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Transforming the landscape for FSHD

Join with thousands of patients, family members and friends in supporting research on FSH muscular dystrophy. The FSH Society helped launch a worldwide scientific effort, and today we stand on the brink of discovering the first treatments. With big opportunities come big challenges, to raise awareness, rally patients and families to volunteer for research, and empower scientists to stake their careers on finding a cure. If you haven’t done so already, please take a minute to register as a member. We can’t win this fight without knowing who and where FSHD patients and families are.

Reflecting on FSHDselfies

MiaArchuleta

Mia Archuleta’s #FSHDselfies

By Mia Archuleta, Granbury, Texas

I have been thinking about people wondering exactly how the FSHselfies have brought awareness to FSH dystrophy. Here are just a few examples of my journey since posting them.

I attend a Bible study group that I absolutely love. In the year that I have been there, everyone has welcomed me with open arms. It was a little odd because no one really saw me as “the girl in the chair.” They have always seen me as Mia. I tend to be an open book, but the subject of FSHD never really came up. No one felt that they couldn’t ask me why I was in a chair, they just never thought it was necessary because it is just a part of me, like a pair of eye glasses, or hearing aids or any other assistive equipment.

When I began posting selfies, a lady at Bible study noticed that it concerned FSHD. She asked me about it and through the course of conversation, she realized that FSHD was exactly what one of her previous students was living with. She mentioned the girl’s mother and over time I lost track of the name and forgot to do a Facebook search. Just this last week the mother, Angela Jackson was added to this group!! What a small world. We are trying to arrange a lunch date, waiting for the rain to stop so we don’t all end up a soppy mess. I cannot tell you how excited I am that with the post of a simple selfie, I will be making contact with another FSHD family. We live in a small town and it’s encouraging to know that someone else will understand the challenges unique to FSHD. Continue reading

FSH Watch Winter 2015 issue is out

Highlights include:fshd2015WINTER_WATCH

  • Summary of our 2014 FSHD Connect Conference held in Boston.
  • Senator Elizabeth Warren addresses the 2014 FSHD Connect Conference.
  • The essential role epigenetics plays in FSHD.
  • Meet the new FSH Society staff members.
  • The effects of DUX4 expression on muscle cells.
  • The FSH Society’s 2014 International Research Meeting.
  • Antioxidant supplement trial results.
  • New FSHD clinical trials and studies.

Download and read the entire issue here.

Remembering Carol Perez

Carol Perez and her husband Charles

Carol Perez and her husband Charles

We note the three-year anniversary of Carol Anne Perez’s death at age 76, on February 3, 2012, from respiratory complications of FSHD. Many patients remember Carol as the person on the other end of the phone line when they would call the FSH Society for help and a sympathetic ear.

She changed many people’s lives. As one such patient attested: “If it wasn’t for Carol, and if it wasn’t for the FSH Society, I truly believe I would not be the person I am today: I’ve had a full career; I have a loving wife, a beautiful son, and a certain type of light that shines out from me, given to me by a beautiful woman who had a spark in her eyes and fire in her soul.”

Born and raised in Queens, New York, Carol earned a Master’s in Education from Northeastern University.  She was an authority on vocational rehabilitation and leaves behind a legacy of assisting countless numbers of people with disability and disease to lead better lives. Carol sought to see the best in every individual and was tireless in her battle against injustice to the ill and handicapped. She served the FSH Society as Secretary of the Board and Executive Director, and was also Area Director for the Massachusetts Rehabilitation Commission.  She lived her final days with dignity in her own home surrounded by loved ones.

Those wishing to honor Carol’s memory may make a donation to the FSH Society here.

University of Kansas seeks volunteers for study

EIM device is noninvasive and painless.

EIM device is noninvasive and painless.

FSHD patients are needed for a research study for: The Relationship of Electrical Impedance Myography to Muscle Structure and Function in Facioscapulohumeral Muscular Dystrophy (FSHD). The study is directed by Jeffrey Statland, MD, of the University of Kansas Medical School.

