Kathi’s Hope
"I feel blessed to be living with all my support and love. I am hoping gene therapy can help."
Friends of the community
Friends showing their support for APBD community by wearing stripes!
The Orphan Disease Center Awards Two Research Grants for Adult Polyglucosan Body Disease (APBD)
The APBD Research Foundation and the Orphan Disease Center, part of the Perelman School of Medicine at the University of Pennsylvania, are pleased to announce the recent winners of two ‘Million Dollar Bike Ride’ research grants. These important research grants will [Read More]
Congratulations from Disorder: The Rare Disease Film Festival 2020
We are honored to have been chosen to participate in this year’s Rare Disease Film Festival to take place May 17th and 18th in New York City*. There were more than a dozen sponsors in 2019, including NORD, Global Genes, [Read More]
Pedaling for Progress in APBD Research
The APBD community said, “Let’s Roll!” to the Penn Medicine Orphan Disease Center’s Million Dollar Bike Ride for rare disease research again this year. Our 33-member team, the “Tour de Friends,” participated from locations all over the country in their neighborhoods and in [Read More]
Leading Scientists and Physicians in Neurology Report on Research Progress at 13th Foundation Scientific Advisory Board Meeting
Leading Scientists and Physicians in Neurology Report on Research Progress at 13th Foundation Scientific Advisory Board Meeting The Foundation’s Scientific Advisory Board (SAB) Meeting held on May 5, 2019 brought together an international research team to discuss the latest advances [Read More]
Foundation Interacts with Neurologists at American Academy of Neurology Meeting
Foundation Interacts with Neurologists at American Academy of Neurology Meeting For the first time, the APBD Research Foundation had an exhibit booth at the American Academy of Neurology (AAN) meeting held this past May in Philadelphia. Each year the AAN [Read More]
New APBD Brochures Available
New APBD Brochures Available The APBD Research Foundation is proud to announce that we have two updated brochures available online and in print. The physician's booklet gives a detailed overview of APBD for medical professionals, while the general information brochure [Read More]
David in Maryland
Current Age: 73 Onset of Symptoms: ~50 Age at Diagnosis: 63 "In 2011 I was diagnosed with a rare genetic disease called Adult Polyglucosan Body Disease (APBD). This diagnosis was made about 13 years after I first experienced symptoms [Read More]
Chuck in Oregon
Current Age: 67 Onset of Symptoms: 40's Age at Diagnosis: 60 "I was in my 40’s. The strange problem began with some tingling at the end of one toe. I padded my foot so I could continue the running [Read More]
Robert in Florida
Robert, in the black shirt, pictured with the Weiss brothers - Michael, Emil, the current president of the APBD Research Foundation, and Gregory, the founder and past president. Current Age: 63 Onset of Symptoms: 48 Age at Diagnosis: 55 "Nine [Read More]
Yvonne in the Netherlands
Current Age: 59 Symptoms onset: 40 “I am APBD patient. I have known my proper diagnose for 3 years now. Before they thought that I had Hereditary Motor and Sensory Neuropathy: HMSN type II. I am the only one [Read More]
Lori in Florida
Current Age: 60 Symptoms onset: ~40 “At approximately age 40 I started to feel different, I wasn’t sure what it was. I had some fatigue, some balance issues, but I kind of ignored it. I had a bad back, [Read More]
Alma in California
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]
Paul in Calgary
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]
Kathi in Florida
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]
Sheila in Minnesota
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]
Ronson in Hawaii
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]
Penn Medicine Orphan Disease Center Awards Two Research Grants
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]
Andrew in New York
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]