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World FSHD Day

June 20, 2016
This June 20th is the first-ever World FSHD Day, a day designated by an international alliance of advocacy groups to raise awareness of facioscapulohumeral muscular dystrophy (FSHD). Participants from across the globe will come together over social media and in various activities to raise awareness for FSHD, one of the most prevalent forms of muscular dystrophy.

PrintFew have heard of FSHD. It’s a genetic condition that weakens muscles, typically starting in the face, shoulder blades, biceps, legs and abdomen, spreading gradually to almost any skeletal muscle. It can rob people of the ability to smile, close eyelids, feed themselves, stand up from a toilet, or walk. Around 20-25 percent will need a wheelchair. It can impair breathing, with lethal results. While symptoms can be present in childhood, most patients are diagnosed as teenagers or young adults. FSHD is life-shortening for some, but many live a long life, despite significant disability.

This year also marks a milestone for the FSH Society. Founded in 1991, the FSH Society is now 25 years old. This small charity has transformed the landscape for FSHD. Twenty-five years ago, a person with FSHD had no hot-line to call. There was virtually no funding for research—nor researchers to study the disease. The genetics of FSHD was a black box, and patients did not see even the glimmer of hope that the future would be any different.

Today, patients can surf for a wealth of information. There are Facebook communities with thousands of members. The FSH Society launched many of the field’s research leaders through seed grants that led to the discovery of the genetic cause. It initiated legislation mandating federal action on all of the muscular dystrophies with the Muscular Dystrophy Community Assistance, Research, and Education Act of 2001. NIH funding for FSHD ballooned from nearly non-existent to $8.4 million in 2015.

These are impressive achievements, and biotechs and pharmas have taken note. Three years ago, aTyr Pharma initiated the first industry-sponsored clinical trial focused on FSHD. Acceleron plans to launch a clinical trial later in 2016. More than a dozen companies now have programs in FSHD.

In another milestone, this spring the FSH Society awarded a $121,000 grant to establish the FSHD Clinical Trial Research Network to expedite the development of new therapies for FSHD. The award funds four institutions that are piloting the network: the University of Rochester, Kennedy Krieger Institute, Ohio State University, and the University of Kansas, all established centers with expertise in FSHD and neuromuscular clinical trials.

The FSHD field has reached an inflection point. The hard work of the past 25 years is starting to pay off, but much remains to be done. Perhaps because FSHD isn’t a childhood killer like Duchenne muscular dystrophy—the primary focus for decades of Muscular Dystrophy Association telethons—FSHD has remained in the shadows, although it affects an estimated 1 in 8,000 people, or some 870,000 worldwide.

This means that every small town will likely have a few people who are affected. We may even have a friend or co-worker with FSHD without knowing. In part this is because people with FSHD don’t wish to be defined—or discriminated against—by their condition. They are skilled at hiding their muscle loss and disability beneath loose clothing and by clever adaptations.

Front-line physicians also need awareness-raising. Too often, patients say that a doctor sent them home with words to the effect that they were “lucky” they didn’t have a worse condition, and to just manage the best they can. Little wonder that so many patients become disengaged.

This has to change. Patients, families, and clinicians today need to know that ongoing drug discovery efforts cannot succeed without greater patient engagement. They should be urged to sign up for alerts from the FSH Society (or its counterparts in other countries) and join a patient registry, such as the national FSHD registry at the University of Rochester.

World FSHD Day begins to tackle these issues by raising public awareness for FSHD on a scale never before attempted. By sharing the logo and links, people will learn about the disease and where to find more information. This special day will also alert physicians so they can better diagnose and assist their patients.

This June 20th, everyone will be asked to share the World FSHD Day logo over social media. Raising awareness will let patients and families know that they are not alone and will help mobilize public action to ensure a better future for everyone affected by this disease.

To learn more, visit the official World FSHD Day website. To host your own event, check out the event toolkitSpread the word on social media by using the hashtags #WorldFSHD and #CureFSHD.

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