Today is rare disease day so I thought I would share my personal experience. One of the reasons I am so passionate about working in rare disease is because of the experience I and my family have gone through.
Churg Strauss Syndrome
Years ago my mother got ill and got progressively sicker. One organ after the other was hit. First she had respiratory issues and was put on an inhaler for asthma. She then got skin issues, nerve issues, gastrointestinal etc. Still there was no firm diagnosis for her combined symptoms. She was eventually rushed into A&E in the middle of the night in severe pain. Still she did not receive a diagnosis. As a family member it was incredibly tough. Seeing someone you love so ill and in so much pain but no one able to give you answers in a terrible feeling. You feel totally helpless. We did not give up and we kept pushing for a diagnosis.
She finally ended up in a private hospital with a grand total of 9 “ologists” or specialists looking at her case. I think at this point they must have realised they were looking at a rare disease but needed to work out which one. It was actually my GP brother who was the first to diagnose her (over the phone). He suggested it might be a rare autoimmune disease called Churg Strauss syndrome (now called Eosinophilic Granulomatosis with Polyangiitis or EGPA). Like many autoimmune diseases the issue is that it affects multiple organs – but specialists tend to be specialised in organs (e.g. dermatologist or nephrologist). Each “ologist” my mother saw was looking at their own area of specialization.
It took a GP to bring all the dots together. From that moment onwards she received treatment and got better. However it was a tough and very painful journey. It was a classic rare disease patient journey peppered with misdiagnosis and pain. Sadly as a family member in those days I received no support – these were the pre-social media days.
Whilst Hashimoto’s is not a rare disease, my patient journey was not dissimilar to that of a rare disease patient. It started with misdiagnosis and it was two years before I finally got my Hashimoto’s diagnosis. During this time I got so ill I had days I could hardly talk or get out of bed because of severe brain fog and fatigue. I felt so incredibly ill and was getting fatter and fatter. When the endocrinologists I desperately approached for help told me to “eat more salad” and that it was all in my head my world just crashed in. Thanks to social media I got the support I needed to not give up and eventually get my diagnosis and get healthy.
These days I am really well connected with other patients but ten years ago, when my journey started, I had never heard of Hashimoto’s and did not know any other patients. It is an incredibly isolating feeling. This is how many rare disease patients feel. In many cases they will never physically meet another patient with their condition. In ultra-rare disease they may be the only patient in their country with the disease. Thanks to social media patients can now connect globally with others going through the same experience. They are no longer alone.
Patient advocacy and support
This feeling of not being alone is huge. If you have never gone through this as patient it is hard to understand just how powerful this feeling is. The strength and support we get from others can mean the world. In our battle to get answers and to get healthy it helps to know we are not “mad” or “making this up”. When you hear someone else confirm they know what you are going through there is a sigh of relief.
This is why I am so passionate about patient advocacy and support. The role patient support groups, like Eurordis or the Thyroid Trust, play is so important. They are there for the patients and to give them a voice.
Today I support rare disease day with all my heart. I want to shout out to all those rare disease patients out there “you are not alone”. We are in this together and together we are strong.