Written by Jim Albert
A cancer drug has been shown to potentially rescue some of the damaging effects of DUX4, the gene implicated in FSH muscular dystrophy. The laboratory of Peter Zammit, PhD, Randall Division of Cell and Molecular Biophysics, King’s College London, United Kingdom, in collaboration with Robert Knight, PhD, of the Department of Craniofacial Development and Stem Cell Biology at King’s, has published the results of its research on the activity of an FDA-approved drug, sunitinib, as having potential therapeutic activity for FSH muscular dystrophy (FSHD). Continue reading
The FSH Society has a long history of partnering with biotech and pharmaceutical companies to facilitate recruitment of patients and families for focus groups, provide patient input to clinical outcome measures, and participation in clinical trials. The Society also assists companies by providing connections, insights and scientific information in the research, therapeutic and clinical areas. For the ongoing trial of ACE-083, the FSH Society has worked with the drug’s developer, Acceleron Pharma, to better understand how FSHD affects patients through a survey (see story here) as well as to educate patients about the process of enrolling in the clinical trial. In response to the high degree of interest in the ACE-083 trial, Acceleron has worked with the FSH Society to provide the following update and FAQ. We thank Acceleron for the company’s commitment to patient education. Continue reading
The FSH Society is pleased to announce their Watch Newsletter for Spring 2017. Featured in the Watch are articles about
- Highlights from the FSH Society’s 2016 International Research Conference (page 1)
- Young Hollywood comes out in support of the Los Angeles Ghostly Gala (cover story)
- New FSHD family cell lines being released for research after 30 years in limbo (page 3)
- Cognitive-Behavioral Therapy and exercise’s ability to slow muscle degeneration (page 4)
- Team FSHD Cycling’s Race Across America (page 15)
- How to find Free Money, from our Development Officer, Beth Johnston, in her advice column “Ask Beth” (page 5)
- A cancer drug that might point the way toward a treatment for FSHD (page 6)
- Accessibility hacks, mobility aids, and tips (page 8)
- Two FSHD mouse models (pages 12 and 17)
And much more! To read the full Watch, click here.
Two of our members, Diane and Lexi Pappas, were featured in Muscular Dystrophy News, sharing their struggles about living with FSHD. Diane is Lexi’s mother and the two live in Massachusetts. Lexi shares both the difficulty she had about opening up about her disease and the sense of liberation she has gained from raising awareness: “It’s actually really freeing, knowing that all these people know about my disability. It means I don’t have to hide it anymore. The more awareness I can spread, the more research we can get for the FSH Society.”
Diane says this condition has made the two of them closer through their shared experience: “My daughter has actually inspired me to be more open about our disease and she is definitely braver than I ever was growing up.” Both Diane and Lexi talk about attending the FSH Society’s patient conference last November and the challenges of living with FSHD. For the whole story, read here.
Written by Paul Shay
I am one of the lucky, late-onset FSHers: diagnosed at age 57, now 71. As my progression has been relatively slow over those 14 years, I have incorporated a number of adaptive devices and techniques that I can share with you. Since my wife and I are still working, we have been fortunate enough to have the resources to try out a number of products.
As I am mostly affected in my shoulders, biceps, and quads, my issues revolve primarily around climbing stairs, reaching high and low, and getting up from a seated position.
For those challenges, here are a number of things and tricks I’ve found useful: Continue reading
by June Kinoshita
During the month of June of this year, the FSHD community will enjoy the thrill of having one of its own lead an eight-person team in the Race Across America (RAAM), a bicycle race from Oceanside, California, to Annapolis, Maryland. The team, recruited by George Pollock, plans to compete in the Open Relay Division. The team expects to complete the race in under seven days and cover more than 450 miles a day.
The team has a personal connection to the disease. Pollock has FSHD. He started to have muscle weakness in his lower right leg while in his late twenties. Ten years later, when he experienced muscle weakness in his left leg, he was finally diagnosed with FSHD. Fortunately for him, the disease is progressing slowly. He was recently elected to the Board of Directors of the FSH Society and has made a commitment to promote awareness to improve diagnosis, support patients, and raise money to fund the Society’s mission. Continue reading
Written by Beth Johnston, Development Officer at the FSH Society
When my husband, Jeff, was diagnosed with FSHD in 2001 (after years of wondering what was going on with his body), we couldn’t pronounce the disease, let alone understand what it all meant for our family. I discovered the FSH Society several years later (thank goodness) after moving from Denver to New York – and began the journey of discovery and hope.
Fast forward 16 years, 2 kids later, and we are back in Denver. One thing that has kept me hopeful and sane during these years is the camaraderie of patients and their families and friends – all working together to raise funds, raise awareness, and share helpful information with one another. Continue reading
Johns Hopkins and the Kennedy Krieger Institute are currently recruiting for two studies! Volunteering for studies like this helps provide researchers with the information they need to provide better treatments, understand the mechanisms of the disease, and search for a cure.
For Family Members (no travel necessary!):
The Johns Hopkins Hospital and the Kennedy Krieger Institute are looking for first-degree relatives of FSHD patients ages 35 and older who do not currently show symptoms. Volunteers will be asked to give a blood draw, which can be performed at any local lab. The blood draw, the genetic test, and shipping will be covered by the study.
Interested individuals should contact Pegah Dehghan: email@example.com.
Study Protocol Number: NA-00019985.
For Patients: Continue reading
The FSH Society is looking forward to seeing you!
If you live in the New England area or even just happen to be visiting, we’d love to have you stop by our office on March 7, 2017, between 5 and 7pm for our Spring Open House!
We’re very excited to show you our new office space. We have made lots of improvements with our move: cabinets for all the brochures we send you, a fridge that’s larger than the microwave, a conference room with a projector so we can talk to Beth in Colorado, and full desks for Kate and Robyn who were previously working off folding tables. This new space is part of a new chapter for the Society, as we strive to grow as an organization to better serve you and reach our goal of finding a cure for FSHD. Continue reading
In 2014, a Dutch team reported that aerobic exercise training (AET) and cognitive behavioral therapy (CBT) decreased fatigue and improved the quality of life significantly in FSHD patients. Now, the same group has published a study demonstrating that not only did patients given AET or CBT feel more energized and active, but that their muscles degenerated more slowly than in patients who received standard care.
Strikingly, the effect was largest in the CBT group. CBT often focuses on how your thoughts can influence your behaviors and the choices you make. It is often used to treat patients with chronic illness to improve their functioning in their daily life. Continue reading