In an unexpected twist of where he thought his life would take him, Jeff finds one of his greatest purposes in life raising awareness of and helping find therapies for rare diseases.

Jeff Levenson is a volunteer, co-president of the Adult Polyglucosan Body Disease Research Foundation (APBD RF), which was founded in 2005. APBD is a neurodegenerative, monogenic, glycogen storage disease (type IV) which mimics Multiple Sclerosis, among other conditions. Jeff is a general dentist and has been practicing in Midtown Manhattan for over 40 years. His other interests include fostering and training rescue dogs (he is certified trainer), following a whole food plant-based diet and cooking and baking creative healthy vegan dishes for his family.

Transcript

In the 1980s, my wife and I made a decision that would forever change our lives, and not in the way I ever thought. I contacted my estranged father I hadn't seen since a messy divorce with my mom when I was a toddler.

One of the first things my father and I did together was to go to a martial arts Aikido workshop. My father had practiced Aikido for a while so I was surprised to see his strange movements after each drill.

In Aikido, you redirect the energy of your opponent back onto them. The drills are smooth, almost hypnotic flow, and I could see that my father was struggling awkwardly with the control of his body.

"Is everything okay," I asked.

"Everything's fine," he reassured me with a forced smile. "My legs have been a little stiff. That's why I like Aikido. It helps me learn how to fall.”

After class, I spotted a urinal in the car. I didn't say anything because I didn't want to embarrass him.

As we spent time together, my father and I grew closer and closer and I watched him get sicker and sicker. In time, I watched my father's brother, the uncle that I had not known, go through the same decline.

Together, my father, my uncle, and I searched for over a decade for a diagnosis. Looking back on that day at the Aikido workshop, I realized it was the start of an over‑a‑decade‑long diagnostic odyssey, which included doctors’ visits and endless tests, electric probes, claustrophobic scans and a barrage of ineffective drugs. And, oh, yes, the gold standard nerve biopsy, actually cutting out nerves from his calf for microscopic examination.

The list of potential diagnoses grew. Was it his spine, bladder, prostate, all of the above? Maybe MS? Eventually, my father and my uncle were diagnosed with a dreaded rare disease called Adult Polyglucosan Body Disease, APBD.

I didn't have any idea what APBD was. I just understood that there was no treatment for it. Within a few years, my father, followed by my uncle, succumbed to the disease.

A few years later, in 2005, Dr. Edwin Kolodny, the man that helped finally diagnose my father, at that time, he was the Chief of Neurology at the New York University Medical Center. He invited me to a meeting in his office with three brothers that had the same disease.

As I searched for Dr. Kolodny's office, I heard a voice call out, "Dr. Levenson!”

I turned to see a man in a wheelchair. But he wasn't just sitting there. His wheelchair was slowly elevating him into a standing position.

“I'm Gregory Weiss. I'm so happy you came. How do you like my new wheelchair?”

My father's struggle with this disease left him exhausted and resigned to his fate. Gregory, on the other hand, appeared anything but defeated. I was struck by his positivity and energy. And as I shook his hand, he came fully into an upright position. At 6’4”, he towered over me.

A moment later, two other men entered the room, Gregory's brothers, Emil and Michael. I immediately noticed that one of them had that familiar awkward gait. My mind did an involuntary time warp back over a decade earlier. It was that very same halting gate I'd seen in my father's steps, a harbinger of a journey that we never wanted to take.

I took a deep breath. I remember those last grueling and heart‑wrenching years of my father's life, those years when I watched him slip away, helpless to stop it or make sense of what was happening. The emotions welled up as the memories flooded in like a tidal wave.

I wondered what I was doing here in this office with these men who were traveling a nightmarish road like the one my father had traveled.

I willed myself back to the present, trying to focus on what Dr. Koladny was saying. He suggested starting a foundation to research Adult Polyglucosan Body Disease. Not the easiest name to remember, but I committed it to memory with a simple mnemonic. I want apple pie for my birth day, APBD: Apple Pie, Birth Day.

Dr. Kolodny went on to explain that APBD, with its single gene mutation, was a prime candidate for simple saliva testing and future therapeutics, including gene therapy.

This was just so painful. I didn't know if I wanted anything to do with the foundation when it was already too late for my father and my uncle. In that moment, I wanted just to run out of Dr. Kolodny’s office and forget my haunted memories of APBD.

I was faced with a dilemma. For years, I had lived in the presence of a quiet, insidious rare disease sneaking up on and slowly but steadily destroying the lives of men and women in their golden years. This disease had taken my father away and uncle away from me for a second time. Should I just walk away? Could I just walk away?

I knew if anyone could help, begin to find answers to the disease that was threatening the lives of so many others, it was Dr. Kolodny. I felt compelled to stay.

Working alongside Gregory, the president and founder of the Adult Polyglucosan Body Disease Research Foundation, and Dr. Kolodny became a cathartic experience. We spent countless hours on the phone with esteemed and dedicated researchers, delving into how the foundation could facilitate research into unexplored areas of APBD science.

Gregory was an amazing listener who would quietly contemplate what was being said and then ask thoughtful, probing questions.

As Gregory deteriorated, I took on more responsibilities, working mostly behind the scenes. I dedicated a lot of time to the foundation, writing emails every day, developing web content, researching potential collaborations and making calls to those who might lend a hand. I also attended numerous conferences, networking and talking about APBD and allied diseases with anyone who would even listen.

Slowly, the foundation became an integral part of my life. Miraculously, from that first meeting in Dr. Kolodny’s office, the foundation grew and flourished. We supported the building of lab models of the disease, we established registries and natural history studies, facilitated a robust preclinical research program, like developing enzyme assays and a simple genetic saliva test to simplify the diagnostic process.

While there's no treatment or cure yet, what we've accomplished thus far means no child need be born with APBD.

In 2018, Gregory succumbed to APBD. I felt his loss very deeply. Without Gregory, I wondered if I should continue working in the rare disease world, or maybe it was someone else's turn. Could I continue to make a difference?

Then in late 2019, after working tirelessly with two colleagues on the application, we received the Rare As One Chan Zuckerberg Initiative grant. The possibilities re‑energized me. And when I was offered a position as the co‑president of the foundation, I accepted.

The grant was a game changer in many ways. For example, the Chan Zuckerberg Initiative introduced us to the Broad Institute's Rare Genome Project. At the outset, we knew of only 200 individuals with APBD. With their research, we now have reason to believe there are over 23,000 individuals, mostly children, who have a disease‑causing mutation on the same gene that causes APBD. This number, together with collaborating with other allied diseases, may help expedite desperately needed therapies.

More recently, Gregory's youngest brother, Emil, my co‑president, joined a physician‑sponsored compassionate study in Israel. Another glimmer of hope, although the drug is still years from potential approval.

Advocating for the lives impacted, irrevocably changed by these rare diseases, makes me feel my days are spent in a worthwhile endeavor. If I close my eyes, I can imagine my father watching me with great pride and gratitude. If I could not save his life, I know he and my uncle would want me to do everything in my power to save the lives of others.

There was nothing I could do back then and that caused me great pain. Now, I can do something. I am doing something. And every advance, large or small, is, I believe, nothing short of a miracle.

Thank you.