Coeliac gene test (HLA-DQ2/8 but NOT 7)

[ForeverBeingFobbedOff]

Calling all coeliac's experts.
My daughter is 5 and has a preliminary diagnosis of "non-IgE mediated allergies to gluten/wheat, cows milk and soya" (in other words, she's intolerant to these foods, but they do actually affect her quite badly, wheat/gluten being the worst).

To give a bit of (very summarised) background: we had a long history of feeding problems (reflux in infancy, difficulty weaning onto solids, severe constipation as a toddler including withholding with "overflow"). NHS doctors prescribed Lactulose/Movicol but looked no further (but were extremely critical of my long-term breastfeeding - this was when my daughter was 2 1/2).
I didn't know much about coeliac's/gluten sensitivity/etc. then but was laughed out the door for even suggesting it as my toddler wasn't underweight (quite the opposite - constipated and consuming lots of breastmilk). Her atrocious sleep and intense emotions were put down to poor parenting.
Anyway, fast forward a year - I tried various things on my own, first I removed dairy from her diet (my first clue was her massive dislike of anything containing cows milk!), which resolved some of the constipation, but when I (perhaps naively - without a coeliac blood test) removed gluten from her diet, she became a different child almost overnight. Her constipation stopped, she slept a whole night for the first time ever (at 3y8m) and she was just much calmer and happier in herself. No-brainer really.
We then paid to see a private gastro paed and private dietician who have been supportive and both issued the above diagnosis.
Now, my question: We had a gene test done which showed that our daughter does not carry the DQ2 and DQ8 genes (alleles? sorry if I'm not getting the terminology spot on) and the gastro paed has discharged us saying she does not have coeliac's for sure.
However, I've since read (on an American coeliacs forum) that, apparently, around 2% of NorthernEuropean confirmed coeliacs carry only the DQ7 gene - so this seems possible albeit rare!
I just can't shake the feeling I might be living with an undiagnosed rare-form coeliac and need to find out where to turn for comprehensive genetic testing. And whether there is a slim chance my hunch might be correct.

Thanks for reading and sorry about the epic post!

[Laselva]

Hi, don't have any answers for you but just wanted to say lots of people manage coeliac / gluten intolerance without an official diagnosis.
Both my DC are diagnosed coeliac but DH, who is clearly coeliac, does not have an official diagnosis. He went GF before he had any tests and is not prepared to consume gluten for the 6 weeks needed prior to testing. Our GP has been really good and he has blood tests every year or 2 to check certain levels (can't remember exactly what but it includes iron, vit D and vit B12).
My DSs also get yearly blood tests and I find testing their iron & vit levels more useful than testing if they gave any gluten in them. I know when they've had gluten, on the rare occasions it happens it makes them very ill and they both do everything they can to avoid it.
Would your GP be willing to do annual blood tests?
I also have a relative ( not related to DH) who now excludes gluten, lactose and soya from his diet. He tested negative to coeliac and doctors weren't really interested. He is now so much better and will continue on his new diet, some family members are sceptical about his 'fad diet' but he gets really ill if he consumes these foods.
I appreciate both my examples are adults making choices for themselves, and I can understand why for your daughter you want an 'answer', but do bear in mind that when it comes to medical problems regarding food, the profession can have a very black and white attitude and many people stop consuming certain foods because it improves their health, not because of a diagnosis.
With regards the breast feeding, it was my youngest DS who was diagnosed first when he was 20months, he had started losing weight fast and when we got his first full bloods back the doctors were surprised he had no deficiencies, the dietician told me it was because I was still breastfeeding, so well done for feeding her for so long, you will undoubtably have helped her digest a much more nutrient rich diet.

[ForeverBeingFobbedOff]

Hi, thank you so much for taking the time to reply! Yes it's of course possible to just get on with it without a diagnosis, but I do think that option is far easier for adults than children. Schools need "proof", other children's parents often need convincing, and I just feel it would make things easier for my child if we had a firm, final diagnosis. Will continue on my quest.

[user1470269632]

I've been on a coeliac diet since I was admitted to hospital for something else. However, almost overnight I an awful lot better as I'd not eaten any gluten for 24 hours. DH came to visit and took a step back, I looked so much better and he commented to a nearby nurse. I've got the same problem as your DH, ForeverBeingFobbedOff. I need to go back to a full on gluten diet before the GP will consider testing me though.
I was rather surprised to note that your DS's and DH have regular blood tests to check theie vitamin and mineral levels. I happen to know that I'm definitely deficient in Calcium, Vitamins D and 12 and iron.
I've been absolutely fine part from a minor hiccup about a year ago when we had a takeaway at a friends. Thinking it had been checked I also ate. However, later I was extremely unwell.
About three weeks ago we were invited over to another friend's house for a Chinese (which turned out to be the same one as before). I forgot about the previous experience and we enjoyed the Chinese. About twenty minutes after eating however, I literally became really unwell. I could literally feel myself drain of colour, whilst at the same time I became hot and cold and extremely clammy. I knew I was going to be extremely ill.
We left quickly and I was extremely unwell half way up the stairs. I continued being very unwell, but unable to eat anything, but trying hard to try everything in the medication cabinet. Nothing worked.
I ended up in hospital a week later as I couldn't keep anything down whatsoever. I was extremely dehydrated, to the point of developing heart problems. I was given four litres of fluids in order to rehydrate me.
I would go as far as to say that I'm still not 100%. My immune system is compromised so recovery always takes me longer, so I'm still recovering.
The hospital suspected either a gluten episode, but when they heard I hadn't been officially diagnosed as allergic to gluten, they changed the diagnosis to gastroenteritis. I find that difficult to believe as everything I'd eaten, everybody else had too. No one else was unwell at all.
IDKAU, but would any of you be inclined to mention this to my doctor? I really can't face six weeks of gluten; I'd be so unwell during and for quite a period of time afterwards.
What do you think?

[notapizzaeater]

It's a nightmare, I thought my son was coeliac, again looked healthy and was average height (but had always been on 95th centile) I ended up refusing to move from the hospital doctor office till they did biopsy. School would not give him a gf diet till we had a doctors letter stating coeliac. He got diagonosed age 7 - took 3 years banging on doctors doors and being told he was ok, likewise he slept through fir the first ever when he's been gf for 3 days ......