Testing for coeliacs in children

[Boxofbugs]

Does anyone here know about genetic testing for coeliacs disease? My DD had terrible symptoms, coeliacs runs in the family, but aged two her blood showed no antibodies. I excluded gluten despite the negative result and she was much better. Recently she is worse again and I want to see whether its def coeliacs or something else but I can't face putting on a full gluten diet again.

What I'm trying to ascertain is where you can get the genetic test (I'm willing to pay) and how reliable it is.

Hi

I've heard of genetic testing and would like the same for my DD. Tested positive bloods, inconclusive biopsy so am faced with 6 months gluten challenge! Its horrendous and I don't even want to start as it normally makes her poorly.

Sorry can't help, but I'll stick around for any info too!

My son is on a full gluten and dairy free diet and there are lots of things that can be eaten.
Have you been offered a gut biopsy? A gut biopsy is the only sure way of knowing if it is definitely coeliac and not a wheat allergy (allergy and coeliac are two different things as coeliac is an intolerance, not an allergy).
Your child will need to be on a normal diet for several months in order for the gut biopsy to be fully accurate.
Even without a biopsy you can be pretty sure if somebody has coeliac by excluding all gluten products for a couple of months. The symptoms will go away and the person will be healthier. You need to be very careful that you exclude all gluten fully including things like vinegar on your chips as some people are affected by even tiny amounts of gluten.
Ge some tips from the family members who have coeliac.

I was offered the biopsy but can't face putting her back on gluten for weeks beforehand. One small bread roll has her vomiting so I don't think it's viable to have the biopsy.

My DD had the biopsy etc and nothing showed up but she is back onto a gluten and wheat free diet anyway because her symptoms go and she is much healthier. Doctor says may get different result in the future or may be intolerance. I don't want to put her through having to eat normal diet again.

You can test for the coeliac gene. A positive result does not mean that you have coeliac disease, just that you carry the coeliac gene, not everyone will go on to develop coeliac disease. A negative means you do not have, and will not ever have, coeliac disease. So the genetic test cannot give you a definite yes, but it could give you a definite no.
NHS will do the genetic test as part of their coeliac testing, but as far as I'm aware this is usually only after positive antibody blood tests.
If you can't convince an NHS doctor to carry it out it should be relatively straightforward to get it done privately.

Some testing is available from here:
www.advancenutrition.co.uk/site/shop

Out of curiosity, if you know that even a small bread roll makes you dd very ill and that there is a family history of coeliac disease then why are you so reluctant to take the plunge and go totally gluten free?
I do understand that its a big lifestyle change as I had to do it with my own child (gluten and dairy), but it really does get quite easy once you are used to it and your child's health and comfort is worth the sacrifice.

No rude - we are on a gluten free diet. It's just that recently she has seemed ill again recently and I fear her school aren't being as rigorous as they need be. I formal diagnosis would help with the school but would also put my mind at rest that there isn't another cause for her problems that we are missing.

Ok, that makes sense. Have you considered packed lunches? My sons school have told me that the LA catering dept are not willing to take the risk of providing school dinners for my son as although they can provide gluten and dairy free meals the risk of cross contamination or error is too high.
We provide a variety of hot and cold packed lunches (food flask for hot stews, soup and GF pasta dishes).
It really is vital that a coeliac diet is well controlled (as I'm sure you are aware). not everyone in a school catering diet might be as GF knowledge savvy as others. It's the little things like vinegar, baking powder, thickeners etc that often slip through the net as well as not preparing things in a separate area.
School dinners and snacks are very risky for a child with a food allergy / intolerance. Schools should be able to cater for all dietary needs, but there will be a level of risk involved.

See how it goes over Christmas when you can fully control everything that you dd eats. If her symptoms improve during that period then you probably have your answer.

I have an appointment tomorrow with GP to ask for a second opinion regarding my DD (positive blood/inconclusive biopsy). Not sure how long this will take though?

