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Celiac Disease

Celiac Diagnosis Changes Boy’s Life

Some of the more dramatic cases of undiagnosed celiac have been documented in medical journals, including that of a 13-month-old girl who had been thriving until she suffered an upper respiratory tract infection that left her with “flaccid paraparesis,” or floppy legs.

An article in The Lancet says the girl was pale and listless when she was admitted with a diagnosis of Guillan-Barré Syndrome, an autoimmune disorder that affects the peripheral nervous system.

Tests proved within normal limits, until doctors reviewed her growth in height; she had dropped from the 25th to the 5th percentile of her peer group in just five months. This led to the theory that she was not absorbing nutrients properly.

A biopsy showed evidence of celiac disease so she was placed on a gluten-free diet. Within two weeks, the girl with “floppy legs” was sitting up and pulling herself up to a standing position. Five years later, when the case study was published in 2005, she was in perfect health.

Then there is the remarkable story of Dr. Stephen Genuis’s patient, a 5-year-old boy who had been diagnosed two years earlier with a severe communication disorder, then later autism. In their article published in January 2010 in the Journal of Child Neurology, Genuis and colleague Thomas Bouchard note that until he was 2 years of age, the boy’s physical and behavioural development was normal.

But that changed: he became picky with food and had problems communicating – either whining continuously or screaming for no reason. He began to exhibit echolalia (the constant repeating of words spoken by another person) and he suffered from extreme tiredness, rectal itchiness and painful bloating.

Although both Genuis and the boy’s family declined interviews with Allergic Living, the article reveals the parents refused to accept that this was to be their son’s life. The mother, a health-care worker, made the rounds to a chiropractor and practitioners of alternative medicine. But the original diagnosis stood.

Finally, the family saw Genuis, who found that the little boy, in addition to all his other symptoms, happened to eat a diet high in wheat products.

A nutritional biochemistry assessment showed that the boy was deficient in vital, fat-soluble vitamins such as A, D and E, in omega-3 fatty acids and polyunsaturated omega-6 fatty acids, in coenzyme Q10, necessary for the basic functioning of cells, and in folate, a lack of which has been linked with depression, anemia, weight loss and behavioural disorders. Further blood tests for antibodies that indicate celiac disease were positive.

Genuis acted quickly. All gluten was immediately eliminated from the boy’s diet and he got vitamins and supplements such as cod-liver oil. Within a month, the boy’s physical symptoms were relieved and the mother contacted the doctor’s office to say her son was growing more communicative and told her “I love you” for the first time.

After only three months the turnaround was nothing short of remarkable. The boy no longer needed an individualized learning program and was integrated into a regular school class. And the progress continues: in January, Allergic Living received an e-mail from Genuis’s office saying the boy is doing well, even participating in skateboarding and hockey.

“The investigative approach in this case is presented not as a solution to all autistic patients’ impairments,” the study noted, “but to raise awareness that nutritional status could play a central role in central nervous system function.”

Back in Chappaqua, fast-forward 10 years. Colin Murphy’s osteoporosis has reversed itself, he has lost weight and is doing a double major in international political economy and Spanish in Fordham University in New York, with a minor in theology.

And little Eamon of the trances? He is now 13 – a 5-foot, 8-inch, 155-pound athlete who excels at both baseball and basketball.

Eamon also plays the saxophone well enough to have confidently serenaded his sister and about 70 guests last fall with a jazzy “Happy Birthday” for her Sweet Sixteen.

“I see video of me when I was younger and I think, ‘That’s not me,’” says Eamon. “It’s like I’m looking at a stranger. If I was going to take a lesson from all of this, it’s that doctors and everyone else have to keep an open mind. That would be my message.”

First published in Allergic Living magazine. Subscribe here.



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