• E-mail
• Print
• Comment
• Font Size
• Digg
• del.icio.us
• Discuss article

"We Just Feel so Blessed" BR Boy First to Get New Drug Treatment for Rare Genetic Disorder

Posted on: Friday, 1 July 2005, 18:00 CDT

Twelve-year-old Nicholas Bosse of Baton Rouge became the first clinical patient in the country Thursday to receive intravenous drug treatment for a rare genetic disorder.

"We just feel so blessed and just overwhelmed," said the boy's mother, Mignon Bosse, in Nicholas' hospital room at Our Lady of the Lake Children's Hospital.

"There's really no way to describe it," she added. "We've just waited so long."

The treatment had previously been used only in experimental settings. Dr. David Hill of The Baton Rouge Clinic, Nicholas' pediatrician, said Nicholas would have to receive treatments once a week, "as long as they're helping, for the rest of his life."

The treatments are not a cure, Hill said, but should either help stop or significantly slow the progression of the disorder.

Nicholas and his brother, Luke, were diagnosed with Maroteaux- Lamy syndrome, commonly referred to as MPS Type VI, when Nicholas was only 3 and his brother 4.

Maroteaux-Lamy syndrome is an inherited disorder caused by an enzyme deficiency that prevents the body from breaking down and discarding complex carbohydrates.

Although the boys' parents don't have the disorder, they both carry the recessive gene, hospital staff said.

Some of the symptoms include short stature, corneal clouding, small, irregular, widely spaced teeth, difficulty breathing, skeletal abnormalities and low tolerance for physical activity.

Nicholas' doctor said the disorder is extremely rare, with only about 1,100 patients worldwide.

The long road to Thursday's treatment began when Nicholas' pediatrician heard a heart murmur in 1996. Both Nicholas and Luke had been treated for recurring sinus problems and earaches. They both had clouding of their corneas and delayed growth.

The pediatrician referred Nicholas to a cardiologist and radiologist. A geneticist at Emory University diagnosed the disorder in both boys.

At the time, bone marrow treatments were the only option, although scientists were beginning to study how to replace the enzyme missing in Maroteaux-Lamy patients.

Nicholas, now a sixth-grade student at St. George School, underwent two bone marrow transplants, but his body rejected them.

To prepare his body to receive the bone marrow transplants, the boy underwent full-body radiation followed by chemotherapy.

After two failed transplant attempts, the family was out of options and Nicholas' symptoms worsened.

Nicholas' brother, Luke, now 13, received a successful bone marrow treatment that stopped the progression of the disorder, said the boys' father, Richard Bosse.

Nicholas, however, needed several more surgeries to correct the alignment of his knees and to repair his deformed hip sockets. He also had six ear surgeries to install tubes, and he had his tonsils removed.

As a result of the radiation, Nicholas also needed two eye surgeries to correct cataracts.

Three years ago, BioMarin Pharmaceutical Inc., a California biotech company, began studying the first enzyme replacement therapy for the syndrome.

When BioMarin announced June 1 that the U.S. Food and Drug Administration had approved the drug, Naglazyme, as the first drug approved for Maroteaux-Lamy, the Bosses were waiting.

On Thursday, Nicholas compared his treatment to being the first person in outer space.

"I think it's pretty cool," he said. He said he was warned that the medication has side effects, including itching, rashes, headaches and vomiting.

But after a couple of weeks of treatments, he said he hoped he would be strong enough to start playing sports.

"All my friends are interested in baseball, so I think I'm going to try," Nicholas said.

Late Thursday afternoon, hospital spokeswoman Elizabeth Rizzo said Nicholas' four-hour treatment had gone well. After an hour of observation, he was scheduled to be released from the hospital and sent home.

Dr. Roberta Vicari, medical director of OLOL's Children's Hospital, said she had heard several weeks ago that a child needed a special infusion.

The director was asked if she thought the hospital could handle the procedure.

"This family shouldn't have to travel," Vicari said. "That was my thought."

"I guess I really didn't realize this was the first child" to receive the treatment, she said.

Vicari said she hoped that keeping the family close to home for the procedure would minimize the trauma.

"I think it makes a statement to this community," she said. "If you value children, you make these things happen."

Source: Advocate; Baton Rouge, La.

More News in this Category