American Kidney Fund Expands Rare Disease Initiatives with Education and Awareness Campaign About Fabry Disease
FOR IMMEDIATE RELEASE
Campaign explores Fabry disease as a cause of unexplained chronic kidney disease and empowers people diagnosed with Fabry to educate family members about genetic link
ROCKVILLE, Md. (September 29, 2020)—Recognizing the unmet needs of the Fabry disease community, the American Kidney Fund (AKF) today announced an education and awareness campaign to increase visibility of Fabry disease and encourage chronic kidney disease (CKD) patients who do not know the underlying cause of their kidney disease to get tested for Fabry disease. The campaign was made possible through a partnership with Sanofi Genzyme, which has been committed to supporting the rare disease community for more than 35 years.
Fabry disease, a rare genetic disorder diagnosed in approximately 1 in 40,000 people, is caused by a mutation of the GLA gene, which results in decreased production of an enzyme that breaks down a fatty substance called globotriaosylceramide, or GL-3. This leads to a buildup of GL-3 in cells throughout the body. Over time, Fabry disease can lead to CKD and end-stage renal disease (ESRD or kidney failure). It can also cause damage to the heart and brain. Symptoms and severity of Fabry disease can vary from person to person, even within families, and the disease has no cure.
Since Fabry disease is complex and the symptoms are non-uniform, the disease often goes unrecognized or misdiagnosed until patients have life-threatening complications such as stroke, heart attack or kidney failure. With an early diagnosis, doctors can intervene earlier and possibly help delay serious complications.
“For patients with a rare condition like Fabry disease, the road to a diagnosis and proper treatment can be long and painful,” said LaVarne A. Burton, AKF president and CEO. “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.”
AKF’s new Fabry disease campaign uses digital media, including social media, to reach and engage patients. Visitors to AKF’s website will find a set of resources tailored to their health status at KidneyFund.org/fabry.
CKD patients without a Fabry disease diagnosis
Resources for these patients focus on the importance of understanding the root cause of a CKD diagnosis for patients who have not been given a reason for their kidney disease:
- Educational information about getting tested for Fabry disease, so people with CKD with an unknown cause can learn more about Fabry disease.
- A doctor conversation guide to help kidney patients determine the questions they should consider asking their nephrologist about Fabry disease and whether it could be the underlying cause of their unexplained CKD.
While these resources are for men and women alike, AKF will conduct special outreach to women, who were once assumed only to be carriers of Fabry disease. Both men and women are at risk for Fabry disease and can experience its symptoms, though the symptoms may differ between gender, causing mis- or underdiagnosis of Fabry disease in females.
CKD patients who have been diagnosed with Fabry disease
Resources for these CKD patients focus on the importance of those who have already been diagnosed with Fabry disease to consider talking about the disease with their families. Included in these resources is a guide to help patients understand the genetic link in Fabry disease, because on average, five other family members may be affected as well. These resources will provide educational information to Fabry disease patients to explain to their family members the importance of getting tested for Fabry disease to detect it early.
“Sanofi Genzyme has been a trusted partner with the Fabry community by providing support and education for people living with Fabry disease, their caregivers and physicians,” said Sarah Ryan, head of Fabry and MPS I, and Renal Marketing at Sanofi Genzyme. “We are excited to partner with AKF to launch this educational campaign to increase the awareness of Fabry disease within the CKD community. We hope these educational materials will help those who are living with Fabry, as well as those who might be at risk for Fabry.”
About the American Kidney Fund
The American Kidney Fund (AKF) fights kidney disease on all fronts as the nation’s leading kidney nonprofit. AKF works on behalf of the 37 million Americans living with kidney disease, and the millions more at risk, with an unmatched scope of programs that support people wherever they are in their fight against kidney disease—from prevention through transplant. With programs that address early detection, disease management, financial assistance, clinical research, innovation and advocacy, no kidney organization impacts more lives than AKF. AKF is one of the nation’s top-rated nonprofits, investing 97 cents of every donated dollar in programs, and holds the highest 4-Star rating from Charity Navigator and the Platinum Seal of Transparency from GuideStar.