Reprinted from the Post.

Girl, 2, Defying Disease & Doctors

Janet Merkle with her granddaughter, Emma Lockwood.

By Lia Luz
Post staff reporter

Beth and Kevin Lockwood of Withamsville never heard of Spinal Muscular Atrophy before they learned it might kill their first child, Emma.

Now, they find themselves facing the same terrifying prospect with a second child.

Doctors told them the disease destroys the motor neurons controlling body movements such as crawling, walking, swallowing and breathing.

They also told them there is no cure.

"We were shocked," Beth Lockwood said. "We decided to do everything we could to keep her living."

Spinal Muscular Atrophy is largely unknown and federal funding for research to find a cure for it is limited.

Researchers, nonetheless, believe they are close to finding a cure.

Biomedical researchers at Ohio State University already have identified the gene that causes the disease, and researchers have been able to cure mice afflicted with it.

"They are fairly close to finding a cure in humans. With the necessary funds, they might find it in three years," Lockwood said.

When her daughter was 8 months old, a blood test confirmed that Emma had Type 1 SMA, the  worst form of the disease, where patients are at risk of pulmonary failure.

Doctors said Emma likely wouldn't live to see her second birthday.

The Lockwoods, however, believe Emma's chance of survival is much better today than when she was originally diagnosed. Their daughter turned 2 in December and has been very stable.

"We keep the faith," Lockwood said.

"The Lockwoods have taught me that nothing is impossible," said Brenda Wong, Emma's neurologist at Cincinnati Children's Hospital Medical Center.

"They taught me that the amount of care and dedication makes all the difference."

Emma was the only child currently known to have Type 1 SMA in Greater Cincinnati until her brother, Nicholas, also was diagnosed with the same type of the disease when he was 5 months old.

The Lockwoods noticed he was suffering movement limitations at the age of 3 months.

"We were very upset, but we knew the risks," Lockwood said.

"It wasn't as bad as when we learned about Emma's diagnosis."

SMA is a recessive genetic disease, which means that both parents must be carriers of the gene responsible for it.

Annette Reed of Dublin, whose daughter, Madison, also is affected with Type 1 SMA, believes a cure is on the horizon.

"They have done amazing progress in the last seven years," she said. "They're very hopeful in finding a cure."

Annette and her husband, Carl, created a foundation called Miracle for Madison Fund to raise needed dollars for researchers and an SMA clinic at OSU.

The foundation supports Families of Spinal Muscular Atrophy, an international organization pushing the medical establishment to find a cure for SMA. The organization also provides medical equipment and services for its 13,000 members.

Doctors gave the Reeds the same bad news they gave the Lockwoods. They told them that Madison probably would not live past the age of 2.

But she is now 6.

"The reason why Madison is still living is because of all the things we do to help with the symptoms," her mother said.

Madison receives a variety of therapies and relies on specialized medical equipment to help her breath, swallow, cough and eliminate secretions.

Doctors and speech therapists had told the Reeds that it would be a waste of time to try to teach Madison how to speak. However Madison, who has a home school teacher, can now talk.

"Children with SMA are usually very bright," said Wong.

"Madison is a very happy child. She smiles from the time she wakes up to the time she goes to bed," her mother said.

There is no reason for children afflicted with the disease to live in pain, Lockwood said.

"They can have a happy life. There's no pain associated with the disease," she said.

"Devices, aids and supportive care ensure the patients with a good quality of life," said Wong. "But when they have to go through tracheotomy for permanent ventilation aid, we're not talking about quality of life anymore."

Emma didn't have any serious complications until she was 17 months old and lost her ability to swallow. Like Madison, Emma now uses a ventilation unit with a nasal mask to help her breathe while she sleeps.

Emma and Madison have gone through surgical procedures to insert feeding tubes directly into their stomachs. Lockwood said her daughter is fed manually about every four hours during the day with a special diet, and all night long with the help of a machine.

Emma also has breathing, occupational, physical, swim and speech therapy. "She demands 24-hour care," her mother said.

Emma sees her neurologist every three months for check-ups and pays regular visits to a pediatrician. During the winter season, she gets shots to prevent infections or illnesses.

Other than health care, Emma also requires emotional support and stimulation.

Emma is capable of talking and asks for her toys. But Lockwood said it's hard for Emma to entertain herself since she has very limited arm movement and cannot sit down, hold her neck up, or move her legs.

"We have to play with her, help her pick up stuff," her mother said. "But she tells us what she wants to do, what toys she wants to play with, just like any 2-year-old-child."

"We need families like that," said Wong. "Beth has educated a lot of physicians here in Cincinnati about SMA."

Publication Date: 02-05-2003


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