Genetic Test

[SilverSlipper]

My youngest daughter (6 yrs old) has always tested negative for celiac disease. She has numerous digestive problems, mostly chronic stomach aches and diarrhea. Stomach aches are almost daily, diarrhea is a few times a week. At home, we're mostly gluten free, so she doesn't get it often. During school time, she had gluten daily at school. We tried a gluten-free diet, and it seemed to help some - she didn't complain about stomach aches all the time and the diarrhea greatly decreased, but after a few weeks on a gluten-free diet, my oldest daughter started having seizures and I dropped the vigilance in keeping track of my youngest. (My middle daughter has celiac disease).

We have a well child visit next week. Our pediatrician has absolutely no idea what could be the problem. I did take her to an allergist - my co-pay was $370 and they said she had no allergies, no asthma, nothing they could pinpoint. They tested her for many auto-immune disorders which were all negative. (She's a carrier for cystic fibrosis but does not have it). I haven't taken her to a gastro yet.

I'd like to do the genetic test for Celiac but I am not sure how to ask for it. Does it have a name? Do I need to go through a gastro for it?

Other than the chronic stomach problems, she gets dizzy a lot and has muscle tremors in her arms and legs. She seems to cough and choke a lot when eating. I'd love any ideas on where to go. I cringe at telling our pediatrician (again) that there are still problems and this has been ongoing since last Nov/Dec.

And yes, I do doubt myself. It has been suggested by relatives that because our other two have medical conditions, that I am 'creating' a problem with our youngest.

[mushroom]

Hi silverslipper:

May I speak as an outsider looking in? It sounds to me that it is very likely that all of your children have problems with gluten. Have you discovered the source of your oldest daughter's seizures? Did you know that gluten can cause seizure disorder? My baby brother (well, he was no baby then) developed a seizure disorder for which no cause or cure could be found. Anti-seizure medication did not work (these were petit mal-type seizures, not violent ones) and unfortunately he eventually died from seizure-related complications when he was in his late forties. I have a celiac sister, another sister who is in denial, and I have never been tested but have more food intolerances than even I can itemize (apart from the gluten), along with psoriatic arthritis due to failure of my docs to diagnose. Both parents (now deceased) have suspicious histories, and I think we are a celiac family (along with being a melanoma family on the female side).

Yes, your youngest daughter certainly sounds to be gluten intolerant even if she does not test positive for celiac. Asthma/sinus and neurological problems can be caused by gluten.

As for the genetic testing, it does not show whether in fact anyone has the disease, only the predisposition to develop it. And they only test for DQ2 and DQ8, whereas other genes are recognized worldwide as being associated with celiac. Many on this board have celiac disease without either DQ2 or DQ8. The only really interesting part of the genetic testing in the case of celiac is if the whole family is tested and they all carry the same celiac gene, or if both parents carry a celiac or gluten intolerance gene (the latter is tested for by Enterolab). This would guarantee that each child had at least one predisposing gene. Do you or your husband have any history of GI symptoms or autoimmune diseases in your families?

"Family" always have a lot of very unhelpful suggestions to make in diagnosing these problems because they don't live with the problems all day, every day and don't see the effects that gluten has on people (which usually occur after the meal when you have gone home, not while you are all eating) Try not to listen to them and concentrate on the health of your children which only you can safeguard.

I don't know if an appointment with a gastro would help, but it can't hurt at this point. He might be more open-minded and look beyond the negative testing, but there is no guarantee unfortunately. Some of them are even more rigid about scientific testing and results than subjective evidence-based history.

[shayre]

I had genetic tests done for myself and my 2 boys, but with our seperate specialists. Mine also assessed "risk" along with the gene detection. I was really upset when both of my son's genetic test came back. It only showed that they have 1 gene and did not assess risk...with alelles...and all of the more detailed stuff that I don't understand. I don't think that it has a special name, but I'd just ask for the most detailed genetic test for celiac disease that they can...is my best advice. My risk was classified as "very high" and I had both genes for it. My son's both came back with one gene for it, and the doc said that there risk was low...without knowing that answer. I am sure that I've heard many people on here who only have one gene for it! So I would have preferred that their risk be assessed.

[Skylark]

You already have a "genetic test" that is far better than anything a doctor can order. Celiac is hereditary and people with celiac relatives are at greatly elevated risk for celiac. It is not entirely clear that DQ2 and DQ8 are even the correct genes to look at in families where there are neurological problems from gluten. I take it the youngest had a negative celiac workup? If not she needs to eat a full gluten diet for at least a month and be tested.

