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 […]

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 […]

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 […]

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 […]

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, […]

James: Adams-Oliver Syndrome

My son James is a happy 3-year-old boy in USA. The day he was born we saw that he had a spot on the back of his head. None of the doctors in his pediatrician’s office knew what it was but when he began to lose weight and fall behind in his milestones I knew something was going on. Two years later, James’ pediatrician referred us to a dermatologist, a neurosurgeon, a plastic surgeon, a […]

Myiles- Merosin Deficient Congenital Muscular Dystrophy

Myiles is 4 year’s old, he was born on September 7th 2012; 5lbs 13ounces he was beautiful. When he was 15 months old he was diagnosed with Merosin Deficient Congenital Muscular Dystrophy est: 100 patients have been diagnosed in the U.S AND 1,000 patients have been diagnosed in the U.K. He had a rough start from birth, he had water in his lungs, he was not breathing on his own, he spent 13 day’s In […]

Remie-Undiagnosed

I held my hand against the tiny baby inside my belly while she moved and thought of the past few months. During the 20 week sonogram the technician told me it appeared that there might be a cleft lip & palate, water on the brain, clubbed feet, dilated kidneys and no stomach. The doctor said she wouldn’t live to or past her birth and referred me to another physician. The clubbed feet & water on […]

Five Ways for Exceptional Parents to Get Involved with Rare Disease Day-Tuesday, February 28, 2017

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 to raise awareness among the general public and decision-makers about rare diseases. Why do rare diseases need an awareness day? As it turns out, rare diseases are not so “rare.” There are approximately 7,000 rare diseases that combined […]