Hereditary angioedema (HAE) is a rare genetic disease caused by a deficiency or dysfunction of a protein called C1 esterase inhibitor. HAE can cause swelling in certain parts of the body, such as the stomach, hands, and face, which can be painful and, in some cases, life threatening.
August 31st, 2017
Margaret Mary Conger, a member of CSL Behring’s Patient Engagement and Reimbursement team, recently sat down with Tad Rockwell, hereditary angioedema patient, clinical trial participant and passionate advocate, who spoke candidly about his long and scary road to diagnosis and treatment.
Tad Rockwell, who battled hereditary angioedema since he was a child, enjoys making breakfast for his family.
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.
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 →
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.
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