SMA is the number one genetic killer of children under the age of two. It is a group of inherited and sometimes fatal diseases that destroy the nerves controlling voluntary movement such as crawling, walking, head and neck control, and swallowing. Every day, at least two children are born or diagnosed with SMA and within the first two years of life, one of them die. This disease affects 1 in every 6,000 live childbirths. SMA has no age or ethnic preference and 1 in 40 people are carriers of the SMA gene. Families of SMA funds research, provides patients and family support and information, loans equipment to patients, and sponsors educational conferences and support groups.
Families of SMA is a 100% volunteer not for profit organization. A number of significant research breakthroughs have occurred as a result of the funding provided by Families of SMA including mapping and cloning the gene responsible for SMA, identifying the gene protein, and developing carrier testing, allowing couples to identify their risks before they conceive. In addition, an international compilation of genetic histories of families with SMA was sponsored at the University of Indiana, and supporting research has been done to create an SMA mouse model, which will lead to the testing of various treatments including gene therapy.
In addition, Families of SMA has initiated and supports the collaboration of scientists from around the world through the North American Spinal Muscular Atrophy Research Group. Familes of SMA also maintains an equipment pool with equipment ranging from suction machines to electric wheelchairs, which are available at no cost to members on an as needed loan basis.
In 1998, members of Families of SMA undertook their first “Climb for a Cure.” This awareness and fund raising event involved families climbing 12,575 feet to raise awareness. In addition, the organization’s annual conference is the only place for families and professionals to meet together to discuss the latest information and treatments for SMA. Families of SMA is responsible for including language in both the Senate and House appropriation bills for 1998, encouraging NIH to focus on SMA. This is the only national organization that specifically provides assistance to families in the form of equipment loans, education, conferences, emotional support and research.
In 1998, Families of SMA funded more than $1.2 million in research grants. These funds were not raised through corporate sponsorships or large scale events, they were raised through grass roots efforts, such as: a bicycle ride held by parents in Martinez, California; a gold tournament organized by a family in South Charleston, West Virginia; and a craft show in Belle Mead, New Jersey.
As mentioned, Families of SMA is a 100% volunteer effort. Families of SMA was founded in 1984, by a group of concerned parents, today this group is a major force, with 12 chapters across the United States and abroad and more than 2,500 member families. This group is determined to work until there is a cure for SMA.