By Heather McCarron / Staff Writer
Friday, April 25, 2003
NORFOLK - Connor Reilly can never seem to get enough of watching the movie "Toy Story."
"It always makes him laugh," says his mom, Karen, sitting in the den of her Norfolk home with Connor laying nearby on his own miniature sofa in front of the TV.
Connor's big brothers, Timothy, 3, and Owen, 2, make him laugh, too, with their dancing and singing, she says. And like any little brother, Connor looks at his big brothers with clear adoration.
Connor has his favorite stuffed animals and toys and he loves to watch videos and have books read to him. The big tangerine orange bear on one of his videos makes him grin with delight.
It's all pretty much typical 1-year-old stuff.
Not so typical are the nurse who comes to help care for Connor five days a week, the bi-level positive airway pressure device (BiPap), the in-exsufflator or CoughAssist machine, the spirometer and oximeter that all help monitor and assist Connor's respiratory functions, and the feeding tube that brings nutrition directly to Connor's stomach.
All of these are parts of Connor's every day routine, just as much as the videos, toys, stuffed animals, books and entertainment courtesy of his brothers.
Connor, who just marked his first birthday on March 4 and is the inspiration behind a 5K walk/run planned in town on May 4, has Spinal Muscular Atrophy, or SMA. The walk/run in his honor is intended to raise money to help get families of children with SMA to a conference and rally in Washington, D.C. this June, where they will press Congress for more federal support of SMA research.
SMA is a little known genetic neuromuscular disorder, currently with no cure, that has rendered Connor's muscles so weak that he cannot swallow, lift his head, sit up, or move his arms and legs on his own.
He requires frequent suctioning of his saliva and respiratory secretions, and is always on a monitor to measure his oxygen saturation level and heart rate. The BiPap machine helps his breathing while he sleeps, and the in-exsufflator does his coughing for him when needed, loosening the secretions from his lungs that they don't have the strength to expel adequately by themselves.
"He has type 1 SMA, which is the worst form," says Karen, from whom Connor inherited his striking slate blue eyes that, along with facial expressions, say so much to his mom that his vocal chords won't communicate just yet.
While it is recognized as the leading genetic cause of death among infants, SMA is not generally well known and few hospitals anywhere offer treatment, the Reillys say.
"It's really amazing how little is known about it in the medical community," says Connor's dad, Bill, who joins his wife and other parents of children with SMA in a quest to raise awareness about the disorder, besides hoping for a boost for SMA research.
One in 40 people carries the defective gene that causes SMA, though it can only be transmitted if both parents carry the gene. In that case, they have a one in four chance of having a child born with the disorder, which affects one in 6,000 babies.
Though muscle weakness is a big challenge, the most serious challenge comes from respiratory complications. What might be a common cold to most people can rapidly escalate to pneumonia and respiratory failure for children with SMA.
"If his respiratory problems were addressed, that would be great," says Bill. "That's what kills the kids. The biggest problems are respiratory."
"It's very dangerous for him to get a respiratory infection," concurs Lila Coverstone, a nurse from TLC Nursing Agency in Framingham who helps care for Connor 8 a.m. to 4 p.m. Monday through Friday.
Parents like Karen and Bill Reilly have all been told the same daunting odds - that their children with SMA will be lucky to reach their second birthdays. But the Reillys aren't willing to settle for that, and neither should other parents who find themselves in the same situation, they say.
There is innovative, noninvasive treatment like what Connor receives that, while not currently supported by many physicians, has definitely helped their youngest son, the Reillys say. It was developed by Dr. John Bach, a leading physician working with pediatric neuromuscular disorders, who the couple found while doing SMA research following their son's diagnosis just weeks after his birth.
There is also a potential cure. Biomedical researchers at Ohio State University, says Karen, believe they are close to finding the cure. They have identified the gene that causes the disease and they have been able to cure mice afflicted with SMA.
The problem, say the Reillys, is that federal funding for SMA research is practically nonexistent.
"This is the most underfunded (for research) of all the genetic diseases," says Bill, "yet they've made some progress in getting closer to a cure."
More adequate funding, the Reillys say, is needed to reach the goal.
Enter the national Families of SMA Conference and Rally planned in Washington D.C. this June.
"We want Congress to see these kids, talk with these kids and realize the tremendous impact of the disease. We are hoping that they see value in these kids' faces and increase funding today in hope that a cure can be found soon," says Karen.
