About my family's cryptic gluten sensitivity...
My daughter “J” started having diarrhea rather abruptly, around age 3, with bright florescent green, foul smelling, and explosive episodes several times a day. The doctor suggested this might be rotavirus, but it would have to run its course. Weeks and months passed, eventually years. The diarrhea had phases of severity, but in the end she was having five-six explosive episodes daily for about a year. I was first told that intestinal viruses often last months, and later to eliminate dairy (which helped some), and next time to eliminate juice (which she didn't drink). In the end she was also having bothersome rough red hand rashes, a recurring mosquito bite like rash with vomiting, and fleeting neurologic episodes (which were starting to happen weekly to daily) of leg weakness, leg drag, staggering, eye lid drooping, lazy eye, and periods of a limp body “rag doll” fatigue. She had a couple episodes each of slurred speech, difficulty swallowing, and loss of bladder control. Nobody noticed, not even me until later, that her weight had dropped on the charts from the 75% to the 25% over two years. She was pale, and had dark purple circles under her eyes. Her happy go lucky nature had turned irritable.
Finally, in May of 2001, our pediatrician recommended we see a GI, who did think of CD. The blood tests were run, although IgA deficiency was never ruled out. My daughter had only a positive antigliadin IgG of 30, and a biopsy was recommended by the GI even though Celiac Disease was considered an “unlikely” possibility.
After careful consideration, and discussion with our pediatrician at the time, we opted to skip the biopsy for several reasons. We knew her blood results were a weak indicator they’d find damage on biopsy. Since I had read the work of Dr. Hadjivassiliou, thanks to BrainTalk Communities Neurology forum, I knew there was at least a chance that gluten sensitivity could manifest neurologically without evidence of intestinal damage. So, whether a biopsy showed negative or positive became rather inconsequential to us. We were prepared for a gluten free diet trial either way.
We chose to spare her the procedure (not to mention the expense) and decided to let the diet speak to us. Within a week we saw about an 80% improvement with the diarrhea...episodes dropping from 5-6 down to 1-2, and much less explosive. Eventually, after months, her stool became formed. The neurological symptoms completely resolved over several months. She has had no more episodes of unexplained rashes/hives or vomiting. About six months into the gluten free diet she began experiencing a resurgence of diarrhea, and we pinpointed other problem foods including dairy, apples, and corn...although we just limit these. They didn't cause the neurological problems~ just GI symptoms.
The discovery of something called Gluten Sensitivity/Celiac Disease led us to a probable answer for my daughter K's many years of symptoms. She is now a young adult, but her symptom list during her childhood years includes: joint and bone pain, rashes and hives, mood swings, frequent general illness, sinus and throat infections, sleep disturbances, stomach aches, dry eyes and mouth, frequent canker sores, defective dental enamel, muscle spasms, back pain, seizures, chronic asthma, and a variety of abnormal labs along the way including abnormal high alkaline phosphatase, abnormal high CK, abnormal low potassium, repeated abnormal low ALT/AST (which can indicate B6 deficiency), and some other borderline low values, ...but none abnormal ENOUGH to raise concern.
I’ll spare you the trouble I had getting the appropriate tests run, but always request copies of your lab results to make sure the appropriate test were run and to verify the results! "K" also had only an isolated positive antigliadin IgG of 33. Her Total IgA was slightly below the lower range limit. We followed through on the biopsy for her because, at age 14, she refused the diet without "proof"~ and that we did not get. Her biopsy was normal, and a second expert opinion agreed.
Her GI insisted a gluten free diet was not necessary because her intestinal biopsy was negative, and that all the information I had read on gluten related neurological disease presenting before or without biopsy evidence of Celiac Disease was purely speculative. I believe the word was 'poppycock'. She refused to even glance at the literature I brought with me.
K’s stomach sample did show lymphocytic infiltration / indication of minimal chronic gastritis [never mentioned to me, but found upon requesting the biopsy report]. My searches led to information that this condition is associated with, but not diagnostic of, gluten sensitivity. It is also associated with h. pylori, which had been ruled out in pathology.
For those unaware, seizures can possibly be a neurologic manifestation of gluten sensitivity, due to nutritional deficiency and/or immunological factors. I suspect my daughter’s seizures were related to B6 deficiency. Shortly after the onset of her seizures at age 12, I received a tip from an Internet acquaintance that my daughter may benefit from B6 or magnesium. So, I tried it, and her seizures seemed to improve more than they had with Depakote alone. Her mood swings and sleep disturbances improved, as well. When I reported this to her neurologist, he said, “Vitamins shouldn’t make any difference one way or the other.” After three years she was weaned from Depakote, and has remained seizure free. Of course, I cannot prove that B6 deficiency caused her seizures, but that is my hunch based on everything I know. "Puffy face" was one of her noticable symptoms during the time of her seizure onset... just one more symptom of B6 deficiency. Unfortunately most of our doctors don't recognize subtle symptoms like these.
