Greenwich family determined to defeat rare childhood disease
Published 3:59 pm, Saturday, October 14, 2017
GREENWICH — For the family of Greenwich residents Andrea and Phil Marella, the fight against Niemann-Pick type C disease has always been deeply personal.
The ailment, sometimes referred to as “children’s Alzheimer’s disease,” is a fatal cholesterol storage disease affecting children. The couple’s daughter Dana had it, and, by the time she died in 2013 at age 19, she was confined to a wheelchair and no longer able to talk. Their son Andrew, who is 18, has it too and needs medication to prevent seizures.
To have two of their four children afflicted with the exceptionally rare disease has inspired the couple to fight. They formed the Dana’s Angels Research Trust in 2002 to raise money to research Niemann-Pick type C and find better treatment and a cure. In that time, close to $4.25 million has been raised and major advances have been made.
“As a parent you have to keep in mind that nothing is fast enough,” Phil Marella said. “We want a cure yesterday. But there are so many brilliant researchers working on this. This is the gene that controls cholesterol metabolism within every cell of every person’s body.
“It’s one of the original building blocks of mammalian life. Because cholesterol is related to so many other disorders, like Alzheimer’s, like heart disease, like stroke and even viruses like Ebola or HIV, brilliant people are on this.”
“It’s a very difficult thing for any parent,” Andrea Marella said. “We rely on the kindness and generosity of people around us. That gives us our strength. Our church. Our friends. We get such support. It still amazes us that people come out and support our cause. This is not a well-known disease.”
To keep the fight going, DART has been a major force, uniting the Marella family with other families dealing with Niemann-Pick type C disease in a community of motivated, dedicated parents.
DART has held a yearly gala for the last 12 years. The next one will be held Nov. 11 at The Palace Theater in Stamford with a performance by country music superstar Hunter Hayes. The gala has had major headliners in the past, including Smokey Robinson, The Beach Boys, Frankie Valli, Gladys Knight and Greenwich’s own Rob Mathes.
A Grammy nominee and the winner of both a People’s Choice and a Country Music Award, Hayes has a new album coming soon and will be performing hits from his smash record “The 21 Project.” Tickets are available at www.dartconcerts.org, www.danasangels.org, or by calling 203-325-4466.
According to the Marellas, there are only 200 known cases of Niemann-Pick type C disease in the United States and fewer than 700 in the world, with more cases either undiagnosed or misdiagnosed.
Progress is being made and the goal is to push it even further. The couple said the difference can be seen in their son, who, while he requires several medications to manage seizures and has trouble walking and swallowing, is doing well overall. When she was 18, Dana was confined to her wheelchair and required constant care, something that has not yet happened to Andrew, who got treatment and medications at a younger age than she initially did.
“He’s doing absolutely terrific,” Andrea Marella said. “What’s so sad is that after Dana passed, a couple weeks later he started having seizures and they’ve continued for four years now, averaging one a day. He was starting out with 10 or 12 a day so we’ve been able to control it.”
Andrew is attending school in New York through the Blythedale Children’s Hospital While he is slowed by the four medications needed for the seizures, the family said the treatment for Niemann-Pick type C has “dramatically changed the slope of the disease and Andrew’s progression.”
The family is hopeful about a drug, VTS-270 that is in clinical trials. It has been used as a delivery for other drugs, but with Niemann-Pick type C disease patients, it can act as a sponge and cause cells to give up extra cholesterol. The family said initial results are extremely promising, including on Andrew, as his decline over the last few years has been minimal.
“It is doing amazing things,” Phil Marella said. “It is dramatically slowing the progression…They call this the Niemann-Pick community’s drug, because we discovered it. We pushed it forward.”
With several drug being looked at, the Marellas say there are many promising leads toward a breakthrough, which could have huge impact far beyond Niemann-Pick type C disease.
“The research has shown that if we can find a cure for Niemann-Pick type C disease, we will have better treatments for Alzheimer’s disease and heart disease and HIV/AIDS,” Andrea Marella said.
Through DART, the Marellas are helping to fund that research, along with other foundations nationwide. The goal is to create a drug cocktail, similar to what is used to fight HIV.
“It’s not just about doing charitable good,” Phil Marella said. “People want to know their money is actually creating results, just like you would in a business plan.
“I think we’re able to show that. We have other compounds that are in our pipeline, which is why we’re continuing to do the fundraising. It’s so important. We have so much more to work on than we have funds available.”
Andrea Marella added, “People like donating to our cause because they see we are on top of where the money is going. We know where the science is headed. The dollars are going to go where they need to go.”