Recent genetic advances in the understanding of FSHD have identified potential future targets for therapy. Consequently, it is important that to have appropriate tools in place for use in FSHD clinical trials. This study will evaluate a new measure of muscle structure, electrical impedance myography (EIM). Continue reading

UC Davis study is seeking volunteers

Screen Shot 2015-02-07 at 8.05.39 PMWe have been notified that researchers at the UC Davis Medical School are seeking FSHD patients to volunteer for a study. Read here about why participating in research is so important. Your contribution of time and effort is essential to the successful development of treatments for FSHD. Here is information we received from the study coordinator:

Study title: Kinect UO1: Development of Novel Upper Extremity Outcome Measures Using 3-D Vision Technology The purpose of this study is to develop new outcome measures for patients with muscular dystrophy. These outcome measures will focus on upper arm movement and what we call range of motion or reachable workspace. Ultimately our goal is to develop these new techniques to aid in the development of new therapies and create outcome measures for clinical trials. Continue reading

Our team is growing!

DianeBurke

Diane Burke

KRISTIN-DUQUETTE_SquareCrop

Kristin Duquette

The FSH Society team is expanding, with two new staff members, Diane Burke and Kristin Duquette, taking key positions to enable the organization to meet critical challenges in the coming years.

In December 2014, Diane Burke joined as Director of Finance and Administration, stepping into the sizable void left by the retirements of the FSH Society’s founding Treasurer Bill Michael and his successor Chris Stenmon.

A graduate of Bentley University, Diane is an experienced finance professional with a diverse background in nonprofits, manufacturing, R&D, and public accounting. Diane has expertise in all aspects of financial accounting, reporting and analysis, and strategic planning. Continue reading

aTyr Announces First FSHD Clinical Trial of Resolaris™

aTyrLogoSan Diego-based biotech company aTyr Pharma announced today its first clinical trial in FSHD patients of its investigational new drug Resolaris™. The Phase 1b/2 study is a double-blind, placebo-controlled, multiple ascending dose trial in up to 44 FSHD patients at multiple sites in the European Union.  The exploratory trial is designed to evaluate safety, tolerability, pharmacokinetics and the biological activity of Resolaris™ in adult patients with FSHD.

Resolaris™ is a first-in-class intravenous protein therapeutic derived from a naturally occurring protein released in vitro by human skeletal muscle cells.  aTyr believes Resolaris™ will provide therapeutic benefit to patients with rare myopathies with an immune component characterized by excessive immune cell involvement.

Read more about the trial here. UPDATE: aTyr Pharma Receives EMA Orphan Drug Designation for Resolaris™ in FSHD.

The FSH Society collaborated with aTyr on recruiting volunteers for a blood biomarker study. You can learn more about that here.

Meet Kyle Bennett, snowboarder

Kyle Bennett is a 23 year old college student in Sacramento, California, who has FSH muscular dystrophy. An outstanding baseball player when he was younger, he had to give that up. And then he discovered snowboarding. “I knew I’d found something that will change my life forever,” he says. His dream is to show younger kids with FSHD that their love of sport doesn’t have to end with their diagnosis. This is his story.

A recap of 2014 research highlights

Check out our press release “A Look Back: FSHD Research Advances in 2014,” which summarizes some important advances in our understanding of medical as well as fundamental scientific issues. These include new data on reduced lung capacity in FSHD patients, the first high-throughput drug screen for potential treatments, clues as to why muscles are targeted by the genetic mechanism of the disease, and promising new mouse models. Read it all here.

Welcome to our new website!

We hope you like it. We have migrated and updated the valuable content from our previous website and added new features, such as a blog (like this post, always visible on the homepage), and a navigation system designed to make it easier for you to find the wealth of information on this site.

Our new website is also more interactive. You can join for free. You can subscribe to receive email alerts about our latest blog posts. You can post comments, share information with others via email, Twitter, Facebook and other social media channels. Please make use of these sharing tools to help educate others and spread awareness.

We have tested everything as far as possible pre-launch, but there may be a few glitches now that we are live. Please report any problems you come across by using our Contact form. Thank you!!

Special thanks to Chel Wolverton, Chris Penn and the team at SHIFT Communications for all their hard work on our new site.