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Marrow needed for baby's rare autoimmune disease

August 2, 2011 12:00:00 AM PDT
A local family is dealing with a condition so rare, there are fewer than 150 cases documented worldwide.

When you meet baby Matthew, you'll find it hard to believe how ill he is and the struggles he's up against.

He looks like the chubbiest, healthy baby, but 6-month-old Matthew Dooley of Lake Elsinore is always hungry. He hasn't had real food for most of his life.

His mom and dad, Cinthia and Mark, say the trouble started several weeks after Matthew was born.

"He didn't look himself. He was looking up in the air. Just not moving, not talking," said Mark.

Matthew had a lot of diarrhea. He was losing a lot of weight. A trip to the emergency room resulted in Matthew spending two and half months in Children's Hospital of Orange County as doctors struggled to figure out what was wrong.

If he eats, he can't keep it in. A metabolic imbalance could shut down his brain and heart. So Matthew gets his nutrition intravenously and drinks 20 milliliters of Pedialyte every other hour so he doesn't forget how to eat.

After numerous tests for cancer and other conditions came back negative, Dr. David Buchbinder decided to test Matthew for a rare autoimmune disease called IPEX Syndrome.

"IPEX is a disease that most clinicians will never ever see in their lifetime," said Buchbinder.

In short, Matthew's immune system doesn't work and it attacks his organs.

"IPEX, if left untreated, is a fatal disorder," said Buchbinder. "So we would expect the patient to die."

Of the few known cases, most patients die. But Matthew was fortunate enough to be diagnosed early. His best hope: a bone marrow transplant. Matthew's marrow doesn't make the cells that regulate his immune system.

Dr. Buchbinder says the goal is to remove his bone marrow "factory" and replace it with a new one.

"And that new factory will make those regulatory cells for Matthew," said Buchbinder.

The family is searching for Matthew's donor match and even though they haven't found one yet, the Dooleys are already grateful for all the people who have volunteered to register.

Matthew's condition is so delicate that the family is in and out of the hospital on a weekly basis.

His mom says they've identified two potential marrow matches, but it'll be weeks before they figure out if one of them will be a suitable donor.


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