Gene Test + Family History + Symptoms + Uncooperative Doctors

[PattyBoots]

I had the gene test done and came back DQ2 Homozygous.

Alleles detected:

DQ2.5 (HLA DQA1*05:DQB1*0201)

and

DQ2.2 (HLA DQA1*0201:DQB1*0202)

From my rudimentary genetics classes in the 80s, along with the Wiki entries, that in and of itself is pretty damning.

My teeth are horrendous. My mother, her mother, and her mother before her all had lost all their teeth by Age 18. Mom had 5 miscarriages in 3 years. My grandmother dropped out of high school due to eczema.

My mother was always painfully thin (never more than 100 lbs. at 5'5") and was diagnosed in the 1960s with ulcerative colits. She underwent a total proctocolectomy and ileostomy in 1971 at the age of 31, eventually getting a Koch pouch at Cleveland Clinic in the 80s. But she was still always sick and weak and depressed.

Until the last couple of years, I felt pretty good. I've had issues with eczema and undiagnosed rashes, which looking back very well may have been DH. I had a thyroid issue which I couldn't get a doctor to diagnose so I went to a local health fair and got my blood drawn. I took the results to an endo, who went, yeah, you've got a problem; here's some Levoxyl, come back next year. But, here lately, I hardly have the energy to walk across the room. I have vertigo so bad I can't drive. I wake up exhausted. I don't so much as have the D, but I go a lot. I used to only go every 2-3 days, now it's 2, 3, 4 times a day and whenever I go anywhere I immediately identify where the bathroom is "just in case" because it can be urgent. (Sorry if TMI!) I have to remind myself to unclench my teeth constantly because I seem to be on tinterhooks all the time. I've gone from a very tight Size 20 (eek) jean to a loose 16 in just about 3 months. People who don't really know me and see me once or twice a month are commenting on the weight loss.

I asked my GYN for a celiac panel, expecting him to cooperate since he trained in Canada. Ha. He's all, "you need a colonoscopy". I am petrified of gastro doctors after watching what hell my mother went through for 40 years. I would jump off a bridge before I'd sh*t through a hole in my side. If it works for you, I'm happy for you, but there is no way in hell.

Anyway, with celiac being the "disease du jour" doctors just won't listen. But I don't think I'm crazy to think that I could very possibly be celiac.

Opinions, please? (And sorry for the length )

[ravenwoodglass]

Just because you go to a gastro doesn't mean you are going to have the same outcome as your Mom. I would go to the gastro or your regular doctor, bring the gene test results with you and tell them you want a celiac panel done. The scope that is done to look for celiac is an endoscopy, they go through your mouth and it is a simple test done with you asleep. If your fear of the gastro is to severe to even think of that option and your regular doctor refuses to do a celiac panel, which does have a fairly high rate of false negatives, you do have the option of trying the diet strictly for a few months and seeing if it helps. With your gene results and resolution of your symptoms gluten free that would be diagnostic.

[Skylark]

Bring in your genetic results and push hard. In Canada you can also get a Biocard test kit for $50. Open Original Shared Link As Raven pointed out, as well as a celiac blood panel the correct test is an endoscopy with multiple biopsies to look for villous damage.

You could almost just ignore the docs and go gluten-free based on your genetic tests alone. DQ2.2/DQ2.5 means your body is likely not fond of wheat even if you're not far enough in the celiac process to get a lot of positive test results.

[PattyBoots]

I was hoping that my GYN having trained in Canada would make him be more open/sympathetic to ordering the panel. I'm 46 years old, so I suspect I'm probably a good way along the way to ruinous damage if I do have the disease.

I forgot to mention a few things - I also have scalp lesions and neuropathy. The neuropathy pretty much came on suddenly a few weeks ago (other than what I call "firefeet" due to early menopause). The neuropathy has improved due to 5000 units of sublingual B-12 daily for the past week and a half. My mother ate gabapentin (Neurontin) like candy the last few years of her life due to neuropathy. They told her she had "narrowing of the spine". Also, mom, grandmother and great-grandmother had "huge knuckle" arthritis. Their hands looked like something out of a horror movie and that petrifies me, too.

I'm self-employed and self-insure and as such have a $7,500.00 per person deductible. I've been reluctant to have any tests due to the whole pre-existing condition. I know that's not an issue now, but if some people get their way, it will be again.

Bring in your genetic results and push hard. In Canada you can also get a Biocard test kit for $50. Open Original Shared Link As Raven pointed out, as well as a celiac blood panel the correct test is an endoscopy with multiple biopsies to look for villous damage.

You could almost just ignore the docs and go gluten-free based on your genetic tests alone. DQ2.2/DQ2.5 means your body is likely not fond of wheat even if you're not far enough in the celiac process to get a lot of positive test results.

[Jestgar]

Then why get the test at all? Just change your diet.

