Couple fights genetic disorder in daughter’s honorWritten by David Steffen | | firstname.lastname@example.org
Photos of Hannah Campbell adorn the living room in her parents’ Toledo home, but a neurological disorder will forever keep her smiling face frozen in time.
“It’s still hard now to realize this has all happened to us,” said Donna Campbell, Hannah’s mother. “We have friends that were having their first child around same time, and now they’re watching their children grow, go camping and all those family milestones. What can we do after this experience that came out of nowhere?”
Hannah was Matt and Donna Campbell’s first child. She was born on Jan. 18, 2008, with no apparent complications. Photos reveal a smiling baby, but she was born with a genetic defect called spinal muscular atrophy (SMA).
“Everything was fine until we went to her two-month well check up,” Donna said. “They were concerned because she had very low muscle tone in her legs and wasn’t able to lift or move her legs.”
Doctors ran tests for SMA, but advised the Campbells to avoid researching the disorder. It would likely scare them, doctors said.
“A few weeks passed by, and I started to read it online,” Donna said. “Babies with SMA usually don’t make it to their first birthday. It started to sound more and more like Hannah. We were really scared at that point.”
Doctors relayed the test results by phone. The Campbells worked their best to make sure Hannah was as comfortable as possible. She needed constant supervision and was connected to a variety of medical devices. Even simple trips were a challenge. Hannah’s medical equipment had to go with her.
“You couldn’t just pack up and go to Grandma’s for the day, and you couldn’t go shopping or do things that people take for granted with their children,” Matt said.
A plethora of devices allowed Hannah to eat and clear her respiratory passages. Without them, she was unable to eat or breathe. She was vulnerable to the most basic of illnesses.
The Campbells worked tirelessly to ensure their daughter’s comfort, but SMA overpowered Hannah on Oct. 18, 2008.
“As much as you try, you’re never going to get away from the inevitable,” Donna said.
Brenda Wong is associate professor of pediatrics and child neurology at Cincinnati Children’s Hospital Medical Center. She worked with Hannah.
Wong said there’s a one in 10,000 chance of a child inheriting SMA. There are three types, she said, but most are type one- severe. About 80 percent don’t live past age 1, and 90 percent beyond age 2.
She said SMA is a genetic disorder that affects motor neuron cells in the spinal cord. They control muscle movement, but the motor neuron cells in SMA-positive children degenerate, she said.
There has been significant progress in the past decade and scientists are working on a cure, Wong said.
“Certainly, where SMA is concerned, it’s really getting to the point where people are talking about potent stem cell therapy trials,” she said. “That’s the hope of all these families — that there be a cure.”
The Campbells are campaigning for awareness and a cure. According to www.preventsma.org, one in 40 people is a SMA carrier. The organization encourages all parents to test.
“That’s the hard part — trying to gain awareness,” Matt said. “Nobody knows what SMA is, unless you’re immediately affected. My main objective is to raise awareness about it.”
Parents can undergo genetic testing to determine if they are SMA carriers. If both parents are, there is a 25 percent chance the child will develop the disorder. Wong said there are a few options for SMA-positive parents.
“They have to weigh whether 25 percent is a big risk to take,” she said.
SMA-positive parents could elect pregnancy and do antenatal tests. Depending on their personal views, parents could opt to terminate the pregnancy should the child test positive. They may also choose in-vitro fertilization or adopt.
The Campbells are active in the organization Families of SMA. They plan to begin a charity in honor of their daughter called “Books for Hannah.” They will add “Bear of my Heart” by Joanne Ryder to Families of SMA’s care package, sent to parents of babies diagnosed with SMA.
Wong said she is impressed by the Campbells’ efforts.
“I think it’s great that they remember Hannah,” she said. “I think it’s great they think about other kids and that they’re working for a cure.”
The Campbells hope to raise awareness for parents and work for a cure for future generations. Hannah is their inspiration, they said.
“Take a look at your left,” Matt said, pointing to a smiling photo of his daughter. “That face is priceless right there. I felt blindsided when we found out. It’s just like the wind’s taken out of you. That’s my inspiration. As a parent that had to and still deals with it — this is to boost awareness.”