Uniting around #rarediseaseday

Today is #Rarediseaseday.   This is a day when patients, their carers, HCPs, governments, NGOs and industry unite in raising awareness around rare diseases.  I am presuming that people reading this post know what a rare disease is but if not Eurodis provides information around this.

#Rarediseaseday is in my opinion a very important day.  It is a day that not only unites all the various parties involved in healthcare but also raises awareness around rare diseases and the plight of patients and their carers.  Rare diseases are often devastating and can be all consuming not only for the patient but their friends and families.  Many rare disease patients are children and many rare diseases have no cure or treatment.

The very nature of rare diseases is that they are extremely uncommon and subsequently often very hard to diagnose.  The old adage “When you hear hoofbeats, think of horses not zebras!” means that first diagnosis will generally be for more common diseases and it is only as these start getting ruled out that diagnosis starts moving towards the rare disease spectrum.  When my mother became ill with an autoimmune disease called Churg Strauss syndrome she went through months of ill health and pain, and multiple false diagnosis, before ending up in an ambulance and hospital where it then took 8 consultants to make the diagnosis.  Looking back she had all the text book symptoms but none of her doctors managed to connect the dots and consider it may have been an autoimmune or rare disease.

Shire put together a couple of great infographics around diagnosis issues as part of their rare disease impact report The infographics interestingly show quite a disparity between the UK and the US in terms of diagnosis time but also show commonalities in the emotions that patients and carers go through regardless of location.

Looking into patient and carer blogs around rare diseases there is often this common theme around time to diagnosis and all the problems associated to this, including things like being dismissed by HCPs for being a hypocondriac or their opinions and input not being taken seriously.  It can be extremely distressing for a patient when a doctor dismisses them and their input, as I personally found out in my journey to my Hashimoto’s diagnosis.  It can also potentially have negative physical results as written about by Michael Weiss, aka @hospitalpatient, in his story around his battle with Chron’s Disease where doctors at the Mayo Clinic refused to listen to his input around his own body.

In both my and Michael’s cases we refused to accept the doctor’s verdict.  We are both empowered and educated patients and we pro-actively sought answers that fitted with our experiences.  At the end of the day no one knows a patients’ body and illness like that patient.  Traditionally the patriarchal nature of medicine meant that patients had very little say in their own healthcare but this has changed today.  Today, in large part thanks to the internet and social media, patients are more empowered than ever to stand up and take control of their own health, and if they are not satisfied with the answers they get to continue looking.  In the case of rare disease patients this can really make the difference between life and death and have a huge impact on quality of life.

What we see today thanks to technology is patients coming together around common health issues, finding a voice where they previously had none, finding power and strength in numbers where previously they stood alone and finding hope where previously none existed.

#Rarediseaseday is part of that movement and helps amplify their voice and raise awareness around their issues.  It is also a testament to their strength and tenacity in not giving up in the face of apparently insurmountable odds. Through #Rarediseaseday we celebrate the incredible courage of patients and their carers, and each and every patient and carer in the world can take inspiration from this amazing group and empower themselves to take control of their own health.