A Medical Mystery
The Little Boy Who Can't Eat Anything
BY JIM MCCLEARY
“Something’s really wrong,” Jennifer Gonzalez recalls thinking.
Her newborn son, Michael, was suffering from frequent vomiting and excessive diarrhea. He seemed to be unable to digest nutrients. His tiny body was literally rejecting any and all food.
“I knew first-time moms could be overly anxious about everything. But I also knew something just wasn’t right. It wasn’t OK,” Jennifer says.
For months after he was born in 2009, baby Michael couldn’t eat anything without getting sick. And now, five years later, virtually nothing has changed. It’s a daily struggle to keep him fed and nourished. The options to cure his condition are few.
It’s a case that has baffled doctors nationwide.
Home from the hospital after his birth in Fort Myers, Florida, Michael would sometimes wail for 20 hours straight. In fact, doctors once told Jennifer and her husband Thomas that Michael had broken a blood vessel in his throat from crying so much.
When Michael couldn’t keep even hypoallergenic foods down, like rice and apples, the Gonzalezes feared the worst.
They frantically sought medical advice from a number of specialists. Eight different doctors from across the country were unable to diagnose a specific problem. Each expert told them their son was suffering from a reaction to foods that he would most likely grow out of one day.
“But most children who have food reactions only have acute reactions, not chronic reactions, like Michael was having,” Jennifer says. She wasn’t happy, or satisfied, with any of the doctors’ conclusions.
Much to the Gonzalezes’ relief, the ninth doctor they consulted had a different diagnosis: Michael was suffering from a rare condition known as Food Protein Induced Enterocolitis Syndrome (FPIES). It took more than two years but the Gonzalezes finally had a name for their son’s affliction.
FPIES is a type of food allergy affecting the gastrointestinal tract. Unlike typical food allergies, symptoms may not be immediate and don’t show up on standard allergy tests.
“When we finally got a diagnosis, there was some relief,” Jennifer says. “At least we knew what was wrong.”
But the good news stopped there. In addition to FPIES, doctors soon made a secondary diagnosis, something known as Mitochondrial Neurogastrointestinal Encephalopathy, or MNGIE.
Almost all people with MNGIE have gastrointestinal dysmotility, a condition in which the muscles and nerves of the digestive system don’t move food through the digestive tract efficiently. Patients then can’t absorb nutrients from food, causing extreme weight loss and wasting of the muscles.
Only 70 cases of the disease are currently known.
The parents of an individual with MNGIE each carry one copy of the mutated gene, but they typically don’t show signs and symptoms of the condition.
“We had no idea we were carriers of the gene,” Jennifer says, referring to her husband and herself.
The combination of FPIES and MNGIE is potentially deadly in Michael’s case because the two different diseases are attacking his body’s digestive system.
“He is the youngest patient I’ve ever heard diagnosed with MNGIE,” says Dr. Michio Hirano, professor of Neurology at Columbia School of Medicine in New York. Hirano is considered to be one of the leading researchers in the field of MNGIE. “The average age of onset is about 18,” he explains.
Hirano has studied mitochondrial diseases–there are more than 100 strains–for more than 20 years. “I’ve never heard of one patient with both MNGIE and FPIES,” he SAYS. “That combination is unusual.”
The initial stages of MNGIE are characterized by the rejection of food but the disease can then lead to other issues including blindness, seizures and the loss of motor skills. Those suffering from the disease frequently end up in wheelchairs, go blind, and often don’t live past 35.
“With a disease like this you don’t know if it’s going to get worse in a year, or in five years or when he’s 30,” Jennifer says. “It’s like Lou Gehrig’s Disease. It just depends on how long your body will fight it off.”
Each case progresses at a different speed, giving few clues as to the patient’s actual life expectancy.
As a result, there are only two items Michael can consume without a problem: a formula for highly food–allergenic children called Neocate, and hemp seeds. (Thomas says the seeds taste like sunflower seeds.) Even the water Michael drinks is specially purified.
Despite that limited diet, Jennifer says Michael has yet to feel the full physical effects of his diseases. In fact, she says most of the time he appears to be a completely normal child, full of energy and curiosity.
“Michael understands that we can eat things and it doesn’t hurt our belly but it hurts his,” Jennifer says. “That’s about the extent of his understanding of his ailment.”
The larger challenge now has become his long-term prognosis. The progression of MNGIE can potentially be stopped through a bone marrow transplant— but that requires an acceptable donor.
Because waiting lists are long, potentially taking years to find a match, the Gonzalezes instead looked to Michael’s six-month-old brother Matthew as a potential source.
It was a long shot. There was just a 30 percent chance that genetic testing would clear Matthew as a viable donor for his brother. Matthew, unlike Michael, has shown no signs of the diseases.
“When the nurse called with Matthew’s test results in April she said, ‘Are you sitting down? It’s a match! He’s your donor.’ We were ecstatic,” Jennifer says.
Dr. Hirano says a transplant has significant risks but Michael’s young age gives him a huge advantage.
“There have been 24 MNGIE patients worldwide who have undergone bone marrow transplants and nine patients are still alive,” Hirano says.
The youngest MNGIE patient to have undergone a transplant was a 10-year-old girl in Israel. “She was able to return to school and did remarkably well,” he says. “She’s now in her early 20s and doing fine.”
But because bone marrow transplants don’t have a high degree of success at stopping MNGIE, health insurance companies consider the procedure experimental and won’t cover the expenses.
“Michael is covered under three different companies and none will help with any of the costs,” Jennifer says.
As a result, The Gonzalezes are resigned to the fact they’ll have to pay for the surgery themselves. But money is tight (Thomas works for the state as a firefighter and Jennifer has just completed her nursing degree), and the final price tag for the procedure could be as high as $150,000. Michael’s previous medical expenses have pretty much drained all of the Gonzalezes’ savings.
The family is constantly looking for new and creative ways to raise money. They’ve created a website on YouCaring.com, and they’ve also asked for local help from community organizations, including Thomas’ small fire squad. In addition, there’s a Facebook page that details the Save Little Michael Foundation (and indicates ways to donate), and a website called savelittlemichael.
But the bills come in faster than the contributions.
“I’ve had to reach out and ask for help because we’re in over our heads,” Jennifer says. “I’ve had to put my pride on the shelf. It’s not like I’m asking for 20 grand to go do my hair. I’m trying to keep my son alive and give him a normal life.”
A normal life that one day, she hopes, will include regular food like hamburgers, cookies, or ice cream.
“He loves to say, ‘When I get better, I’m going to eat pizza with you,’ ” she says. “Sometimes I don’t know whether to smile or cry.”
Jim McCleary can be reached at email@example.com
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