According to a press release from the American Kidney Fund (AKF), the organization, which is dedicated to fighting kidney disease, has partnered with the biotech company Sanofi Genzyme in a new campaign dedicated to awareness and education about Fabry disease. This is a rare disease which affects the kidney and other organs. In patients that ae unaware of the underlying cause of their kidney disease symptoms, a test for Fabry disease may be recommended under certain circumstances.
About Fabry Disease
Fabry disease is a rare genetic disorder that primarily affects the heart, skin, and kidneys. As a lysosomal storage disease, it is characterized by a deficiency in the enzyme responsible for processing sphingolipids, which accumulate in the body as a result. The disorder is caused by mutations of the GLA gene. Symptoms include pain (which can affect the extremities, the entire body, or the digestive tract), kidney dysfunction, abnormalities of the heart valve and heart rhythms, fatigue, inability to sweat, and angiokeratomas (small red dots that appear on the skin). Treatments include enzyme replacement therapy, treatments to address organ specific problems, and Galafold. Galafold is effective in roughly 50 percent of patients, and only works for patients with certain types of mutations. Enzyme replacement therapy can help partially halt or reverse disease progression. To learn more about Fabry disease, click here.
The irregular symptoms and and complexity of this illness means that proper diagnosis and detection can be difficult. In fact, some patients aren’t diagnosed until a serious, life-threatening scenario occurs, such as kidney failure, stroke, or heart attack. However, early treatment can prevent these events from happening. That’s why keeping patients informed is critical.
The campaign will use social media and other forms of digital media in order to reach the patient community. President and CEO of the AKF LaVarne A. Burton says:
“This partnership with Sanofi Genzyme allows us to expand our educational materials on Fabry disease, increase awareness of the condition, and empower patients with practical guides they can use when discussing their health with their doctors or with their families.”
The materials include info about the testing process for the illness as well as a conversational template that patients can use when talking with their doctor. Check out the AKF’s Fabry disease resources here.