Free to Be

Free to Be

Free to Be

Imperfect

Imperfect

Imperfect

A beloved doctor’s patients convince him to move to UConn Health — where he plans to cure a rare liver disease

By Julie (Stagis) Bartucca ’10 (BUS, CLAS)
Photos by Peter Morenus

Alyssa Temkin, age 11, pauses in the middle of a school basketball game to test her blood sugar.

Imagine not being able to fall asleep watching your favorite movie because you might not survive the night. Or waking up every 90 minutes to make sure your daughter’s feeding pump is keeping her sugar stable enough that she won’t slip into a coma. Or dropping everything 16 times a day to test your blood and drink a formula that’s the caloric equivalent of half a pound of pasta. Or feeling hopeless about keeping your newborn twins alive because they can’t process food and no one can help.

Gayle Temkin, a mom of two from West Hartford, hasn’t slept more than two hours at a time for 11 years. Her daughter, Alyssa, stops what she’s doing — dancing, guitar lessons, acting in a play, playing on her school’s basketball team — every 90 minutes to test her blood sugar and drink a special formula.

For more than a year after giving birth to her twin boys, Kathy Dahlberg waited for liver transplants that could save them.

Not long ago, a 13-year-old — who we won’t name to protect his family’s privacy — fell asleep in front of the TV, missed his therapy, and died.

All are victims of Glycogen Storage Disease (GSD), a rare genetic liver disorder that leaves patients slaves to the clock because the only known treatment is taking a cornstarch mixture every few hours or less, depending on the patient. It’s a world where one mistake can be fatal.

GSD affects only 1 in 100,000 people worldwide and long was considered a childhood illness because patients did not survive into adulthood. The life-saving cornstarch treatment that was discovered in the 1970s changed that, yet little progress in treating the disease has been made since. And then Dr. David Weinstein entered the picture.

Weinstein, who in January moved his world-renowned GSD program from the University of Florida to UConn Health and Connecticut Children’s Medical Center, has spent the past two decades researching the disease. He’s the only doctor in the world dedicated to the illness, and is so beloved that his patients nominated him for the Order of the Smile, an international humanitarian award he shares with the likes of Oprah and Nelson Mandela. And now they have more reason to applaud him: He’s closing in on a cure.

Weinstein and his team are on the verge of testing in a human clinical trial the first GSD gene therapy, which has worked for canines and mice with the illness. For the patients and their families who live in a constant countdown to the next feeding, the new therapy would mean freedom. A normal life, where mistakes can be made. Where they no longer have to be perfect.

For Alyssa and mom Gayle, a typical day of trying to be as normal as possible involves Gayle at school in a room near the office, staying in touch with her daughter by walkie-talkie. Alyssa tests and doses herself in class, gym, and while playing on the school’s athletic teams. But GSD patients don’t feel the effects of low blood sugar until they are moments from a seizure, so Gayle stays close around the clock. Lily, 9, likes to tag along to appointments with Weinstein. “He’s her hero — he saved her sister,” says Gayle.

Fatal Mistakes

“The problem with this disease is that people need cornstarch every four hours. People have died because their parents overslept,” says Weinstein. One missed alarm and a patient could die. A malfunctioning piece of medical equipment could mean a dangerous seizure.

In a healthy liver, excess sugar from food is stored as glycogen and released into our bloodstreams when we need it as glucose. For those with GSD, the liver fails to convert glycogen into glucose, causing the body’s blood sugar levels to drop dangerously low, which can lead to seizure or death.

“One of the parents was giving a talk recently and said, ‘Do you know what it’s like to have to be perfect all the time?’” Weinstein says. “And that’s what these families live with. It’s extreme stress.”

Weinstein and his team have made great strides. When he started studying GSD, the only long-term treatment was a liver transplant to combat complications. Now, patients are doctors, athletes, mothers — more than 50 babies have been born to mothers with GSD since the first in 2003. But they still live under constant pressure. The disease is relentless, unforgiving.

When Gayle and Steve Temkin brought baby Alyssa home from the hospital at three days old, Gayle knew something was wrong with her daughter. By the time they got to a hospital that night, Alyssa was in full liver and renal failure. Her sugars were undetectable. Without intervention, she wouldn’t survive an hour, doctors said.
It was six months, several hospitals, countless invasive tests, and second and third opinions before Alyssa was diagnosed with GSD at Mount Sinai Hospital in New York City.

Alyssa is now 11, a smiling, soft-spoken sixth-grader who enjoys playing sports, acting in plays, and learning to play guitar and dance. She gets good grades and loves her friends. But every 90 minutes, every single day, she must check her blood sugar and drink Tolerex, a special formula that keeps her sugar up. Alyssa is the only known GSD patient who can’t tolerate cornstarch, and Tolerex doesn’t last as long, so the time between her treatments is even shorter than it is for most GSD patients.

