By Patricia V. Wood
President, founder NBIA Disorders Association
Special to The Movement Disorder Society
The NBIA Disorders Association was born because of words no parent wants to hear: Take your 3-year-old home to die. There's nothing we can do.
I didn't know it at the time, but other parents around the world were hearing those same words because their children, too, had the same, rare disorder. Like me, they were determined not to give up. They were desperate. They wanted answers. And they wanted hope.
In 1989 I finally had a name for that devastating disorder - Hallervorden-Spatz syndrome. But it wasn't until 1996 that I learned there was a researcher interested in the syndrome, named for Drs. Julius Hallervorden and Hugo Spatz, two Nazi-era doctors. I immediately took my daughter to meet Dr. Susan Hayflick at the Oregon Health & Science University in Portland. We decided to work together to create an association to unite families affected by NBIA. In 2002 the name of the disorder was changed to Neurodegeneration with Brain Iron Accumulation to disassociate it from the two dishonorable doctors, and in 2003 the organization name was changed from Hallervorden-Spatz Syndrome Association to its present one.
The mission of our non-profit organization based in El Cajon, Calif. is to educate the public and raise awareness of NBIA, raise money for research and provide emotional support to NBIA affected individuals and families.
That family support is crucial because NBIA is so rare. All of us who participate in the association remember what it was like to have a loved one diagnosed. You never feel more shattered or more alone. The disorder affects just one to three people out of 1 million. We believe approximately 500 people in the world are living with NBIA, though there may be more that have not been diagnosed or are misdiagnosed.
Researchers are investigating possible treatments, but sadly we lose children and adults to this disorder on a regular basis as patients progressively weaken.
In 14 years, our organization has grown in ways none of us could have imagined. We've faced many challenges, one of which rallied parents like no other: the potential loss of the lab of our premier researcher, Dr. Hayflick.
Last July, we learned she had lost renewed funding from the National Institutes of Health, despite contributing to the discovery of two of the four NBIA genes and other significant work in the field. She told the NBIA Disorders Association she feared she would have to close her lab by the end of the year without finding a new source of funding. We asked her how much she needed to stay open and she said $250,000 would enable her to continue for the next two years.
Our parents united to save the Hayflick lab, one of only two in the United States dedicated full-time to NBIA research. They held bake sales, golf tournaments and other fundraisers in their communities. To date, their efforts have raised $168,342, with an additional $50,000 contributed by OHSU. We are raising the final $31,658 to reach our goal of funding the lab through 2011, at which time we hope federal aid will once again be available.
In addition, we have had some success in making our voices heard in Washington in the past year. We are meeting with members of Congress to discuss support for NBIA research funding. We received encouragement that our requests will be represented when the Appropriations Bill for fiscal year 2011 is considered.
Our association's board, working closely with our Scientific & Medical Advisory Board, has awarded 15 research grants totaling $450,000 in the past eight years. These are $30,000 seed grants to help scientists compile preliminary research information so that they can obtain further funding for larger studies from a corporate sponsor or a federal agency such as the NIH.
We have helped sponsor two scientific workshops on NBIA in 2000 and 2005 and are collaborating with another rare disorder, neurocanthocytosis, to hold a symposium this October to discuss what is currently known about NA and NBIA at the cellular level. Scientists at the symposium hope to determine research priorities for both disorders, decide what resources are needed to further that work, and discuss ways to generate collaborations between those working in related disciplines.
Our association collaborates with partner organizations in Italy (AISNAF) and Germany (Hoffnungsbaum e.V.), both of which promote NBIA research. We are encouraging NBIA families in other countries to establish additional sister non-profits.
We also hold family conferences every other year in which families from around the world meet with scientists and each other to discuss therapies and the latest research. We have held five to date, with another planned for May 2011. This has helped us create a tight knit community. The researchers also have bonded with the families they are helping.
Our website, www.NBIAdisorders.org, has an energetic listserv in English and Spanish, and we have various programs to help families connect with each other and with practioners.
We are proud of our progress but we know we have much more to do. My daughter just celebrated her 24th birthday, and I believe I can say for myself and all of the other parents who have joined in the fight for a cure: We are not giving up.
About Patricia V. Wood
Patricia V. Wood of El Cajon, California, is president and founder of the NBIA Disorders Association. She has a 24 year-old daughter, Kimberly, who was diagnosed with NBIA in 1989. Wood has undergraduate degrees in Community Services and Distribution & Transportation Management. She also studied for an MBA at San Diego State University until her daughter fell ill. Before devoting herself to the organization, she was a business owner for 11 years.