Matthew "Mattie" Stepanek's first three poetry books were national bestsellers, and he's appeared on both The Oprah Winfrey Show and Larry King Live- all before he turned 12. Still, the young poet's greatest accomplishment may be living at home with his mom instead of in a hospital room.

That's because Stepanek has been fighting for his life since he was born with dysautonomic mitochondrial myopathy (DMM), a rare neuromuscular disease related to muscular dystrophy (MD).

"In the last year my life has changed a lot, not only since I got on a ventilator," says Stepanek as he sucks in air through a tracheotomy tube protruding from his throat. "But since I've been on TV, people recognize me a lot and we travel a whole lot more than we used to, and oh yes, I have a five month old golden retriever named Micah."

Jeni Stepanek, who has adult onset DMM, says she has to stay two steps ahead of her son's illness.

"Recently something happened to our air-conditioning which soaked a rug from underneath causing mildew," says Jeni Stepanek. "Because he is deathly allergic to mildew, we moved out of our house in an emergency. Plus, he had to have an emergency blood transfusion."

Because the Stepanek's and their doctors have learned to respond immediately to any slight change in his condition, and because of his courage, strength, and hope, Stepanek continues to thrive.

"My medical health has gone up again," says the best-selling author. "I'm breathing okay, I'm used to the vent now. Even though I'm still on the edge, I'm not falling off the edge."

This Labor Day, replete with his motorized wheelchair and ventilator, Stepanek will appear on the Jerry Lewis MDA Telethon as the National Goodwill Ambassador for the Muscular Dystrophy Association (MDA). The telethon begins this Sunday evening and airs nationally for nearly 22 straight hours.

The road taken

"I let people know that the MDA raises money to find the cure for all the different types of muscular dystrophy, (MD)," says Stepanek, "and finds ways to celebrate life along the way. Some of the money goes to things like wheelchairs and leg braces. Some goes to the MDA summer camp, which is a wonderful place where kids with all different types of muscular dystrophy can go and do so many normal camp things and almost forget that they have to deal with this life-threatening disease everyday."

"Most of all, the money goes toward a cure," adds Stepanek. "We can never stop hoping for a cure. True, it may not be in my lifetime, or your lifetime or anyone's lifetime right now, but if we give up the hope, it won't be in anybody's lifetime and that would be very sad."

About 250,000 people in America have MD, a group of nine related, inherited, and progressive neuromuscular diseases that destroy muscle tissue.

All forms of MD have three features in common:
* A hereditary component
* Progressive development
* A characteristic, selective pattern of muscle wasting

MDA supports research for another 30 related diseases, including myasthenia gravis, Lou Gehrig's disease, and other mitochondrial diseases.

Understanding DMM

"We think mitochondrial diseases are even more common than Duchenne muscular dystrophy, which is the form of MD everyone associates with the disease," says Dr. Bruce Cohen, Chief of Pediatric Neurology at the Cleveland Clinic Foundation. "Conservative estimates are that one in 4,000 has mitochondrial disease, however it may be as common as one in 1,000."

Mitochondrial myopathy is a highly variable set of diseases and can affect any organ. Children can present with:
* Cognitive problems
* Uncontrolled epilepsy
* Developmental delays
* Weak muscle tone
* Cardiac failure
* Failure to thrive

In adults, it tends to present with muscle pain, weakness, varying degrees of dementia, and in rare cases, intractable seizures. It can also present with visual loss.

"The mitochondria which are our energy cells, are sort of like little power plants that provide energy to the body," explains Dr. Kim Witzman, pediatric pulmonologist, Children's National Medical Center. "When you have trouble with the power plants, you have trouble getting energy where it needs to go. So in the sense that it affects Mattie's muscles, it causes a 'muscular dystrophy' or weakness."

"Mattie's disease is different because he has the dysautonomic component of the mitochondrial myopathy," says Witzman, Stepanek's primary physician. "He has trouble with his lungs and getting oxygen to his body."

The autonomic nervous system carries signals to help control automatic things like blood pressure, sweating, respiration, intestinal activity, breathing, pupil size, and, to some degree, urinary constancy.

"In disorders of the autonomic nervous system you can get high or low blood pressure, sweating or no sweating, rapid or slow heart beats, severe constipation, or diarrhea. Your skin can turn blue, gray or red," says Cohen. "Children get hives all over their body. These can be fleeting problems or persistent. It is a very unstable situation."

"Mattie's prognosis is unknown," says his mother. "Nobody thought he'd be alive today. You can't give a prognosis when you don't know the course, because no child diagnosed in infancy has ever lived this long. They don't understand it."

Eternal optimism

With all the forms of MD and the mitochondrial diseases, for the most part doctors treat the symptoms.

"We tend to use a lot of vitamins and supplements, which in some patients help improve some of the muscle function," says Cohen. "There is an experimental drug that is going to go into testing soon that is called triacetyluridine. It appears that people with mitochondrial disease may be deficient in uridine, which is a form of nucleic acid. There is a drug in testing now called dichloroacetate for lowering lactic acid, which is a marker for mitochondrial disease."

"We are not going to get any further without research," adds Cohen. "The Muscular Dystrophy Association does a great job of raising money for a lot of diseases, plus the United Mitochondrial Disease Foundation is in the middle of a $ 5.2 million research initiative campaign. We are out to solve the mystery of mitochondrial disease for everyone affected by it."

"As far as treating Mattie's disease," says Witzman, "all the doctors involved in his care are very sensitive to the fact that Mattie's body acts very differently, and there isn't a lot of information, so we're very quick to react to changes with him. I really think Mattie's joy of life and incredible will power and desire to succeed has kept him here."

"Sometimes my body wakes me up and says 'Hey, you haven't had pain in a while. How about pain,'" says Stepanek. "And sometimes I can't breathe and that's hard to live with. But I still celebrate life and don't give up. Remember to look at your glass half full and not half empty. A lot of my strength comes from God. God has given me a gift - the gift of life - and it's amazing that I live each day."

Mattie's Poem
For Our World

We need to stop.
Just stop.
Stop for a moment
Before anybody
Says or does anything
That may hurt anyone else.

We need to be silent.
Just silent.
Silent for a moment...
Before we forever lose
The blessing of songs
That grow in our hearts.

We need to notice.
Just notice.
Notice for a moment...
Before the future slips away
Into ashes and dust of humility.

Stop, be silent, and notice...
In so many ways, we are the same.
Our differences are unique treasures.
We have, we are, a mosaic of unique gifts
To nurture, to offer, to accept.

We need to be.
Just be.
Be for a moment...
Kind and gentle, innocent and
trusting
Like children and lambs,
Never judging or vengeful
Like the judging and vengeful.

And now, let us pray
Differently, yet together,
Before there is no earth, no life,
No chance for peace.

from Hope Through Heartsongs, by Mattie JT Stepanek
(Hyperion Books; April 2002)