By Matt Hagengruber, Wisconsin State Journal
At 16 months, Tyler Tracy can only handle about four grams of carbohydrates per day. Other children his age need about 40 grams.
And instead of latching onto a bottle during his four daily feedings, Tyler falls asleep in his crib as a special formula is dripped from an IV bag through a tube and into his stomach. His throat and neck muscles are too weak to handle sucking on a bottle or swallowing thick formula.
Tyler has a rare genetic disease called PDH deficiency. His body is unable to process carbohydrates, and lactic acid can build up in his muscles, making him limp and lethargic.
His parents, Jeff, 36, and Kristin, 35, learned of his disease two months after Tyler was born. Some estimates say the disease only affects about 200 kids in the United States.
“We’re just a normal family that got walloped with a doozy,” Kristin Tracy said from their home north of Lodi in Columbia County.
The Tracys have been using a special baby formula called KetoCal that is meant for children with epilepsy, and they say KetoCal is keeping Tyler alive. The formula is based on the ketogenic diet, which gives kids a 4-to-1 fat-to-carbohydrate ratio. A powder that is mixed with warm water, KetoCal is a lot like other children’s formulas.
But after a tussle between the company that makes KetoCal and the U.S. Food and Drug Administration, the company can’t sell KetoCal in the United States. The Tracys feel like they’re caught in the middle.
Now, as the Tracys try to get the formula from Canada, they begin down a path that other parents might soon be on as the formula disappears from shelves in the United States. Epilepsy affects 2.3 million people in the U.S., with about 316,000 being under the age of 14, according to the Epilepsy Foundation. No data are available on how many children use KetoCal.
The FDA and the company, SHS North America, use different methods in determining the amount of carbohydrates in the formula, which is considered a medical food used for diseases or medical conditions. The company says the formula has three grams of carbs per 100 grams of powder, while the FDA claims it has 11 grams. This “mislabeling,” in the eyes of the FDA, is enough to warrant a ban on sales.
The FDA issued an import alert on the formula in December 2002, banning it in the United States. But on Aug. 11, the FDA relaxed those rules by allowing individuals to bring in KetoCal for personal use. The company is still not allowed to sell it in the United States, so consumers are looking to Canada, where the formula is still sold.
While the FDA referred all questions to the import alert, the company says it is working with the FDA to resolve the dispute, which is really about who has the best way to measure ingredients.
“Basically, the method that the FDA uses is different than that of our parent company,” said Jennifer Devaney, neurology product manager for SHS North America, KetoCal’s U.S. producer. “We are working diligently with the FDA to reintroduce KetoCal to our U.S. patients. We gave (the FDA) a proposal … and we’re hoping to hear from them.”
Feeling desperate, Jeff Tracy, an advertising manager for SBC, took the family’s story to WISC-TV (Ch. 3) and WKOW (Ch. 27) earlier this summer. Some people responded by donating cans of the formula, which sells for about $26 per can in Canada. The Tracys’ insurance provider, Group Health Cooperative, won’t cover the formula because it’s not approved by the FDA. That’s standard industry practice, according to Dr. John Hansen, associate medical director for GHC.
“There’s no way we’re going to let a little issue with formula stand in his way,” Jeff Tracy said. “They don’t expect kids with his disease to live past two years. We’d just hate to see him stop thriving and doing so well.”
After the news reports, a pharmacist in Sauk County donated a case of formula, and Jeff Tracy picked some up at a hospital where a family member was having surgery. To avoid liability problems, the hospital asked that the Tracys to write a check to the hospital cafeteria. U.S. Sen. Russ Feingold, D-Wis., and Rep. Tammy Baldwin, D-Madison, have also been trying to help the family.
But the family still has plans to scrounge for the formula, if needed. They found a supply from a pharmacy in Montreal, and recently received their first shipment.
Before discovering KetoCal, the Tracys spent months concocting special baby foods in their kitchen, using a carbohydrate-free formula and adding things like walnut oil, thiamine and iron. The home brews tasted bad and Tyler showed no improvement.
“It was just such a hassle for us to be chemists,” Kristin Tracy said. “We attribute his whole success to this formula.”
Dr. Jon Wolff, Tyler’s doctor at the Waisman Center in Madison, agrees that KetoCal seems to be working, but he said Tyler still may suffer mental setbacks throughout his life. The Tracys know this, and know that his disease has led to mental retardation in other children.
As with many genetic diseases recently discovered, much is still a mystery with PDH deficiency. The disease, which comes from his mother’s genes, hasn’t affected his older brother, 3-year-old Austin, or his older sister, 5-year-old McKayla.
Beth Zupec-Kania, a ketogenic dietician at the Comprehensive Epilepsy Program at Children’s Hospital of Wisconsin in Milwaukee, said she starts up to four children every month on the ketogenic diet. KetoCal is appealing to dieticians like her, she said, because it’s much like a normal baby formula.
“The reason they created it was because there was nothing out there for these families, it’s an all-in-one formula,” she said. “I think it was a rash decision to pull it so quickly before learning of the effects that is has on children.”
Zupec-Kania said she’s had to take three kids off of KetoCal and put them on homebrews, and all have had problems with the switch.
“It’s a huge inconvenience. All three children did worse when I switched them over to the other formula,” she said. “I had one child that ended up in the hospital because of the switch.”
Patients who start the diet, developed in the 1920s, begin by fasting for a day or so to burn stored glucose, after which the body begins to burn fat for energy instead.
Researchers from Johns Hopkins Hospital found that the diet ended seizures in some children, and others suffered less than half as many seizures for up to six years after the diet was stopped. But why the diet seems to work for kids with PDH deficiency, like Tyler, is unknown.
“His disease has nothing to do with seizures,” said Sandy Van Calcar, Tyler’s nutritionist at the Waisman Center. “He cannot utilize carbohydrate, there’s an enzyme block. If you put carbohydrate into his system, it hits the block and it produces a lot of lactic acid, and too much can be fatal.”
Van Calcar said the ketogenic diet helps children who have run out of other options.
“The majority of kids who would use KetoCal have intractable seizures, meaning the drugs don’t work,” she said. “Before they had all these drugs, they used to use the ketogenic diet as the only way to treat seizures. Now, they try it if the drugs don’t work.”
The diet had a surge in interest following a 1997 TV movie, “First Do No Harm,” about a family struggling with their son’s epilepsy. The movie was written and produced by UW-Madison alum Jim Abrahams, whose son Charlie has epilepsy. Abrahams founded The Charlie Foundation in 1994 to promote the diet as a way to treat epilepsy.
“That’s when physicians regained interest in (the diet),” said UW Associate Professor Carl Stafstrom, a neurology researcher who also works with The Charlie Foundation. “Some of us want to use it sooner rather than as a last resort.”
Both Van Calcar and Zupec-Kania agree that KetoCal’s appeal comes from the fact that it only needs to be mixed with water. Other alternatives – and there aren’t many – involve mixing, measuring and weighing ingredients, which are not always the easiest to stomach.
Tyler can’t stand, walk or crawl, but the Tracys are hopeful his disease won’t keep him from reaching those goals.
“He’s gone from a puddle; he’s gained weight, he rolls over, all these things our child would never do,” Kristin Tracy said.
“He’ll never be off this type of diet, but you never want to say never,” Jeff Tracy said.