Coeliac Gene - help needed?

I have suffered for years with gluten/wheat intolerance but never came up positive with the Coeliac antibody test. I don't have the "standard" Coeliac symptoms of diarrhoea and weight loss, I'm more the other way plus weight gain but I do get stomach distention and sickness etc.

I was referred to a consultant at our local hospital and all he seemed to be bothered about was whether I had diarrhoea or not. I've worked with others who have auto immune disease and allergies for a few years now so I do have a a bit of experience myself and although I'm not an expert, I feel I've more knowledge than a lay person!.

The consultant told me that the only way I could be tested to see if I was Coeliac was (and as you all probably know) to eat gluten for 6-weeks and have an endoscopy.

I reminded him that I had come up negative for the antibody test and asked that if my endoscopy came back negative what would that mean. He told me that they would just class me as having IBS!!!! I told him that what he was saying was equivalent to stating that I had cancer but that he didn't know what kind!! (sorry, I know for some that analogy might be a step too far but it's the only one I could come back with as I felt so incensed!).

I did ask about non Coeliac gluten sensitivity and I even showed him an article I'd brought along with me about it but he totally poo pooed it!

I broke into tears when I left the hospital - I've not eaten wheat since 2001 and gluten since 2011 and I couldn't bear to go back to eating something which would make me very very sick! I have a son aged 7, a husband, a business and a life for goodness sake!

I rang my nutritionist and asked her if there was any other option - she said that I could have the Coeliac Gene test but I would have to pay for it. At least it might confirm a few things for me without having the endoscopy.

I tested positive for the gene and due to the fact that my 7 year old has been presenting the same symptoms as me for nearly a year now and in fact, he's had problems with wheat/gluten for 2-3 years we also had him tested and he came up positive for the Coeliac gene.

Thing is, my father in law is a scientist and my sister in law is a doctor and they think that me and my husband are talking rubbish when we say we're taking gluten/wheat out of our son's diet.

My father in law trawled the internet for a few hours for scientific papers disproving the links between the Coeliac gene and Coeliac disease. We had a huge row about it at the weekend before he did this but now he's done a bit of research and probably talked to my sister in law (the doctor) he thinks he knows everything about the condition.

What kills me is that he has no idea what it is like to live with something like this and especially when neither myself or our son has been "Medically" diagnosed.

I know that we could possibly have Non-Coeliac gluten intolerance or I could just have misdiagnosed Coeliac disease but I have the gene so what the hell does that mean - I need to know what you guys out there think? What have you come across? Is there research proving the gene link to Coeliac disease and if so where can I find it? What does it mean for my son - he's having symptoms at this age so does that mean the chances of him developing it are higher or could he already have it but that it's undiagnosed?

It seems that the testing regime for Coeliac disease is so narrow that they are missing out loads of us anyway!

Do I have to go through the endoscopy after all - I mean, I'm not eating gluten or wheat but in order for people to take my son seriously maybe I need to have it?

I've also been told by the school dinner provider Chartwells that I will need a letter from my GP in order for them to provide a gluten free lunch as he has hot dinners at the moment! The GP isn't that good either - I had to really push just to get a referral to a consultant so she's highly unlikely to send a letter when it's not been "medically proven"

Our son is already eating a low gluten diet at home as we don't eat any here at all - the only place he eats gluten really is at school.

If anyone has got any research they can point me to so that I can prove to these disbelievers that there is more to this condition than what is currently medically available to prove!!!

Sorry for the long post but I feel really desperate about this!

Thanks

Liz

11 Replies

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  • Hi Liz,

    I have non-coeliac gluten sensitivity (NCGS), and luckily the consultant that I've been seeing seems a bit more open to this idea than yours. The only test for NCGS is elimination and challenge... which I did while under his care.

    In your position I would push for NCGS to be recorded as a diagnosis rather than IBS - which is a dustbin diagnosis that allows them to blame every stomch problem on your IBS (that is if you decide not to have the endoscopy or the endoscopy is negative). Actually, I don't know what, if anything, is recorded about me. :-o

    Personally, I think that NCGS is caused by gluten damaging the gut and the immune response to that. I generate antibodies to gluten which showed up in a privately ordered stool test, and these were really high (90th percentile). However, the immune response doesn't have to involve antibodies (the innate immune system will show up in response to gut damage whether or not antibodies do). This is how gluten causes inflammation, but the gut is pretty good at healing itself and so the damage won't show up in an endoscopy.

    In some people they go on to develop coeliac disease, which means they have autoimmunity AS WELL. The autoimmunity prevents the gut from healing properly when the damage occurs - I think the antibodies are directed at an enzyme involved in gut tissue repair - and so the damage is much, much worse.

    celiaccentral.org/non-celia...

    Since you have this problem and your son is already showing some sensitivity, it's worth getting him properly checked. They can do the blood tests at least - I think they do a wider range of blood tests on children, so that they don't always need an endoscopy to diagnose.

    Hopefully the consultant that your son has been referred to may be able to work this one through with you, and then provide any necessary letters about school dinners. If you're going down this route, then it wouldn't make sense to take gluten totally out of his diet before you have worked things through with the consultant.

    All the best, poing

  • Hi Liz

    Sorry to hear you are having such a difficult time.

    One of the many problems with coeliac disease is that you can apparently carry the gene(s) but not go on to develop the disease. The site PubMed has probably the most reviews of scientific research if you need to find information. This is one book with some general info, which I hope may be of some help.

    ncbi.nlm.nih.gov/books/NBK1...

    Like you I did not have diarrhoea or weight loss. I was overweight, bloated and constantly hungry.

    Good luck Liz.

