Is It Too Late To Do Anything? (Celiac And Probable 22Q.)

[RK22q]

In 2009,at the age of 49,I was diagnosed as celiac.It was part of a series of about thirty blood tests I had,to get some idea of what sort of medical problems I have had all of my life.I have diagnoses of autism,schizotypal personality disorder,and a lot of other stuff,that was consolidated as an adult,into a nonverbal learning disorder.

I also have had a lot of unexplained medical problems.I have had what I now know to be celiac,ever since I was a baby.I did not know the cause of any of these until I had had these tests.The doctor just sort of casually tossed off the fact I had celiac as an aside,and concentrated on what I now know to be secondary stuff.I was found to have all the signs of Open Original Shared Link,including megaloblastic anemia.(I now realize I have had symptoms of anemia since my late teens/early twenties.)This was what the doctor thought I had.I then got on the web,and learned everything I could about this disease.I joined the Google group for organic acidemias,and sent test results to hospitals all over the country,to try to get more help.I eventually learned I had levels that were very high,but nowhere near high enough for a true inborn error of metabolism,but the symptoms and treatment are the same.MTHFR mutations were also found,which may contribute to my problems.He also said I had the lowest vitamin D levels he ever saw.I now know about folate,B12,and vitamin D malabsorption in celiac,and how bad it can get.

A few months ago,I went back to the test results.I had three different COMT polymorphisms,which given my history,could very well be a marker for 22q11.2 deletion syndrome.In addition to the celiac,and all the autism/brain related stuff,I have history of what I now know to be polyarteritis,chronic pneumonia for ten years,and frequent,severe infections well into my thirties.The celiac switched from constipation,to pain,bloating,and toothpaste like BMs,after my first episode of polyarteritis.This was when I was ten years old.I am a male,and I never developed any adult skeletal muscles,or body hair.My bones in my arms,legs,and ribcage are about 1/3 smaller than they should be,but not in length.My body is like that of a 5'6" child.There were problems in sexual development,and puberty,even though my hormone levels are normal.My voice never changed.I suspect this is velopharangeal insufficiency.I had all kinds of tests,and saw all kinds of doctors,for over thirty years,and nobody could figure anything out.Once I learned about 22q,and did some reading about it,it all fell into place.

The only problem is I have yet to be tested for the deletion.My doctor is now convinced this is what I have,but the insurance will not pay for a FISH test.I have offered to pay for the test myself,but the hospital's system is not set up for this.

I tried the whole Gluten-free Casein-free business for almost a year,and nothing improved.In fact,it made my wasting/weight loss even worse.I eventually said the hell with it,it's more trouble than it's worth.

So,now that I've given you some background,let me ask a couple of questions.

1.I know childhood onset celiac has a number of known phenotypes.I do not know what mine is.Are there some that do not respond to diet,or respond poorly to it?Are some of these associated with 22q?

2.If this is not the case,could my small intestine just be too far damaged to respond to diet?

3.Is diet only mentioned because most celiac is spotted early,and doctors don't know what to do in a case like mine?

Any help would be appreciated.

[Skylark]

Hi and welcome. I don't think anyone on the board has ever talked about 22q deletion syndrome. It sounds terrible!

1.I know childhood onset celiac has a number of known phenotypes.I do not know what mine is.Are there some that do not respond to diet,or respond poorly to it?Are some of these associated with 22q?

2.If this is not the case,could my small intestine just be too far damaged to respond to diet?

3.Is diet only mentioned because most celiac is spotted early,and doctors don't know what to do in a case like mine?

1. Most people respond to the diet, though it can take a long time. The longer you go undiagnosed, the more autoimmune damage has been done. We have people older than you are who were celiac all their lives and have recovered some or all of their health.

2. It is unlikely your intestine is too damaged to recover at least partly. There was a study showing it can take 2-5 years to recover from total villous atrophy so you may have been just getting started.

3. Nope. We have folks who have been in and out of hospitals, wheelchair bound, and folks like me sho had major mental illness. The diet stops the autoimmunity and we gradually recover. Celiac is the only autoimmune illness that completely stops with diet. Keep eating gluten and you allow the autoimmunity to continue unchecked.

