--(BUSINESS WIRE)--BioNJ:
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WHO: |
BioNJ, The National Organization for Rare Disorders (NORD) and 16 New Jersey-based patient advocacy groups are joining forces for a unique educational event about rare diseases. | |
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WHAT: |
Rare Disease Day in New Jersey | |
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WHEN: |
Monday, March 4, 2013, from 11:30 a.m. to 12:30 p.m. |
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WHERE: |
Committee Room 11, 4th floor, Annex Building, State House, Trenton, NJ | |
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WHY: |
In the U.S., any disease affecting fewer than 200,000 people is considered rare. There are nearly 7,000 rare diseases affecting nearly 30 million Americans. In other words, almost one in ten Americans suffer from a rare disease. | |
| Besides dealing with their specific medical problems, people with rare diseases struggle to get a proper diagnosis, find information, and get treatment. The rarity of their conditions makes medical research more difficult. Since 1983, just over 400 orphan products have been developed treating fewer than 300 rare conditions. Unfortunately, this leaves millions without hope of a treatment that may improve their condition and their quality of life. |
SPEAKERS: Speakers at the event will include:
- New Jersey State Senator Anthony Bucco (R-25) will offer a resolution designating the last day of February as Rare Disease Day and honoring all New Jersey rare disease organizations.
- Shari Ungerleider, of Wayne, is the mother of a child who died of Tay-Sachs at age 4 1/2. Tay-Sachs is an autosomal recessive genetic disorder caused by the absence of a vital enzyme known as Hex-A. This missing enzyme causes cells to become damaged, resulting in progressive neurological disorders. Shari will share her story and focus on the need for pre-conception carrier screening. Shari is the Executive Vice-President of the National Tay-Sachs and Allied Diseases Association and Project Coordinator for the Jewish Genetic Disease Consortium.
- Susan Anderson, of Bridgewater, NJ is the mother of Erik, a teenager who was afflicted with several rare blood disorders (ITP, autoimmune neutropenia and hemolytic anemia) and even rarer neurological and pulmonary complications related to an underlying immune disorder. Erik died before his condition could be diagnosed. Erik and his family volunteered for research studies at the NIH which led to the discovery that Erik had a very unusual t-cell defect. Further research into this defect eventually led to a greater understanding of many patients with similar complications. Susan continues to be involved in patient support initiatives related to rare diseases and currently works in the Medical Affairs department at a small pharmaceutical company. She will focus on the difficult journey patients and families dealing with rare diseases face, and the importance of research into the ultra-rare diseases that still remain undiagnosed
- Brooke Foster, 11, of Englishtown, is afflicted with Mastocytosis, a rare disorder characterized by the overproduction of mast cells, and mast cell activation syndrome (MCAS), where even the normal number of mast cells are too easily activated by a trigger to release their contents, called mediators. These mediators can cause a variety of unpredictable symptoms in both children and adults, including skin rashes, flushing, abdominal pain, bloating, nausea, vomiting, headache, bone pain and skeletal lesions, and anaphylaxis. Brooke is a fifth grade Calvert homeschooler, who will speak for a few minutes on what it is like to live with a rare disease from a child’s perspective.
- Francois Nader, M.D., President and CEO of NPS Pharmaceuticals, will discuss his company’s groundbreaking efforts directed at short bowel syndrome (SBS). NPS recently launched Gattex® (teduglutide [rDNA origin]) for injection, the first long-term treatment for SBS in nearly 40 years.
- Debbie Hart, President and CEO of BioNJ, the trade association for New Jersey’s biotechnology industry.
- Mary Cobb, Senior Vice President with NORD, the leading umbrella organization providing advocacy, education, research and patient/family services for the rare disease community for 30 years.