The report summarised what sounded like a fascinating round table event that I wish has been to! Acknowledging that people with rare conditions are often "neglected and overlooked", it looked closer at the issues this particular cohort of patients face, as well as recommendations to address those issues. There is a risk that these patients will continue to "languish in the difficult-to-deal-with box", because of the complexities of these rare conditions, not to mention the additional issues caused by their low prevalence.
The key problems for people with rare conditions were identified as follows: delays in diagnosis and mis-diagnosis; lack of information; lack of co-ordinated care; and the postcode lottery. I can very easily put my hand up and say I have experienced all of the above, and the subsequent emotional impact of that on myself, my life and my family. Needless to say, they are important problems that need addressing. ASAP!
Encouragingly, the role of self-management was mentioned, in the context of information. Whilst acknowledging that the process of being an informed (expert) patient needs facilitating by a healthcare professional, self-management was recognised as a useful tool for both patients and clinicians when it comes to rare diseases - something I agree with very strongly from personal experience! Self-management has helped in the sense that there is no-one else to "manage" me (service provision is practically non-existent!), but also in the sense that I have to be informed about my conditions to tell all the doctors because they don't know - its is a important responsibility that patients with rare long-term health conditions have to meet (for their own benefit in the end!).
One of my favourite parts of the report is the section talking about integrated and holistic approaches. The very important point is made that the medical community need to consider the "wider social benefits of interventions" and give a higher priority to the valuable contribution that peels with conditions can make to society if kept well enough to be employed for example. This is something particularly close to my heart, having lost a job on health grounds, and experienced both the challenges of unemployment (on my health) and the benefits of employment and volunteering (on my health!). Despite talking about holistic care, it still seems odd that we measure the success of care in the context of the health economy and not further - it seems appropriate to have holistic measures to holistic care does it not?! And that means measuring society and employment.
Overall, a great report with clear recommendations on an important topic. It is reassuring to see rarer conditions being given time and thought in this way.
Forgotten Conditions: misdiagnosed and unsupported, how patients are being let down, September 2012 Mark Weston and Julia Manning, 2020Health