From tweeting disease facts to taking photos with licence plates, supporters worldwide are participating in International Gaucher Disease Awareness Month, set aside each October to bring global attention to the disorder and needs of the patient community.
Gaucher disease, a disorder that can affect many organs and tissues, occurs in one in 50,000 to 100,000 people.
“Let’s get the public to start thinking about Gaucher and other rare diseases — to think about what it really means to have a genetic disorder that is debilitating, life threatening, and, depending on the type, either doesn’t have a treatment at all or has a treatment that no one can afford without the right health insurance,” the Gaucher Community Alliance (GCA) states in its fall newsletter.
“To think about what it means for our families, our finances, and our ability to lead a normal life. By raising awareness, let’s create more choices for ourselves and our families,” the GCA added.
The alliance, which provides peer-to-peer support for patients, is presenting a North American campaign called Gaucher Community Wheels to mark Awareness Month. In addition to raising awareness, the effort seeks to help the Gaucher community, and to raise funds for patients and families.
Campaign participants are asked to take a photo of themselves and the Awareness Month car magnet provided by the GCA, with the U.S. state on the license plate in view. The goal is to have photos from every state and Canadian province to demonstrate the pervasiveness of Gaucher families. Go here to upload a photo.
For its part, the Lysosomal and Rare Disorders Research and Treatment Center (LDRTC) is marking the month by highlighting the importance of early Gaucher diagnosis, and optimal and timely medical care.
“Most primary care physicians are not familiar with this rare disorder and how to recognize its various presentations,” an LDRTC webpage states. “It is vital that you see a specialist, expert in Gaucher disease, who will guide you and your physician through your journey with this disorder. The expert will also monitor your health, and provide therapeutic options.”
The LDRTC is also providing information about Gaucher types, as well as facts about diagnosis and treatment. Its tweet about Awareness events includes a video urging people who suspect they have Gaucher to get tested. The journey to diagnosis typically takes about 10 years.
Avrobio — a company that is developing gene therapies for Gaucher disease, Fabry disease, and cystinosis — also tweeted its support for Awareness Month efforts: “We honor the patients, families and caregivers in the Gaucher community as we raise awareness for this disease.”
Rare Diseases India also joined the global efforts by tweeting information about disease facts and symptoms.
To mark International Gaucher Day on Oct. 1, genetic testing company Centogene launched an art contest called #WEAREGAUCHER. Gaucher community members are asked to create artwork — a digital photo, painting, or collage, for example — of something important to them, and then to title it and share it on social media. The public will vote on submissions, which are due Oct. 30. Centogene may use the works in various venues and publications to spotlight the community. Go here to submit an entry.
