TAMPA, FLA – The AAKP is pleased to announce it has received a five-year grant from Sanofi Genzyme to continue the Fabry Family Testing & Education Project (FFTEP). This project allows for AAKP to cover the cost of genetic testing for individuals at-risk and families affected by Fabry Disease as well as produce educational resources to help patients and their families understand this condition; learn about available treatment options; and how to best manage their care and the care of their family members. This educational research study is conducted in partnership with Emory Genetic Laboratory, a division of Emory University. The project began in 2007 as a collaborative effort between AAKP, Emory and Genzyme. With the additional funding, the project is scheduled to run through 2021.
Fabry disease is a rare hereditary disorder caused by a faulty gene in the body. Approximately 1 in 40,000 men and 1 in 20,000 women in the United States are affected by Fabry. Because early symptoms of this disease are very nonspecific, individuals affected are often misdiagnosed. The longer the disease goes undiagnosed, the more damage it will do to the kidneys, heart and other organs. Fabry disease is seen in all racial and ethnic groups around the world.
“AAKP is pleased to be able to continue this important project and by covering the cost of testing, we are removing barriers to early detection; allowing patients and their family members at-risk to start treatment in the beginning stages of this disease with less risk of having kidney failure in the future. As an individual who was diagnosed with Polycystic Kidney Disease, another heredity condition, at the age of 16, I understand the importance of identifying family members at-risk for inheriting a genetic disease and intervening as early as possible. I applaud Sanofi Genzyme for their expertise and commitment to the area of rare genetic diseases,” said Paul Conway, AAKP President.
“In addition to testing family members, Emory investigators are learning which family members are more likely to be affected by Fabry disease and what health problems they are having. Health issue information is reported by every person who gets testing through this project. AAKP and Emory’s first joint study will be submitted for publication in the late fall. So far we have learned some interesting information that can help the medical community diagnose this condition,” said Dawn Jacob Laney, MS, CGC, CCRC, Director of the Emory Genetic Clinical Trial Center.
The Fabry Disease Family Testing and Education project is an important step in helping to diagnosis, treat and manage this condition. To learn more about this project and the educational resources available to patients, visit www.aakp.org or contact AAKP at (800) 749-2257. To participate in the free, genetic testing program at Emory, contact their Fabry Center at (404) 778-8518 or (404) 778-8565.
AAKP is a voluntary non-profit organization founded by kidney patients, which for more than 45 years, has been dedicated to improving the quality of life of kidney patients through education, advocacy and the fostering of patient communities. The programs offered by AAKP inform and inspire patients and their families to better understand their condition, adjust more readily to their circumstances, and assume more normal, productive lives in their communities.