In early December, GBMC honored Robin and Jan by naming the Jan D. Marshall Center of Excellence for the Treatment of Alstrom Syndrome in GBMC’s Harvey Institute for Human Genetics. This Center of Excellence formalizes GBMC’s commitment to caring for Alstrom Syndrome patients and helping to find a cure for the disease.
Robin Marshall is the Executive Director of Alstrom Syndrome International (ASI) whose mission is to treat and cure this disease by providing financial support, education and research to scientists, clinicians and families. ASI pledged $500,000 to create the Center at GBMC.
It was Robin’s vision to carry on Jan’s battle against Alstrom Syndrome that propelled ASI’s Board of Directors to approve the essential funding that established the Center, "Having a center of excellence for any rare disorder, particularly one at a place as prestigious as GBMC, validates our work and provides opportunities for collaboration that would not otherwise exist," Robin said.
Alstrom Syndrome is one of the rarest and most devastating of the genetic disorders that affects children, worldwide. One in one million children is afflicted. There are currently around 2,000 known cases among the global population. The disease robs children of their sight and hearing. It also causes cardiac, liver and kidney failure, and diabetes. It stems from the defect of a single gene in a person’s genetic sequence.
The now-retired Director of The Jackson Laboratory (JAX) in Bar Harbor, Maine, where the gene was discovered, Ken Paigen, PhD., LLD, characterized the disease as pervasive and progressive, "It affects the patient’s entire body and is inherited."
"People were living in terror," according to Robin. Alstrom Syndrome is so rare, there was not much information about it available to clinicians as late as 1980, let alone the general public.
"One day, your kid is going blind and they’re being told, 'No, you’re just a hysterical mother,'" Robin went on. "Three weeks later, the parent thinks their child has pneumonia, and it turns out to be congestive heart failure."
Back in 1970, Jan Marshall was a young research assistant at The Jackson Laboratory. Tasked with learning all she could about an unrelated study, Jan stumbled upon a patient with the rare disease.
"Jan first learned about it quite by accident," Robin said. His wife was working the genetics component of a heart disease study, at the time. She came home that night and told her husband, "I came across one of the worst things that could possibly happen to a child and a family. It’s called Alstrom Syndrome."
Jan’s personal zeal took over from there. She worked with scientists at JAX who found the gene that causes Alstrom Syndrome. After that, she dedicated the rest of her life to spreading the word about the disease and bringing together families of those afflicted into an extended family.
Today, ASI has become that extended family for those suffering from the disease and their relatives. As Executive Director of ASI, Robin runs the organization out of his custom-designed home that overlooks Acadia National Park and one of the many waterways in this remote part of the country. The organization’s Board of Directors had their first meeting at the Marshall dining room table.
Jan and Clair Francomano, M.D., the Clinical Director of Adult Genetics at GBMC, became fast friends when they met in 1971, while working at JAX. Dr. Francomano has made GBMC the home of the Alstrom Syndrome semi-annual clinic where patients come to learn about the disease, seek treatment and meet others afflicted by it.
Dr. Francomano runs a multidisciplinary clinic at GBMC for those with Alstrom Syndrome. She said, "We've brought children here, literally, from around the world, and I can’t begin to tell you how meaningful this is to me."
"This gift is going to help us run the comprehensive, multidisciplinary clinics, allow us to bring families here without concern for their ability to pay and run clinical trials that measure how medications may improve the longevity and the quality of life for patients with Alstrom Syndrome."Dr. Clair Francomano
Everyone who is close to the organization wears a glass drop around their necks, which unifies them and helps spread the word about Alstrom Syndrome, while the search for a cure continues. The drop symbolizes the old saying, "Drop by drop, a lake is formed." And, that is how they are taking their message to their patients and the world: one patient, one person, one family at a time.