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.
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.
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Small Epiphanies From a Life in Progress 