As Mushroom says, one of the neurologic signs of gluten intolerance can be seizures. The oldest should also have a celiac panel, and be sure they check for anti-gliadin. Sometimes that is the only antibody that comes up in the folks with gluten-caused neuro problems. Once the testing is all done, I would take all three kids gluten free without a second thought. Once you have the gluten-free diet going, you can see if the youngest's stomach trouble improves, and if the oldest stops having seizures.

If the kids aren't doing better, a gluten-free diet doesn't alter any diagnostic tests except the celiac panels. It will be no problem treating the seizures gluten-free.

Absolutely stick to your gut feelings about your children. Every parent wants kids to be well, not to manufacture fake health problems!

[mommida]

Here is a short list of some of the "Celiac" symptoms overlap to other disorders.

H. Ployri

hernia

parasites

congenital defect/ obstruction/ damage trough out GI track

abdominal migraines

Eosinophilic Gastro Disorder

Celiac/ DH/gluten sensitivity

It is possible to have Celiac and Eosinophilic Esophagitus, like my daughter.

So please take your daughter to a ped. gastro. to find out what the proper full diagnoses is.

Genetic testing is NOT really 98% accurate. There is a 30% human error rate for any blood test. Known 2% error/miss detection of genes. (Really if you are in the known 2% error rate the test is 100% inaccurate for you.) Really we just do't know all of the genes involved in Celiac Disease/ DH and gluten sensitivity. Add that to the nuero issues of gluten damage.

[shayre]

Might I also add into researching "gluten ataxia". I don't know a lot about it, but it is a disorder where gluten severly effects the brain and causes lesions. Maybe one of you know more about it?

[SilverSlipper]

Thank you all for your replies. I'm sorry it's taken so long to reply. When I feel completely overwhelmed, I tend to run from thinking about a situation and this one has bothered me quite a bit.

To answer a few questions, my oldest is severely affected by autism and seizures are something that we've always been told to expect. However, her seizures have never been verified by an EEG and she is on no medication for them. Her school is almost frightened by them as she seems to have some 'visual disturbances' and tries to fight an invisible person. She's frightened and has super-human strength during those episodes, even throwing a table once. All of the staff agree that she is not aggressive towards anyone and that she appears very frightened and upset. These have been witnessed by numerous school personnel who were kind enough to write notes for our neuro. They don't happen often, but we never know when they will happen. My daughter is non-verbal with limited comprehension. I'll definitely try gluten-free when her symptoms pop up again and see if it helps. She also has a diagnosis of abdominal migraines.

My middle daughter is the one with Celiac and she has always had it with classic symptoms which led to her diagnosis. She diagnosed easily with both blood and biopsy. Her follow up biopsy a year later showed that she was doing great and healthy on the diet. She still isn't growing much, which is a concern with our gastro. But, she's an over-achiever everywhere else.

My youngest has no medical diagnosis and is average height/weight. We had a good doctor's appointment other than the stomach issues. He suggested we go dairy free to see if that helped matters. He also suggested an endoscopy because she frequently coughs/spits up when she drinks fluids. We always ignored it because she's the youngest and I guess we thought she would grow out of it, but she hasn't. He agreed that at 6 yrs old, she should not have these types of problems with swallowing. My husband's worried that perhaps she has some type of throat abnormality or obstruction that makes it difficult to swallow. (For instance, my dad has a 'shelf' type growth in his throat and needs to drink a lot of liquid when eating or he feels like he's choking). I came home and made an appointment with our gastro to discuss an endoscopy, concerns about celiac and lactose/fructose intolerance testing. Her appointment is next week.

When I told my mother about the appointment, she accused me of having Munchausen's and said that I could kill my youngest by doing an endoscopy because the procedure could involve puncturing parts of her bowel, etc. That, of course, led to an argument and she agreed that she wouldn't speak of it anymore with me but she wanted me to know her feelings on the matter. I, of course, feel horrible and wonder if I'm wrong about having the procedure. Since that time, we've figured out that no milk means that her diarrhea stops, but she still has stomach aches. We're looking into reflux medication helping the stomach aches which (we think) may be working. We don't have an answer for the coughing while drinking.

I'm still going ahead with the gastro appointment and I'm a bit distant with my mom at the moment. I don't discuss the kids with her at all.

Also, I'd like to have a medical diagnosis to help with school lunches, etc. They are great to work with, but they need doctor's notes to make things happen.