Think what life would be like for families running from\ doctor to doctor asking what it is that causes my child who has one or more of the following symptoms: clumsiness and difficulty controlling the body and speech problems. The family would also be dealing with the child’s night blindness and a loss of peripheral vision, caused by degeneration of the retina. Some individuals eventually lose the ability to walk, talk, or chew food and become totally dependent on others for all their needs.Symptoms vary greatly from one person to the next, partly because genes can differ. Different mutations within a gene can also cause varying forms of the disease. Neurodegerneration with Brain Iron Accumulation (NBIA) is a rare, inherited, neurological disorder. It has been known as Hallervorden-Spatz Syndrome in the past. The most common symptom is involuntary muscle cramping, called dystonia.
NBIA affects one in 1,000,000 individuals. Four families in Minnesota are known to be affected by NBIA, with a few hundred families worldwide. For these families, there is fear that the one lab doing research on NBIA may be closing due to lack of funding.
Dr. Susan Hayflick, professor of molecular and medical genetics, pediatrics and neurology at Oregon Health and Science University is considered the world’s leading expert on NBIA. Her lab has been primarily responsible for finding two major NBIA genes called PANK2 and PLA2G6, in 2003 and 2006 respectively.
For Hayflick, her research is a way of life. She has dedicated the past 17 years to finding a cure for NBIA disorders and helping families dealing with NBIA. A minimum of $250,000.00 is what it will take for the research to continue for the next two years. That figure doesn’t include a salary for Hayflick.
The genetic research being done will help with the diagnosing of NBIA. If the research is able to continue, ways may be found to do early detection during prenatal checkups.
Methods to slow the progression if not cure the disorder earlier in the stage of the disorder are also being sought. In March, the National Institutes of Health (NIH) offered approximately $400 million in challenge grants to researchers as part of an additional $10.4 billion designated to NIH with stimulus funds.
The institutes were flooded with 18,000applications. Only 2% could be awarded grants. Hayflick learned in late June that her latest application for an NIH research challenge grant was rejected. She is concerned that a second request will suffer the same fate later this month.
The families that have loved ones with NBIA worry about the loss of the research and treatments. Hayflick’s research has allowed families therelief and knowledge of knowing what the disorder is and to help plan a course of treatment to help relieve symptoms. Without funding they and other families will lose the opportunities available.
U.S. Senators Jeff Merkley and Ron Wyden of Oregon submitted a letter to the Senate Appropriations Committee seeking funding for Hayflick’s lab. NBIA families immediately started a letter-writing campaign asking the committee to approve the funding. For more info, go to www.NBIAdisorders.org
