Current Age: 63Symptoms onset: 56“What began in 2002 with urinary frequency and peripheral neuropathy has progressed to the point where I may hold the unfortunate title of APBD poster child. Flash forward six years, worsened bladder woes, massive fatigue, lack [Read More]
Current Age: 54 Onset of Symptoms: 32 Age at Diagnosis: 54 "Like many other APBD patients, I was misdiagnosed for years with ailments that shared symptoms with APBD but were incorrect. These false starts often meant trials of medications [Read More]
Current Age: 67 Onset of Symptoms: ~50 Age at Diagnosis: 66 "As a young girl I was always very clumsy. I fell often but it seemed to go away as I got older. I was better able to keep my [Read More]
Current Age: 64 Onset of Symptoms: ~57 Age at Diagnosis: ~58 "My life with APBD has changed in countless ways. At home, we have installed an electric stair climber. I can no longer do my housecleaning. I can no [Read More]
Current Age: 44 Symptoms onset: Early 30s “I would say that my story is a story of perseverance. When I was a small child, around age 2 and a half, my parents were told that I had Glycogen Storage [Read More]
The APBD Research Foundation and the Penn Medicine Orphan Disease Center are pleased to announce the two winners of 2018 Million Dollar Bike Ride research grants. These important research grants will be applied to two promising studies that are investigating [Read More]
Current Age: 50 Onset of Symptoms: 38 Age at Diagnosis: 44 "It started as a sudden onset of many symptoms at once, I immediately saw my physician, who sent me to a neurologist. I was given a diagnosis of [Read More]
Or Kakhlon and colleagues screened FDA-approved compounds for those able to reduce GYS activity and polyglucosan accumulation in APBD fibroblasts. Guaiacol emerged as a potential candidate from this screen and improved grip strength and increased lifespan in murine APBD models. [Read More]
The APBD Community said, "Let's Roll!" to the Million Dollar Bike Ride for rare disease research. Some of the 36 members of our "Tour de Friends" team rode bikes on the official course in Philadelphia, and some rode virtually in [Read More]
Robert Zuckerman during filming of Life Through a Lens. | Photo provided Robert Zuckerman has photographed portraits of iconic stars the world over, from David Bowie to Arnold Schwarzenegger. His prolific career slowed — but did not stop [Read More]
Gregory Weiss (1947 - 2018) It is with very deep regret that we inform you of the passing today (June 25, 2018) of Gregory Weiss, Founder and President of APBDRF. Make a Memorial Donation I met Gregory thirteen [Read More]
Dr. Wyatt Yue will introduce the @APBDRF documentary “Life Through a Lens“ at our UK premiere screening at the Oxford International Film Festival on Sunday, May 13th 6pm http://www.oxiff.com/life-through-a-lens
Show biz photographer fights rare genetic disease Despite his rare genetic disease, Robert Zuckerman still delights in his vocation, photography. http://njjewishnews.com/article/37996/hollywood-just-dropped-me#.Wtf5ZiIpDYU
https://www.jewishlinknj.com/monthly-sections/health-link-new/24323-documentary-at-jcc-reelabilities-film-festival-to-shed-light-on-jewish-genetic-disorder
APBDRF Board Member David Epstein has been paired with a 3rd year medical student from the University of Maryland. In a program sponsored by Global Genes®, medical students are paired with rare disease patients in an effort to build the [Read More]
Thank you for your interest in joining the APBD Tour De Friends Team in the University of Pennsylvania’s Million Dollar Bike Ride on May 20 to show your support for rare disease research. There are 7,000 rare diseases & disorders [Read More]
Help us, help you! Dear APBD Patient (with confirmed diagnosis): The Foundation can better target research if we hear from the wide APBD community. Recently, we have heard from some of you on APBD diets, possible new health problems, misdiagnosis [Read More]
THE JEWISH DAILY FORWARD The Benefits of ‘Kindsight’ Read Article: http://blogs.forward.com/the-arty-semite/192725/the-benefits-of-kindsight/#ixzz33fwCE7fM
http://www.hadassahmagazine.org/2018/01/29/celebrating-100th-birthdays/
Greetings from the ODC! Registration for the 2018 5th Annual Million Dollar Bike Ride is now open! Please follow this link to register for the ride, which takes place on Sunday, May 20, 2018. Feel free to share the above [Read More]