is under lots of doctors a hospital liaison might be helpful.

Also an adjustment in mindset is sometimes useful. I myself was always very diagnosis led but have personally started to adjust my mindset to lower my expectations of a diagnosis and what doctors can do. Going forward with a more collaborative approach has made the process much easier.

Just keep pushing OP.

No one has linked the Ana to his hyper mobility. How are they actually linked? Gp said coeliacs can’t be ruled out at the moment... but the paed aren’t really bothered. I can see having to go back to gp to be asked for second opinion but it all delays getting it sorted. He’s 8 months like this.

Could he have proctitis? I have that and have lots of bowel motions like diarrhoea, but actually I get constipation because my bowel 'holds on' to avoid pushing past the irritated tissue. If I treat the proctitis (suppositories) then I start to pass more solid motions again.

I don’t think So..... his blood tests don’t show any inflammation. That’s why the paed isn’t concerned.

Speckled ANA can sometimes seen in some mixed connective tissue disorders of which hypermobility could be a sign or symptom, that's all I mean.

Yes definitely good not to rule out coeliac at this stage. Perhaps when you speak to your GP for second opinion ask about the possibility of doing his wheat free trial afterward a gastroscopy, as you say, and doing whatever the other exclusion was next instead.

If there is the option to go private I'd also consider it, particularly as you've had a lot is testing on the NHS so have results you could take with you. It is a long slog and given my time again (it took 20 years of daily symptoms to get my diagnosis...) it would be something I'd save up for it I could.

Thank you, no one has told me that. The gp said she had never heard it be described like that and didn’t know what it meant!

Trouble is and I don’t know why but the blood results came back in two days but the abnormal ones took 3 weeks, is that normal? Gp will just say wait for results.... which as bloods are a week away that’s potentially another month before results? When he was referred to gastro we weren’t even given a date of apt, not even in 6 months time as they are that busy.... I only got to see this paed as I went back to gp to complain? So I’m worried about even more delays but hoping as he’s in the system a second opinion won’t put us back to the start.

Gp doesn’t have much of an opinion about the food exclusions so she won’t care if I delay going wheat free at all. She agreed with me about how he can’t have the biopsy done when he’s not eating wheat....

Iv thought about going private but I have no savings and a single parent, I’m his carer so only have access to a credit card. This is a never ending amount it could cost especially when investigations start.....

Yes that can be normal - different tests take different amounts of time to be processed by the labs and they send them back to the GP just as they arrive rather than in one job lot.

Commonly you can pay for a initial consultation and then be referred back on to the NHS for testing, kind of like a queue jump. But like I say it is a lot of money to save and I've never been able to do it myself either - just playing the waiting game.

Good luck and hope your DS finds some relief soon.

Sounds like it may be coeliac disease. Diarrhoea and reflux are both symptoms, as well as alternating stools and having blood in the stool.

Blood tests can be have false negatives for many reasons and biopsy is the gold standard for diagnosis. I've always had negative bloods and even some coeliac specialists I've seen haven't been able to grasp this but the link below explains it more. IgA deficiency's are common in children that have food allergies, which will produce a false negative. If you DS had issues with dairy, it could be skewing the results.

https://www.coeliac.org.uk/information-and-support/coeliac-disease/getting-diagnosed/blood-tests-and-biospy/

I wouldn't eliminate wheat tbh until you get more info with ruling out CD as that could produce a false negative even with a biopsy.

Thanks for replying I appreciate it.

Paed is not coeliac, me and gp aren’t so sure, at least the gp agreed blood isn’t enough to rule it out. However she did say biopsy obviously not a nice thing. I’m wondering if, as he’s autistic, if they would do it under GA. many years ago I had a camera (gastroscope?) in the mouth as I had a stomach ulcer and it was the worse thing Iv encountered in hospital! I had two lots of sedation but it didn’t work and I was pulling the camera out of my mouth and it caught my throat. He had something done a few years ago where children are normally awake and the consultant was amazing and said of course he will have GA.... wondering if we will get lucky enough again?

Trouble is if I don’t go off wheat, which is end of this week for 4 weeks, then that paediatrician will get arsey as I haven’t followed his advice? He does eat wheat every day and I would say at least 2/3 of his meals has wheat in. He doesn’t have one day worse than another? Yesterday (before dinner) he was on the toilet and he said he felt very sick and had the bucket. Then half an hour later he didn’t feel sick but this may be the reflux? If he burps he’s now sometimes complaining about it hurting. So he is definitely slowly getting worse. I think, at almost 4 weeks, we can rule out dairy intolerance.:.