She has been gluten light for 2 weeks since biopsy and is so much better, the thought of SIX MONTHS on gluten full diet is beyond belief (and doesnt even guarantee a positive biopsy anyway). At the moment we are waiting until after xmas.

Charmingbaker - when DD first had 4 month wait for biopsy I rang BUPA to see if we could pay privately but they didnt treat children that young (she has just turned 8) Im wondering whether they would do the genetic blood test though?

Wondered if someone could advise on HOW POSITIVE their childs biopsy was e.g. how much damage?

DD intestines showed minimal, microscopic "changes", which consultant decided was not enough for formal diagnosis of celiac.

Carla- Both my boys are coeliac, DS2 was diagnosed on bloods alone (ttg levels >100 and lots of classic coeliac symptoms) DS1 needed a biopsy as his ttg levels were not high enough for him to be diagnosed on bloods alone ( I think his ttg was 27 and it had to be over 30 for diagnosis).

Boxofbugs - I really sympathise with your situation. It's so difficult to be sure no gluten is creeping in.
The advantage of diagnosis is the regular blood tests. Interestingly my DS1 has frequently been poorly, he is now diagnosed asthmatic and his thyroid function is being closely monitored, yet his coeliac blood results have been excellent. DS2 seems fit as a fiddle yet his coeliac results are concerning the doctors. Any form of diluted squash upsets his tummy and we've cut out codex wheat, we'll find out soon if this improves his blood results.
What I've realised with my DC is that you can't rely just on how they appear to know how healthy their gut is.
However, I was lucky, I was able to get my DCs diagnosed relatively easily.

Thanks Charmingbaker - my daughters blood tests were very high as well - ttg over 100 but still no diagnosis! Very frustrating

Carla - have you tried contacting Coeliac UK (they have a helpline number on their website). They may be able to advise if those results would normally mean a diagnosis. Alternatively you could ask your GP to refer you to a different hospital.

Hi

I will give them a call tomorrow. The only problem with referral is the time it will take - I wouldn't know wether to keep DD on gluten or not in the meantime.

I have left a message for her original consultant to call me back (we saw initial consultant at local hospital but were then referred to a children's hospital for the biopsy whereby the second consultant has made the "non-diagnosis). Waiting to see if he calls back

Charming baker - thanks for all of the advice so far!

Hi everyone quick update / had a call from my daughters consultant this morning.

EMA test has come back positive and so has TTG (2nd test) however the TTG was originally over 100 (hospital letter said 579!!!!!!!) and is now 64

Consultant said that DD cannot be diagnosed by bloods alone as TTG needs to be more than ten times upper limit for this, together with an almost negative biopsy.

Reiterated that it's back on gluten for 5/6 months in order to try and get a conclusive biopsy. He also said my DD is a rare case (in that the expected gut damage simply sing there) and if the next biopsy shows no change, there will be no diagnosis of celiac disease

Charming baker - I spoke to celiac uk this morning who were very helpful and agreed that TTG over 200 is sometimes used as diagnosis in children, but of course that has now gone down to 64.

Perplexing!

DS1 and DS2 have had the gene test. Their paediatrician ordered it and it was done on the NHS at our local hospital (a blood test).

I think it's called HLA-typing and it tests for the presence of the DQ2/DQ8 genes which are the 'coeliac' genes.

As someone else said, having the genes doesn't mean you have or will develop coeliac. However, not having them means you don't and won't have it.

We have a similar situation with DS2. His elder brother is a full-blown coeliac - sky high bloods/major damage to villi on endoscopy. DS2 began showing the same symptoms that DS1 had started with (bloating, tummy pains, anaemia, etc. etc.) However, his blood test and endoscopy were negative/inconclusive.

But his symptoms went away on a g-f diet and he has the DQ2 gene. So we are treating him as coeliac and he is totally gluten-free. When he is older we will do a gluten challenge and re-test.