Cord Blood Stem Cell Transplant Helps Child Recover From Rare Illness

Jan. 13--ASHLAND -- Three years ago, Patti Cuddihee-Barner signed a form allowing doctors to perform a risky procedure that would take her 1-year-old daughter to the brink of death.

"They told us, I'm so sorry, but we have to have you sign this piece of paper that says you realize this treatment could kill her,' " Cuddihee-Barner said. "It was like the worst nightmare I could imagine."

Alana Barner, now 4, suffers from a rare and often fatal disease called Hurler's syndrome. The inherited condition occurs when children lack a key enzyme in every cell of the body. Life expectancy for children with the disease is less than 10 years.

For Cuddihee-Barner, an Ashland veterinarian, and husband Bart Barner, who works for the Boone County Public Works Department, the choice was a simple one. They agreed to a procedure using a trial drug and transplanted stem cells from a donor umbilical cord, believing it was their daughter's only chance.

"We had two choices," Cuddihee-Barner said. "Either we do nothing and watch her die slowly, become mentally retarded, slip into a coma and basically choke to death. Or we try this, and it could kill her. But if it doesn't, she has a chance to live a somewhat normal life."

It all started three days before Alana's first birthday in November 2004 when a pediatrician detected a heart murmur during a "well baby checkup." The murmur was faint, however, and Alana's parents were told not to worry.

But Cuddihee-Barner was troubled by other signs. Her infant couldn't swallow food. The child's head was a bit larger than normal. The bridge of her nose was a little too flat, and her forehead protruded a bit. The anxious mother used her own stethoscope to listen to Alana's heart and heard the organ struggling. "I about flipped," she said.

The Barners took Alana to University Hospital cardiologist Guy Carter, who instantly recognized in the baby's face the tell-tale features of Hurler's syndrome. Her symptoms also fit.

Hurler's children lack an enzyme that breaks down sulphates in the body. The sulphates build up, swelling their cells. Doctors told the family that the tips of Alana's heart valves were thick and swollen, causing blood to flow backward and cause a heart murmur. Alana couldn't swallow because her lymph glands were swollen, another sign of Hurler's.

The diagnosis devastated the family.