Connecticut Childhood/Young Adult Rare Diseases Speak Out for National Rare Disease Awareness Day (Feb. 28th)

Greenwich, Connecticut   February 24, 2017   Health News
(PRLEAP.COM) February 24, 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), and Phil Marella, Co-founder of Dana's Angels Research Trust (DART) - 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 and Board director for the National Pancreas Foundation 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

About Fibrolamellar Cancer Foundation:
FCF, a public 501c3 nonprofit organization based in Greenwich, CT, was founded in 2009 by 27-year-old Tucker Davis, who lost his life to the disease in 2010. The foundations mission is to:
  • fund and support research towards a cure
  • better educate health care professionals, patients, caregivers and all stakeholders
  • create and support a vibrant patient community.
  • To date, the foundation has funded nearly $6 million in research at major research institutions in the US and Internationally. 100% of donations go to research with all operating costs funded by the Charles and Marna Davis Foundation. www.fibrofoundation.org

    About Dana's Angels Research Trust:
    DART is a public 501c3nonprofit organization that was founded in 2002 by Andrea and Phil Marella in an effort to save the lives of two of their four children suffering from Niemann-Pick Type C disease-as well as the many others afflicted. Sadly, the Marella's daughter, Dana, at 19, passed away in the Summer of 2013. But the effort continues supporting pivotal NPC research; research that may also help millions of people suffering from Ebola, HIV/Aids, heart disease, stroke, Alzheimer's disease and other disorders that appear to be related to cholesterol metabolism. To date, DART, an all-volunteer organization, has raised over $4 million for NPC research.

    About Rare Disease Day:
    Rare Disease Day is an annual awareness day celebrated around the world dedicated to elevating public understanding of rare diseases and calling attention to the special challenges faced by patients. The goal of Rare Disease Day, organized by the National Organization for Rare Disorders (NORD)® (Danbury CT national headquarters) is to foster collaborative efforts across all stakeholders, especially government, to increase awareness, improve care support, encourage research, and advocate resources- financial and others- to address this growing population- in hopes for a healthier community.

    Facts About Rare Disease:
  • A rare or "orphan" disease in the United State is one affecting fewer than 200,000.
  • There are approximately 7,000 rare diseases, according to the National Institutes of Health (NIH).
  • Thirty million Americans or about 1 in 10 have a rare disease.
  • Currently there are only about 320 rare disease conditions that have an FDA approved treatment.
  • Two-thirds of people with rare disease are children and the diseases tend to be serious and lifelong.
  • At least 80% of rare diseases have a genetic component
  • Patients often have limited availability of information on their condition
  • People often face difficulty getting a clear diagnosis

  • Common challenges facing rare disease patients and families include but are not limited to:
  • Obtaining an accurate diagnosis
  • Limited treatment options
  • Gaining access to the treatment options that do exist
  • Difficulty finding physicians with experience in treating a particular rare disease.
  • The financial struggles related to the cost of treatments
  • Access to medical foods
  • Genetic discrimination
  • Reimbursement issues with insurance companies, especially related to off-label use
  • The transition from pediatric to adult care

  • For more information about Rare Disease Day in the U.S., go to www.RareDiseaseDay.us.
    For information about global activities, visit www.RareDiseaseDay.org).
    To search for information about rare diseases, visit NORD's website, www.RareDiseases.org.

    Fibrolamellar Cancer Foundation:
    20 Horseneck Lane, 2nd Floor, Greenwich, CT 06830
    T: 203-862-3196
    www.fibrofoundation.org

    Dana's Angels Research Trust
    15 East Putnam Ave., #117
    Greenwich, CT 06830
    203-861-2063
    Contact Information
    Greg Walsh
    Fibrolamellar Cancer Foundation
    203-292-6280
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