NPC-impacted Marella Family Bravely Continues its Challenge with Virtual Charity Walk Sep 26-Oct 03
“Success is not final, failure is not fatal: it is the courage to continue that counts.”―Winston S. Churchill
Dana Jesse Marella died peacefully on July 12, 2013 from complications resulting from Niemann-Pick type C, a neurodegenerative disease. She fought a courageous battle for 12 years and was only 11 days from celebrating her 20th birthday. Once an energetic, happy little girl, Dana eventually lost all her abilities and was confined to a wheelchair. She was unable to walk, talk, had a feeding tube and then needed a tracheostomy. Despite her severe challenges and numerous hospitalizations, she never lost her sweet nature, always reaching to hold a hand, making her so deeply loved by all who knew her. Her strength and perseverance were a constant inspiration and taught people the true meaning of life and to appreciate each day.
Now, the courageous Marella family’s youngest child, Andrew, 21, is also battling the ravages of NPC, and experiences seizures along with walking and swallowing issues. However, Andrew has benefited from two experimental medications and has been a patient in the clinical trial of Adrabetadex for almost seven years.
In 2002 and in honor of Dana, the Marella family led by Phil and Andrea, founded Dana’s Angels Research Trust (DART), an all-volunteer charity that has raised about $5 million to help in the fight. Already underway for pre-registration, and for the safety of supporters and volunteers, the DART TO THE FINISH annual charity walk will be a “Virtual Walk” kicking off September 26 till October 03, 2020.
Andrew’s father Phil and mother Andrea suggest: “We encourage you to walk around Tods Point (in Old Greenwich, CT) yourself, or in small, socially distanced groups for the invigorating two-mile walk around beautiful Tods Point. Of course, you can now do your walk anywhere; around your own neighborhood (from Connecticut to California), or on a treadmill at the gym or at home. We’ve added a ‘rewards’ program to encourage adult referrals and to benefit some of our local restaurants who have been long standing supporters of DART. So please reach out to your family and friends, and encourage them to sign up and support us. Urgent funds are still needed and the children are counting on us all to continue the amazing progress in NPC research and treatment trials.”
As for what Phil and Andrea suggest for other families new to dealing with neurodegenerative diseases like NPC, they offer several supportive tips and tools:
1) With rare diseases like Niemann-Pick type C (NPC), the first challenge is getting an accurate diagnosis. Too many primary care doctors know very little about rare diseases. Also, patients with certain symptoms are sent to a specialist for those symptoms, but too often the specialist does not know how to diagnose the underlying condition. In the case of NPC, the average time from first signs of the disease to diagnosis is over four years. Sadly, over that four-year span, a disease like NPC can progress dramatically. In our case, with access to all of the medical resources in the NYC metro area, it took over three years to have our daughter Dana diagnosed. So as my first advice to a family facing a diagnosis challenge, I would recommend that they see a genetic specialist.
2) Our daughter Dana was diagnosed by an exceptional pediatric neurologist who was familiar with the NPC. Listening to other families’ stories with NPC and other rare diseases, however, I think whenever a patient has difficulty getting a diagnosis, geneticists seem to have been a faster route to an answer. Many rare diseases are genetic in nature and geneticists seem, perhaps logically, to be more aware of these diseases. Our youngest child, Andrew, was also diagnosed with NPC, but his diagnosis was simpler, but no less devastating.
3) Once someone learns of a rare disease diagnosis, I would expect that their doctor should be able to point them in the direction of patient care organizations that can provide information on expectations, care and possible treatments. Many such organizations are very involved in funding research as well and have the knowledge base of other families for information and support. There are also good online resources for clinical trials such as ClinicalTrials.gov where a family can learn about potential therapies.
4) Often, one of the greatest challenges in caring for a child with a rare disease is that there can be wide differences in the symptoms. Every child is unique, so it is important to determine what care will benefit the child. Then since most of these diseases are chronic, you need to develop regimens to assure constant exercise of that care to keep a child healthy. This is even more challenging with a progressive disease because you need to constantly revaluate what care the child needs and how best to provide it.
5) Another challenge is keeping the patient focused on a positive future. Our son Andrew and some of the other NPC patients who have had the benefit of our experimental treatments are also more cognizant of their affliction and what it means. So it is a challenge to keep them feeling good about themselves and their future. In Andrew’s case, he also knows that NPC took his sister Dana. Fortunately for us, we feel the future for Andrew and many of the other NPC kids is good and we can emphasize that to him daily.
6) And, then as a parent and caregiver, you need to develop your own coping strategies. For us, first would have to be our faith and the support of our family and friends. But the support of our community has also been overwhelming as we try to be a part of the solution with our research charity, Dana’s Angels Research Trust. It was helpful for us to get very involved in the NPC community and try to help bring forward the science and potential treatments.
Phil Marella concludes in a positive way: “Being engaged with the other family charities and the brilliant researchers on the front lines of the fight keeps you focused on the progress. It can never happen fast enough for a parent of a sick child, but helping to push things along as quickly as possible gives you hope for a better future.”
It does take courage to continue to fight.