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
On February 13, Canadian biotech, Reserverlogix announced that facioscapulohumeral muscular dystrophy (FSHD) is one of two new indications it is pursuing involving its lead drug, apabetalone (RVX-208) which inhibits bromodomain and extra-terminal (BET) epigenetic readers. It mentioned research conducted at Saint Louis University demonstrating apabetalone mediated modulation of important targets in FSHD. The FSH Society funded seminal seed-funds to Dr. Fran Sverdrup at Saint Louis University starting in 2014 to conduct pilot research to study BET proteins as therapeutic targets in FSHD. It is still early days with respect to this research. Dr. Fran Sverdrup in response to inquiries he has received following the Resverlogix press release, along with the desire to start managing patient expectations about the status of BET inhibitors as a potential therapy for FSHD and research required to validate a candidate drug as an effective treatment, has put together the following Q&A to inform our readers about the status of BET inhibitors.
What are BET inhibitors? BET inhibitors are a class of drugs with anti-inflammatory and anti-cancer properties. Although no BET inhibitors are yet approved for use in the US or internationally, there are several clinical trials ongoing in the areas of cancer and cardiovascular disease. These drugs bind to and inhibit Bromodomain and Extra-Terminal motif (BET) proteins BRD2, BRD3, BRD4, and BRDT. Since BET proteins generally bind to active or “open” chromatin and turn on nearby genes, BET inhibitors act to suppress (turn off) genes that are over-expressed in disease settings. 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
The FSH Society is seeking a committed, experienced leader to serve as Chief Executive Officer (CEO). The CEO will lead the Society in meeting its important mission: to serve as a source of information and support for all patients and families with FSHD; to act as a driving force in the development of research directed towards treatment and cure of FSHD; and to act to bring support to patients and research for FSHD through effective engagement of governmental and private sector organizations and entities.
Please review the CEO Position Announcement for further details. If you wish to apply, please send your resume and cover letter to Susan Egmont, Egmont Associates.
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: firstname.lastname@example.org.
Study Protocol Number: NA-00019985.
For Patients: Continue reading
Frank Kolakowski and Manuel Gomez, FSHD advocates extraordinaire, were on hand to represent FSH muscular dystrophy at this year’s National Institutes of Health Rare Disease Day event. Thank you!
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
Newly Formed Facioscapulohumeral Muscular Dystrophy Consortium Aims to Consolidate More than 13 Patient Registries in Effort to Accelerate Research on Rare Disease
BOSTON – (February 22, 2017) – Today the FSH Society, a world leader in combating facioscapulohumeral muscular dystrophy (FSHD), announced that with the FSHD Champions, an international alliance of FSHD patient advocacy organizations, a consensus has been reached to move forward with the vision of an international global FSHD patient registry. The goals of the registry will be to accelerate research to understand and treat FSHD, and empower patients to gain insights from the data about their condition and improve their health and quality of life. Continue reading