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Celiac Diagnosis Changes Boy’s Life
Posted By Lisa Fitterman On 2011/04/05 @ 3:52 pm In Celiac Disease | No Comments
From the Allergic Living magazine archives.
Eamon Murphy started out life as an elfin, silent toddler. At 3½ years of age, he began to fall into short trances without warning, his blue eyes unfocused and his mouth moving as if deep in conversation with someone unseen. When his mom called out to him, he wouldn’t respond.
Then all of a sudden, he’d snap out of it, as if nothing had happened.
As eerie as they were, these fugues were only the latest of a long list of symptoms that doctors could not explain. Eamon’s parents, Bob and Lisa Murphy, had first taken the boy to the pediatrician when he failed to meet infant developmental milestones, such as tracking movement with his eyes and sitting up. It would only get more worrisome.
When he began to eat solids, Eamon’s habit was to stuff his mouth so full of food, he’d spit much of it out unchewed. Then there were the accidents that twice left him a tiny figure swathed in white: a full plaster leg cast at 18 months after his two big brothers bumped against him in the kitchen, and a sling for a broken arm and cracked collarbone about a year later, when his sister pushed him down in the front yard.
“It was like every time Eamon fell, something would happen,” Lisa Murphy says. “It wasn’t like with our other kids.”
In the early going, the pediatrician assured the parents that the problems were because their son was an adored if passive fourth child, who just went with the flow as the rest of the family cared for him. Eventually, he’d catch up. So the parents waited, anxiously watching for signs of improvement.
Only there weren’t any. When Eamon still wasn’t speaking at the age of 2, he was declared “speech and language delayed.” That’s when Lisa Murphy demurred.
“You know, I have this weird condition called celiac disease ,” she told the pediatrician. “Could it be that?”
She had been diagnosed four years before Eamon was born, while pregnant with her third child. It had been a long ordeal before the homemaker found out why she was always exhausted, why her hair was falling out and why she doubled over in pain when she ate something as small as a cookie.
Her family doctor at the time actually attributed her symptoms to stress – and recommended that Bob Murphy, a senior vice president at Citigroup Global Markets, take his wife out to dinner more often. When specialists finally found out she had celiac disease, Lisa read as much about it as she could.
She learned that her immune system saw gluten, a protein in wheat, barley and rye, as an intruder, and was responding by damaging tiny, finger-like projections in her small intestine that allow nutrients to be absorbed.
She became aware that the disease can lead to malnourishment, anemia and a host of problems , including osteoporosis, infertility and depression.
Once on a gluten-free diet, Lisa regained the energy to be a wife and mom – the unflappable center of an unruly, fun brood in the hamlet of Chappaqua, north of New York City.
Could her youngest child, who spat out food and broke bones like they were matchsticks, have the same disease?
But the pediatrician was adamant, broken bones and all. The boy’s mother was told: Eamon could not have celiac disease because if he did, he would have symptoms like a constantly bloated abdomen and diarrhea, and would be crying all the time.
Two years later, in 2000, Lisa Murphy’s world would be rocked when she attended a talk by Dr. Peter Green, the founder of the Celiac Disease Center at Columbia University. The affable physician launched into a speech about how celiac disease can present itself in a myriad of ways, from bloating to seizures and anti-social behavior, and he noted the condition was hereditary.
He urged those diagnosed with celiac to get their family members tested. A light went off for Lisa. She called Bob and the couple agreed they should get their kids screened  immediately.
Her eldest, Colin Murphy, who was then 11, turned out to be positive and already had developed osteoporosis in his spine and forearm.
And Eamon, whose fugues had so alarmed his family, was positive, too. At once angry over the misdiagnosis and hopeful, Lisa thought, “Maybe now, we’ve found the answer.”
About one per cent of the population in North America has celiac disease – a statistic that has already increased fourfold in the past 50 years and is only getting larger. Green says no one knows why.
Maybe it’s because gluten is present in so many more products, including lip balm and vitamins, or perhaps gluten itself has become more toxic, or there may be other environmental or dietary factors.
Next Page: Confusion Over Symptoms
Whatever the reason, an untold number of people will remain undiagnosed for years. This is because many physicians in North America still consider it a digestive disease and are often unaware of its daunting variety of symptoms.
“You can be irritable and tired, you can have symptoms of schizophrenia or ADHD, or you can experience tingling in your hands and your feet,” Green says. Or, you may lack coordination, have restless legs and seizures. “It can be a neurological or psychological condition.”
A recent Canadian case study illustrates this: the boy involved had celiac disease but his symptoms had been confused with autism.
“Just as vitamin C deficiency can result in scurvy, thiamine insufficiency can cause beriberi and vitamin D inadequacy can lead to rickets – deficiency of certain essential nutrients can result in brain malfunction, potentially manifesting as a developmental disorder,” wrote Edmonton physician Dr. Stephen Genuis.
Given that celiac disease can affect the brain and development, Green notes the importance of screening for it. “You’d think people should be routinely screened more often, especially since the treatment, a gluten-free diet, is so simple,” he says.
But on this continent, “the prevalent thinking is that if symptoms such as stomach bloat are not present, then look elsewhere for a cause.” Green can’t emphasize celiac tests enough.
Many parents of autistic children will experiment with a gluten-free diet, hopeful for improvement. Yet Green says that no matter the effects of the diet, it is important to test for celiac because the disease could be the cause of neurological symptoms.
If there is an official diagnosis of celiac, you’d know that the gluten-free diet requires lifelong adherence, and this would indicate that other family members need testing, as the Murphys discovered.
The first step in screening is a blood test. If that is positive, it’s usually followed by a biopsy of the small intestine to confirm the diagnosis. Screening must take place while patients are still eating gluten because if they stop, the test can result in a false negative.
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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