Author Archives: Kathryn Puzzanghera

Our San Francisco Concert and Patient Meeting is right around the corner!

Join us for our annual San Francisco Concert and Conference, given in memory of Joyce Hakansson.

Don’t miss our FSHD Family Day Conference and Songs in the Key of Steven Blier benefit concert on Saturday, July 15, at San Francisco’s Jewish Cultural Center. This is the Bay Area’s premier FSHD networking and advocacy event! Our conference provides an exceptional opportunity to hear from pre-eminent FSHD researchers including Peter Jones, PhD, and John Day, MD PhD, about clinical trials and cutting-edge research. There will also be a wealth of “news you can use” about physical therapy, respiratory health, FSHD care standards, orthotics, and navigating the legal and insurance systems.

Following the conference, stay on for our annual benefit concert, a magical evening showcasing the esteemed pianist and song meister Steven Blier, joined by rising stars Amanda Lynn Bottoms and Dimitri Katotakis. You will enjoy a delicious dinner and dazzling silent and live auctions, presided over by our master of ceremonies, Emmy Award winning radio & TV personality Liam Mayclem, best known as the host of EYE ON THE BAY on KPIX 5 and  as “The Foodie Chap.” 

Important deadlines:

Location:
Jewish Community Center of San Francisco

3200 California Street
San Francisco, CA 94118

Disclaimer:This is not a program of the JCCSF. The views expressed are those of the FSH Society and/or its affiliates and guests.

 

The Moving Story of George Pollock’s quest to Race Across America

Board member George Pollock, who is racing across America this June to raise awareness and funds for FSHD, was featured in his high school’s magazine.  In the article, George discusses what gave him the idea to participate in the race, what keeps him up at night worrying, and what he hopes to come out of the race.  Read it here.

Source: Perspectives Spring 2017.

2017 Donor Impact Report is here!

“In this life-changing storm, it feels good to have someone like you reach out to us so quickly and competently.” – Alex and AC Hoffmann, parents

When my mother, Carol, was diagnosed with facioscapulohumeral muscular dystrophy (FSHD) in the late 1950s, she was told she had only five years to live. As appalling as we find this today, knowing that most people with FSHD will live a normal lifespan, back then most physicians knew next to nothing about the condition.

Five years passed, and Carol noticed she was still very much alive. Years later, when the FSH Society was founded, it became part of our mission to make sure no patient ever goes through a similar experience. At the FSH Society, we researched facts about FSHD and provided accurate information, validated by our own experience as patients. For years, Carol was the voice on the phone for all who sought help and comfort. My mother passed away in 2012, but her spirit lives on in the Society’s mission to inform and empower all of us with FSHD. Continue reading

World FSHD T-shirts are here!

World FSHD Day is right around the corner and we know you want to be ready to raiseWorld FSHD Day t-shirt awareness.  The Society’s World FSHD Day t-shirts are here in the official color: orange.  Get into the spirit of World FSHD Day however you can!  Get creative!  Paint your nails orange, put up orange lights near your house, participate in our orange slice selfie campaign, use orange chalk to draw the World FSHD Day logo on your driveway! Dress up your friends in the official t-shirt and do a flash mob at the mall! The possibilities are endless.  Share whatever you do to mark the day with us on our Facebook page, Twitter, and Instagram, using #WorldFSHDday. Unite with FSH Society members all over the world as we raise awareness about Facioscapulohumeral Muscular Dystrophy.  Buy your t-shirt here!

 

Picture of Trisha Sprayberry

My Boston Adventure: traveling solo with my wheelchair

Written by Trisha Lynn Sprayberry
Las Vegas, Nevada

My adventure began late Wednesday night, November 9, 2016. My fiancé, Erin, had dropped me off at the airport. With my suitcase in hand and a kiss to send me on my way, I was headed to Boston on a red-eye flight. I was attending my first patient conference, hosted by the FSH Society, and their inaugural #CureFSHD gala. It was at the grand Westin Copley Place Hotel in Boston, Massachusetts.

Continue reading

Accessibility hacks, mobility aids, and tips (Part 2 of 3)

Written by Paul Shay
Groton, Massachusetts

Grab Bars. In conjunction with my half-steps, we added a conventional grab bar in the doorway to our garage. My wife came up with the idea of using a six-inch, black wrought iron drawer pull in the doorway in our house that contains the step from the entry area to the main level. It works very well, and it looks much less obtrusive and “institutional” than a standard grab bar.

For our shower, we purchased a couple of 12-inch suction cup-mount grab bars and installed them on the walls. They are intended only for assisting in stepping into and out of the shower, and for help with balance―they can’t bear your full body weight. The best thing about them is their portability, thanks to the suction cup-mounting system. They fit handily into a suitcase and make it possible to use hotel rooms that lack installed mobility aids in conjunction with:

Folding Toilet Frame. Essentially a portable set of armchair-like padded rails, this has proven to be one of our best purchases. It is fully height adjustable and fits behind the seat of any commode without mounting hardware. We have been able to toss it in the trunk and take off on trips without having to make an ADA-compliant room reservation.

Stairlift. By far our largest purchase to date has been the installation of a stairlift in our home. With our master bedroom and my office on the second floor, access was becoming a serious issue. We were able to buy a gently used unit with a factory warranty directly from Stannah for $4,300 (including the use of an Angie’s List coupon). While that is not an insubstantial amount, it beat having to move! The unit has a battery backup feature in case of a power failure, and remote controls that allow the chair to tote bulky/heavy objects up and down the stairs

Intriguing research on tyrosine kinase inhibition as a potential therapy for FSHD: Sunitinib rescues muscle cells’ ability to develop

Written by Jim Albert
Eldersburg, Maryland

 

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

Update on Clinical Trial A083-02: a Phase 2 Clinical Study of ACE-083 in FSHD

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 Spring Watch is out!

The FSH Society is pleased to announce their Watch Newsletter for Spring 2017. Featured in the Watch are articles about

  • FSH March 2017 Watch CoverHighlights 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.

Mom and Daughter with FSHD featured in Muscular Dystrophy News!

Diane and Lexi PappasTwo 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.