rare disease day

And the combination of these mutations makes Esmé truly one of a kind. These blurs are the contrails of her stereotypies
Give yourself a break. Don't feel guilty. Don't blame yourself and don't blame your husband. Don't blame the move to London or that you sometimes drank unfiltered tap water -- or a glass of wine. Don't blame the cups of coffee. Don't blame EU emissions standards. Do not blame Tony Blair.
Just a few weeks ago the drug received breakthrough status from the FDA, which means that the FDA will provide senior administrative
My family did not have other families to talk with, or survivors to hear from. I couldn't explain the pains I was feeling to anyone who understood what I was talking about. At the time, there was only one doctor we found to consult with, and he had very limited knowledge on the subject.
A rare disease is defined by the National Institute of Health (NIH) as any disease that affects less than 200,000 people at a given time.
I couldn't read, "I love you, right up to the moon and back," without thinking that the moon would always be there, but my child would not.
Every year Rare Disease Day takes place across the world and brings together anyone affected by a rare disease, patients, their families and caregivers. It also serves to raise awareness of rare diseases among policy makers, industry, researchers and health professionals.
Feb. 29 is a rare day, dedicated to an important cause called Rare Disease Day. It's okay if you haven't heard of it -- today is dedicated to some of the world's least known diseases, after all.
Over time, I have learned that it is okay to be different and rare. Abby is a happy child, is well adjusted and does not even realize she is different. We are all different and we are all rare in our own way.
And how do I know that? My 26-year-old fraternal twin daughters were diagnosed with Late Onset Tay-Sachs this past November.
The nonprofit Double Hit Lymphoma Foundation was born, and Jill and Dr. Petrich established their mission: Increase awareness of double hit lymphoma; provide information, tools and connections that make a cancer journey more manageable, with fewer surprises and unknowns; and raise funds for double hit lymphoma research.
Today, February 28, is Rare Disease Day, an annual international event that aims to raise awareness about the thousands of under-the-radar diseases that significantly impact people's lives. My daughter is one of those people.
We never planned to have more kids, but we were so happy as a family, we never really planned not to.
Richardson, whose father passed away from a rare brain disorder called progressive supranuclear palsy (PSP) nearly a decade
Demoralized and despondent, I was back in my doctor's office for the umpteenth time in three years. Dr. Schorling walked in looking unsuitably chipper holding a scrap of paper torn from a note pad. So far all diagnostic roads led nowhere.
February marks progress in overturning terrible odds. The landscape has changed. Drug companies more and more recognize that rare diseases have provided some of the most important medical breakthroughs on record. The therapies they're funding are finding new and more applications.
In terms of the science, it seems that "rare diseases" are more likely to be neglected than so-called "neglected tropical diseases." Perhaps in terms of NTDs, it's not the diseases but the people who have been neglected?
This February will be the second Annual Rare Disease Day. The concept was launched in Europe last year by the European Rare