NORD News for June - The Voice of the Community

Guest post by NORD

Marshall Summar, MD, Is Named Chairman Of NORD’s Board of Directors

Marshall L. Summar, MD, has been named chairman of the NORD board of directors, replacing interim chairman Sheldon Schuster, PhD, who will serve as vice chairman. Dr. Summar is chief of the Division of Genetics and Metabolism and the Margaret O’Malley Chair of Molecular Genetics at Children’s National Health System.

He joined Children’s National from Vanderbilt University School of Medicine, where he directed the program in translational genetics and started the inborn errors of metabolism program. Dr. Summar is board-certified in pediatrics, clinical genetics and biochemical genetics.

Dr. Summar is an international expert in inborn errors of metabolism, particularly those in the urea cycle. He is an expert in translational studies, taking basic molecular genetics research and developing direct clinical applications.  

Dr. Summar serves on the editorial board of The Journal of Pediatrics and is president of the board of the Society for Inherited Metabolic Disorders. He serves on the National Institutes of Health study section for the CETT program and the National Human Genetic Research Institute Fellowship Training Program Board.

NORD Applauds Senate For Authorizing Medical Foods Coverage For The Military

NORD has issued a statement applauding the U.S. Senate for authorizing medical foods coverage in the National Defense Authorization Act for Fiscal Year 2017 (S.2943). The Senate bill must now be harmonized with a version passed by the House of Representatives last month.

“This is an important step to receive large payor coverage of medical foods, and we hope it will accelerate getting other payors to cover the services,” said Martha Rinker, vice president of public policy at NORD. “On behalf of the 30 million Americans we represent, NORD applauds and thanks Chairman John McCain, Ranking Member Jack Reed and Senator Lindsey Grham of the Armed Services Committee for their leadership and commitment to providing military families with the best care possible.”

Medical foods are foods that are specially formulated and are medically necessary for the management of many digestive and inherited metabolic disorders. When these diseases, such as phenylketonuria or eosinophilic esophagitis, are left untreated, the medical consequences may be significant, often permanent and costly.  Because access to these medically necessary treatments is an issue for many people with rare diseases, NORD has strongly advocated on behalf of coverage for medical foods.

Until now, coverage has been routinely denied by TRICARE, a health care program of the U.S. Department of Defense Military Health System. NORD, several of its advocacy partners, and physician groups such as the pediatric gastroenterologists met with the Armed Services Committee and advocated on behalf of TRICARE enrollees and families who rely on medical foods for the treatment and management of their rare diseases.

“Most private and public payors historically have not covered medically necessary food for digestive and inherited metabolic disorders, or would only cover medical foods delivered through a feeding tube or device,” Rinker noted. “These major treatment modalities are unaffordable to many families when coverage is denied. We celebrate this win for the rare disease community and will continue to advocate for broader coverage until all individuals have access to the same benefit.”

In May of this year, FDA issued a final guidance document on definition and labeling of medical foods entitled “Frequently Asked Questions About Medical Foods: Second Edition.”

Need a Speaker for Your Classroom or Event? Contact NORD

Working with its 250 member organizations and their members, NORD has established a Patient/Caregiver Speakers Bureau to provide speakers for classroom or community events. The intent is to promote awareness of rare diseases and the challenges of living with a rare disease.

Educators or event organizers may write to to request a speaker. NORD will match patients and caregivers who are experienced public speakers and eager to share their stories with opportunities in their local area.

In particular, opportunities to speak in the classroom in a school or university setting would be very welcome. The Speakers Bureau is part of NORD’s educational outreach with the ultimate aim of promoting earlier diagnosis and better care for patients through educating current and future healthcare professionals.


AMEN Support & Mount Sinai Beth Israel Hospital Present MEN Seminar
On Friday, July 22, AMEN (American Multiple Endocrine Neoplasia) Support and Mount Sinal Beth Israel Hospital in New York City will partner to present a seminar in which multiple endocrine neoplasia medical experts will discuss the latest in MEN research and surgeries.  This is part of a series of free educational programs for MEN patients, their families and caregivers.  For more information click here.

Fat Disorders Research Society Offers Nine Hours of CME Credits
The Fat Disorders Research Society is offering nine hours of CME credit with a program of 18 videos (nine hours total viewing time) on topics related to lipedema and Dercum’s disease. The FDRS is doing this in partnership with the Academy for Continued Healthcare Learning, which is accredited by ACCME to provide continuing medical education for physicians. Lipedema is similar to rare diseases that have atypical fat distribution such as Dercum’s, lipodystrophies, primary lymphedemas, Madelung’s disease, and FML (familial multiple lipomatosis). These diseases are very different from obesity but are not always recognized as such.

Hereditary Neuropathy Foundation Plans Charcot-Marie-Tooth Summit
The Hereditary Neuropathy Foundation is planning the first-ever Patient-Centered Charcot-Marie-Tooth Summit to take place in New York City on October 6. The event will bring together patients, caregivers, researchers, clinicians, industry and advocates. For more information, click here.

Melorheostosis Association Plans Conference for Patients, Clinicians & Researchers
The 10th Melorheostosis Conference will take place October 14-16 in Rochester, MN. This event draws together patients, clinicians and researchers to learn the latest about this disease and its treatment. Melorheostosis is a rare and progressive disorder characterized by thickening of the cortical bone. It affects both bone and soft tissue growth and development.

International Pemphigus & Pemphigoid Foundation Advisor Publishes Article
Dr. Paul Edwards, a member of the IPPF Dental Advisory Council, wrote an article for the Journal of Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology about the benefits of health care professionals partnering with patient support and advocacy organizations.  “Patient support and advocacy organizations are motivated by goals that closely parallel our objectives as health care professionals,” Dr. Edwards notes in the article.

Alpha-1 Foundation is Accepting Applications for Gordon L. Snider Award
August 5th is the deadline for submitting applications for the Gordon L. Snider Award, which honors the memory of one of the leading experts on Alpha-1 antitrypsin deficiency. The award provides career development support for young investigators who have continued to conduct research (basic or clinical) in AATD-related lung or liver disease after completion of their postdoctoral fellowship. Two awards of $75,000 per year for three years will be presented.

Pancreatic Cancer Action Network Advisors Scrutinize Clinical Trial Trends
Advisors to the Pancreatic Cancer Action Network, in collaboration with Jordan Berlin, MD, of Vanderbilt-Ingram Cancer Center, have conducted a rigorous analysis of 25 years of clinical trial data in an article published in the Journal of the American Medical Association (JAMA) Oncology. The purpose was to identify promising avenues for future research.

CMTC-OVM US Annual Conference to Take Place July 23rd
The CMTC-OVM Annual Conference, to take place in Columbus, Ohio, will feature presentations by physicians from the fields of dermatology, ophthalmology, and genetics. There will be clinical evaluations by attending physicians, as well as follow-up consultation with a registered nurse. Read about CMTC and other conditions sometimes associated with it. 

LAM Foundation Partners with Rare Lung Disease Consortium to Present Scientific Conference
A congress of physician/scientists and patient advocates focused on rare lung diseases will take place Sept. 22-25 in Covington, KY, organized by the LAM Foundation and the Rare Lung Disease Consortium. Robert Kotloff, MD, of Cleveland Clinic will serve as Clinical Science Chair. William Parks, PhD, of Cedars-Sinai Medical Center, will serve as Basic Science Chair.

American Syringomyelia & Chiari Alliance Project Conference Set for July 21-24
ASAP’s Chiari and Syringomyelia Conference, to take place in San Francisco July 21-24, will feature information from leading medical experts and opportunities for patients and family members to connect and network with others.

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