UF pediatrician earns global recognition for treating rare disease
Published: Wednesday, January 9, 2013 at 11:51 a.m.
Last Modified: Thursday, January 10, 2013 at 7:37 p.m.
Dr. David Weinstein, a pediatrician at the University of Florida, now shares something with Pope John Paul II, Nelson Mandela and Oprah Winfrey.
He joins these luminaries as a new recipient of the Order of the Smile Award, an international humanitarian award from an organization that goes by the award’s same name and is based in Poland.
“It’s a little bit of a shock considering I deal with a disease most people and even most doctors know nothing about,” Weinstein said. “This is the first time that the humanitarian part of our efforts has been recognized. Ultimately, we’re in the business of helping kids.”
Notably, Weinstein was nominated for the award by his patients: children with a rare genetic condition called glycogen storage disease (GSD), in which they have missing or defective enzymes responsible for breaking down sugar in the body, causing it to build up in the liver and muscles.
Children who Weinstein has treated — from more than 30 countries — and their parents wrote letters to the Order of the Smile Foundation about how Weinstein had saved them.
“It really shows the power of social media,” Weinstein said.
But the real power is his own single-minded devotion to a disease that no one else was touching when he came across it as a fellow at Harvard University 14 years ago.
“Somebody had to care about these kids. I decided that they needed a champion,” he said.
Weinstein moved to UF in 2005 in order to work with the Gene Therapy Institute on developing genetic therapies for the disease to ultimately find a cure. “We’ve progressed to the point of applying to the FDA to try to perform genetic therapy in humans since it’s worked well in dogs,” Weinstein said.
In moving south, Weinstein said he also hoped to create a clinical reference point for children with GSD. “One of the things I wanted to do was create a Disney World of health care for these kids,” he said.
That happened, and Weinstein has treated 425 children from all over the U.S. and 36 countries and Gainesville and helped advise hundreds more online. He also created a charity to help children who wouldn’t otherwise be able to travel to be seen by him. For example, the U.S. Army met a child in Afghanistan who, because of the charity, was able to travel to Gainesville.
Weinstein also travels once a month to Europe and South America to educate physicians on this rare disease.
Most kids with GSD begin to show signs between 4 and 8 months: They may not grow properly, or they have abdominal swelling. If the disease goes undiagnosed and untreated, children can die or suffer brain damage.
The low blood sugar kids have during the night from fasting can cause sudden infant death syndrome (SIDS), Weinstein said, adding that in certain communities that tend to marry within the community, such as Jews and Latter Day Saints, the disease was once a major cause of SIDS.
The disease is primarily genetic and affects about one in every 100,000 babies.
Although people never outgrow the disease, which has many different sub-types, they can be treated for it. And oddly enough, a kitchen staple is the most effective treatment so far: cornstarch, mixed with water.
“This gravy is a miracle treatment,” Weinstein said. But the key is proper dosing, and the cornstarch has to be measured to the gram precisely for each patient.
The formula works because it’s a slowly released form of glucose, Weinstein added. Much like diabetics, people with the condition have to monitor their blood sugar and restrict their intake of dairy, table and fruit sugars.
They take the formula a few times a day, at precise times, which involves getting up in the middle of the night.
For parents, this is often the greatest challenge.
“The big fear is that you’ll miss an alarm and the child will die in his sleep,” said Iris Ferrecchia, a mother of four grown children, three of whom have the disease and have been treated by Weinstein.
“When you have a doctor who cares so much, it’s easier to have kids with it because you don’t feel like you are alone,” Ferrecchia said.
“You know that you can send off an email at 1 in the morning and will get a quick response.”
Ferrecchia recalled the time that one of her sons needed a liver resection because of tumors.
“I felt like I needed a doctor at 2 a.m., and (Weinstein) answered the phone,” she said.
Ferrecchia, also a nurse who works with Weinstein, said he is often at the office past midnight and is known to sleep just a few hours at night.
“Dr. Weinstein is an interesting combination of science and love. He loves his patients, and he’s also so scientific and quick of mind,” Ferrecchia said, adding that Weinstein’s whole family “eats, drinks and lives glycogen storage disorder.”
Weinstein’s son, when he was in kindergarten, talked to his class about the condition for show and tell, Ferrecchia said, and the family dog is named “Argo” — the name of the world’s leading brand of cornstarch.
For his part, Weinstein said his recent award, which he will receive in August at a knighting ceremony in Poland, validates his decision to dedicate himself to a small subset of patients with a big need.
“I feel really fortunate that I practice a form of medicine where I really get to know the patients,” Weinstein said, adding that a lot of the letters in support of his nomination for the award came from children who without his help probably wouldn’t have survived the disease.
“They wanted to say thank you.”
Contact Kristine Crane at 338-3119 or firstname.lastname@example.org.
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