Greater Baltimore Medical Center will host a center of excellence for the treatment of Alstrom Syndrome, a rare genetic condition that causes blindness, deafness and multi-organ system failure.
The Jan D. Marshall Center of Excellence will build on an existing clinic for Alstrom patients at GBMC. That semi-annual clinic treats about eight to 10 patients, giving them and their families the opportunity to learn about the disease, get treatment and network with other families going through the same process.
The condition affects an estimated more than 1,000 people in 68 countries.
“A major problem for people with rare diseases is that there are so few physicians that know how to treat the disease in part because there are a small number of patients that have the disease,” said Dr. John Chessare, president and CEO of GBMC HealthCare System.
The center is named after the late Jan D. Marshall, who created and led Alstrom Syndrome International. The group formed as a venue for families to share their experiences with Alstrom and, because of the disease’s scarcity, try to help share information.
In many ways, that initial group was a true “kitchen table” organization, with just a few families meeting around a tabletop in Nova Scotia, said Robert “Robin” Marshall, Jan Marshall’s husband and executive director of Alstrom Syndrome International.
The center at GBMC represents the culmination of decades of effort to bring more attention to Alstrom Syndrome, Robin Marshall said.
“This is so huge. It is so wonderful. It’s a fulfillment of a long-held dream,” he added. “Now we have a place. The validity one gets form having a center of excellence …will make people listen to you even more and even better than you have managed to do so far. … It will give you power because when you reference it with your medical teams, it has power.”
Alstrom Syndrome International has made a $500,000 pledge to create the center in Jan Marshall’s name. That money will help maintain the existing multidisciplinary clinic.
It will also help conduct research leaders hope will help patients live longer, improve their quality of life and find a cure for the disease.
Dr. Clair Francomano, director of adult genetics at the Harvey Institute of Human Genetics at GBMC, will serve as the chair of the scientific advisory board for Alstrom Syndrome International. Francomano worked with Jan Marshall for many years when she led the organization.
“For me personally, today is a bittersweet day. It’s bitter because my dear friend and colleague Jan Marshall isn’t here to share it with us,” Francomano said. “But it’s sweet because together we are making a commitment to carrying on her work.”