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Rare Impressions

Observations and learnings from the NORD Rare Summit.

Patrick Collins (right), Senior Director, Healthcare Policy and External Affairs, CSL Behring, moderated the panel, “Value, Pricing & the Patient Experience: How to Achieve an Effective Balance,” at the NORD Rare Summit.
Patrick Collins (right), Senior Director, Healthcare Policy and External Affairs, CSL Behring, moderated the panel, “Value, Pricing & the Patient Experience: How to Achieve an Effective Balance,” at the NORD Rare Summit.

Rare Disease Day focuses attention on the major challenges that patients with rare diseases must cope with every day. One of those challenges, access to care, was also a topic of some discussion at the NORD (National Organization for Rare Disorders) Rare Summit – “A New Era of Patient-Focused Innovation.”

Before attending the summit, I’d never heard of neurofibromatosis, even though it’s the most common genetic disorder caused by a single gene, and affects three times as many people as muscular dystrophy and cystic fibrosis combined. Nor was I familiar with multiple system atrophy (MSA), until I met Neil Versel at the summit. A journalist and volunteer with the MSA Coalition, Neil’s father had passed away from the rare neurodegenerative disorder.

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Over the course of the two-day summit, I took in many more ‘rare’ impressions that reflected the passion of the patients, caregivers and healthcare providers in attendance. The patients, some who were panelists, were awesome in the way they freely shared their powerful stories and the challenges they face. Unfortunately, many of those challenges have been subjects of discussion and debate for 20 years and more.

Patients and their families, for example, still worry about having access to the therapies they need. They described the isolation they and their families have experienced. They also conveyed the frustration and fear that is part of the diagnostic odyssey many must travel before being correctly diagnosed.

In fact, the time it takes from the onset of symptoms to an accurate diagnosis and treatment for a rare disease, about 4.8 years, is a global challenge for rare disease patients. That is, if there is even a treatment for their disorder. Currently there are treatments for only five percent of the known rare diseases.

At the summit, utilization management practices were among the barriers to access in the U.S. that were discussed, such as prior authorization and step therapy. In Europe, regulatory delays can impede patients’ access to care, and in some developing nations there is no clear-cut pathway for patients to access the medicines they need.

Value and pricing was the subject of a panel discussion at the summit in which the participants agreed that when looking at the impact of medicines and biologics, one always has to look at the value they provide to patients. This is especially pertinent in light of recent innovations, which have produced new and better medicines that are enabling people to live longer, healthier lives.

Patients and panelists also shared their perspectives on gene therapy, which holds the promise of cures as well as treatments for genetic disorders. Ashanthi De Silva, a panelist who has the distinction of being a participant in the first gene therapy clinical trial in the world, emphasized the importance for patients to educate themselves on all facets of gene therapy in order to make an informed decision.

“Gene therapy has amazing transformative potential,” De Silva said. She added that it is important to track how a gene therapy has affected and changed lives over time.

By the end of the summit, access to care and the importance of continually innovating had dominated much of the discussion. But, speaking with patients and their families gave me insight beyond the scientific, clinical and business considerations, leaving me with a final rare impression.

Behind each prescription there is a person dealing with the daily challenges of his or her rare disorder. And behind each person there is a family that is experiencing the tremendous pressure of having a loved one with a chronic condition. One can only hope that in 20 years’ time, we won’t be discussing the same barriers to care that challenge patients with rare diseases today.


Christopher Florentz is an External Communication Manager for CSL Behring