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.

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The Rarity of Hereditary Angioedema Makes the Disease Especially Dangerous

That’s why awareness opportunities such as HAE Day are so important.

By Debra Bensen-Kennedy, MD

May 15, 2017

Like many physicians, I learned about hereditary angioedema (HAE) during a brief moment in my years of education and training. Had I not worked at CSL Behring, HAE would likely never cross my mind again, given its rarity.

Medical professionals juggle troves of clinical information, and on HAE Day we help keep the disease top of mind. Because HAE attacks can be life-threatening if they occur in the throat, it is extremely important for healthcare professionals to know what to do when they encounter a patient, even if their only other experience with the condition was during their medical training.

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The Challenges of Diagnosing, Treating and Finding a Cure for Primary Immunodeficiency – One Doctor’s Perspective

More patients are being properly diagnosed and treated than ever before, but obstacles remain in the pursuit of a cure.

By John Sleasman, MD

April 27, 2017

Immunologists are using innovative treatments such as cell-based therapies at Duke Children’s Hospital and Health Center (pictured above), which involves replacing missing cells or genes to correct primary immune deficiency diseases.

Photo courtesy of Duke Health

This is an exciting time in the Department of Pediatrics at Duke School of Medicine’s Division of Allergy and Immunology. Late last year we opened the Jeffrey Modell Center (JMF) for research and clinical care for children with primary immunodeficiency (PI) diseases — a group of more than 300 rare, chronic disorders in which part of the body’s immune system is missing or functions improperly.

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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.

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Is Unnecessary Paperwork and Documentation
Putting Patients at Risk?

By Dina Inverso

March 15, 2017

Managing the cost of prescription drugs is a major economic challenge. As a result, prior authorization requirements are more demanding than ever. And, for doctors and patients, navigating the maze of regulations and restrictions can be frustrating at best. At worst, patient access to lifesaving therapies sometimes hangs in the balance.

A paradigm shift is required for people with rare medical conditions who require chronic care with medicines that are life-sustaining. This is a cost for life, and payers should focus on lifetime management cost. But instead, from the reimbursement coverage perspective, the process has become more granular and we are seeing more and more hurdles being created.

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