TRAPPED - an insight into two sisters’ struggle to access treatment for a rare genetic disease

Mariam Al-AttarEmail author View ORCID ID profile

Orphanet Journal of Rare Diseases201813:37

https://doi.org/10.1186/s13023-018-0774-x

Received: 6 February 2018

Accepted: 6 February 2018

Published: 27 February 2018

Abstract

Medical student training is largely focused on acquiring knowledge of diseases and their management, which may leave one with a naïve perception of what is achievable in practice, particularly in the field of rare diseases. Tumour Necrosis Factor Receptor Associated Periodic Syndrome (TRAPS) is a rare autoinflammatory disorder with a prevalence of one in a million. Its features include recurrent disabling episodes of high-grade fever associated with rash and arthralgia. Its rarity, combined with its somewhat vague and heterogenous clinical presentation, means that patients often suffer with TRAPS for years before they are diagnosed. Although it has a licensed treatment, Interleukin-1 blocker Anakinra, this is not currently funded by the NHS. This report provides an insight into the experiences of two sisters recently diagnosed with TRAPS, and the barriers they face preventing them from accessing the treatment they need, without which they are likely to suffer life-threatening organ failure. I have argued that the commissioning policy model for rare diseases needs reconsideration to improve access to Anakinra on a national level, and have highlighted the significant impact that clinicians can have on an individual level by being advocates for their patients.