  • The genetic marker predisposes the body to damage done by gluten. While you may not develop Celiac Disease (one manifestation of gluten sensitivity), you may develop other problems such as Dermatitis Herpetiformis , a gluten related skin disease, or the gluten may attack your brain, major organs or autoimmune system. The gluten can weaken your systems and make your body vulnerable to other problems such as cancer. My body was bloated, overweight and I had Diarrhoea. I was told it's because your body thinks you are starving to death and packs the weight on to make up for the nutrients your body can no longer absorb due to gut damage from wheat. Having the genetic marker is a HUGE red flag... gluten can be doing irreparable damage and you don't even know it. Read anything by Dr. Rodney Ford of NZ or Dr. Peter Osborne of Texas USA.

  • Thank you for the information Liana. I am definitely looking forward to a gluten free world!

  • Liz - I am not sure what I am in as much as no doctor has said that I have NCGS except my GP has said that I should avoid gluten, acknowledges my other sensitivities and referred me to a dietician. There was never any suggestion that I should be referred to a consultant and I am not sure why I would need to see one. I was only 'diagnosed' (I use this term carefully now) last November/December and improved very quickly once I stopped eating gluten. But my daughter has been having problems for several years, had various tests and her GP has said she has IBS even though she told him about my diagnosis. She has vitamin K deficiency too. I don't think that I have IBS. I did get diarrhoea, GERD, cramps and weight gain. I recently discovered bloating and think that I have had this for some time but I attributed this to weight gain. My daughter feels satisfied with her diagnosis and has medication but I can't help wondering if she has gluten sensitivity. She has not been referred to a consultant despite having some very bad symptoms. I also think that there may some problems with referrals to specialists now under the new Clinical Commissioning Groups especially for conditions like IBS and NCGS.

  • This is another link about the coeliac gene. ncbi.nlm.nih.gov/pubmed/159...

  • lizallan... I don't think IBS and gluten sensitivity syndrome are different problems. They may be different illnesses or disease created or caused by the same problem. There is research currently being conducted that would link many illness with the autonomic nervous system (IBS, Fibromyalgia, Costochondritis, Migraines to name a few) Dr. Rodney Ford of NZ (eminent gluten expert) suggests a link between the autonomic nervous system and gluten intolerance. If this research turns out as I think it will, the medical community will discover that IBS is caused by a severe dysfunction of the autonomic nervous system created by the body's reaction to the genetic predisposition to gluten sensitivity. Complex, but probable. The treatment for everything is the same ...don't eat gluten! So I just go with that ...I've been DNA tested and have the genetic marker and declined the tests. I have all the symptoms for Celiac Disease and already have IBS, GERD, FM, arthritis, thyroid disease etc etc... I just don't eat gluten any more. My body; my choice

  • Hi Liz, you sound to be having a really tough time.

    NCGS refers to a reaction to one of the other 3 glutenin protein subunits. CD only tests for a reation to one subunit. There is a new blood test available in the states and being launched here later in the summer that should test for all reactions - your nutritionist may well know about it or google Dr Tom O'Bryan as I can't remember details right now. I have no idea about the cost but you should be able to find people on the US celiac society forum or other US-based NCGS forums who have used the test by now to get some feedback before committing. As with all blood tests you need to have been eating gluten for 6 weeks for antibodies to be present - and that may be something you choose not to do. However, if you have been eating gluten and have developed villi damage, an endoscopy should demonstrate visible results even if you are not coeliac but have another form of NCGS.

    Sorry this is a bit rushed but I hope it gives you a bit more info.

    Kate

  • Thanks to everyone for your responses, they are very much appreciated.

    I am determined to find out as much information about this as I can.

    When you don't know what the question is then how do you know what or who to ask but my main question to the consultants is "Can you have the genetic CD marker and have Non Coeliac Gluten Sensitivity" and if so how can that happen? Surely you can't have the genetic marker and just be sensitive to gluten? A friend of mine pointed out that there only used to be one type of Diabetes, Type 1 and now there is Type 2 which is quite different.

    Maybe, and only maybe there is more than one type of Coeliac Disease - I might be totally speaking out of term here by the way as I have no idea about that - no findings whatsover but it makes me WANT to find this out as this relates both to me and my son - I know that not eating gluten/wheat makes me feel better but what about my 7 year old boy - should I just remove gluten/wheat from his diet - as I mentioned above, I've already had an argument with his grandad who thinks that a couple of hours research means that he is totally au-fait with CD and NCDS and think that being positive for the gene is nothing to do with CD and means that him having it means he won't get CD in future!

    Since I don't know what I actually have though means that I can't fight for them to take my son seriously and it's very very frustrating still!

    Liz

  • Hi Liz.

    I was referred for endoscopy following severe iron deficiency. No specific bowel problems really, minor bloating after eating gluten based products.

    My results showed increased intraepithelial lymphocyte activity which is indicative although not diagnostic of coeliac.

    My bloods are negative

    I have however removed gluten from my diet with the consultants approval and no bloating now but significantly, my iron levels have dramatically improved without supplementation which is another indicator.

    I have hypothyroidism and pernicious anaemia to boot lol.

    My consultant says he is studying the different grades of coeliac because he believes that it's not as simple as just showing positive on the bloods. I think I'm lucky to have him given the problems that some of you guys face.

    E,x

  • I would like to add to this post if I may. 20 years of terrible tummy and toilet issues. Brain fog, mouth ulcers, aching joints, depression, lethargy....and the list goes on. Diagnosed with IBS, gallstones (gall bladder removal) diverticulitis, hiatus hernia!!!!! Normal blood tests, normal endoscopy, no genetically. 5 years ago gluten free no problems with any of it eversince....mmmmmh I know I am NCGS but the medical profession a 'crock of shit' i'm afraid to say.

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