“Chocolate Bar” and genetic disease research
A campaign started quietly by a couple of first-graders two years ago to help find a cure for a rare genetic disease passed the $1 million mark in late December, with donations streaming in from all 50 states and 60 countries across the globe.
The million-dollar achievement was celebrated in reports by major television networks as the perfect feel-good story, but the trigger for this global effort was a somber diagnosis at the birth of Jonah Pournazarian.
The playful, red-haired youngster was born weighing 4 pounds and with an extremely rare metabolic malfunction, known as glycogen storage disease (GSD).
Glycogen is a stored form of glucose, or sugar, which the body’s metabolism breaks down and converts into energy. Enzymes play a crucial part in this process, and when they malfunction, as in GSD, the metabolic process slows or shuts down completely.
GSD is predominantly a children’s disease, targeting different parts of the body and classified into 14 categories. Jonah’s case is identified as type 1b, in which glucose is stored in the liver and “can’t get out,” his doctor said. (Type 1a of the disease affects mainly Jewish kids of Ashkenazi descent.)
Type 1b of GSD is so rare — fewer than 100 children in this category have been identified in the United States — that medical researchers and potential grant-givers have long ignored it.
However, there was one person who decided to break through the indifference. His name is Dylan Siegel, who was Jonah’s best buddy when both were first-graders at the Wise School, affiliated with Stephen Wise Temple, a large Reform congregation in West Los Angeles.
One day two years ago, Dylan heard his mother talk about an effort to raise money among the temple’s members to support the work of a leading GSD researcher, and Dylan said he, too, wanted to give some money.
As Debra Siegel recalls, “I suggested to Dylan that he set up a lemonade stand, but he said he wanted to write a book.” She took her son’s plan as a childhood fantasy, but the next day Dylan presented his parents with the finished product.
The cover of the richly illustrated, 14-page booklet reads “Chocolate Bar by Dylan Siegel” and the tone is set in the first entry, which reads, “I like to go to Disneyland. That is so Chocolate Bar.”
Other “Chocolate Bar” (read: “awesome”) experiences recalled by the author-illustrator include going to the swimming pool, aquarium, bowling alley and so forth, ending with “I like to help my friends, that is the biggest Chocolate Bar.”
As with almost every first-time author, writing the book was just the beginning, but Dylan kept pushing the project. He drafted his father, a marketing consultant, for the production phase of the project. His dad ordered an initial print run of 200 copies of the book.
At the synagogue’s Mitzvah Day, the two boys and their respective parents sold enough autographed books, at $20 each, and $5 chocolate bars (donated by a neighborhood food market) to raise about $7,000.
Augmenting the sales force were the boys’ two teachers, Orlee Raymond and Kimberly Snyder, sporting two-of-a-kind T-shirts, with the legend “1st Grade Is So Chocolate Bar.” (Full disclosure: Raymond is this reporter’s daughter and tipped me off to the story.)
In late 2012, the Jewish Journal ran an article about Jonah and Dylan and their mission to help find a cure for GSD.
The article came to the attention of a producer for NBC, who asked Chelsea Clinton, then doing feature segments for NBC, to look into the story.
She did. Clinton showed up at the Wise School, and the story aired on the national NBC evening news a short time later.
Amid the media’s generally gloomy string of disaster news, the Chocolate Bar segment resonated with viewers.
Other major TV networks, newspapers and social media spread the story across the globe with added interviews of Dylan, now 8, and Jonah, 9, and still closest of friends in third grade. The results have been spectacular.
By early December 2014, David Siegel, Dylan’s father and pro bono coordinator of the project, could report the sale of 25,000 Chocolate Bar books. Support for the project came from some 10,000 people, most of them mailed-in donations in the $20 range.
Outside the United States, letters and money came from 60 countries, ranging alphabetically from Argentina to Uruguay, including India, Kuwait, Nigeria, Slovakia, Mongolia, United Arab Emirates and Thailand.
Every Chocolate Bar dollar supports the GSD research of Dr. David A. Weinstein, initially at the Harvard Medical School and now at the University of Florida in Gainesville, where he directs the largest GSD treatment and research program in the world.
The disease was almost always fatal, until researchers developed the first effective therapy for GSD in 1971. A major breakthrough came a decade later with the discovery of a simple “medication” in the form of corn starch, injected through a surgically implanted feeding tube.
However, the prescribed doses have to be administered every three hours, without fail. Missing just one dose can lead to a hospital stay or even death. It’s a grueling cycle for Jonah’s parents, Rabin and Lora Pournazarian, but, as the mother put it, “This [schedule] has become our way of life.”
Weinstein’s research, entirely underwritten by the Chocolate Bar campaign, has been able to extend the intervals between feedings, and his aim is to give his patients (and their parents) full nights of uninterrupted sleep.
In the long run, Weinstein is looking toward gene therapy as the cure for GSD, which has been successfully administered in dogs, which also get the disease. He hopes to start trials on humans when the federal Food and Drug Administration gives the green light.
Weinstein, who visits Israel frequently on a collaborative project at Israel’s Sheba Hospital in Ramat Gan, is upbeat about Jonah’s future. “Our treatment is working,” he said, “and I expect Jonah to do very well.”