FOX 47 - Health News
7-month-old Lucy Jean Zahn is a beautiful, smiley little girl. She also has spinal muscular atrophy -- a genetic disorder. About 1 in 6,000 babies are born with it.
The disorder happens when motor neurons of the brain and spinal cord stop functioning, and eventually die. These critical cells relay electrical and chemical messages to muscle cells. Without them, muscles can not function, and become smaller and weaker.
"This disorder is very rare, but she was born with it," said Mary Schroth, M.D., pediatrician at American Family Children's Hospital, and Lucy's doctor.
"She also has lost the ability to swallow, so she has a tube we feed her thru."
"She gets fed five times a day, thru a g-tube, it takes 45 minutes," said mother Barb Zahn. "In between we do physical therapy. She has a gym at home. We do stretches and everything."
And because she can not swallow, Lucy needs her mouth suctioned several times a day.
Otherwise mucus and saliva could choke her. Then there's the cough-assist machine which forces air in and out of her lungs to keep them clear, and a breathing mask she wears at night to keep oxygen flowing.
Lucy will never be able to sit up on her own, support her head, or use her legs. It's tough and grueling, for baby lucy and her parents -- Barb and Noah.
"She pretty much has to lay there most of the day, and really her only enjoyment is when she gets picked up and bounced," Noah said.
But there's cause for hope -- stem cell research.
Scientists have already discovered the gene responsible for SMA, the protein it makes, and a back-up gene that makes the same protein. Many scientists believe SMA has a greater chance of treatment or cure than any other genetic disease.
"The hope with stem cells is that we'll be able to inject cells that would become new ones and would rejuvenate those muscles," Dr. Schroth said.
These developments take money -- by some estimates, $20 million to $30 million dollars a year in research. For the Zahn family, money that could bring miracles.
Said Noah, "With proper funding this disease can be gone. So, Lucy and all the other kids out there with SMA won't have to go thru this and will live long, happy, fulfilling lives."
Dr. Schroth said without round-the-clock care, most babies die before age 2.
But with treatment, babies with SMA are living into well into school age years.
Lucy's Hope for a Cure:
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