As the snow fell Saturday morning, 22-month-old Krystie Karl-Steiger lay on an examination table at the Phillips-Wagensteen building where, unannounced to her, her parents were anxiously awaiting the results of her blood test.
For more information about Tay-Sachs, go to www.tay-sachs.org.
To learn about Krystie Karl-Steiger and her journey to the University, go to www.caringbridge.org/visit/krystie.
For more information about efforts to cure the disease, go to www.curetay-sachs.org.
She and her fathers, Rick Karl and Bruce Steiger, are from Rancho Mirage, Calif. They came to the University in May with hope that a rare transplant procedure could cure a rare disease Krystie has, called Tay-Sachs.
Around 15 years ago, University doctors unsuccessfully attempted a similar procedure. This is the first attempt at the University since then, after several California doctors said they were unwilling to attempt it.
Tay-Sachs is a rare and fatal genetic disorder that occurs when a child is missing the Hex-A enzyme, according to the National Institutes of Health.
Without the enzyme, toxins can build up in the child’s brain cells, which causes damage to the nervous system – and ultimately death. The disease is always fatal, with a three- to five-year life expectancy.
Karl and Steiger tried for three years to have a child through surrogates and egg-donors before Krystie was born. When they found out about Krystie’s disease, Karl said their options were obvious.
“After six attempts and several hundred thousand dollars in the processes, and having a beautiful little kid, we kind of decided that intervention was the only right thing to do,” Karl said.
Krystie was born Jan. 26, 2006. As is common with Tay-Sachs, everything appeared normal for the first few months, but then things started to go wrong.
“We started noticing she wasn’t developing like other kids her age,” Steiger said.
MRIs and other tests began showing abnormalities in Krystie’s brain and a day before her first birthday; an ophthalmologist found “cherry-red spots” behind Krystie’s eyes – a tell-tale sign of Tay-Sachs.
Shortly after, a blood test revealed Tay-Sachs disease.
Krystie’s parents were drawn to the University when they found University professor of pediatric blood and marrow transplantation Paul Orchard online.
“I e-mailed him,” Steiger said. “He e-mailed back saying, ‘We’re always excited to hear about a new case. Give us a call.’ “
Karl, Steiger and Krystie arrived at the University in May for a blood transplant that attempted to replace the blood-producing cells of Krystie’s body with normal, healthy cells, Orchard said.
He said it was a unique strategy.
“I don’t know of anyone else who’s using the combination of drugs we are using in order to accomplish this,” he said.
Orchard said the outcome of the Tay-Sachs procedure the University did before was poor, and no new transplants took place. But recent advancements led the University to try a transplant again, Orchard said.
“Having designed some new therapies that we think may be less toxic, we have now opened up this protocol for kids with higher metabolic diseases like Tay-Sachs,” he said.
Karl and Steiger said they are fine with the method of treatment.
“In a way she’s a bit of an experiment, and we know that going in,” Karl said.
Along with Orchard, professor of pediatrics and neurology Lawrence Charnas has worked closely with Krystie’s care.
Charnas said University doctors chose to take up Krystie’s case because they were confident in their abilities to treat her.
“Most (parents) are told by their physicians to take the child home and keep them comfortable,” he said. “We’re much more aggressive in how we’ve approached her care because we attempted curative or stabilizing therapy which is not the standard of care in the country.”
Before coming to the University’s children’s hospital, Karl and Steiger brought Krystie to many hospitals in California.
“They didn’t offer any hope,” Karl said.
He and Steiger chose the University because it was one of the most approachable institutions in the country, Steiger said.
“It was one of the few places we talked to that actually get it and actually understand the disease,” he said. “It’s pretty rare. Most people have never even seen it. They’re familiar with it; they understand it.”
To help raise awareness of the disease, Karl said he became a member of the board of the Cure Tay-Sachs Foundation, an organization created this year to raise money to combat the disease.
Ken Bihn, the foundation’s president, said he became interested in Tay-Sachs after he found out his daughter had the disease.
Bihn met Karl and Steiger at a national Tay-Sachs conference in April.
Concerned about the lack of funding for disease research, Bihn said he started the foundation with the help of other Tay-Sachs parents in June.
Bihn said his goal for the foundation is simple.
“I want to cure it,” he said. “I want it to be gone and vanished from the planet.”
Since its inception, the Cure Tay-Sachs Foundation has raised about $280,000 for research.
Bihn said he thinks the disease can be cured soon.
“It might be 10 years away, but if we start moving today, we’ll get there in 10 years,” he said. “If we sit and do nothing, in 10 years the clock won’t be running.”
Orchard said that goal might be a bit lofty, but it’s important to continue doing research on the disease.
“It takes a long time to develop a clinical protocol,” he said. “People continue to be interested in the field and advance it, but progress is pretty slow.”
Today, 197 days post-transplant, Krystie is now producing the missing enzyme, but no one knows how effective it will be at this time, Karl said.
Treatment at the hospital will continue. Krystie and her family currently live in the Ronald McDonald House just off campus. They plan on living there possibly through 2008.
Orchard said he is optimistic about Krystie’s future, but questions still remain.
“I think there’s a good chance that she’s going to survive much longer than the kids who don’t get therapy,” he said. “The bigger question and the tougher question is, what’s her quality of life going to be and what is she going to be able to do?”
Karl and Steiger said they don’t regret their decision to go through the process, and they owe the doctors everything.
“They took a little risk in accepting Krystie,” Karl said. “They were pretty interested in seeing if they could improve her lifestyle – buy her a few years, perhaps, at the very least.”
Karl said he has one goal for Krystie.
“I want her one day to be at the Special Olympics, waving a pompom,” he said. “Just waving one pompom; I would consider that a tremendous success.”