While the Temkins do everything they can to make Alyssa’s life normal, there are constant reminders that it is anything but.

During the night, a pump attached to a feeding tube in her stomach feeds Alyssa dextrose (which is less filling than Tolerex, but metabolizes faster). Her parents wake up every 90 minutes to check her sugar, but her feeding is done automatically through the pump.

Gayle spends every day at Alyssa’s school. For years, she would go into the classroom to feed Alyssa, first through her feeding tube and, more recently, with a drinkable formula. This year, Alyssa has gained some freedom. An Apple Watch reminds her when it’s time to test her blood and drink, and she reports her sugar level to her mom via a walkie-talkie. Gayle, a former social worker, stays close, just in case.

If Alyssa’s sugar gets too low, she doesn’t feel it. Unlike most people, GSD patients don’t feel shaky or get headaches when their sugar drops — at least not until it’s too late. By then, they could be moments from having a seizure.

“I sit in her school all day,” says Gayle. “I have a master’s. I’m a social worker. But I do what I have to do.”

Because she knows too well what can happen.

In February 2015, the family had returned from a trip to Italy and decided to “camp out” together in the same room. As Gayle and Steve dozed off, Lily Temkin, 9, stayed up, reading, unable to fall asleep.

“I hear Lily saying, ‘Alyssa, come on, want to play with me? Alyssa, you want to read with me? Alyssa, Alyssa.’ And then, screaming,” recalls Gayle.

Alyssa’s pump had stopped working. She was having a seizure and remained unconscious at the hospital.

“David [Weinstein] stayed on the phone with us the whole time,” says Gayle. “He was booking a flight to Connecticut. We really thought he was going to be coming for a funeral.

“There is nothing about this disease that’s forgiving. It doesn’t matter what regimen you’re on; it could be a bad batch of something. We think we’re doing everything right, and the pump malfunctions.”

There was no research going on anywhere in the world on this disease. And if there’s no research, that means there’s no hope.”

Temkin with Dr. Weinstein

Dr. Weinstein has treated Alyssa since she was six months old. The Temkins were instrumental in bringing him to Connecticut, where he is about to begin human clinical trials of a gene therapy they all hope will lead to a cure.

Research = Hope

Weinstein had no intention of dedicating his life to curing GSD. As a young physician at Boston Children’s Hospital specializing in sugar disorders in 1998, he was caring for just two patients with GSD when he was invited to a national conference of the Association for Glycogen Storage Disease.

“I showed up at this meeting and was shocked by what I saw,” he says. The conference started with a moment of silence and a reading of the names of all the children who had died from GSD that year. The research presented was decades old. And the only treatment option being discussed was liver transplantation to combat complications from the disorder.

“There was no research going on anywhere in the world on this disease,” Weinstein says. “And if there’s no research, that means there’s no hope.”

A conversation with a mother there changed the course of Weinstein’s life. Knowing no one at the conference, he sat down for lunch next to Kathy Dahlberg, who had one-year-old twin sons already on the liver transplant list. She told Weinstein how sick her children were, and that her only hope was that they’d live long enough to get their liver transplants. Weinstein had a son at home a month younger than the twins.

“Over lunch at that conference, I decided that somebody had to care about these children. The children shouldn’t have to suffer just because it was a rare disease,” Weinstein says. “The world didn’t need another diabetes doctor. This is where I could make a difference.”

As soon as he returned to Boston, Weinstein shifted his research focus to GSD and built the program there before moving it to the University of Florida in 2005 in order to work with the veterinary program. He has successfully treated dogs with his gene therapy, turning a fatal disease into one where dogs born with GSD are thriving.

Today, Weinstein sees 500 patients from 49 states and 45 countries. With help from Alyssa’s Angel Fund — started by the Temkins when Alyssa was a baby — and other charities, he has established centers all over the world.

The world didn’t need another diabetes doctor. This is where I could make a difference.

The world didn’t need another diabetes doctor. This is where I could make a difference.

All the Way

It was in her “little room” at Alyssa’s school that Gayle Temkin started toying with an idea.

Sure, the charity her family started had enabled 100 patients to see their hero doctor. It had sent supplies to those in need and helped Weinstein establish centers to see patients and train doctors all over the world.

But to accomplish the grand goal, to cure GSD, Temkin thought there was another thing she could do.

She wanted Weinstein to come to Connecticut.

Early last year when Weinstein was in the state for a speaking engagement, Gayle brought together a group in her family room that included prominent Hartford-area philanthropists Alan Lazowski, Eric and Jessica Zachs, and Pia and Mickey Toro. A 2012 fundraiser hosted by Lazowski had raised $470,000 in one night to support Weinstein’s research, and she wanted to provide an update on the work and how close the gene therapy was to being a reality. But the group also had come on board to push Gayle’s idea of having the doctor move to Connecticut.

