Rare disorder leaves Md. man isolated

By NANCY TREJOS / The Washington Post
06/28/2005
WASHINGTON — It takes Peter Interdonato 30 minutes to mix the IV cocktail of drugs his son must have every six hours: hydralazine to control his blood pressure, Reglan to help him digest, methadone for pain. Then, a separate tube of multivitamin supplements.
Michael is 21, with the body of a child and the energy of an old man. He is 5 feet 6 inches tall and his weight fluctuates between 85 and 100 pounds. Except for some occasional Chex mix and half a bowl of ice cream, he can eat no solid food. His drooping eyelids make him look tired, even in the rare moments when he is not. Rising from his wheelchair leaves him sweating and out of breath in minutes.
He has given up his job at a Washington movie theater. He has given up driving his Jeep. He has given up hockey, soccer and baseball. He has given up video games, as well as writing fiction.
What’s ravaged Michael has a name that can barely be wrestled into submission: mitochondrial neurogastrointestinal encephalomyopathy, or MNGIE, an exceedingly rare genetic disorder that destroys nerves, intestines, the stomach, muscles, even the brain. There is no cure. The average age of onset is 18. The average age of death is 38. The gastrointestinal problems leave many patients so emaciated that they can’t fight off infections.
Unlike others with serious illnesses, Michael is essentially cut off from those similarly afflicted. MNGIE has been diagnosed in fewer than 100 people worldwide. The National Organization for Rare Disorders, a nonprofit health agency based in Connecticut, defines a rare disease as one that affects fewer than 200,000 Americans.
There are days when the isolation wears on Michael. “I probably won’t meet anyone that has it,” he said.
Photographs from the days before he fell ill show an athletic youth with a furry goatee and a large smile. His hair is more tousled now, his speech slower.
With few others to turn to, his family has formed a grass-roots campaign to save him. His 17-year-old sister Danielle, an aspiring comic book illustrator who graduated from high school recently, maintains a Web site about Michael that has brought in almost $28,000 in donations.
Rare condition
MNGIE is passed down to a child from parents who each have a mutated gene deficient in an enzyme responsible for regulating molecules known as thymidine and deoxyuridine. Doctors believe that when present in high levels in blood, these molecules can damage mitochondrial DNA, genetic material inherited from the mother. When damaged, it cannot produce proteins that provide energy to the body.
Neither Peter Interdonato nor his wife, Marie-Cecile, had any idea that they carried the mutated gene. The chances that two carriers would meet and marry are extraordinarily slim, doctors said. But it meant that Michael had a one-in-four chance of getting the disease.
Danielle faces the same odds as her brother. Doctors believe she will not develop the disease, but her parents said they haven’t yet had her screened.
“It’s not something we really want to entertain right now,” Peter said. “Call us chicken. We can only deal with one sick child at a time.”
Doctors have tried an infusion of platelets without the enzyme deficiency on some MNGIE patients, which helped temporarily. Now, they believe replacing the bone marrow that produces the defective platelets could be a cure.
No MNGIE patient has tried a bone marrow transplant. After months of wrangling, the Interdonatos recently persuaded their insurance carrier, Empire Blue Cross/Blue Shield, to approve the procedure, which will cost about $200,000.
There’s no certainty that it will work.
“The only proof will be the first patient,” said Charles Hesdorffer, professor of clinical medicine and surgery at Columbia University in New York.
Because no one in the family had bone marrow that matched Michael’s, doctors will instead use umbilical cord blood. The operation could take place any day.
“There aren’t really other options,” said Peter Interdonato, 58, a professor of graphic communications at the University of the District of Columbia. “This is really his only opportunity.”
“He’s 21 years old,” said Marie-Cecile, 52, a part-time florist, “and he doesn’t want to live the way he’s living.”
Surprise onset
Aug. 23, 2002, was one of the last carefree summer days before the beginning of college for Michael. He showered and dressed for an afternoon of Nintendo with a friend. As he slipped a sock onto his right foot, he noticed his big toe hanging limp. He could not move it.
Perhaps he had put his ice skates on too tightly the day before, his mother told him. Maybe he had a pinched nerve from playing so much hockey, said his father.
Michael thought it was odd, but he was more concerned about getting to his friend’s house on time. By October, his other big toe was limp. By summer 2003, he’d lost most of the feeling in both feet.
In February 2004, he started vomiting almost everything he ate. After a few semesters at University of Maryland, he went on medical leave.
The first few doctors who treated him misdiagnosed another neurological disorder. Not surprising due to its rarity, said Michio Hirano, an expert on MNGIE who teaches at Columbia University.
These days, Michael rarely leaves his house, unless it is to see a doctor or physical therapist. After he became ill, he began spending most of his time in his second-floor bedroom. When he wants to go downstairs, his father carries him.
While video games are not possible now, Michael keeps buying them, leaving them unwrapped on his desk, a reminder of what he has to look forward to.

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