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.

Receptionist won’t give me the figures so hopefully GP will ring tomorrow.....

Would the ANA be abnormal though without symptoms? I know in some people it can be abnormal without anything being ‘wrong’ but if he has symptoms does it not indicate there is a problem? The paediatrician is Gaston I believe......

I think best to talk to the GP. I’m not sure that gastric issues you describe are typical symptoms of the autoimmune conditions indicated by a high ANA but I really think expert advice is required. You should ask the GP if a rheumatologist referral would be appropriate

He'd need to keep eating gluten if he is to have a biopsy for Coeliac

Have you heard of Small Intestinal Bacterial Overgrowth (SIBO)? It causes diarrhea (and sometimes constipation) among other problems, and can also cause iron deficiency (along with B12 and D deficiencies). It can also be caused by hypermobility. It can only be tested for by a breath test, and treated by specific anti-biotics if positive. It would be good to even get it ruled out, in my opinion

The paed mentioned a breath test but was so vague. Didn’t tell me what it was or if he should have t, just said he would have to be at the hospital for half a day then changed the subject!! Reading about it afterwards I don’t think ds would cooperate with it.

Sounds like it could be what the paed was talking about. The test isn't a big deal, just a lot of hanging about and you blow into a tube about every 10 or 15 mins. You can also buy them privately to do at home, you blow into about 10 different bags over a few hrs, and send them to the lab. It's about £150, but tests for both types of SIBO whereas NHS usually just tests for one

up would the Ana be abnormal if it was that?

It doesn't sound like coeliac disease if the blood test was negative. Yes a biopsy confirms it but they tend to only do biopsy of the blood test is positive. I don't think you'd get a positive endoscopy with negative bloods.

If you wanted you could ask for the genetic blood test to see if he has the gene for coeliac disease. A negative for this would mean for sure he can't have it, a positive doesn't mean he does have it.

But if you got a negative it saves the trauma of an endoscopy.

Eds causes hyper mobility and sometimes affects the gut, hard to diagnose (took my DD's friend 4 years to get a formal diagnosis despite me suggesting that was the diagnosis when i first knew her), essential the gut is pushing food through too quickly so not as much water or nutrients are being absorbed. She takes some sort of supplement to help her.

Looking on the nhs website he doesn’t have any of the symptoms of EDS other than the hyper mobility though? Plus why would he suddenly start having such severe diarrhoea, wouldn’t that come on as apposed to out of nowhere?

The GP is supposedly ringing me back today to give me the results that I can write down, however I’m not holding my breath. What am I asking for exactly?

He will not do 3 months of these exclusion diets I know he won’t. Dairy free is hard enough for him although not for me as he doesn’t have a great deal but no wheat for a month and then no fructose for a month is going to be almost impossible. When he goes back to school they won’t be able to enforce it either and the meals come with the placement so you don’t take packed lunch so no idea how I will cope with that either. If he had an intolerance of course that would be different but doing it ‘just in case’ i really don’t know how. He’s hard work as it is on a daily basis with his autism and anxiety

I don’t think it’s doing it “just in case”. It’s to eliminate different kinds of issues. On the ANA, ask the GP if it is significantly elevated, but at a layman’s guess 1:120 would certainly be a cause for further investigation, 1:60 at his age (tends to appear in older people) might be significant, or not. Can I be honest? It sounds slightly as if you would prefer him to have an AI condition but the thing is, nothing like this has a simple solution... If it is difficult to get him to do the food exclusion then ask for support (eg play therapy, specialist dietitian referral). School will need to support you under law in helping him to do what the doctor has recommended. I’m sorry you are experiencing this, and you are allowed to ask if there is any other way of approaching a diagnosis that meets his specific additional needs, but an autoimmune diagnosis doesn’t solve anything

Of course I don’t want him to have an Auto immune disease, what an odd thing to say. I don’t want him to be ill full stop! Iv just had more than my fair share of misdiagnosis with him throughout the whole autism process and I do not want to be fobbed off. As I said, the paediatrician wasn’t remotely interested in us and he barely looked up from his computer when we were there. All that wish you washy talk about a breath test. He didn’t tell me what it was, if we should have one, at what point to have one etc etc and just sent me out the door saying ‘see you in a year’. IF there was something wrong with him I want to make sure it is not missed. I have no experience with auto immune issues as you know from all my questions. I want to make sure it’s ruled out properly not just assuming he has an intolerance just because he had one as a young baby. Before these bloods came back, I was quite happy to do exclusion and accept an intolerance (ds won’t but that’s another matter) but I am obviously and understandably concerned due to the lack of care he had in the past. If a breath test is a good idea, I want one booked in to stop delaying anything that may have been missed, but as I said, he just left it at that.

