The brown-haired boy frolics like most 2-year-olds, squealing, jumping on his rocking horse, causing the usual havoc and making it nearly impossible at times for his parents to carry on a conversation.
Not long ago such childhood pleasures would have been all but impossible for Sawyer Leestma. The Huntington Beach boy was born with the rare genetic condition mucopolysaccharidosis. It can ravage the entire body, leading to mental retardation, blindness, joint problems and kidney, liver and heart disease.
Also known as MPS 1, or Hurler syndrome, the disease affects one in 100,000 people. "It's one of those things they teach in medical school and test on the boards and you never see again," said Dr. Elizabeth O'Connell, Sawyer's pediatrician.
It occurs when the body lacks the enzyme to break down sugar molecules.
Sawyer's treatment took place over two months at Children's Hospital of Orange County. Conventional treatment calls for a bone marrow transplant, which enables the body to produce the missing enzyme.
To give Sawyer a head start while he waited for a donor, doctors began treating him with weekly intravenous enzyme therapy, making him, his doctors say, the first patient to be treated with that combination.
The intravenous treatment alone is insufficient because it does not enter the brain and prevent mental retardation. It is also expensive: $80,000 to $100,000 a year.
Dr. Charles Peters, a Hurler syndrome expert at the University of Minnesota School of Medicine, said enzyme therapy makes the transplant safer by strengthening the patient and reducing lung complications.
"But only time will tell us in terms of greater numbers of patients being treated this way," he said.
Before the bone marrow transplant, Sawyer was lethargic and developmentally slow. He suffered hernias, a spine deformity, an enlarged liver and frequent upper respiratory and ear infections. Hair grew on his forehead and on his back.
Dr. Jose Abdenur, medical director of metabolic disorders at CHOC, who was in charge of Sawyer's treatment, said the boy is recovering.
"He cannot perhaps run and jump exactly like other children his age, but otherwise -- intellectually, verbally -- he's doing perfect," Abdenur said.
The disease thickened his lips and broadened his nose, but his features are softening, said his parents, Michele and Charles Leestma. They said the disease has also left their son with an enlarged mitral valve in his heart, and his vision is impaired -- they liken it to looking through a dirty window.
