“It’s a miracle you’re still alive.”
April 20, 2017
High school student and common variable immune deficiency (CVID) patient, Baylee Gregory, is an avid golfer and soccer player who hopes to one day play those sports in college. That didn’t seem possible years ago when a doctor commented, “It’s a miracle you’re still alive.”
Now that she’s been diagnosed and is treating her primary immunodeficiency, her mom, Annette, says, “She’s going to live a life that she wants to live and not let things stand in her way.” Baylee and her mom shared their story with BioBlog at the start of World PI Week 2017.
BAYLEE: I always had sinus infections. I always had ear problems, stomach issues. Family trips I would always be the one sick. I’d go to the doctor and they would just tell me that it was allergies or take an antibiotic, it’s another sinus infection, it’ll go away.
The answer is ‘yes,’ which is why World Hemophilia Day 2017 is raising awareness of the many women with bleeding disorders who often go overlooked and undiagnosed.
By Jerry Powell, MD
April 13, 2017
No other genetic disease has made as much progress as hemophilia over the past half century. The typical life expectancy for boys born with severe hemophilia has increased from approximately 20 years to near normal life expectancy. One reason for this tremendous progress has been the involvement of patients and their families in supporting research and development (R&D) and participation in clinical trials, which has brought new innovative treatments to market.
CSL Behring’s Bob Repella joined NORD’s Pam Gavin for a wide-ranging discussion about rare diseases at the 2016 BIO International Convention. The following is excerpted from his remarks.
By Bob Repella
Rare diseases are serious and often debilitating conditions that have a tremendous impact on 350 million patients worldwide, about half of whom are children, and their families. Today we are on the brink of significantly improving their lives through rare disease awareness, early diagnosis and innovative treatments.
More therapies are available today for previously unmet needs, and there are greater choices for patients than ever before. But even with this progress, a great deal of work remains to be done. Over 90% of the approximately 7,000 rare diseases have no treatment available, and there are still challenges to accessing existing therapies. Nevertheless, the trends overall are positive.
April 25, 2016
By Paul Perreault
Today we proudly mark CSL’s 100th anniversary, a milestone that is a testament to our values, science, people, and the patients we serve. For the past 100 years our vision, focus and agility have remained steadfast, enabling us to accomplish this feat. We have a rich heritage with an even brighter future. In many ways, we’re just getting started.
As a tangible expression of our values in action, and as a way of celebrating the CSL Centenary, we are establishing a $25 million R&D Fellowship program for early stage and translational research. The R&D Fellowship reflects the promise we made a century ago to save lives and protect people’s health.
Rare diseases are an important public health issue.
February 12, 2015
By Peter L. Saltonstall
Each year since 2009, the National Organization for Rare Disorders (NORD) has been the official U.S. sponsor of Rare Disease Day®1. This is a day celebrated around the world that is dedicated to elevating public understanding of rare diseases and to calling attention to the special challenges faced by the rare disease community.