Stem cells offer hope for toddler's rare disease

Annabelle Green is two years old. She wakes up at seven in the morning, eats breakfast and then, for 16 hours, she is infused with medication and nutritional supplements. She sings the alphabet and does not cry when her blood is drawn.

Annabelle has Sanfilippo syndrome and, if not for an innovative medical procedure performed at Duke involving stem cells, she would have gradually lost the rest of her hearing, her speech, her mental capacity and her ability to walk. Her long-term outlook is now positive, but without the treatment, it is likely she would not have reached her 10th birthday.

Sanfilippo syndrome, a rare disease diagnosed in less than 100 patients per year, was first discovered in 1963, and until recently there was nothing doctors could do to slow the painful deterioration. Now Dr. Joanne Kurtzberg, professor of medicine at Duke University Medical Center, has developed a procedure that gives hope to the few in need.

Annabelle became the 12th child to receive Kurtzberg's treatment and is slowly recovering--the last five did not survive. The procedure involves destroying all traces of the disease in the patient's bone marrow and immune system, and replacing those diseased cells with healthy, unrelated stem cells from a donor umbilical cord. The hope is that these new cells will become the host's primary source for blood after therapy, a goal not nearly as incendiary as others involving the hot-button issue that stem cells have become.

Sanfilippo is a genetic disorder that occurs when the body fails to produce an enzyme responsible for cutting up used mucopolysacchrides, long sugar molecules with the consistency of glue. These incomplete, broken-down molecules remain stored in cells and can cause significant damage to the body. Symptoms of the syndrome are subtle at first and include restlessness and slowed development, followed by loss of language, mental capacity and the ability to walk.

Duke's Medical Center is the only location with doctors implementing the procedure. Christine Barrietua, Annabelle's grandmother, was initially told that nothing could be done for her granddaughter. Barrietua did not give up, however, and after six months of searching and networking from Boise, Idaho, she finally learned about this therapy.

According to Marjorie Reedy, Annabelle's head fundraiser and campaign manager, Barrietua sold her house in order to help fund the $800,000 procedure, which was also bolstered by Medicaid. "She doesn't take no for an answer," Reedy said.

The Boise community has also supported the family. Through various fundraisers, including a rodeo, they have raised over $175,000 in a city with a population of about 100,000.

"There was this little school in Oregon, a private school where the kids are rather poor. These kids usually raised $1,000 a year so they can go on a field trip," Reedy said. "This year they gave it all to Annabelle and didn't go on their field trip."

The complete results will not be clear until the enzyme from the new stem cells reaches the brain, which will take about five to nine months.

But because doctors diagnosed Annabelle's disease early--when she was ten months old, she was taken to the emergency room for swelling--developmentally, she is only a couple of months behind her age level and has only minimal hearing problems. As long as the child's deterioration slows, Annabelle's mother, Jennifer Loves, will consider the struggle worthwhile.

"The transplant will still be successful if [the progress of her symptoms] flat-lines. I could communicate with her," Loves said. "[The diagnosis] was very disappointing to find out, but it just makes Annabelle special in her own way."