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 […]


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 […]

My Name Is Jackson Fukuda And I Have Arginase Deficiency

I AM A 26-YEAR-OLD GRAPHIC DESIGNER… BY JACKSON FUKUDA This is my story with arginase deficiency. A decent amount of information was told to me by my parents. I felt that they would be the best ones to tell my story when I was diagnosed and how life was for me at a very young age. At a young age they started to notice a big difference between other children my age and myself. I […]

Youth Participation In Transition Planning

BY VALERIE LEITER In 2004, Congress added new transition requirements to the Individuals with Disabilities Education Act (IDEA), striving to improve youth outcomes after high school. These new requirements say that the Individual Education Program (IEP) must include “appropriate measurable postsecondary goals” and the “transition services… needed to assist the child in reaching those goals.” They also give students the right to participate in planning once their IEP meetings focus on transition from school. It […]