[Skylark]

I was thinking the same thing as Jestgar. I never got formally tested and I have many, many celiac symptoms and they go back three generations. Gluten makes me sick; I don't eat things that make me sick.

[cassP]

you're not crazy at all to think you could have a problem with gluten. its very frustrating that we sometimes have to "convince" our doctors to test for it... when it really should just be a routine test when anyone has these physical symptoms.

like everyone said above- you have more than enough proof to do the diet yourself. if you want a dx or validation from a doc (like i wanted)- then change docs till you find one you like.. or again, like said above- bring in your genetics test and list of symptoms and tell them you want a complete celiac panel run.

[gf-soph]

It sounds like regardless of any testing decisions, with your family history and your current symptoms you would want to go gluten free for at least 6 months. Once the neuro symtoms come in to it you want to give your body plenty of time to heal. It's good that the B12 is helping, but be on the look out for other possible deficiencies as well, they are pretty common for us.

Is it possible that the gasto recommended a colonoscopy to look for ulcerative colitis, given your mother's diagnosis? If you're reluctant to get that testing or don't want the diagnosis for financial reasons, you could go gluten free and see if that resolves your symptoms, and get tested for other conditions down the track if you don't feel better? It sucks that you are in that sort of position, but a lot of people here are self diagnosed so you certainly aren't alone.

[cassP]

ps- might not be a bad idea too- to go ahead and get the colonoscopy- just to rule out anything else, plus undiagnosed celiac can cause issues in the colon as well-

i had one done when i first saw my gastro- and i am GLAD i did- cause its a relief to not let your imagination run wild with all the possibilities down there... plus- if there's any polyps (benign or other)- they remove them right there!

[txplowgirl]

Hi Pattyboots,

I have a bad family history of cancers as well as autoimmune disorders and I had been so sick for so long that I thought I had cancer of some kind. At the age of 45 I was finally dx'd with fibromyalgia and rheumatoid arthritis. I still was sick but thought I had things figured out. But, the meds wouldn't work for me, made me worse. After more research found out that 75% of fibro sufferers have gluten problems. When I found Celiac.com and read all the posts I cried for a long time. I finally found the reason why I was so messed up. After reading that a lot of the times the tests can come back negative I went gluten free on my own also I didn't have insurance at the time. Within 6 weeks the lesions on my scalp had gone away. They had been there for over 20 years and no meds helped at all. I changed my shampoo and conditioner and gluten free made it go away. The large knuckles on your family members could possibly be rheumatoid arthritis which is an autoimmune disorder.

My teeth have always been messed up, my mother got dentures when she was 25 and my 27 year old son has a partial bridge because his teeth went bad by the time he was 18. I have had 7 miscarriages and my only child was born 2 months premature. As well as a lot of other problems ranging from anxiety, depression and nueropathy.

We do not need a dr's permission to go gluten free and I had been mistreated so many times, being told it was all in my head to being a hypochondriac wanting to get attention. I said to hell with it.

I can guarantee you a year from now you will feel so much better you will not believe it. Hang in there.

Vicky

[nora-n]

... - I also have scalp lesions and neuropathy. The neuropathy pretty much came on suddenly a few weeks ago....

Have you heard of DH, Dermatitis Herpetiformis, the skin version of celiac?

If you have skin next to it biopsied, and a diagnosis, you need to go gluten free anyway, and be very diligently gluten free. DH patients are even more sensitive to gluten than ordinary celiacs.

Neuropathy can come from gluten

[PattyBoots]

I'm reasonably certain I've had outbreaks of DH. Several years ago I had an awful, suppurating rash all across my stomach and down my arms, and another time on my sternum. I went to the derm, who looked at it and said, "Oooh. Nasty rash. Bet it itches." My reply was, "Uh huh. What is it?" He literally shrugged his shoulders and said, "I dunno. Here's some cream. I doubt it'll help, but you can try it." He even had a couple colleagues come in and look. They were all dumbfounded. So I tried the cream, and of course it didn't work, so I went to the other derm in town. He called it eczema and that it was probably stress-related. At the time I was caring for my mother, who was wheelchair bound due to having lost a leg to bone cancer AND my dad, who was dying of lung cancer, so it made sense. When I would sweat, oh, how it would burn. And now, after seeing pics on the 'Net, I can guess that's probably what it was. It finally went away after about a year, but that year was miserable.

It's probably a good thing Mom's gone, because I don't see her accepting this at all. I can hear her now, "That's the stupidest damn thing I've ever heard of!" and roll her eyes. And head to the kitchen for a cookie.

Thanks all, for the help.

[nora-n]

You can read about celiac and DH at Open Original Shared Link if you are bored and want to read some more...

Anyway, DH=celiac so you must go gluten free, diagnosis or not.

A DH diagnosis is enough.