A local family fights a rare disease and seemingly insurmountable odds - GC
Greenwich
have been living with the harsh reality that not one -- but two -- of
their four children were afflicted with Niemann-Pick Type C (NPC), a
rare, degenerative and potentially fatal disease that eventually leads
to the inability to talk, speak or swallow and that affects school-age
children.
The Marellas explain that with just 200 cases diagnosed in the U.S. to
date, it is a challenge to secure the research and funding support
they need in their search for a cure for NPC.
Greenwich Citizen spoke with Phil and Andrea Marella about their
ongoing efforts.
What is Niemann-Pick disease?
Niemann-Pick Type C disease is a rare, genetic affliction that causes
the progressive deterioration of the nervous system. It usually
affects children of school age by interfering with their ability to
metabolize cholesterol, which accumulates within the liver, spleen
and, particularly, in the brain. This leads to a series of
neurological problems, eventually leading to the inability to walk,
speak and swallow. Generally, children have not lived past their early
teenage years.
What was your initial reaction when you learned of your daughter
Dana's diagnosis?
Naturally, we were in shock. You read about these types of stories but
you never imagine it can actually happen to you. Dana was only 8 years
old and such an active and beautiful little girl that the thought of
her steady deterioration and eventual death was inconceivable. After
crying for what seemed like an eternity, we realized that we had to do
something. We couldn't just sit back and watch.
Following her diagnosis, you created Dana's Angels Research Trust, or
DART. Describe why you formed the organization and what its objectives
are.
We created DART when I was approached by an organization at Dana's
school, Parkway, called Kids With a Purpose. They wanted to donate the
year-end money they had raised to help find a cure for Dana's disease.
That was in 2002, and we have been actively fundraising ever since.
From school activities to large galas, we have raised about $1.5
million to date and have funded numerous studies at major medical
institutions around the country.
Three years later, in 2005, you learned your son Andrew has NPC. How
did you react? How was it different from receiving Dana's diagnosis?
We had, for a long while, suspected that Andrew had NPC since he, too,
had an enlarged spleen when he was a baby. We had hoped and prayed
that he was healthy, but when the drug trial for Zavesca was about to
begin, we knew that we had to know for sure. We had Andrew tested and
found out two weeks later. Yet, neither he nor Dana were actually in
the trial - Dana's condition was too advanced and Andrew was too
late.
Having watched one child deteriorate and knowing that another is
stricken with the same fate is horrifying for any parent.
It was almost worse, because we'd already watched the horrible reality
of what the disease does to children.
How are Dana and Andrew doing today?
We thank God that Andrew is doing well and has been on Zavesca since
he was 5. He is 10 and when Dana was 10, she was already in a
wheelchair.
Dana is now 16 and severely handicapped. She no longer walks or talks,
eats solely through a feeding tube in her stomach, receives breathing
treatments many times a day and battles seizures. She requires
constant care. Andrew attends school like any other child, plays
baseball, has a great sense of humor and enjoys his friends. They are
both on two experimental therapies that are not cures. It is buying us
time until a cure or proven treatment is found. But we are close.
Researchers are on the brink of finding some promising therapies for
the kids, but it is up to the families to provide the funding and keep
the studies moving forward. When you are dealing with an orphan
disease (a very rare disease that doesn't get much support or
attention) like NPC that receives very limited funding, the
responsibility falls on the families. That is why we must continue our
fundraising efforts and rely on the generosity of others. You gain
such strength and perseverance when your children's lives are at
stake.
Phil recently was given time in front of the Food and Drug
Administration. How were you able to make that happen?
The FDA convened an Advisory Panel hearing on the application by
Actelion Pharmaceuticals for the drug Zaveska; they permit a one-hour
session for public comment at this type of hearing. Phil, as a trustee
of DART, requested and was granted by the FDA an opportunity to speak.
In an effort to make the greatest impact from the public session, DART
coordinated the opportunity with two other NPC patient groups, Cindy
Parseghian of the Ara Parseghian Medical Research Foundation and
Barbara Vorpahl of the National Niemann-Pick Disease Foundation. These
three were the only speakers in the public forum, and each person's
speaking time was limited to seven minutes.
What did you hope to get out if it?
