Greater Baltimore Medical Center has established the country’s first center for treatment of Alstrom Syndrome, an extremely rare genetic disease that does devastating harm to every system in the body, the Towson hospital announced Friday.
The Maine-based nonprofit support group Alstrom Syndrome International donated an undisclosed amount of funding for the effort, which will mean more people will have access to the specialized care offered by GBMC. It also will mean more research that could translate into treatments for the syndrome and other related ailments such as diabetes and heart disease.
“We have work to do and now we have a place,” said Robert “Robin” P. Marshall, executive director of ASI, which donated the funds for the center, named for his late wife Jan D. Marshall.
Marshall said the move fulfills a decades-long goal of the couple, who launched ASI to bring attention to Alstrom Syndrome, to direct funds to therapies and to bring together families who rarely know others with the disorder. There are only about 1,000 known cases in 68 countries.
Alstrom Syndrome is caused by a genetic mutation and has wide-ranging effects including blindness, deafness, organ failure and premature death.
Infants often show the first sign of the disease, a sensitivity to light. Vision and hearing may worsen in childhood. That can cause learning difficulties, though the children are not intellectually challenged.
As they age, those with the syndrome can begin to have problems with their livers and kidneys and develop high cholesterol and diabetes. Sometimes they have enlarged hearts. At puberty, the children are often overweight and short in stature.
The symptoms and specific ailments can be managed by specialists to improve quality of life, but those with the syndrome rarely live past age 50.
Because doctors normally have only one or two patients with the syndrome, they often don’t understand how to treat the inter-related ailments or respond to unusual reactions. GBMC has been holding twice-a-year clinics where eight to 10 patients at a time have been able to get their medical records reviewed and their disorder evaluated.
The ASI funds will pay for more patients to come to the clinics, which GBMC will continue. The money also will be used to bring doctors and researchers to the center.
Eventually, ASI wants to open more centers around the country to make it easier for patients to get treatment and for researchers to run clinical trials that require enough subjects to test potential therapies.
Marshall said ASI chose GBMC because of Dr. Clair Francomano, a geneticist and director of adult genetics at the hospital’s Harvey Institute of Human Genetics. She is also now chair of the scientific advisory board for ASI.
Francomano was a longtime friend of Jan Marshall, who was a researcher looking into another disease when she came across a small number of cases of Alstrom Syndrome. Marshall, who died in 2016, was so moved by the children’s plight that she dedicated her work to the cause and the families.
“This center will help carry on her work,” said Francomano, who worked with Jan Marshall for years to facilitate clinics and ASI conferences held every three years. “We will help patients with health care and conduct research desperately needed to find a cure.”
Among those who could benefit are kids such as Emma Lowell, who came with her mother, Katie, from South Carolina for the center’s announcement. Katie said Emma gets good treatment near home, but doctors have no other such patients and don’t always understand why her body responds differently to treatments.
Emma, in a flowered dress and with a bow in her hair, sat patiently holding her Rapunzel doll during the press conference to announce the center. She and her mother were happy to catch up with other families that they may only see every three years at the conferences.
They also were hopeful for new targeted treatments and even a cure for Emma.
“To have a place actually working on it,” Katie Lowell said, “It’s great.”