PATIENT STORIES OF HOPE AND INSPIRATION
‘MEET REMI!’ Meet Remi Savioz, a beautiful, curious, energetic 13-year-old girl with a spirit and smile that captivates everyone she encounters. When you first meet Remi, you will notice that she has speech difficulties and some physical challenges. You will also notice that she has a tremendous enthusiasm for life and making friends. What [...]
PATIENT STORIES OF HOPE AND INSPIRATION
‘MEET JOSEPH!’ It was December 28, 2008 when we saw the lump in his throat. It was small, but very obvious. Someone finally took me seriously that something was seriously wrong and he was admitted to the hospital. On New Years Eve, Joseph went in for a biopsy. A few days later on January 5, 2009, [...]
PATIENT STORIES OF HOPE AND INSPIRATION
‘MEET NATALIE!’ I am an adult in my 20′s with a rare disorder called Moebius Syndrome. I am the first in my generation to receive support from the many groups and foundations that exist today. Because of this support, I have been able to meet and share my story with others who share the same [...]
PATIENT STORIES OF HOPE AND INSPIRATION
‘MEET RUARI!’ My five year old son Ruari has Digeorge Syndrome or 22Q deletion. He was diagnosed when he was approximately 2 weeks old following emergency open heart surgery. The first year wasn’t great, but he gradually got over some of his issues and grew stronger. He is facing more open heart surgery in 2012. [...]
RARE DISEASE – The Fight to be on top
How Rare Disease Affects Me I get asked all the time why I am so passionate about RARE Disease. I get asked even more why I have volunteered for the last 8 years for rare disease, without pay. Individuals who have not encountered rare disease, or really thought about it for that matter, truly become [...]
PATIENT STORIES OF HOPE AND INSPIRATION
‘MEET TREVOR!’ Trevor Frederic Aldrian is the perfect son! Perfectly made of God’s design, he truly represents amazing grace. Trevor is living with Krabbe disease, a devastating neurological disease for which there is no cure. The disease has stripped Trevor of his ability to laugh and smile. He will never be able to sit up, walk [...]
Twitter: Coming Together for Rare Disease
As a mom with a child with rare disease, I can relate to the needs of other parents and caregivers about raising awareness for their children. Most of my blog entries are either about my son’s or other children’s rare disease, and my tweets on Twitter are typically about RARE Disease advocacy. The other day, [...]
PATIENT STORIES OF HOPE AND INSPIRATION
‘Meet Laura!’ Living Life to the Fullest with Charcot Marie Tooth (CMT) I was working in Times Square doing the whole corporate scene and was so tired all the time. I was trying to pretend like I didn’t have this disease and I could be like everyone else. Any time off I had, I needed [...]
“Tim’s Shoe” is Raising Awareness for Rare Disease
How anyone (even a shoe) can raise awareness for RARE Disease Liz Donohue at Sanford Research: Last week, I went back to high school with my friend Paola to watch her present a discussion about rare disease to the students. What I heard was a remarkable story about a shoe - Tim’s shoe, a globe-trotting Nike Sneaker [...]
Paola’s Life with Multiple System Atrophy (MSA)
A personal story by: Liz Donohue at Sanford Research Last week I went back to high school. My friend and co-worker, Paola Vermeer, a scientist studying head and neck cancer at Sanford Research, was presenting to junior high and high school students during their school assembly. This was not just any presentation. Paola, or Pay, was talking [...]