Local boy diagnosed with extremely rare disease that causes him to suddenly stop breathing

By: Kay Quinn

KSDK -- Being diagnosed with any serious illness can be a psychological blow.

But for people with extremely rare diseases, the lack of information about what's making them sick can be even more troubling.

Here's a look at these so-called orphan diseases, and one little boy's courage in the face of something very few doctors even know about.

There are 11 hundred diseases so rare that they make the list held by a national organization for rare disorders.

A four year old Webster Groves boy's illness is so unusual, there are only 30 known cases of it in the world.

Like a prince holding court, Mason Byrom works the halls, greeting all of his fans at St. Louis Children's Hospital. The nurses and doctors are all old friends. They were his lifeline in June of last year, when Mason stopped breathing at school.

"Mason had always been very healthy," says his mother, Julie Byrom. "Never had any problems."

But on June 12, Mason's teacher called Julie saying he didn't look himself, and then she got another call that he seemed to be restless. As Julie left work early to pick him up, she got the cell phone call she'll never forget.

"I just had gotten on the highway not five minutes later and they called me and said they called 911 because they could not wake him up," recalls Julie. "And I work in Chesterfield and I was on my way to Shrewsbury and Highway 40 was closed, so I had at least 45 minutes in the car that I had to drive knowing that they couldn't wake him up."

Mason was rushed to St. Louis Children's Hospital.

"He was in intensive care for about 10 days on a ventilator and then a total of two months were at children's," says Julie, "and was finally diagnosed with ROHHAD."

ROHHAD stands for "Rapid Onset Obesity with Hypothalmus Dysfunction, Hypoventilation and Autonomic Dysregulation." The disease causes rapid weight gain, a problem with eye muscles called strabismus. Mason has both. It also causes high sodium and prolactin levels in the blood.

But the most frightening symptom is the tendency to stop breathing without warning. That's what happened to Mason on June 12.

"You think how could it possibly be," says Mason's father Larry Byrom. "But then you say, why couldn't it happen to me. I mean it's just in a million years you'd never think it would happen."

A rare disease is defined as one that affects fewer than 200 thousand people in the U.S. ROHHAD has only been diagnosed a 31 or so times in the world! And doctors at Children's Hospital found it with the help of the internet.

Dr. Brian Bezack is a pediatric pulmonary medicine expert at St. Louis Children's Hospital. He says he and his colleagues couldn't come up with a solid diagnosis for Mason. So they put out an electronic call for help.

"Posted his story onto a list site a lot of the pediatric pulmonologists actually talk to across the country," says Dr. Bezack, "and a couple of papers were referred to us and all of a sudden we started to look through everything and he sort of seemed to fit the picture."

Like most orphan diseases, very little is known about what causes ROHHAD, and how to treat it. The term "orphan" is used to describe rare diseases because there's little incentive for drug and medical companies to adopt them and develop medications or treatments.

"It's always tough when you don't have a lot to offer the family on diagnosis," says Dr. Bezack. "That's why research is so important. But I think in this case, finding out the diagnosis was important for the family."

Mason uses a ventilator while he sleeps during naps and at night. It breathes for him should he stop breathing.

"It was very scary," says Julie, "and it still is scary because no one can tell us what the future will hold for Mason and half of the children that have the syndrome he has have to be on a ventilator for 24 hours a day."

Photos from the past show how Mason's disease has changed his appearance. But it hasn't changed the happy, gentle spirit of a little boy who's faced so much in his short life.

"At first you're just heartbroken," says Larry. "But then you see how courageous he is, that, how bad would it be for us to be not the same way?"

25 years ago, a law was passed offering tax and other incentives to drug companies that adopt so-called orphan diseases, and develop medicines to treat them.

Since that time, more than 200 orphan drugs have been approved by the FDA and are on the market.