I'm a little confused about where your doctor has been? If you are diagnosed as celiac and don't respond to the diet, you need follow-up antibody testing. Antibodies have to fall before you can recover and some people need different levels of strictness with the diet. If you were eating processed foods you may have simply been eating too much gluten for your personal tolerance. Some people don't tolerate kitchens with gluten-eaters, pets eating gluten and cause problems, medications can have hidden gluten that will keep you from recovering, etc. It's tricky to get all the stuff out of your life.

There is a rare condition called refractory sprue that can be a consequence of long-term untreated celiac. It is a diganosis of exclusion, when the autoimmune antibodies fall on a gluten-free diet but there is still intestinal damage. That's why you have to go back for testing if the diet doesn't work. It is managed with steroids. You can ask your GI about it, but you will probably be told that the first step is to go back off gluten. Diagnosing refractory sprue is impossible in a person with celiac disease who is eating gluten.

[mushroom]

As Skylark says, diet is the only treatment for celiac disease. In the absence of gluten your body stops making the autoimmune antibodies and healing can then begin to take place, So long as the antibodies are being produced in response to gluten you will continue to suffer some kind of damage to your body. And gluten is found not just in the diet but in personal care products, lip gloss/stick, and it is a good idea to get it out of your hand lotion, hair care products, etc. Prescription meds have to be checked because the FDA does not require pharmaceutical companies to label gluten; OTC medications may or may not label gluten or other allergens.

It took me three years to recover and if I take antibiotics I can fall back into dysbiosis very easily, so I take probiotics and digestive enzymes still because I am still infection-prone.

[Takala]

Wow.

Open Original Shared Link

Autoimmune disease. Polyarticular juvenile rheumatoid arthritis (JRA) occurs in children with the 22q11.2 deletion syndrome at a frequency 20 times that of the general population rate. The age of onset of JRA ranges from 17 months to five years. HLA types permissive for the development of JRA are observed [sullivan et al 1997, Keenan et al 1997]. Other autoimmune disorders associated with 22q11.2 deletion syndrome include: idiopathic thrombocytopenia purpura (ITP), hyperthyroidism (Grave's disease), hypothyroidism, vitiligo, hemolytic anemia, autoimmune neutropenia, aplastic anemia, and celiac disease. ITP is seen 200 times more frequently in individuals with deletion 22q11.2 than in the general population [sullivan et al 1997, Jawad et al 2001, Kawame et al 2001].

Since you are more vulnerable to infections, and celiac s l o w l y destroys the lining of the intestine, the long term outlook would not be pretty if you keep saying "to hell with it." The intestines are full of bacteria, looking for something to do. The subsequent malnutrition can cause bone loss (you don't need that, and if your c spine is already screwed up, it's excrutiating), kidney problems, (been there, done that, got the T-shirt) thyroid problems (there goes the neighborhood... ) and horrid gastro reflux. All of which will not be insignificant, and will add further misery.

1. Celiac is an overreaction to wheat family proteins, which are very complex and hard to digest for most animals. If you were diagnosed, you probably had specific antibodies to gluten showing up. Remove the wheat proteins, the reaction stops. Nothing there to attack anymore.

2. Could your small intestine be too far gone to respond to diet ? Probably not. I was in my mid forties when I stopped eating grains (now going into in my ninth year of wheatless) and although it did not "cure" the other stuff, it did at least stop the ongoing intestinal destruction, and it pretty much knocked down the severe arthritic flares.

3. Most celiac is spotted late, not early, years after the damage starts to cause other diseases and symptoms and auto immune diseases. Doctors can only tell you to stop eating gluten, to try to save your digestive tract, they can't hover in your kitchen watching what you put in the pans.

[ravenwoodglass]

The other posters have given you some good advice. I think you gave up on the diet too early and may not have been doing all we need to do to keep ourselves safe. It is a learning process. You are in the right place to learn what you need to do. I became celiac in early childhood and progressed very, very far in the 40 or so years it took until I was finally diagnosed. Healing takes time and you do need to get back on the diet, very strictly. Ask any questions you need to ask.

