Yesli’s Story: Income Inequality, Mountainous Terrain and a Shortage of Specialists Hamper Diagnosis and Treatment of Rare Diseases in Chile

By Juan Ambar

June 20, 2017

Yesli Jordán Paillacán overcame a childhood
made difficult by an undiagnosed
primary immunodeficiency.

When we first met Yesli Jordán Paillacán, she was a shy young girl living in Araucanía, Chile’s poorest region in terms of gross domestic product per capita where 80 percent of the population depends on the public health system. Yesli’s life had been continually disrupted by frequent hospitalizations that typically lasted from five to 10 days, and by other health complications that dramatically affected her quality of life.

Access to care in rural areas
She could not attend school regularly, particularly in the winter, when weather conditions exacerbated her condition. Access to care for patients like Yesli in rural areas of Chile is complicated by the distances that often separate them from hospitals and health care centers. In rural areas patients must often travel over rugged mountainous terrain to receive medical treatment.

Continue reading

Baylee’s Story

“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.
Continue reading

Women with Bleeding Disorders – Are they Often Overlooked?

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.

Continue reading

Bright Future for Rare Disease Patients Driven by Innovations Including Genomics and Personalized Medicine, But Some Challenges Remain

International Bio Convention

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.

Continue reading

100 Years Old and Just Getting Started!

Centenary Logo

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.
Continue reading

Posts represent the opinion of the author and do not necessarily reflect the views of CSL Behring.
This site is not intended as a forum for discussing CSL Behring or other companies' products.
Comments on this blog may be reviewed by CSL Behring and may be subject to removal if they are deemed to have inappropriate content.