It became “almost like an intervention,” she says with a laugh. “We gave him a safe space to talk about what was working, what needs to be different, and what he thinks he can do with the program. We really wanted him to see what it’s like to have a community really embrace him. We made him understand this is where he needs to be.”

The group tapped into connections at UConn and Connecticut Children’s. Within hours, Weinstein was on the phone with UConn School of Medicine Dean Dr. Bruce Liang. From there, the wheels were set in motion.

In January, the GSD lab moved to UConn Health’s Farmington campus. At the same time, a clinical and research unit supported financially by the Temkins and other local philanthropists opened at Connecticut Children’s. Gayle Temkin, Alan Lazowski, and Barry Stein are the trustees for the Global Center for Glycogen Storage Disease, and through the new organization will continue to raise money to support Weinstein’s program. They are working to set up other forms of assistance for patients and their families, including a closet with free supplies at the clinic, and support programs for families once the clinical trials start.

Because GSD patients are now surviving well into adulthood, the partnership between the two institutions makes great sense. “We’re much stronger working together,” says Weinstein.

Although Weinstein is the only doctor in the world dedicated to curing GSD, he says he’s not doing it alone — far from it.

“I’ve never seen a program like ours. I only do one disease. Everybody on my team does just one disease,” he says. “This is personal. Most people have a connection to the condition, and so they’ll work until everything’s done. It’s just a dedication that I’ve never experienced anyplace else.”

The bulk of Weinstein’s Florida team came to Connecticut with him. His team includes GSD patients and parents, including several who have called him out of the blue to tell him all they want is to work with him.

One, who moved to Connecticut from Minnesota to join the new center, is Kathy Dahlberg, the mother who changed Weinstein’s course all those years ago. Her twins are now sophomores in college.

And, after nearly two decades of dedicated research, Weinstein’s next step is the one he’s been working toward all along. Human safety trials of his gene therapy, in conjunction with Dimension Therapeutics in Cambridge, Mass., are expected to start this year. UConn will coordinate the trials with collaborating centers all over the world. Full-treatment trials should start in 2020.

The ultimate goal for the gene therapy, according to Weinstein, is to prevent low blood sugars, eliminate the dependence on cornstarch, and give patients normal lives where oversleeping isn’t a worst-case scenario.

“If we can accomplish that, we’ve come all the way,” he says.

“He knew he could do this,” says Gayle. “It’s all of the pieces falling into the puzzle in the right direction; it’s really like a miracle.

“When we first brought Alyssa to him, he said, ‘By her bat mitzvah, by the time she’s 12 or 13, we should be able to cure her.’ And she’s 11,” she says. “We’re almost there.”

Discuss

  1. My son who turned 23 this september has GSD III. we have been followed in Montréal since he was 6 months old. even though i have followed Dr. Weinstein through the years, my son and I have never had the honor of meeting him. Most definately this would be an ideal gift for both of us, because together my son and I have come a long way ! 🙂

    • Hi, would love to chat to you,
      I also have gsd type three.
      Living in nz, there is really no chance to visit this amazing dr but I would love to hear your journey.
      X
      Sasha

  2. The GSD team has changed my life in ways I never thought possible. I feel so blessed to call him my doctor. Not to mention that if any of his patients need him, they can call anytime and he is there for us.

  3. Thank you for this article and Gayle if you read this thank you for persevering and getting Dr. Weinstein to CT. My son is 6 and has 1a and this gives me so much hope that there will be a cure by the time he is a teenager.

  4. Hi, I am the mother of a soon to be 42 year old AGSD Type 1A patient. His glucose is fairly stable on 6 doses of 10 TBsp of cornstarch 4x day.

  5. Thank you for this great article. We have a grandson who is 1 year old and has GSD 1a. We would love to see him get in to see Dr Weinstein at uconn, he is on a waiting list now. What can we do on the West Coast to help with the cause?

    • Hi Robert,

      Thank you for writing and wanting to help. Here are the contacts you asked for:

      Our website for donations is 
      http://www.GlobalCenterForGSD.com
      http://www.AlyssasAngelFund.org
       
      Donations can be sent to:
      Global Center for GSD
      333 Bloomfield Avenue Suite D
      West Hartford CT 06117
       
      To inquire about getting to see Dr. Weinstein please call his program coordinator: Traci Resler at 860-837-7800.

      Best of luck to you and your family,

      Lisa

  6. David – Mom and I are so proud of you and all that you do to make the world a better place. The hope to have provided to your patients for an ultimate cure and a normal life is a wonderful gift to them. I am certain that one day in the near future we will all be celebrating your success in curing this terrible disease. Love, Dad

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