[cap6]

In 2009,at the age of 49,I was diagnosed as celiac.It was part of a series of about thirty blood tests I had,to get some idea of what sort of medical problems I have had all of my life.I have diagnoses of autism,schizotypal personality disorder,and a lot of other stuff,that was consolidated as an adult,into a nonverbal learning disorder.

I also have had a lot of unexplained medical problems.I have had what I now know to be celiac,ever since I was a baby.I did not know the cause of any of these until I had had these tests.The doctor just sort of casually tossed off the fact I had celiac as an aside,and concentrated on what I now know to be secondary stuff.I was found to have all the signs of Open Original Shared Link,including megaloblastic anemia.(I now realize I have had symptoms of anemia since my late teens/early twenties.)This was what the doctor thought I had.I then got on the web,and learned everything I could about this disease.I joined the Google group for organic acidemias,and sent test results to hospitals all over the country,to try to get more help.I eventually learned I had levels that were very high,but nowhere near high enough for a true inborn error of metabolism,but the symptoms and treatment are the same.MTHFR mutations were also found,which may contribute to my problems.He also said I had the lowest vitamin D levels he ever saw.I now know about folate,B12,and vitamin D malabsorption in celiac,and how bad it can get.

A few months ago,I went back to the test results.I had three different COMT polymorphisms,which given my history,could very well be a marker for 22q11.2 deletion syndrome.In addition to the celiac,and all the autism/brain related stuff,I have history of what I now know to be polyarteritis,chronic pneumonia for ten years,and frequent,severe infections well into my thirties.The celiac switched from constipation,to pain,bloating,and toothpaste like BMs,after my first episode of polyarteritis.This was when I was ten years old.I am a male,and I never developed any adult skeletal muscles,or body hair.My bones in my arms,legs,and ribcage are about 1/3 smaller than they should be,but not in length.My body is like that of a 5'6" child.There were problems in sexual development,and puberty,even though my hormone levels are normal.My voice never changed.I suspect this is velopharangeal insufficiency.I had all kinds of tests,and saw all kinds of doctors,for over thirty years,and nobody could figure anything out.Once I learned about 22q,and did some reading about it,it all fell into place.

The only problem is I have yet to be tested for the deletion.My doctor is now convinced this is what I have,but the insurance will not pay for a FISH test.I have offered to pay for the test myself,but the hospital's system is not set up for this.

I tried the whole Gluten-free Casein-free business for almost a year,and nothing improved.In fact,it made my wasting/weight loss even worse.I eventually said the hell with it,it's more trouble than it's worth.

So,now that I've given you some background,let me ask a couple of questions.

1.I know childhood onset celiac has a number of known phenotypes.I do not know what mine is.Are there some that do not respond to diet,or respond poorly to it?Are some of these associated with 22q?

2.If this is not the case,could my small intestine just be too far damaged to respond to diet?

3.Is diet only mentioned because most celiac is spotted early,and doctors don't know what to do in a case like mine?

Any help would be appreciated.

I was 59 when diagnosed. It has taken almost 2 years to heal and even now there are some bad days but the good far outweigh the bad. The older we are and the sicker we are the longer it can take to heal. It is never to late to start.

[dilettantesteph]

I was diagnosed at age 48 and was pretty sick, but I wasn't as badly off as you seem to be. I'm sorry. I seemed to respond to the diet right away, but then got sick again within a couple of weeks. I learned from my GI doctor that some celiacs react to lower levels of gluten than others. That is described in this reference.

Open Original Shared Link

I seem to react to lower levels than many and can't tolerate many processed foods. Gluten free grains can be contaminated with gluten. Open Original Shared Link

I have had to work very hard to find a diet that works for me. I use a food journal and try to add only one new food per week, checking for symptom development. The hardest is when something changes about my established "safe foods" and then I need to do a series of elimination diets to figure out what which one changed. Currently, I am not eating any grains.

It is possible that you will be able to find some relief from your symptoms if you are more strict with your diet. I wish you improvement in your health.