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
Our eye-catching T-Shirts, totes and mugs feature the Bach 2 Bowie logo from the Ghostly Gala, our annual Los Angeles-based event to raise awareness and funds to fight FSH muscular dystrophy, one of the most common hereditary muscle-weakening diseases. Just as music unites us, so does our care and concern for the health and well being of individuals and families affected by FSHD. Net proceeds support the FSH Society.
Deadline March 30. A minimum of 25 orders must be placed to trigger production. Your credit card will not be charged until then.
Order your Bach 2 Bowie items here.
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: email@example.com.
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
Barbara A. Chin (1945-2016)
We at the FSH Society were deeply moved and inspired to receive yesterday a magnificent bequest of $50,000 from the Barbara A. Chin Trust. This gift will enable the Society to fund work that Barbara cared deeply about: education and support for people with FSH muscular dystrophy, like herself and her late son Jimmie, and research toward treatments and a cure.
Barbara and her husband Jim, who serves on the Society’s Board of Directors, have supported the Society not only financially but through countless hours of volunteer service. Barbara changed the lives of many patients and families through her peer counseling. The entire FSHD community owes her so much.
Barbara’s bequest helps ensure that future generations will enjoy lives free of the burdens of this disease. Individuals and families even of modest means can leave a powerful legacy by including the FSH Society in their will or estate plans. Continue reading