Our goal was to support the application for approval of Zaveska for
the treatment of NPC by providing first-hand patient evidence of its
effectiveness and its limited side-effects. We wanted to help the FDA
understand the quality of life issues of living with NPC, and how
Zavesca is positively impacting those quality of life issues.
What was the FDA's reaction, and what was the outcome?
Unfortunately, in mid-March the FDA advised Actelion that they would
not yet approve Zavesca for NPC; that more definitive proof is
required by the law. We are hopeful that further study efforts will
lead to future approval.
The consequence of the FDA's decision is that too many children with
NPC will not be on Zavesca. It is extremely expensive as with all
treatments for rare diseases, and while perhaps 25 percent of NPC
patients, including Dana and Andrew, are getting Zaveska "off
label" (not specifically authorized for NPC) through their insurance,
far too many children have to go without it.
The movie "Extraordinary Measures," which came out in January,
profiles a family's mission to save their children from the often-
fatal, genetic disorder Pompe disease. In the film, the husband,
played by Brendan Frazer, teams up with a specialist to form a bio-
tech company and develop a cure.
You have said that you've received calls from friends noting the
similarities in the movie with your situation - and people have even
commented that your husband looks like Brendan Frazer.
The story is similar, with the exception that for NPC, one drug alone
is unlikely to provide the necessary impact to arrest the progression
of the disease. DART is part of a collaborative effort to develop a
drug cocktail for NPC, and our goal is to have it in clinical trial by
2011.
The collaboration, called SOAR-NPC (for Support of Accelerated
Research), is funding research by four labs, one each at Mt. Sinai
School of Medicine in Manhattan, Albert Einstein College of Medicine
in the Bronx, Washington University School of Medicine in St. Louis
and Oxford University in England.
Unlike what takes place in the traditional academic research process,
these four labs are working closely together, sharing information and
making the best use of their complementary expertise. Additionally,
Dr. Forbes Porter's lab at the National Institutes of Health Clinical
Center's National Institute of Child Health and Human Development has
been doing an observational study of NPC for almost four years and is
undergoing the first trial of a compound related to SOAR's drug
cocktail.
Recently, the efforts and achievements of SOAR were recognized by the
NIH. The NIH's Office of Rare Disease Research, through a new program
called Therapeutics for Rare and Neglected Diseases (TRND) is going to
provide the SOAR effort with the following additional resources: a
fifth principal investigator from the NIH's Chemical Genomics Center,
two project managers with pharmaceutical industry experience and an
additional lab at the NIH Clinical Center to begin the trial of SOAR's
second potential component of a drug cocktail.
This is tremendous news that will help SOAR accelerate its efforts
but, of course, DART and its collaboration partners still need to fund
the research at the four initial SOAR labs.
Did you see the movie? If so, what was your reaction?
Yes, we did "Extraordinary Measures," and it hit very close to home.
We, too, have worked relentlessly to save our children. In addition,
one of the striking similarities is how the parents got the
researchers engaged with the patients and families. One of the things
that the Niemann-Pick community has done is to make certain that the
researchers know many of the children and their families. They have
put a face to the disease. Therefore, they care as much about the kids
as they do the science.
We, too, believe that our story will have a happy ending. Although
ours is a different disease, our efforts, like theirs, will remain non-
stop. We work as a family unit and, with our strong faith, we are sure
that our children will eventually be healed
What is your Hollywood ending?
We truly believe that our children will survive this. While it has
taken a toll on our whole family, I feel especially sad for our two
healthy children who have had to deal with this ordeal. But we are
grateful to so many people, mostly in our community, who have reached
out to help support our foundation over the last eight years.
DART will hold a gala and concert to raise funds and awareness for
Niemann-Pick Type C Disease on May 14 featuring the legendary King of
Motown and Rock and Roll Hall of Famer, Smokey Robinson, along with
his 12-member band at the Palace Theater in Stamford.
Co-hosts for the event will be long-time DART supporters Kathie Lee
and Frank Gifford. Wine and hors d'oeuvres will be served at the gala
reception, which begins at 6:30 p.m. and will feature live and silent
auctions.
Tickets to the gala reception and concert are available by invitation
at DanasAngels.org, via e-mail at tic...@danasangels.org or at DART,
203-861-2063.