Connecticut Childhood/Young Adult Rare Diseases Speak Out for National Rare Disease Awareness Day

Tuesday, February 28th is National Rare Disease Day®

Greenwich, CT – (February 28, 2017) – Fibrolamellar. You have probably never heard of it, but it is a fatal liver cancer that strikes teens and young adults. You also most likely never heard of Niemann-Pick Type C disease (NPC) a debilitating and fatal genetic metabolic disorder affecting young children’s visual, cognitive and motor abilities
Both of these rare diseases are speaking out this week on behalf of the over 7000 rare diseases for National Rare Disease Day, where, here in Connecticut, statewide activities will generate awareness for rare diseases, which collectively affect 1 in 10 Americans, and are typically the costliest, and deadly.

John Hopper, Executive Director of the Fibrolamellar Cancer Foundation (FCF) www.fibrofoundation.org, and Phil Marella, Co-founder of Dana’s Angels Research Trust (DART) www.danasangels.org – both headquartered in Greenwich, CT have become visible spokespersons and among the national leaders for their respective rare disease categories in the state of Connecticut and across the nation.

John Hopper, who is also co-chair of the GI Cancers Alliance ( https://ruesch.georgetown.edu/GICancersAlliance) and Board director for the National Pancreas Foundation (www.pancreasfoundation.org) said, “Rare cancers represent a large percentage of all cancers, and the majority of rare diseases. Fibrolamellar is a very rare and aggressive liver cancer that attacks teens and young adults who are typically very healthy, yet rarely diagnosed until Stage IV. To date there are few curative treatments which is why sponsoring research is a priority for the foundation. We are proud to bring awareness to all of the rare diseases that affect so many people.”

Phil Marella,Trustee of DART said, “NPC is a rare cholesterol storage disease that takes children piece by piece before it takes their lives. Working with our collaborators in an effort called Support Of Accelerated Research for NPC (SOAR-NPC), DART has helped advance medical research, which includes five clinical drug trials, one ongoing in Phase 3 by Vtesse, Inc. with over 20 sites worldwide. Our son Andrew, 17 years old, who is in the Vtesse trial, has been one of the many beneficiaries of our efforts. While we have been slowing down the progression of the disease, we must stop it and ultimately find a cure.”

During the Hartford event, patients, caregivers, medical professionals, industry representatives and state legislators will share their stories and support for the estimated 357,000 residents living with a rare disease in Connecticut.

Government officials are backing both these foundation’s mission of building a collaborative community to support research, broaden education and build patient communities around rare diseases such as Fibrolamellar and Niemann-Pick Type C. Many important decisions related to rare diseases are made at the state level, including newborn screening; support services to help families cope with complex medical needs; an environment that promotes innovative medical research and product development; and insurance practices that assure patient access to medically-necessary therapies. The implementation of the Affordable Care Act has highlighted the increasingly important role of state policies and programs in assuring that the health care needs of Americans are addressed.

State Senator Scott Frantz said, “Ensuring quality health care for all includes those with rare diseases. Federal and State support should include studies that can result in more effective and less costly treatments for rare diseases. Affected families deserve no less attention than those families with more common and widespread illnesses.”

State Representative Fred Camillo added, “As someone whose family was personally affected by rare cancer, this day has special meaning. The day a parent is told their child has a rare disease such as fibrolamellar or niemann pick type c – with no cure- is the day their entire life is changed- forever. The emotional and financial stress impacts home, work, and community for these families. We, in Connecticut and beyond, need to collectively focus on ways to accelerate support, and leverage our assets to help organizations like FCF and DART.”

To hear more about Rare Disease Day here in Connecticut, tune into your local news on February 28th or attend the Hartford forum at the State Capital. Details are available at: http://www.rarediseaseday.us/events/locations