Patient Stories

Indian Family Hopes to Import Life-Saving Drug for Son with MPS VI


Hearing the news that your child has a rare disease is life changing. It takes time to absorb the words you just heard, process the information and then try to understand what life will look like going forward. For some, the road to diagnosis is […]

Parents Share Hope, Concern Over the Future for Daughter with Niemann Pick Type C


They say life can throw a curveball at you at any time. As a mother of a child with Niemann Pick Type C (NP-C) I know how that feels. Our curveball was thrown in 2007 when Hollie was diagnosed with the disease and we were […]

An Allergic Reaction Turns into a Life-Threatening Rare Disease: Stevens Johnson Syndrome


One Saturday in April 2013, I woke up on the futon in my sister’s living room and felt like I had pink eye. I was working as a CNA at the Mass Eye and Ear ER, so I immediately assumed I had caught some kind […]

Undiagnosed with Developmental Milestones, Parents of Noah, 6, Still Search for Answers


Our son, Noah, just turned six. He is a bright, happy boy who loves to swim, read books, and play on his iPad. He uses a walker, or a wheelchair, to move around – he is also a very fast crawler. Noah has an app, […]

The Life of Riley: Even with Four Heart Defects, There is Always Hope


At 16 weeks gestation we were told Riley had severe heart defects. A month later we were sent to a regional, world class medical center. After an echocardiogram with a high-risk OBGYN we were told to abort the pregnancy or he would die at birth. […]

Diagnosed with Common Variable Immune Deficiency at 62


My medical journey began in 2009, when I was 62, but I didn’t have real answers for another two years. After months of severe abdominal issues, my gastroenterologist diagnosed lymphocytic colitis, a chronic disease. After months of rest, diet change and medication, I was finally […]

Texas Family Fights to Use Experimental Drug On Their Baby Daughter


Imagine being told that your infant had a rare, life-threatening genetic disease — but being filled with hope by learning there was a clinical trial currently underway for it. Then imagine being told that your child couldn’t take part because her birthday wasn’t at the […]