She explains that she got the idea to hold the upcoming 5K event after an announcement about the D.C. rally and conference and she heard about other parents of SMA children saying they wish they could go but that they couldn't afford it. While the Reillys won't attend the conference themselves, they wanted to help other parents get there to deliver their message.
The Reillys had never heard of SMA before Connor came along. For the first few weeks of his life, Connor appeared perfectly healthy. But Karen and Bill began to notice something was not quite right when Connor was about 4 weeks old.
"He wasn't moving around like the other two boys had," says Karen. "We thought at first it was a spinal cord injury because of the way he was born with the cord around his neck."
DNA tests revealed Connor had Type 1 SMA.
"Oh, we were devastated," says Karen, recalling the diagnosis.
Devastated, yes, but not defeated.
The couple immediately began to seek information about their son's disorder and became associated with the SMA Support organization. They heard about Dr. Bach and his innovative treatment, which focuses on improving breathing and coughing function and reducing the chances of dangerous respiratory infections. It was a ray of hope when the Reillys had been given little hope, and they took Connor to see Dr. Bach.
The Reillys say they've seen improvement in Connor since he began his treatment last fall, and they're grateful for the help they get from Coverstone.
Connor's nurse spends time each day massaging and bending his limbs to stimulate his muscles and help improve his range of motion. Since she began working with Connor when he was 6 months old, she says he has shown improvement.
"I can tell you he has more movement now than he did," she says, gently bending and unbending one of Connor's legs. "In the past couple of weeks he's started moving his feet."
He also rotates his wrists, says his mom, who has heard other SMA parents say their children seem to gain strength as they approach 2 years of age.
Coverstone says the disorder doesn't affect brain functions at all.
"Connor's got an extremely normal intellectual function, perhaps even a little beyond normal," she says, grinning at Connor as he makes a small giggle-like sound at a favorite video playing on the TV. "There's nothing wrong with his brain."
Just before Connor was born, Karen made the decision to work at home and she continues doing so. She tests software for IBM and says Bill's company has also been accommodating.
"On Tuesdays and Thursdays Bill works at home and I take the other two boys to do things," she says. "On the weekends we take turns running errands."
Over the past year, there have been some very tense moments in the Reilly household. The Reillys haven't had to call for emergency help in a few months, since starting Connor's treatment and putting him on a special diet. But last year there were several 911 calls. September was the most difficult time for them so far, they say.
"We had 911 calls a couple of times a week because Connor was just miserable. He was a sick, sick baby," says Karen.
"We had to call them six times. That was the worst stretch," says Bill. "Part of it now is that we're getting better at dealing with it and as he's getting older he communicates with us better."
The Reillys can't say enough nice things about Norfolk's police and fire personnel. Last September, says Karen, Police Sgt. Robert Shannon was the first responder to a 911 call she'd made after Connor stopped breathing.
"He came up and went totally by the book with the chest compressions," she recalls. "Between us we got Connor back. It was really scary because he turned blue and then white. Sgt. Shannon told me it was the first time he had ever performed CPR."
Since then, members of the EMT staff have visited the Reillys home to learn about Connor's treatment and how to operate the machines used to assist him.
"There's also a special bag on the ambulance with Connor's name on it," says Karen. "It has a lot of the g-tubes and just special supplies that we use every day with Connor."
She says the fire and police personnel drop by from time to time with toys for Connor. Two members of the fire department also volunteered to plow and sand the Reillys' steep driveway this winter so that it would be clear in case of an emergency with Connor.
"They really have gone above and beyond," Karen says.
"They're just great," agrees Bill. "I can't say enough about them."
It goes without saying that the last year has had challenges that go far beyond the typical adjustments of having a new baby around. Even so, the Reillys enjoy every moment they have together as a family. Connor's arrival has definitely enhanced that togetherness.
"I think probably the biggest change in our lives is that we're home more," says Karen. "We don't pick up and just run out. As a result, we have a lot of family time and I think that's a good thing."
And Connor's big brothers adore their little sibling as much as Connor adores them.
"They just love him," says Karen.
She relates how she was recently reading a story to her son, Timothy.
"In the end when the baby (in the story) was put in bed, Timothy said to me the baby couldn't go to sleep because he had no mask on. I just thought that was so sweet. To them, all the stuff we do with Connor is just a way of life."