17 month old Skyler McAdams of Holliston, who has spinal muscular atrophy, shares a moment with her parents, Jeff and Kim. (Staff photo by Allan Jung)

Tine Powell cares for her daughter, Gilly, who has a fatal muscle disease, spinal muscular atrophy. (Photo by Alex Borghi)

Bringing quality to life: Local parents turn to N.J. doctor to treat children with incurable disease

By Michelle Hillman
Monday, October 7, 2002

HOLLISTON - There's a silent communication between Skyler McAdams and her parents.

Skyler, 17 months old, has a rare neuromuscular disease that prevents her from talking, swallowing or moving her limbs or trunk on her own. The genetic disease is called spinal muscular atrophy, or SMA, which usually kills its victims before their first birthdays.

But Skyler's parents, Kim and Jeff McAdams, are following a controversial treatment they believe is saving their daughter's life. Others believe the treatment, which requires children to use ventilators to breathe at night, provides the children with a poor quality of life.

There are few hospitals in Massachusetts or elsewhere offering the treatment, but the McAdamses are trying to change that and raise awareness about the disease.

When the McAdamses brought their newborn home from the hospital, they had no reason to think Skyler was anything but healthy. Their two other children, daughter Casey, 5, and son Luke, 7, were healthy. But at 5 weeks, Skyler started to change.

She stopped moving her arms and legs. Alarmed, the McAdamses took her to Children's Hospital in Boston. What they found was even more alarming: Their daughter had a fatal disease with no cure.

Doctors told them there was nothing to do but bring their daughter home and wait and watch until she died of respiratory failure.

"When you first receive the news and you're told your child is going to die, it's devastating," Kim said. "You're told there's absolutely nothing you can do for your child."

The average lifespan for children with SMA Type 1 is seven months. Many die from respiratory failure when their muscles can no longer pump air through their lungs.

Kim cares for Skyler seven days a week, 24 hours a day. She's become something of a medical expert on SMA Type 1. Skyler's care requires Kim to monitor her oxygen levels manually using a suction device to clear Skyler's mouth of saliva and secretions. Skyler can't swallow because her muscles are too weak.

For a child to have SMA, both parents have to be carriers of a recessive gene. Carriers of the gene have a one-in-four chance they will have a child with the disease. There are only a few families in Massachusetts, including ones in Hudson, Norfolk and Dracut, who have children with the disease.

Skyler will probably never walk or speak clearly. Kids with SMA Type 1, the most severe form, cannot sit up on their own and usually cannot be upright for long because they'll choke. They cannot use any of their trunk muscles.

The bodies of children with SMA are limp. Their legs and arms dangle and they have little movement of the head, fingers and toes. But looking into their eyes, it's easy to tell these children are very much alive.

"She's fighting every day," said Jeff McAdams.

Shortly after bringing their daughter home with the SMA diagnosis, the McAdamses searched on the Internet for help, for other families in the same situation, for advice.

Kim found Dr. John Bach, a a New Jersey physician and pioneer of an experimental therapy or "protocol" that was keeping SMA Type 1 kids alive.

The McAdamses took Skyler to see Bach when she was 4 months old. Before finding Bach, they thought there was nothing they could do.

The McAdamses say physicians in Boston refuse to implant a feeding tube into the stomach of an SMA child. Families leave the state to get the procedure done.

Many physicians don't subscribe to Bach's protocol because they say it leaves the children with a poor quality of life. Even with Bach's protocol, the prognosis doesn't call for SMA kids to live beyond their teens.

But the McAdamses are fighting to get Boston hospitals to offer Bach's treatment regimen, in which a tube is implanted to intravenously feed the child once he or she loses the ability to swallow. The child is hooked up to a ventilator at night to help expand lung capacity.

As part of Bach's treatment, a "cough" machine blows 40 pounds of pressure into the lungs simulating a cough and clearing the airways, because children with SMA don't have the ability to cough out fluid in their lungs.

Like the McAdamses, Tine and Rex Powell of Hudson also believe in Bach's protocol. They met Kim McAdams after searching the Internet for help when their daughter Gilda, or "Gilly," was diagnosed with SMA Type 1 when she was 4 weeks old.

"We were kind of devastated and in shock and everything," said Rex. "We didn't know which way to turn."

The Powells began noticing something was wrong when Gilly's hands and legs got weak and she had problems breathing.

Before the diagnosis, the Powells researched neuromuscular diseases as the McAdamses did. The news was devastating because they knew the disease was fatal and doctors didn't offer any hope.

"They just were making it a death sentence and everything," said Rex. "Take her home and enjoy her while you got her."

The couple traveled to the University of Dentistry and Medicine/New Jersey Medical School, where Bach practices. They said Boston pediatricians wouldn't put a feeding tube in their daughter.

In February, Gilly got her feeding tube and the Powells began following Bach's protocol. Two weeks ago Gilly celebrated her first birthday at her family's Hudson home.

But getting the proper care for their daughter is still tough. Earlier this year Gilly's lung collapsed. At the hospital, physicians refused to follow Bach's protocol. Gilly's other lung collapsed and the Powells decided it was time to go back to New Jersey.

Though the protocol isn't right for every SMA child, Bach said he believes physicians shouldn't play God and should at least let parents know a management plan exists.

"They think the children's quality of life is too poor," said Bach.

Bach said it's not a physicians' right to decide if hooking up children to ventilators isn't good quality of life.

Bach said he has 85 patients, and 15 to 20 of them are 5 years old. Four to five are older than 7 and the oldest is 91/2. More than half are older than age 2.

The children have also been found to be extremely intelligent, he said, because the only part of the body that functions properly is their brain. He believes that has led them to challenge it in different ways.

Dr. Scot Bateman, director of the pediatric intensive care unit at Boston Medical Center, said he believes families should be allowed to make their own decisions about treatment options for their children.

Not long ago, Boston Medical Center didn't offer Bach's protocol as an option for kids with SMA Type 1.

Bateman said he recently was presented with two cases of families with SMA children. He offered them the choice, and one chose to follow Bach's protocol. At least they had the choice, he said.

"I am committed to providing family-centered care and every option available," he said. "I don't think it's for everybody. I also think it's important for me to be objective about that."

Bateman, who is also affiliated with Children's Hospital in Boston, said he is speaking with physicians there about instituting the protocol.

The McAdamses don't believe their daughter is suffering. If they thought she was, they said, they would rethink what they're doing to keep her alive. They said as long as Skyler wants to be with them, they'll continue to follow Bach's protocol.

They see the smile on Skyler's face and how happy she is watching her favorite videos.

"Our lives have completely been changed forever," said Kim. "We decided in our life we wouldn't have it any other way. We can't imagine life without Skyler. Our life is our life and we love it."

The Powells also say they couldn't imagine not trying every avenue to keep their daughter alive. She's happy watching "Sesame Street" videos and going outside.

Recently, a photographer visited Gilly to take her picture. She smiled broadly at the camera. For Rex and Tine, that's proof enough of quality of life.

"I wouldn't be able to live with myself to let her go without trying," said Rex. "Mostly what it is is just praying for a cure. We're hoping she's healthy enough when it comes."


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