Gaucher Type 3 — Difficulty In Finding A Diagnosis For Rare Disease


My son, Noah, now 15 years old, first started having health problems as an infant. First, he had asthma, then chronic pneumonia, and as he got older, lots of horrible leg pain that made him writhe on the floor in tears. It was awful! There […]

Emily’s Hope Against Vascular Ehlers-Danlos Syndrome: A Lesson For Us All


The WHOLE WIDE WORLD should know there is a girl in central Florida with a beautiful smile, and an even more beautiful soul whose name is Emily and who is in very, very poor health right now.  To say she is fighting Vascular Ehlers-Danlos syndrome […]

R.A.R.E. Project's, Jonathan Jacoby to present at FDA Hearing on Rare Disease

On Tuesday, June 29, 2010, and Wednesday, June 30, 2010, FDA’s Office of Orphan Products Development will host a two-day public hearing and Webcast on the Development of Articles for Rare Diseases. This public hearing is intended to gain from health care providers, academia, industry, […]

Letting Go . . . A Little Bit


Standing shoulder to shoulder with hundreds of other parents this past Monday on what turned out to be an absolutely sticky afternoon, I waited with my son as the crowd behind us pressed in.  Sixth grade students  from all over our county had descended on […]

Make Rare Disease a Top USA Health Care Priority, Vote Today at – 25 Million+, It is time to care about rare disease.

For the millions and millions of kids and adults, brothers and sisters, moms and dads, families of every sort, friends, doctors, researchers, non-profits, foundations, research institutions, hospitals and advocacy groups, for everyone touched by rare disease, put on your blue jeans, put on your blue […]

Rare Disease Research Conference at NIH in Jan. 2010, registration is close to full, act fast.

Uniting Rare Diseases, Advancing Rare Disease Research: The Intersection of Patient Registries, Biospecimen Repositories and Clinical Data. NIH/ORDR Workshop in Bethesda, Maryland on January 11-12, 2010.  Over 200 people are registered and registration will close at 250 people. :: Catherine Calhoun

Searching for a Cure For Duchenne – Patient Perspective Podcast #1


In this first in a series of podcasts focused on rare disease patient advocates, we speak to Debra Miller, president and founder of Cure Duchenne. When Miller’s five-year-old son was diagnosed with Duchenne Muscular Dystrophy, she faced grim news. The progressive muscle loss caused by […]