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Patient Advocates Discuss Challenges in Rare Disease Treatment

WASHINGTON — Sep 30, 2013

DIA-NORD Conference on Rare Diseases and Orphan Products to Feature Patients Discussing Challenges to Diagnosis and Treatment

WHAT: Thirty years after the adoption of the Orphan Drug Act, patients with rare diseases still face incredible obstacles. At the U.S. Conference on Rare Diseases and Orphan Products, with its theme of “The New Era in Health Care,” patients and patient advocates will discuss:

  • Getting an accurate diagnosis
  • Supporting research for and the development of treatments
  • Assuring patient access to appropriate treatment
  • Strengthening one’s ability to be a self-advocate

WHEN: Oct. 7, 9:45-11:15 a.m.

WHERE: Bethesda North Marriott Hotel & Conference Center, Bethesda, Md.

                  White Oak Room, Lower Level

WHO: Panelists include:

Lisa Schill, Noonan Syndrome Foundation,vice president and a founding member

Schill is the mother of Max, age 4, who is diagnosed with Noonan syndrome, a rare genetic disease with an estimated prevalence of 1 in 2,000 births.

Katheryn Elibri Frame, D.O., International Foundation for CDKL5 Research, president

After Frame’s daughter was diagnosed with CDKL5—a rare genetic disease with about 600 known cases in the world—Frame, a physician, and her husband helped start the International Foundation for CDKL5 Research.

Steve Mikita, Utah assistant attorney general; has spinal muscular atrophy

Mikita works on behalf of patients in the United States to raise awareness of the importance of the patient’s voice at every step along the drug development process. Spinal muscular atrophy (SMA) manifests in various degrees of severity, which all have in common general muscle wasting and mobility impairment. SMA is the most common genetic cause of infant death.

 

 

 

 

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ABOUT DIA: DIA is the global connector in the life sciences product development process. Our association of more than 18,000 members builds productive relationships by bringing together regulators, innovators and influencers to exchange knowledge and collaborate in an impartial setting. DIA’s network creates unparalleled opportunities for the exchange of knowledge and has the interdisciplinary experience to prepare for future developments. The dedicated efforts of DIA staff, members and speakers enable DIA to provide a comprehensive catalogue of conferences, workshops, training courses, scientific publications and educational materials. DIA is a global community representing thousands of stakeholders working together to bring safe and effective products to patients. DIA is an independent, nonprofit organization with its global center in Washington, D.C., USA; regional offices covering North and South America (Horsham, Penn., USA); Europe, North Africa and the Middle East (Basel, Switzerland); and Japan (Tokyo), India (Mumbai) and China (Beijing). For more information, visit www.diahome.org.

ABOUT NORD: NORD is a nonprofit organization established in 1983 by leaders of rare-disease patient organizations to represent all Americans affected by rare diseases. NORD provides programs of advocacy, education, research and patient/family services. It works closely with its approximately 200 member organizations representing people with specific rare diseases. NORD has offices in Washington, D.C.; Danbury, Conn.; and Boston. Learn more about NORD at www.rarediseases.org. Follow NORD on LinkedIn, TwitterYouTube and Facebook.