The Blessing and The Burden

by Barbara Swoyer Several months ago, my son turned 22.  I felt grateful, lucky and blessed.  I also felt apprehensive and overwhelmed.  Like many other parents of children with special needs, it was a day that I dreaded, the day when my child would lose the entitlement of school and related services. Reaching this milestone meant that he was continuing to beat the odds against a progressive disease and the prognosis of a limited life […]

New Report Shows States Fall Short on Policies to Help Reduce Burden of Rare Diseases Affecting 1 in 10 Americans

A majority of states are not measuring up on legislative solutions that reduce the burden of rare diseases affecting 30 million Americans, according to a new report released today by the National Organization for Rare Disorders Rare Action Network™ (NORD RAN). The 2018 “State Report Card” indicates that progress in several areas of health policy is slow. “The numbers are astonishing,” said Peter L. Saltonstall, president and CEO of NORD. “The latest State Report Card […]

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 […]

Meet Rachael Wrobel

by Colleen Berlingieri I first met Rachael at a bowling alley.  She is a support worker for people with disabilities and she was there with a client. At the time, I was looking for someone to work with my son and Rachael was highly recommended. Acquaintances told me that she was a safe driver, filled out paperwork on time and was very engaged with her clients. She sounded perfect, so I walked over to meet her. I waited […]

Rare Disease 101 from NORD in honor of Rare Disease Day 2018

  Rare Disease 101 Rare Disease Day is an international awareness campaign that takes place on the last day of February each year. It is the one day the world comes together to recognize people with rare diseases with the goal of raising awareness among the general public and decision-makers about rare diseases. The global theme for Rare Disease Day 2018 is patients and research. For patients, their families and caregivers, getting up to speed on […]

POSSIBILITIES

By Ann Allen  “Find a group of people who challenge and inspire you, spend a lot of time with them, and it will change your life.” ~Amy Poehler  Ah, you made it through the holidays. Now what? Did you make a New Year’s resolution? Did it sound something like mine and contain words like healthy eating, exercise, less stress? I know. We try. We’re busy. Our people come first. I am not a personal trainer, motivational […]

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 […]

Boston Inspired

by Ann Allen  ~The everyday kindness of the back roads, more than makes up for the agony of the headlines By Charles Kuralt Life is beautiful. Ah, such a cliché, but sometimes it feels like that when people are put in your life at the right time, in the right place, and wearing running shoes. This is the story of how my family joined the running community. On Sunday, April 14, 2013, a woman approached […]

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 […]

Jaxen, Tieler, and Boston-Undiagnosed

Jaxen age 9 Jaxen is nine years old. Jaxen is so affectionate. He is always hugging me, which I am so grateful for, he makes me feel so loved and appreciated. He has a giant heart and is very empathetic. He is so helpful in caring for his little brother and sister. He is protective and kind. He is funny, smart and very matter of fact. He is fun and has a contagious laugh! He loves fishing, […]