A Legacy of Love
For years Andrea and Phil Marella lobbied for the approval of clinical drug trials that might have saved their daughter, Dana, from a rare disease. Though it’s too late now for Dana, the Marellas are fighting harder than ever
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The Search for Answers
Dana’s diagnosis was probably the greatest shock the couple experienced. Phil and Andrea had known something was wrong with their daughter for several years. She was showing problems with balance, which they initially wrote off to clumsiness. But then she began having learning difficulties as well. She was also slightly slurring her words. And one of her feet was turned inward.
So began three years of looking for answers. One doctor after another told them not to worry, that they couldn’t find anything wrong, that Dana would outgrow this or that problem. Someone thought Lyme disease might be the culprit. And though Dana was indeed found to have Lyme, that wasn’t the answer. Another doctor misdiagnosed her as having a form of mental retardation.
Finally, someone referred them to Dr. Marc Patterson, then director of pediatric neurology at New York- Presbyterian Hospital and now with the Mayo Clinic in Minnesota. When they brought Dana to see him toward the end of 2001, Dr. Patterson required but a few minutes to come up with a preliminary diagnosis of Niemann-Pick Type C. The key indicator, and one that most doctors wouldn’t know to connect with this rare disease, was her inability to rapidly move her eyes up and down, or what is known as vertical supranuclear gaze palsy. A subsequent skin-cell test confirmed the bad news a few months later.
Niemann-Pick Type C is a recessive genetic disease. (Although it was once thought to be a variation of Niemann-Pick Type A and B, those are now known to be unrelated illnesses.) For a child to be affected, both parents must carry the mutation. For each child such a couple might have, the odds are one in four that their offspring will have the disease.
“We didn’t ask Dr. Patterson initially about the details,” remembers Andrea. “But my husband found information about it online, which probably was the worst thing to do, because I remember it was around Christmastime, and it was the worst Christmas, to read those words—‘Children rarely live past their early teens.’ Because then we knew what was in our future.
“Dana was seemingly healthy other than being clumsy and falling a lot. She was a chatty little girl, beautiful, went on play dates, had tons of friends, did karate, ballet. I would look at her and it was hard to imagine that was all going to be taken away from her. I remember putting her to bed at night and just staring at her while she was sleeping, thinking how could I ever imagine that this was all going to go away. And little by little it does.”
Andrea recalls sobbing for nights on end after the initial diagnosis. It was during this time that she and Dana traveled to Lourdes, France, as part of an annual pilgrimage with the Order of Malta, a lay Catholic group, to give the legendary curative waters a try. (Five years later, Phil and Andrew took the same journey.)
Not long after Andrea and Dana returned, the couple decided that they wanted to do more than simply hurt. “Finally we had to take control and just do something,” Andrea says.
That spring the kids at Parkway School, where Dana was a student, donated money for research to the Marellas, which led to the creation of the charity. In looking for how best to contribute to the fight, Phil and Andrea contacted the Ara Parseghian Medical Research Foundation and the National Niemann-Pick Disease Foundation, the biggest and best-established nonprofits devoted to finding a cure. (The former’s namesake is the onetime Notre Dame football coach who lost three grandchildren to the disease.)
Living in Greenwich, the couple thought fundraising seemed an obvious way that they could help. They also had skills that they felt could smooth the way in dealing with the powers-that-be to move research and other processes along. Naming the group Dana’s Angels, meanwhile, helped to personalize, and localize, their efforts. After all, people around town knew the Marellas and their kids. This was no distant and faceless disease. It was here, affecting a real child, right now.
The couple started small, holding a gathering at a private home to introduce themselves and their cause, then putting on some fundraising runs and a show and raffle at the school. Their first big benefit, in 2005, was a one-man show by Richard Dreyfuss, which was followed over the years with concerts by Rob Mathes, Smokey Robinson, Frankie Valli, Natalie Cole and last spring, the Beach Boys.
Pushing the Science Forward
Phil and Andrea divide the labor of running their charity, with each of them taking on the role that plays to their strengths. “Phil is the medical expert,” says Andrea. “He missed his calling. He should have been a doctor. And he puts it in words that everybody can understand. As the mom, I deal with people and try to encourage support and share our story. I’m more on the emotional side of what this disease does, and he’s more focused on the science.”
Which gives them both plenty to do in pressing their fight against Niemann-Pick Type C, whether it’s deploying volunteers to put on their fundraiser each year—this year’s Beach Boys concert raised more than $365,000—or persuading researchers and scientific institutions that are used to proceeding at their own measured pace into streamlining and stepping up their work.
“I see my role as constantly prodding the scientists to move from the lab to the bedside,” says Phil. “Scientists are incredibly detail-oriented. They discover something and they want to know why it works, to the tiniest detail. We don’t necessarily need that. There are a number of drugs out there in the world today that we believe are safe and we believe they are effective and don’t have a clue why they work….
“It’d be nice to really drill down and try to figure out why exactly a drug is working. But we can figure that out later, and sometimes you can’t. But right now if we really do think it’s safe and we do really think it’s effective, we need to get a trial designed and in front of the FDA and approved and going.”
Among other accomplishments, DART helped get clinical trials for Zavesca, the first drug to effectively delay symptoms of the disease, to move forward eight years ago when the studies became stalled by changes in the drugmaker’s ownership. Growing increasingly frustrated, Phil finally reached out to some members of the state’s congressional delegation, who in turn made inquiries with the company. “We didn’t want to irritate anybody,” Phil says. “But we knew that if the right people expressed some interest, that they were looking out for their constituents, that people would take notice.”
Dana’s Angels works with other nonprofits and family foundations involved in the fight against Niemann-Pick Type C in a group called Support of Accelerated Research (SOAR). Its purpose is to collaborate with researchers to speed the process of finding a cure, encouraging openness and cooperation between scientific camps and serving as a resource. Among other endeavors, SOAR is funding the efforts of four laboratories—Albert Einstein College of Medicine, Icahn School of Medicine at Mt. Sinai School, Washington University School of Medicine and Oxford University—to develop and proceed with a “cocktail” treatment of several drugs to combat Niemann-Pick Type C. In turn, those institutions have agreed to work closely together, sharing information and brainpower.
After some delays, the NIH has been slated to commence human trials of the drug cyclodextrin this fall, and the Marellas’ son Andrew is enrolled in the study. Cyclodextrin is not expected to be a cure per se, but holds the potential as the best therapy yet to halt Niemann-Pick Type C in its tracks, to help people manage the disease. The drug, which was to be administered through a spinal tap, has proven successful in animal studies at reducing the debilitating cholesterol and lipids that have built up in brain cells. Whether it will show beneficial results in humans is an open question.
In studying genetics at school, Andrew surprised his parents by writing a paper about the upcoming trials and his faith that the drug would keep him healthy. “This one actually has the potential of stopping the progression of the disease,” says his mother. “So there’s a lot of hope for his future.”
Hope. That’s the key word behind the Marellas’ work. Even with the loss of their daughter, Phil and Andrea are unbowed in their determination to fight on. “Dana’s death has just made us realize that our mission has to be even stronger,” says Andrea. “Now more than ever we have to make sure no more children die from this disease. Dana should be the last.”