*all that wishy washy talk about a breath test

My DD had this when she was little - explosive diarrhoea - her older siblings used to call it her motorbike noises!

She had a barium enema which showed a distended bowel that was thought to be due to a food intolerance. Consultant said to cut things out and see what happened - we started with no egg - bingo, problem disappeared!

It continued for several years, then she grew out of it. We would trial small amounts of egg every now and again, with the same result. And then it stopped gradually.

Just wanted to echo an earlier poster regarding coeliac disease. A diagnosis is confirmed by a biopsy but this is only when you've had positive bloods. I'd be amazed if negative bloods then yielded a positive biopsy.

Why did gp suggest coealics if that is the case though? I can’t get hold of paed secretary, she seems to work very part time hours. She isn’t in until next week now. Does a breath test diagnose a lactose intolerance, can the results differentiate between a lactose intolerance and the SIBO? SIBO looks quite simple to fix!

I can’t see any relation to what he is eating to how many times he’s on the toilet. I cook probably 90% of what he eats. He says he doesn’t feel any different straight after eating. I have an issue with potato, so I don’t often eat it but when I do and have say 2 small roast potatoes or a jacket potato I have a crippling stomach ache within 5 minutes of eating it. I know everyone is different though.

He has been 3 times this morning and he’s only been up 2 hours. It’s not just the fact it dominates everything, he doesn’t want to go out which I understand but I have other dc plus straying in too much affects his anxiety when we do go out. Then there’s the clean up. He has a lot of problems with motor skills which OT are working on but he gets the poo every where and I’m constantly cleaning his clothes and the bathroom after him. I’m jot moaning about that, I’ll do anything for my dc of course, it’s just not a case of needing the loo all the time. It’s really affecting him mentally as we are now 8 months of this

Why did gp suggest coealics if that is the case though

Quite possibly because they haven't got a clue? Obviously some GPs are more clued up. Dd's was useless about the diagnosis proceedure. Told her she would have a camera up her bottom! I did tell him I was fairly sure they went in from the other end. he was adamant he was right (he wasn't).

Oh and he also initially misinterpreted her blood results and told her she didn't have coeliac disease. Thankfully I asked for a print out copy of the results and it was obvious she did.

My son is 12 and has hypermobility with gut issues. Not as bad as your son but he does have occasional bouts of the same thing and often complains of stomach pains and cramps which are relieved by going to the toilet. More problematic is that he gets very little warning of needing to go and when he does he only has seconds to get to a toilet. He gets very anxious about this and panics if he cant identify a nearby toilet when we're out. His paed rhematologist says its because the EDS affects connective tissue in the gut so they stretch more so he is able to build up a lot more before the receptors tell his brain he needs to go.

I'd try and see a paed rhematologist as well, though im not aware of anything they can recommend to help if thats what it is. Ours recommended relaxation techniques and mindfulness excercises, which is no bad thing but doesn't really help with the gut issues.

See the strange thing is opening his bowels doesn’t stop the pain. He’s been 3 times and pain is now worse.

Spoke to gp who said that they can’t rule out coeliac disease as you can get false negatives (who knew!) she also said the result is ana non specific, she wasn’t given a number it is just ‘text’ so that doesn’t help.

It would be very rare to get a false negative, he would have to have a pre-existing antibody deficiency. Possible but not likely which is why I would ask about the genetic blood test before putting him through the trauma of a probably not necessary endoscopy.

I’d never heard of it but then I nothing about auto immune things.

She said that he isn’t anemic but his iron wasn’t tested isn’t that’s a bit odd? His ferritin is right at the bottom of normal.

Are you sure his iron wasn't tested? If they did ferritin it would be very unusual not to do an FBC and get a Hb result.

Yes I specifically asked her. I said is he clinically anemic she said no, mentioned the ferritin I asked what level was his iron and she said it wasn’t tested and it isn’t tested generally only if it’s asked for specifically?