A few years later I learned about a little known and somewhat controversial condition called Pyroluria from another Internet acquaintance. So many of the symptoms fit for daughter K that I decided to pay the $60 dollars for the diagnostic test, and she tested positive with a moderately high result. Pyroluria involves primarily a B6 and zinc deficiency, and is associated with mood disorders, seizures, and gluten/casein sensitivities. The pieces just keep fitting.
I was diagnosed hypothyroid in 1989, and B12 deficient in April 2000 after 3-5 years of progressive neurological and other symptoms. It took three years and eight specialists before one thought to check my B12 level, and thankfully he was a neurologist who realized that a low normal B12 can cause problems. I have had a lifetime of GI issues including frequent bouts of gastritis and frequent on and off episodes of diarrhea. I have also had many abnormal labs including repeated abnormally high alkaline phosphatase, and isolated occurrences of border low albumin, abnormal low calcium, abnormal low potassium, high bilirubin...but again, nothing abnormal enough to raise concern. Most never mentioned to me. All of the Celiac and Pernicious Anemia related antibodies were negative for me. IgA deficiency was never ruled out. I asked for a biopsy, but was denied because of negative antibody tests. I have had a highly positive anti-TPO (thyroid) and a low positive anti-ANA (likely due to the autoimmune thyroid disease).
I went gluten free primarily to support my youngest daughter on the diet, and because I felt it was likely in my best interest given my personal and family health history… and it certainly wasn’t going to hurt me. Frankly, I can't imagine eating something that was doing such harm to my children. We keep a gluten free home, and while my husband still eats gluten away from home, he has cheerfully supported our gluten free existence.
I had many improvements with B12 and other vitamin therapy one year prior to beginning a gluten free diet, but I have enjoyed additional improvements since. After a lifetime of nagging GI problems, they are all gone! No more reflux, no more pain after eating, no more bouts of diarrhea, no more excessive gas and bloating, and no more blood in my stool. My skin is better. My seasonal allergies are better. No more nagging joint pains. I haven’t had a sinus infection in three years! This is great news from someone who once suffered chronic sinusitis. My labs have normalized. I guess it’s working for me. I still have some memory and concentration problems that have not completely resolved since my B12 deficiency diagnosis~ but even after all these years I sense continued slow improvement in these areas.
In March 2003, purely out of curiosity, I decided to do the genetic testing through Enterolab for myself and my youngest daughter. I was just sure with a heavy family history of autoimmune thyroid disease, a father with insulin dependent diabetes, and two gluten sensitive daughters that we would carry the main Celiac genes. WRONG!! We both carry double copies of HLA DQ1~ a gene that shows predisposition for gluten sensitivity, but only rarely Celiac Disease (1-2%), according to Dr. Fine. HLA DQ1 is also the genetic type that Dr. Marios Hadjivassiliou has found in 20% of his gluten sensitive neurologic patients, with the remaining carrying the DQ2 or DQ8 gene seen in Celiac Disease.
I should probably mention somewhere here that I also have a young adult son, D, just so he doesn’t think I've forgotten him. D had a childhood of chronic ear infections (ear tubes), lung infections, asthma, environmental allergies (allergy shots), and lots of unexplained rashes and hives. Thankfully, he tested negative for Cystic Fibrosis, but it says something that he was even tested for it. They settled on a diagnosis of 'mucousy kid'. He projectile vomited his first year, always full of mucous, and was a svelt 19 pounds on his first birthday. At preschool, they pinpointed his recurrent hives to whole wheat rolls and suggested we feed him cheap white bread. Little did I know then! Like me, he also tested negative to all Celiac related antibodies. My guess is he has some degree of gluten sensitivity nonetheless… and I won’t be utterly surprised if he is hypothyroid by 35.
This is as diagnostic for my family as it’s going to get~ at least in this decade. I still face skepticism by my local doctors about non-Celiac gluten sensitivity and pyroluria. I gladly accept my children's and my own "Internet diagnosis" and "Internet cure" that consists of dietary changes and nutritional supplements. Gone are my old psuedo diagnoses and symptoms of BPPV, RLS, BFS, idiopathic PVC’s, and GERD, not to mention the more serious and frightening symptoms of B12 deficiency (neuropathy, ataxia, and more). It scares me to think of where my youngest daughter would be now had we not taken the gluten free plunge on a leap of faith. And it saddens me to think of how my older children's health might have been better if I had known twenty years ago what I know now, although at least they know now. Many people suffer an entire lifetime never knowing to suspect diet or vitamin deficiency might be the cause of their health problems.
And that’s a wrap! If you have made it this far, thank you for your interest. There is a definite divide among the medical professionals when it comes to Gluten Sensitivity vs. Celiac Disease. The fact that gluten sensitivity without Celiac Disease can cause serious health problems still remains unrecognized by many/most doctors. I have met so many people who have improved on a gluten free diet, with and without Celiac Disease. I hope sharing my family's experience will help others to find answers. I absolutely believe the answers come more quickly if you go looking for them. I've proved that repeatedly. Networking the "medical underground" is where it's at.
Good luck on your own journey~