Beyond Labels: The Inspiring Journey of a Refsum Disease Advocate

By Simone Robinson

Meet Alan Gunzburg, a 63-year-old resident of Greenwich, Connecticut. Alan is not only a loving husband and devoted father to two daughters, but also the son of two Holocaust survivors. His life took an unexpected turn in his thirties when he received a rare diagnosis of a retinal degenerative disease, making him the only member in his family with this condition. Despite the obstacles he's faced, Alan's perseverance led him to make a positive impact within his community as an advocate for others with visual impairments.

Although he wore glasses for many years, Alan noticed a drastic change in his vision during a night out with friends at a dimly lit bar, where he struggled to see people. He visited a local ophthalmologist, who then referred him to a retina specialist. After undergoing examinations, he received an initial diagnosis of retinitis pigmentosa, which was later validated by a second specialist.

“I worked for several years after my diagnosis,” he says. “It was the saddest years of my life because I lived in limbo between working and not working. I was disconnected and struggled with talking to anyone else about the changes in my life.”

While visiting the doctor's office, he stumbled upon brochures from the Foundation Fighting Blindness. He reached out to the organization shortly after and began to attend their local meetings. This marked the beginning of his involvement with the Foundation and several years of genetic testing, which led to a formal diagnosis of Refsum disease.

Refsum disease is a very rare metabolic disorder usually resulting from mutations in PHYH that impair the body's capacity to metabolize phytanic acid. It impacts many parts of the body, but for Alan, it has caused significant vision loss, hearing loss and physical signs on his hands and feet.

“I was severely underdiagnosed for years,” he says. “I don’t feel cheated, but I do feel that if I had a more thorough exam the doctor would have initially discovered that I have the classic physical attributes from my thumbs to my feet that Dr. Refsum wrote about in the 1950s.”

After receiving his diagnosis, the greatest challenge he faced was rediscovering a sense of self-worth in a world that places importance on who you are and what you do.

“I had to eventually leave my job selling office equipment at Xerox Corporation,” he says. “I realized in my loss of work that there was loss of structure and how I managed my day. Everyone defined themselves by what they do, so that was the hardest part, I did not have something to tell someone. It really impacted me in a negative way.”

Supported by his family and the local organizations he connected with, Alan embarked on a journey of self-discovery, taking on volunteer opportunities until he carved out his own path of fulfillment.

“I took the sadness of the moment and figured out what I can do to make life better,” he says. “It’s a story I am proud of. I was down as low as I possibly could have gotten, but I found a way through. I found a way to be of service, to use my knowledge to help others and create a brighter present.”

Formerly serving as the Chairman of the Board of Directors for the Department of Human Services in Connecticut, he now has assumed the role of Chairman for the First Selectman's Advisory Committee for People with Disabilities in Greenwich. Alan also dedicates his time to working with Coffee for Good, a local organization committed to providing training and competitive job placements for individuals with disabilities.

“We help take people post-high school to develop their talents and abilities, so they are ready for work in several industries,” he says. “We help with self-assessment, resume building, interviewing and work placements.”

Since opening two years ago, the organization has successfully facilitated the placement of 18 individuals into local jobs across various industries, and at present, 24 individuals are undergoing training.

“It’s very hard to break the stigma when you have a disability. People may not trust that you can get the job done, but I am most proud of giving a voice to people who for one reason or another cannot raise their voice loud enough,” he says.

Alan’s vision and hearing have remained stable over the years due to drastic lifestyle changes, including his diet. Early diagnosis for certain retinal diseases and syndromic conditions may help patients make lifestyle changes to preserve their vision and overall health.

“Being mostly vegan has been beneficial for me as a Refsum patient. With the guidance of the Global DARE Foundation, I have been able to enhance my diet with low to no phytanic acid foods to help manage my condition,” he says.

Alongside his loving family and trusted guide dog, Denise, Alan continues to remain optimistic about his future and the prospects of retinal degenerative disease treatments.

“The Foundation Fighting Blindness brought me to this point. My Refsum journey would not have happened without the Foundation and all the work that was done,” he says. “I am very fortunate. I may have lost my job, but I have a great family who loves me and takes care of me. I am happy that I can still see their smiles.”