ANA speckled is not always a sign of something being wrong. It can be a normal result so to help track down the cause of your son's diarrhoea it isn't helpful.The paed seems to be working through most likely causes in a methodical way but I can understand your frustration. When my DS has an endoscopy it was done under general anaesthetic, he was 15 at the time and that was the policy for children.
If I were you I would write to your paediatrician and update them particularly if DS is losing a lot of weight. As far as cutting out wheat is concerned there is no right answer. He might get some respite from his symptoms . If an endoscopy is scheduled you will get plenty of notice and can reintroduce wheat in time for the biopsy I would have thought. If his symptoms don't improve on 100% ( it has to be) exclusion then he is not likely to be coeliac.

That good to here about your son having a GA. it isn’t a nice process and can imagine a child physically kicking off is not going to be a good situation to enable them to get a biopsy!

I don’t know how long you have to be on wheat before a biopsy. Are you saying if I took him off wheat/gluten and he suddenly got better he doesn’t have coeliac? I thought that if you did have it, that your diet was the only solution? As in complete wheat/gluten free diet was the only way to solve it?

His bloods are next week...I just don’t know what to do. There is no point writing to the paed, they are useless, can’t even speak to his seceretary on the phone!

He has lost weight but less than half a stone so they aren’t including that as a symptom. His belly is very distended, he calls himself fat which is horrible as he isn’t but his belly is big

It 6 weeks of having gluten before a biopsy to prevent a false negative. The trouble is if you take him off wheat and he improves, you then won't know if it's CD as it will look like a wheat intolerance but the damage would still be happening as gluten is in lots of things.

Transient nausea, reflux, stomach pain, bloating and wind (burps and farts) were my main symptoms along with fatigue and some dizziness. I had no change in bowel habits but lots of my other 'ailments' disappeared once GF.

Is quite hard to gets CD diagnosis.I went to the GP every month for a year and was fobbed off as a hypochondriac, was even told to do Pilates at one point. I'm a HCP, so know the medical lingo but got nowhere, i was seen as an emergency in the end as they were in a major panic. Apparently the average time for diagnosis is 13 years!

If you plan to cut wheat out I would do it now rather at the end of the week as dairy free obviously isn't helping! Make sure you still give other gluten foods - barley, rye, oats, malt etc.

On a side note, lots of coeliacs are lactose intolerant due to the damage to the gut. I felt more sick after a latte after being GF than I did when eating gluten. All went once healed though.

My closet friend has CD. She was diagnosed prior to blood testing being routine, and her biopsy was negative but she had almost immediate relief from eliminating gluten and is super sensitive to it (own toaster at home etc). She also has a second auto-immune condition, they often travel in pairs.

I’d honestly remove gluten and see if it helps. As someone with two autoimmune conditions if the treatment is the same regardless of the formal diagnosis then I’d chose to eliminate the symptoms over confirming a diagnosis.

If I knew they were going to do the biopsy for definite then no I wouldn’t take him off the wheat for the run up, I just don’t know when/if they will. GP says it can’t be ruled out. Is it a gastro paed that makes that call or an auto immune one?(whatever they are called im not sure).

Of course I want him symptom free definitely but I also want to make sure he has the correct diagnosis. His weight isn’t a concern but I out that down to the fact I make sure he has a good diet and his body is obviously doing something right other than the issue with his ferritin ..... would ‘just’ a good intolerance cause an abnormal ANA or low ferritin etc?

It will depend on your local setup as regards the mix of paediatricians you have locally. Where we are there is a visiting gastro paediatrician but no regular one . The gastroenterologist would be the one doing the procedure so it would be their call.
I wouldn't get bogged down by the the speckled ANA as it might be insignificant ... it is possible that it will be repeated at some point eg after 4-6 months.
Low ferritin in children is not terribly unusual and as your son isn't anaemic cannot be very severe although of course it could be related to poor absorption of vital nutrients whatever the cause.
I am sorry I didn't make myself clear above as regards the wheat exclusion. What I meant was that if you exclude it and he doesn't improve then it isn't likely to be coeliac if done properly. Of course it wouldn't differentiate between coeliac and a more straightforward intolerance.
Unfortunately medicine is often a bit like this, a matter of detective work and time. The fact that your son is keeping is weight up is very good for him.

We have a good paediatric hospital not far and Iv never had a problem there, just this paediatrician!

Yes his weight is reassuring, I’m making sure to keep watch on what I’m feeding him to keep him as healthy as possible.

Does anyone know if the Ana comes under ‘full blood count’? Just checking as looking at the blood form it just says fbc and then it says ue and lft on it?

ANA is a marker in the blood that when raised can be an indicator of certain autoimmune conditions and is not diagnostic Of such: more a part of a puzzle. It takes a while to come back and is not part of the FBC.
The FBC measures numbers and shapes of the blood cells ie red cells/ various white cells/ platelets and the concentration of haemoglobin