By BECKY WALDROP
With big blue eyes and golden hair, Noah weighed 7 pounds 5 ounces and was 211/2 inches long. He spent his first night sleeping in the arms of his daddy.
But Chad and Cathy Shinn's happiness would soon turn to concern for their first-born son. By the time he was 5 weeks old, the Corvallis parents could tell something was wrong with their baby.
Noah's legs flopped outward, and his movements seemed slow. His belly became enlarged. Cathy and Chad called the Corvallis Clinic, and they were told to bring Noah in right away.
When they arrived at the clinic, Dr. Enju Metzler, a pediatrician on staff, examined Noah and called for tests when she saw signs of muscular degeneration. Noah's breathing became labored as his oxygen levels dipped dangerously low.
Doctors told the Shinns that Noah would need to be taken to Doernbecher Children's Hospital in Portland right away and ordered a LifeFlight helicopter. Cathy and Chad drove to the hospital, where they met with the chief resident.
Dr. Brahm Goldstein, a critical care pediatrician, took them into a private room.
"Noah has a very severe neuromuscular disease," Goldstein said. "The prognosis is not good."
The baby had a genetic disease, spinal muscular atrophy.
"He said Noah would be lucky to live to Christmas," said Cathy. "I think I slept for five minutes that night. I thought that I might wake up, and it would all be a dream, but it wasn't."
Over his remaining weeks, they spent all but five hours with him. The family celebrated Christmas early to make sure Noah could join the celebration. When the day came, Noah refused to go down for a nap. He was too interested in all the visitors. Noah watched everyone, making eye contact rare in an infant so young. If someone looked away, he would fuss until they returned his gaze.
At the end of the day, he was exhausted. He went to sleep that night and never woke up again.
On Dec. 28, Noah stopped breathing.
In the wake of their loss, the Shinns have joined another local family in trying to make a difference for other children who have spinal muscular atrophy.
Sunday, they're holding an open house at Sweet's BBQ. There will be an auction, an information table and live music. They hope to raise awareness about the No. 1 genetic killer of children under the age of 2.
"We had to do something," said Brian Egan, Noah's grandfather. "Giving our own time and money wasn't enough."
Noah's grandmother, Angie Egan, reaches out to families coping with the disease through e-mail. She hopes to raise $5,000 for SMA this year.
"I do it for my sanity, to do something, to keep me busy and to honor Noah," Angie said. "We've waited for a grandchild for years. We never dreamt that we'd have one and lose one so quickly. I cried buckets of tears remembering Noah."
Before Noah was diagnosed, the Shinns and Egans had heard nothing about the disease. When they told friends and family about Noah's condition, only one person knew what it was. The genetic disease is one of the 40 forms of muscular dystrophy, but very few people know about it.
Sharing their story, although painful, is part of the healing process for Cathy and Chad. The Shinns also hope to raise awareness about the disease.
"Anything we can do to put a stop to this disease," Cathy said.
"Once people are educated, they can help," Chad agreed.
One in 40 people are carriers of spinal muscular atrophy. They're not affected by the disease, which they carry as a recessive gene. When two people who are carriers have a baby, there is a 25 percent chance the child will have the disease. There's an equal chance the child won't be a carrier, and a 50 percent chance the child will be a carrier but not be afflicted.
Spinal muscular atrophy occurs when one cell of a chromosome is missing - in this case, the survivor motor neuron. That's the connection between the spine and the outer muscles. As motor signals disappear, children lose the ability to move their arms and legs. Eventually, they can't suck or swallow. Their chests don't develop, and the stomach muscles do the work to breathe. Eventually, they cannot use their diaphragm, and they stop breathing.
Cathy and Chad had no idea they were carriers of the disease. There was no history of the disease in either family, and there were no warning signs.
Although there are tests for spinal muscular atrophy, most obstetricians don't recommend them because of the cost. There are many things doctors could check for, but genetic testing is not often covered by insurance, and there is so much to look for.
There are several charities funding research projects that have netted hopeful results for stopping the illness. The Muscular Dystrophy Association, Families of Spinal Muscular Atrophy and Andrew's Buddies are helping scientists looking for a cure. Those organizations also give families without adequate medical insurance lifesaving equipment for children, such as blood oxygen monitors and suction machines.
In January, researchers announced they could stop the disease in utero in mice. Although they couldn't reverse the disease, they could halt its progress. That breakthrough holds promise for people like 2-year-old Sean Wheeler of Corvallis who has a less severe form of the disease that is debilitating but not usually fatal in infancy.
If they can find a way to stop spinal muscular atrophy in humans, children like Sean may not get any worse. New cases, if detected early, could be stopped before the nervous system is damaged.
Across the country, there are benefits being held to raise $2.5 million needed to complete this research project.
Despite the heartache of losing a child, the Shinns wouldn't change a thing, "except having him here with us," Cathy said.
At their home, a wooden box holds pictures of a baby with a feeding tube playing with a balloon. There are snapshots of a little boy with his two favorite Beanie Babies, Fetch the dog and Fleece the sheep. The tiny stuffed animals were his constant companions and helped to hold open his tiny fingers that would otherwise have been clenched shut. They show a child whose bright eyes broadcast his happiness when the muscles in his chin became too weak to smile.
Noah's grandmother, Angie Egan, said her grandson's nursery was declared a no-cry zone. She said her daughter and son-in-law were devoted parents determined to make every moment of Noah's life special.
Still Cathy and Chad wonder if somehow, Noah knew he only had a short time to live.
"He was so very bright, so very alert. He could look right through you," Cathy said. "He was that way from the moment he was born.
"There has to be a reason we were given Noah. He still brings us so much joy."
Becky Waldrop covers youth and education for the Gazette-Times. She can be reached by phone at 758-9510 or by e-mail at firstname.lastname@example.org.
IF YOU GO
WHAT: An event to raise money for spinal muscular atrophy research. Scientists are near a breakthrough in treating the illness, which recently claimed the life of a Corvallis infant.
WHERE: Sweet's BBQ, 225 S.W. Fourth St.
WHEN: Noon to 5 p.m. Sunday
FEATURING: Auctions for donated items, including an autographed Oregon State University Beavers basketball, live music, food and drinks.