Mom finds treatment for junior’s uncommon disease
Paige Castren and Christine Harms
March 30, 2010
Veronica Bonfiglio, junior Brent Bonfiglio’s mother, has possibly found a treatment for her son’s disease, neurodegeneration with brain iron accumulation (NBIA). There supposedly is no known cure for this disease, and most drugs cannot improve the condition because they cannot cross the blood brain barrier and remove the excess iron from the brain. Any other drugs would deprive the body of necessary iron and cause patients to become anemic. The drug Veronica found, Deferiprone, can cross the blood brain barrier.
According to the National Institute of Neurological Disorders and Stroke, NBIA is a “rare, inherited, neurological movement disorder characterized by progressive degeneration of the nervous system.” Some of the symptoms include involuntary muscle contractions and an inability to coordinate movements. These symptoms are caused by an unusually high level of iron in the brain.
Veronica is part of an online support group for people with NBIA. A man in Iceland posted a press release about a drug in France that, although used to treat a different disorder, can cross over the barrier into the brain and help reduce iron levels. After doing research, the Bonfiglios decided to pursue this option.
In order to be able to use the drug in the United States, a doctor needed to make a compassionate use case for Brent to the Food and Drug Administration (FDA) that this drug, Deferiprone, was the only treatment that could help him.
Veronica found a doctor at the Children’s Hospital in Oakland who uses Deferiprone to treat a different disorder. They weighed the risks and benefits and decided it would be best to go through with it. It took a lot of paperwork for the doctor to make a compassionate use case to the FDA as well as at the hospital level.
Brent was the first child in the United States to receive Deferiprone for his condition. He started treatment in November 2007. To date there have been no side-effects. The drug has helped stop the disease from advancing in his body as well as alleviating the current symptoms.
Since taking Deferiprone, Brent has regained more coordination, balance and trunk control.
“These gains can be noticeable in the little things that we take for granted like being able to sit without back support [or] hold a cup without dropping it,” Veronica said.
He is also able to walk better, still with assistance, but with more ease. His speech has become clearer and he is able to use his video game controllers again.
Brent’s case has paved the way for four children to get their own compassionate use permits. A clinical trial will start this spring at Children’s Hospital & Research Center in Oakland with 20 children and teens from across the country.
More information about NBIA and how you can help can be found at www.NBIAdisorders.org.