Surveys of patients and caregivers with rare disease report that, to get a proper diagnosis, a patient typically visits up to 8 physicians and receives 2-3 misdiagnoses. This can take an average of 7 years! i
Even armed with the right diagnosis, the road ahead for a patient with a rare disease is still a challenge. The rarity of the condition can make it difficult for patients to find the support they need, often generating anxiety, depression and feelings of isolation. ii Moreover, while there are over 7,000 identified rare diseases and disorders, only about 5% of them have approved therapies. iii
While there are over 7,000 identified rare diseases and disorders, only 5% have approved therapies.
Yet, we are making progress. The internet and social media make it easier for patients and caregivers of those with rare diseases to connect with others with the same condition. And in 2017, FDA granted 77 orphan drug approvals, and 476 orphan drug designation requests. iv
2017, FDA granted 77 orphan drug approvals & 476 orphan drug designation requests.
We focus our work on patients with rare diseases and conditions because their burden is too often carried alone, because the road to diagnosis is unlike any other, and because the decision to start therapy can be emotionally fraught after living years without a treatment option.
What do our clients say about our understanding of these patients?
i Shire, Rare Disease Impact Report: Insights from patients and the medical community (2013), https://globalgenes.org/wp-content/uploads/2013/04/ShireReport-1.pdf, Accessed July 20, 2018.
ii Bogart and Irvin. Health Related Quality of Life Among Adults with Diverse Rare Disorders, Orphanet Journal of Rare Diseases (2017) 12:177.
iii Global Genes, RARE Diseases: Facts and Statistics, https://globalgenes.org/rare-diseases-facts-statistics/ Accessed July 20, 2018.
iv Karst K, Going Strong! Orphan Drug Approvals and Designations Skyrocketed in 2017, While Orphan Drug Designation Requests Dipped Slightly (2018), http://www.fdalawblog.net/2018/02/going-strong-orphan-drug-approvals-and-designations-skyrocketed-in-2017-while-orphan-drug-designation-requests-dipped-slightly/, Accessed July 20, 2018