Parents of Children With Rare Disease Move Researchers to Connecticut
May 28, 2017
Story by Stephen Singer at The Hartford Courant
Gayle Temkin spends her days at Solomon Schechter Day School, where she occupies a small, windowless room to be near her daughter Alyssa, ready to administer the lifesaving medication that allows the youngster to survive.
Temkin knows well that parents of children with a rare liver disease must be perfect: missing a dose can be fatal.
“This is my job,” Temkin says. “I’m her mom.”
So when a group of parents in West Hartford had the chance to put Connecticut at the forefront of research into treatments and perhaps even a cure for glycogen storage disease, they eagerly took up the challenge.
“I just said, ‘How about bringing the program to Connecticut?'” recalled Temkin, who with her husband, Steve, organized a meeting in their home in April 2016 with David Weinstein, a Florida physician and GSD researcher since the 1990s. “It just seemed the right question at the right time.”
Weinstein, with ties to Connecticut, had been invited to meet with parents of children with GSD and others for an update about research into glycogen storage disease. The illness affects the liver’s storage and release of sugar.
A pediatric endocrinologist, Weinstein has treated the Temkins’ 11-year-old daughter Alyssa, who has GSD, since she was an infant. “He saved my daughter’s life,” Temkin said.
The following day, Weinstein met at the Temkins’ home with Jim Shmerling, president and chief executive officer of Connecticut Children’s Medical Center.
“Everything clicked. Everything fell into place,” Shmerling recalled. “We both wanted to make it work.”
With the University of Florida closing its hospital-based research unit, Weinstein said the offer from the group of supportive parents and others in Hartford and West Hartford was well-timed. Weinstein and his team were eager to test in clinical trial a gene therapy for GSD.
“I don’t know what would have happened if the families didn’t come together,” he said. “I might have had to give it up.”
Weinstein, 48, arrived in December at the Connecticut Children’s Medical Center with a staff of researchers and other health professionals and at UConn Health. They began work in January at the Global Center for Glycogen Storage Disease established by the families of patients to bring the program to Connecticut, he said.
“It’s easy to get people to move to Florida,” Weinstein said. “But to get people to move from Florida in the middle of winter to Connecticut, I don’t think most people really wanted to be in the snow and wanted to pay all those taxes again. But that just shows the dedication of the team.”
The Temkins’ work on behalf of families coping with GSD began in 2006 when they established a foundation to provide financial help to families of patients, contributing air fare to travel for medical visits and other expenses.
The Temkins donated money to build rooms at Connecticut Children’s Medical Center to accommodate Weinstein and his staff. With others, they are raising money to support Weinstein’s work. Gayle Temkin would not discuss the amount being raised.
“It’s too new of a program to know how much we’ll need,” she said.
On a recent afternoon Gayle Temkin monitored her daughter’s blood level at lunchtime in the school’s cafeteria. Alyssa, who dances and plays the piano and basketball, said she’s gotten used to the constant feeding demands.
“It feels normal to me, I’m so used to it,” she said.
Those with GSD must take cornstarch every three to four hours to provide a continuous glucose source, which is broken down by the body slowly and released to maintain blood sugar levels. Cornstarch therapy was introduced as a slow release form of glucose in 1982.
What Weinstein calls a “very simple treatment” using a $2 container of cornstarch has improved the prognosis for people with GSD. But it comes at a cost, demanding frequent dosages with no room for margin to avoid seizure or death.
“How many times in life do we have to be perfect? In GSD they have to be perfect,” Weinstein said.
“The stress that these families live under, of having to give the feeds always on time, is something that’s hard for I think most people to fathom,” he said. “Imagine going to bed at night and knowing that if you hit the snooze button your child could have a seizure.”
Children from around the U.S. and the world visit the Connecticut Children’s Medical Center for observation, a “30-hour tuneup,” Weinstein said. At their once-a-year visit, he records their weight, metabolism and other characteristics to adjust their intake of cornstarch and protein that release glucose.
GSD was considered fatal until 1971 when providing a continuous source of glucose was found to lessen metabolic disorders. In 1982, cornstarch began to be used as a continuous glucose source and the prognosis for patients improved. People with GSD now live longer than before.
Weinstein, a native Floridian who has frequently been to Walt Disney World, said he wants visits by children to Connecticut Children’s Medical Center to be similar to what sick kids experience when they go to the Orlando, Fla., entertainment complex.
Free toys, getting the chance to squirt Weinstein with a water gun and a customer-first approach help youngsters overcome anxieties common with intravenous tubes, blood draws and other procedures.
Weinstein is no stranger to the state. He was an undergraduate at Trinity College where he met his wife, Geraldine, and researched Alzheimer’s disease as a student with funding from the college president’s office.
Weinstein said genetic research on GSD is set to begin at UConn Health after delivering promising results in dogs and mice. With gene therapy the liver would release sugar unaided, he said.
When Weinstein ended his 12-year run in Florida by moving to Connecticut, he brought about a dozen staff members, including nurses, dieticians and social workers.
“It’s remarkable that our whole team would pick up from Florida and move to Connecticut,” he said. “The staff or their children have the disease, which leads to the most dedicated employee you can have because they all care.”
Iris Ferrecchia, a nurse, moved twice to work with Weinstein. She relocated to Hartford from Florida last year and to Florida from Massachusetts in 2012.
“It’s almost like a calling,” she said. “David can’t do this alone.”
Ferrecchia’s two sons are in their 30s and have GSD. A daughter died in infancy in 1977, she said.
Kathy Dahlberg joined Weinstein in Hartford, leaving her home in St. Cloud, Minn., her college-aged twin sons and 87-year-old mother. She reached out to him with the message: “If I can be useful, let me know.”
She and Weinstein met at a Seattle conference when her sons, who have GSD, were just 2 years old. “I was a single parent with twins with a rare disease all alone in the world, not knowing anyone in the world who had that disease,” she said.
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