AN ALMOST UNKNOWN KILLER KNOWN AS GLYCOGEN STORAGE DISEASE HAS BEEN MAKING THE LIVES OF MANY FAMILIES A NIGHTMARE OF MISDIAGNOSES AND MISTREATMENTS. HOWEVER, ONE LONE RANGER OF HEALTH HAS FOUND AN ACCESSIBLE SOLUTION…AND TODAY HE IS SAVING LIVES.
By Rochelle B. Weinstein
Meredith Gussin and her one-year-old son James are stopped at airport security in the bustling Miami airport. Meredith is carrying a suspicious-looking white powder and a gram scale. The TSA agent eyes her cautiously as he firmly asks her to step up out of the line. It is then that Ms. Gussin hands him the letter from her son’s pediatrician, Dr. David Weinstein, the world’s leading research expert on glycogen storage disease.
A rare genetic disorder that prevents the body from breaking down sugars in between feedings, GSD afflicts 1 in 100,000 babies and is most common amongst Ashkenazi Jews. Dr. David Weinstein, a native Miamian, who now calls the University of Florida’s Shands Hospital home, has dedicated his career to helping these children, and it has not been in vain. He is working on a cure using gene therapy and, until that day, has drastically improved the lives of his patients with cornstarch-of all things!
“All of my patients carry that letter with them when they travel,” says Dr. Weinstein. “Patients with GSD must supplement with cornstarch mixed in water in order to maintain normal blood sugar levels. These patients live by the strokes of the clock. The measurement must be exact, the timing accurate, or they will suffer seizures, hypoglycemia, or even death.”
From a very early age, Dr. Weinstein wanted to be a doctor. He grew up in Miami Beach, Florida with his defense attorney father and travel agent mother. After graduating as valedictorian from both Miami Country Day School and Trinity College, he attended Harvard Medical School. He then became chief resident of the famed Boston Children’s Hospital. It was there he was first introduced to this insidious, mistreated, and often misdiagnosed disease. “Even though it is one of the most common genetic disorders in the Jewish population, very few people had ever heard of it. Most physicians know very little about the disease. Consequently, most of the children would end up developing severe hypoglycemia overnight and many children died. The diagnosis would be SIDS [sudden infant death syndrome].”
Upon attending a GSD conference for the first time in 1998, Dr. Weinstein was stunned to witness a moment of silence before the meeting to “commemorate all the children that had died that year.” This got Dr. Weinstein’s attention, and what he learned at the conference was unsettling. “The research was outdated. It had been 16 years without a clinical advancement, and no clinical research was occurring.” Most of the patients were doing poorly, and there was no hope. “I went back to Boston Children’s and decided to create a research program for GSD. Children shouldn’t suffer simply because they were born with a rare condition.” Through the doctor’s tireless efforts, and what many call an obsessive commitment to curing the disease, a treatment is now in sight.
Dr. Weinstein, along with his wife Geraldine, sixteen-year-old son Justin, and their dog Argo (named after the largest manufacturer of cornstarch) moved from Boston Children’s to the University of Florida eight years ago to pursue the dream of finding a cure. “We have had great success in treating dogs that naturally have the disease and we are now seeking permission from the FDA for gene therapy in humans.”
His patients call him a hero. He visits with them regularly in his signature cartoon-themed ties, lowers himself to meet them at eye level and engages them with his gentle manner. The hints of sickness quickly strip from their faces whenever “Dr. W” is around. The families speak of Dr. Weinstein with gratitude and kindness. Meredith Gussin still has taped to her refrigerator the email that Dr. Weinstein sent her when she was desperate and afraid. He promised her that he would take care of her son…and he has.
Dr. Weinstein’s commitment has saved afflicted children in more than 30 countries. He was recently honored in Poland with the Order of the Smile Award, an international humanitarian award which places him amongst recipients such as Pope John Paul II, Oprah Winfrey, Nelson Mandela, and Steven Spielberg. At the event, patients clamored for the opportunity to share the many ways in which Dr. Weinstein has touched their lives.
“I was thirty-one years old and in a wheelchair,” says patient Esther James. “My daughter had to feed me and dress me. We live in Wales so the care for GSD is not as precise as it is in the United States. I arrived in Gainesville to meet Dr. W frustrated and hopeless. Within twenty-six hours I was out of the chair, walking on my own and dressing myself. I flew home to Wales without the wheelchair.” In between tears she adds, “He saved my life.”
Dr. Weinstein is a hero. He is also my brother-in-law and friend. His efforts on behalf of these children inspired me, Rochelle B. Weinstein, to include a subplot on GSD in my most recent novel, The Mourning After (Amazon). The story takes place in Miami Beach, and it sheds light on the many challenges a family faces while living with this life-threatening illness. As an author, building awareness is key. “When the treatment is a gravy thickener” says Dr. Weinstein, “it’s difficult to get the disease the attention it deserves. It’s not cancer or diabetes, affecting millions. These orphan diseases are forgotten. Only when it is your child, you will do just about anything to find a cure. I’m here to give these families back their lives.”