National Tay-Sachs & Allied Diseases Association
A partnership to raise Tay-Sachs awareness
National Tay-Sachs & Allied Diseases Association (NTSAD) is delighted to partner with 21 Below to raise Tay-Sachs awareness. Tay-Sachs is a cruel disease that is always fatal in children and extremely debilitating in adults. NTSAD is committed to empowering affected individuals and families lead life to the fullest while pursuing prevention, treatment and cures for Tay-Sachs and related diseases.
To promote Tay-Sachs awareness and the partnership families directly affected by Tay-Sachs will attend screenings. Most recently Desiree and Carl Hopf attended the 21 Below screening at the AFI Silver Theatre in Silver Springs, MD. Desiree and Carl lost their son Conner to Tay-Sachs on November 26, 2006. Learn more about Conner and his fight against Tay-Sachs at www.connersway.com.
Kim Kubilus the NTSAD Director of Member Services attended a screening of 21 Below at the Newport International Film Festival in Newport, RI. Kim lost two brothers to a disease related to Tay-Sachs and works to honor their memories and legacies by supporting the families of NTSAD.
In many ways Tay-Sachs is a faceless disease because the children die very young without ever saying a word. 21 Below brings a face to the disease and captures the impact on the entire family. Tay-Sachs disease can happen to any family regardless if they are strong and supportive or broken and struggling. It doesn’t happen in a vacuum the disease crashes down on family and affects touches every aspect of their lives.
National Tay-Sachs & Allied Diseases Association helps affected individuals and families lead life to the fullest while pursuing prevention, treatment and cures for these devastating diseases. NTSAD is a 501(c)(3) organization that relies on private philanthropy to sustain its mission to offer hope to those struggling with these diseases worldwide.
What is Tay-Sachs?
It is caused by a missing enzyme (Hex-A) that leads to the build-up of a fatty substance (GM2 ganglioside). This accumulation causes progressive damage to the nerve cells in the brain. It is an inherited disease – both parents must carry the gene in order to have a child with this disease (1 in 4 chance with every pregnancy). Tay-Sachs has three forms: Classic Infantile, Juvenile and Late Onset.
Children with the infantile form appear healthy at birth and progressively lose the ability to crawl, swallow and eventually suffer from breathing difficulties. Many do not live past their fifth birthday. Kids with juvenile onset develop similar symptoms but at different ages which ultimately dictates the severity and the course the diseases takes. Adults with late onset suffer from motor difficulty, slurred speech and sometimes mental illness.
Is there a cure?
Not yet, however, there is very promising research being funded by NTSAD that could provide HOPE to many families.
Can it be prevented?
Yes! All couples, regardless of ethic background or heritage, should seek pre-conception genetic counseling to determine which diseases they are at risk for carrying. The Tay-Sachs can happen to anyone! The gene occurs in 1/250 of the general population, Irish-Americans & British descent are at an increased risk between 1/50 to 1/150 and Ashkenazi Jewish, French Canadians and Louisiana Cajuns are at the highest risk with a carrier rate of 1/27.