Family Makes a Mission of Finding a Cure
Samantha Litke turns 18 in April, and doctors estimate that her life is about half over.
The slender Encino teen was told about a year ago she had an degenerative neuromuscular disease. Wheelchair by age 20, a doctor said. Life expectancy: 36.
The news sent her adoptive parents into shock and despair. But soon after, the Litkes began waging a desperate war against the rare disease, Friedreich’s ataxia (or F-A for short). They have raised nearly $100,000 for research in less than a year--all of it earmarked for an Italian geneticist who is working on a cure.
And they unearthed the original, handwritten notes of the German doctor, Nikolaus Friedreich, who discovered the disease in 1864. The notes were buried, untranslated, deep in the archives of the UCLA medical library.
“The case with this family is rather unique,” said geneticist Massimo Pandolfo, who has been conducting research on the disease at the Baylor College of Medicine in Houston. Two weeks ago, he published an article in the journal Science, announcing that the gene that causes F-A had been isolated, a major step, it is hoped, toward finding a treatment. “The mother calls me every week, offering support, trying to understand what’s happening. And in terms of fund-raising, this family has gone all the way.”
Rochelle Litke, Sam’s mom, is willing to go even further.
“We’re sending him a $50,000 grant on April 1,” she said. “I called him and I said: ‘Dr. P! I’ll send you a bonus if you find a cure in three months!’ Of course I was serious. When something like this hits home, let me tell you, it hits hard.”
The family’s campaign is an example of what can happen when private citizens help cash-strapped scientists seek treatments for disease. Efforts include the $25 million raised by the Assn. for the Cure of Cancer of the Prostate, founded by former Wall Street wizard Michael Milken after he was found to have prostate cancer, and the $1-million endowment for the study of spinal cord injuries promised to the Reeve-Irvine Research Center at UC Irvine by philanthropist Joan Irvine Smith and actor Christopher Reeve, who last May suffered a paralyzing injury.
But other private fund-raising initiatives--such as the Litkes’ and a research foundation created by a Hidden Hills couple whose daughter was afflicted by another obscure neuromuscular disease--can make a huge difference, researchers say, providing critical seed money to spark research that otherwise might lag.
Sam’s symptoms are already visible. Her eyes tilt back in her head. She has difficulty walking. Her speech is slurred, and spasms cause her head to jerk and her hands to tremble. If no treatment is found, it could get worse. Her spine may start to curve. Her heart may weaken and eventually give out.
Her family feels the crush of time.
Marty Litke, Samantha’s father, a well-connected talent manager and television producer, has used his ties to raise awareness of the disease and his daughter’s plight.
TV personality Sarah Purcell showed up at a bowl-a-thon this month in Canoga Park, at which the Litkes and friends raised nearly $6,000. And comic Jerry Lewis, spokesman for the Muscular Dystrophy Assn., called Sam to offer his support.
“Doctors told us the disease moves slowly,” Marty Litke said. “So the research must race--it has to go fast. We’re trying to speed it up. . . . We don’t want to see her in a wheelchair.”
That could happen by the time Sam turns 20. The idea takes some of the fun out of birthdays, she said.
“For me, that’s what the future represents--a wheelchair,” she said, sipping a cup of orange juice and smoking a Parliament on the patio of a Starbucks coffee shop in Encino. She knows she shouldn’t smoke, but does anyway. Quitting is within her control, unlike so many other things.
She can walk short distances, but only if there’s an arm to help her. On longer outings, she reluctantly uses her teal-green walker, which resembles a stroller. She says she hates it, but won’t take a trip without it. She can’t get up stairs without help and occasionally walks into walls or bumps into things. When her mother sees that, Sam said, she erupts in tears.
Friedreich’s ataxia occurs in children who inherit two defective genes, one from each parent. Because having a single defective gene produces no symptoms, parents often have no idea they are carriers of a disease until it shows up in one or more of their children. With the identification of the F-A gene, doctors say they can now test people who may be carriers.
As in Sam’s case, the disease sometimes goes undiagnosed until late adolescence, even though symptoms can appear earlier. Sam appeared physically uncoordinated at an early age, but doctors didn’t think it was unusual--until she fell down a flight of stairs in 1994.
When her condition was diagnosed in October 1994, she looked at the doctor in disbelief. “You’re telling me that I’m one of Jerry’s kids?” she asked.
The doctor nodded. Her parents burst into tears. Then they went to the public library to find out everything they could about the disease.
A librarian eventually sent them to UCLA. With help from the staff of the university medical library, Sam’s mother discovered that Friedreich’s original notes on the disease were in the library’s archives.
“It took two weeks to find the book,” Rochelle Litke said. “It was dusty and falling apart, written in 1864 in German. I made copies and started looking for a translator. I said to myself, ‘I have to know what Dr. Friedreich found out.’ ” She sent a copy to Pandolfo.
Many families who have members stricken by tragic, long-term illnesses get involved in fund-raising and support health charities and research foundations. But some have the resources to take it a step further, said Susan Delatte, district director of the Muscular Dystrophy Assn.’s Los Angeles chapter.
“When any parent is told their child has an incurable disease, the typical reaction is shock and grief,” Delatte said. “Then, there’s a certain amount of acceptance. Families start getting into the basics of how they’re going to alter their lifestyles,” Delatte said.
“The Litkes’ reality is somewhat different. When they got the news about Sam, they took the extra step, began raising their own funds. They’re a case of a family that just won’t accept the reality.”
Other families have also refused to accept the status quo.
In 1984, George and Pam Smith of Hidden Hills founded the Ataxia Telangiectasia (known simply as A-T) Medical Research Foundation, and have raised $2.5 million for research into a different kind of ataxia attacking their daughter, Rebecca, now 18. Last year, researchers at UCLA and Tel Aviv University isolated the gene that causes the disease, which has many of the same symptoms as F-A.
“We went to the National Institutes of Health about 12 years ago, looking for funding, and the doctors there told us they didn’t want to get involved so early on, in research,” partly because of the obscurity of the disease, Pam Smith said. “They won’t get involved at points A and B, but, they said, if we could raise some seed money, they’d get involved later on--for instance, after the gene is cloned.”
She added: “Someone who raises $90,000 or $100,000, maybe that doesn’t sound like much. But one $10,000 grant to a researcher means he can hire an extra research assistant. That seed money can make a phenomenal difference.”
Sam’s parents have tried to take the worry off her shoulders, and for the most part, Sam lets them. She’s spending her junior year of high school at home in an independent study program. Getting around at school would have been too difficult, despite the efforts of her best friend, Alexandra Sears, and boyfriend, Adam Fishman, who keep her active socially.
The concern of so many people and the myriad efforts on her behalf mean much to her. But still, she said, her reality is different from that of her parents and her friends, who are working to save her.
“I don’t feel this really happening to me,” she said. “The clock is running, and nothing is happening. I mean, they cloned that gene, and that’s great, but what does that do to me, right now?”
