Disability Etiquette

Introduction The United States Census Bureau reports that approximately 56.7 million Americans have a disability. This report is for anyone—with or without a disability—who wants to interact more effectively with people with disabilities. The Americans with Disabilities Act of 1990 was conceived with the goal of integrating people with disabilities into all aspects of life, particularly the workplace and the marketplace. Sensitivity toward people with disabilities is not only in the spirit of the ADA, […]

NORD’s RareEDU™ Launches Video Addressing a Topic Vital to Today’s Rare Disease Community, Gene Therapy: Your Questions Answered

Washington, D.C., July 19, 2018—The National Organization for Rare Disorders (NORD) today launched Gene Therapy: Your Questions Answered, a new video from its RareEDU educational program addressing some of the most commonly asked questions from patients and caregivers on the topic.  It is available for viewing here. “For 35 years, providing information and education to the rare disease community has been an integral part of our mission at NORD. Through RareEDU, we provide educational resources for patients and […]

Study Finds Facial Analysis Software Able to Identify Patients with Williams-Beuren Syndrome

A new study has shown that researchers have successfully used facial analysis technology and clinical information to successfully identify patients with Williams-Beuren syndrome, a rare condition that causes cardiovascular problems and intellectual disability. Though Williams-Beuren syndrome is a genetic condition, most case are not inherited. It affects about 1 in 7,500 to 10,000 people. People with the condition have distinctive facial features including puffiness around the eyes, a short nose with a broad tip, full […]

Endrew F. Supreme Court Case: Strengthening The Voices Of Families At IEP Meetings

Many parents have had an experience similar to the one faced by Endrew F.’s parents, in which their child’s IEP goals don’t vary each year and there is lack of progress. BY DIANA AUTIN, MARIA DOCHERTY AND LAUREN AGORATUS, M.A. The recent Supreme Court case, Endrew F. vs. Douglas County School District, has implications for parents participating in the IEP (Individualized Education Program) development for their child. The decision clarifies the rights of children with […]

The Sacrifices Rare Disease Caregivers Make: National Alliance for Caregiving

First-of-its-Kind Study Looks at the Impact of Rare Disease on Family Caregivers Caregivers and Families Face Life-Altering Challenges: Support Services Rarely Used (Washington, D.C. Feb. 28) Findings from a first-of-its-kind national snapshot of caregivers of individuals with a rare disease or condition paint a picture of friends and families facing emotional, financial, physical, and social strain with little support from outside resources. The National Alliance for Caregiving, in partnership with Global Genes, released findings of an online study […]

Calling All Innovators For The “CAREGIVERS SHARK TANK”

The National Caregivers Conference is inviting innovators, inventors, researchers and thought leaders to share their new ideas, products, technology’s, or therapeutic concepts that aim to transform the health and role of family caregivers. The National Caregivers Conference is returning to New Jersey since Superstorm Sandy forced its cancellation in October 2012. This annual conference is renowned for its National level speakers, workshops and exhibitors who address both individual and national issues facing the caregiver community. […]

A Parent’s Perspective: What To Do If Your Child Is Diagnosed With A Rare Disorder

BY LAUREN AGORATUS, M.A. It’s hard enough on family caregivers when their child receives a new diagnosis. The challenge is made even more difficult when the condition is rare. “Rare disorders” are conditions that are rare or unusual, affecting small numbers of children. This could make it even more challenging to find information from good sources. Genetic resources may also be helpful in gathering information on rare diseases, particularly to help determine whether there is […]

ULTRAGENYX Announces FDA Approval Of MEPSEVII™

Mepsevii (Vestronidase Alfa) is the First Therapy for Progressive and Debilitating Rare Genetic Disease Mucopolysaccharidosis Vii Ultragenyx Pharmaceutical Inc., a biopharmaceutical company focused on the development of novel products for rare and ultra-rare diseases, recently announced that the U.S. Food and Drug Administration (FDA) has approved MEPSEVII™ (vestronidase alfa), the first medicine approved for the treatment of children and adults with Mucopolysaccharidosis VII (MPS VII, Sly syndrome). MEPSEVII is an enzyme replacement therapy designed to […]

Training First Responders To Respond Bettter

“The SNAP Program makes a vital contribution to the armamentarium of best practices addressing the unique needs of special populations and their ability to thrive and participate in the community. It will become a time-honored component in the first responders’ toolkit.” – Rick Rader, MD, Medical Liaison, SNAP Program BY BRUCE GARNER Even under the best of circumstances, it is challenging to be a good parent, but when your child has special needs, it gets […]

Rare Disease Caregiving Study

To study the impact of rare disease on unpaid friends and family members who provide care (known as “family caregivers”), the National Alliance for Caregiving and Global Genes, are launching a “first-of-its-kind” national snapshot of rare disease caregivers. This fall, the two groups plan to release a national survey aimed at collecting feedback from over 1,000 family caregivers of children and adults with rare diseases. The survey will be open from Wednesday, September 13 through […]