On a cloudy May 20 morning, Harriet Saxe rode 12 miles through Philadelphia by bicycle to raise funds and awareness for adult polyglucosan body disease (APBD).
Participating in the fourth annual Million Dollar Bike Ride by the Penn Medicine Orphan Disease Center, Saxe rode with her 12-member team APBD Tour de Friends as one of more than 20 teams, all riding either 12, 33 or 73 miles to raise funds for research grants for various rare diseases.
In three years, the event’s 20-plus teams have raised more than $3.5 million to fund research grants on the diseases they represent, according to the website for the bike ride. Disorders in the 2017 ride included more well-known genetic diseases such as Tay-Sachs or Canavan to metabolic disorders like mucopolysaccharidoses.
The funds are matched dollar for dollar. By the morning of May 18, as Saxe was making final preparations to fly from Portland to Philadelphia — where she and her husband lived before moving to Oregon — for the bike ride, her team had met their goal of $50,000, which will be matched to total $100,000.
This was the second year participating in the bike ride for Saxe, who has a personal connection with the ride’s targeted disease. Her husband, Chuck, now 65, was diagnosed with APDB in his late 40s. Both of his parents as well as an aunt and cousin also had the disease, which Saxe noted was unusual.
APBD is “a rare disorder that appears to affect males and females in equal proportions,” according to rarediseases.org. “Familial clustering is observed in about 30 percent of cases especially among Ashkenazi Jewish populations.”
The recessive disorder affects the nervous system, according to the Adult Polyglucosan Body Disease Research Foundation, for which Saxe is a volunteer and serves on the board of directors. APBD usually occurs later in life and progresses slowly, and affects a person’s ability to walk, speak, think and function normally in a variety of ways.
Saxe’s husband was able to diagnose himself when he noticed he had the same symptoms he saw in his family.
It’s a very specific set of symptoms that Saxe hopes more people — especially the Ashkenazi Jewish population — will learn.
“It’s a miserable set of initials,” she said, as it rhymes and is easy to misunderstand, but “we have turned them into something positive. We use them as a memory tool to help us let the Jewish community know the signs and symptoms to look for.”
She outlined an acrostic way to recognize the symptoms:
A: Ashkenazi Jewish ancestry;
P: Peripheral neuropathy, which Saxe said is a tingling and numbness in the feet and toes, and as it progresses it affects the hands as well;
B: Bladder control problems;
D: Decreased energy.
“Doctors do their best — I have nothing but respect for the medical profession — but it’s a rare disease so they don’t expect that this collection of symptoms in a Jewish adult of Ashkenazi Jewish ancestry has any meaning,” she said. “If the Jewish community knew to put together these four signs, the rate of diagnosis would be tremendously higher.”
A key factor is these symptoms develop later in life, she emphasized.
“People just generally go from specialist from specialist. … They spend an average seven years — I say wandering through the desert because it is a Jewish genetic disease,” she joked, “ — and we wander through the desert trying to figure out why toes tingle, bladders don’t work, people take multiple naps during the day and they’re only 45 or 55 years old. It just doesn’t make sense.”
The foundation supports the cost of testing for APBD, which Saxe said is a simple saliva test.
And while the effects of the disease are debilitating, Saxe is optimistic for the future of research to find a way to cure it. Raising funds through the bike ride and other means have already started to help.
“The good news is that this research has been going on now for a decade or longer,” she said, “and boosted by what the University of Pennsylvania is sponsoring, has first of all identified what’s the cause and it’s the lack of a particular enzyme. So when you know the cause you can start looking at a solution.”
One possible solution a researcher at Columbia University is looking at is “the idea of snipping out one of the bad mutations and inserting the proper genetic code,” Saxe said.
By working with the foundation and leading a phone chat for those with APBD and their families, Saxe emphasized the importance of support and community.
“It shows that they’re not alone, that there are a lot of hands trying to raise money to find a treatment, find a cure, that we have to remain optimistic because it just takes one,” she said. “Just as Edison only needed one material to light that light bulb, we only need one answer. This is a remarkably simple genetic disease. It is one gene that has mutations. … We have to keep our eye on the horizon, we have to keep our spirits up and we have to do for ourselves all that we can.”
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