Rare Disease Day 2021 Today I’m joining with millions of people around the world in raising awareness for Rare Disease Day and #showyourrare. Last year I was diagnosed with Hypermobile Ehlers Danlos Syndrome also known as HEDS, a genetic, lifelong degenerative illness. That affects the collagen all throughout my body, causing issues with every system. I am just one of the millions of kids, teens and adults around the world living with a rare disease.
A few facts for you:
Why is Rare Disease Day so important?
Rare Disease day brings awareness to those living with rare diseases, as well as their families and/or caregivers. Bringing light to their daily, lifelong battle to access basic human rights.
“The long-term cause of the Rare Disease Day campaign is to achieve equitable access to diagnosis, treatment, health and social care and social opportunity for people affected by a rare disease” – raredisease.org.
There is no cure for my illness and no treatment either. I like everyone else living with a rare disease, do everything I can to manage the symptoms and look after my body but that does not stop my illness progressing. The scariest part is not being able to ask a doctor/specialist about your illness, why it causes certain things, what could be happening or what you can do to help manage it. You have no idea what to expect for the future, what your quality of life will be like, if you even will get to live your life.
I like so many others have been denied medical care as I’m “too complex”. My illness progression is blamed on me or accused of being mental illness. My diagnosis is dismissed by specialists that openly don’t even understand the condition. My mother is accused of Munchausen Syndrome by proxy and I of faking it for attention. Even being denied access to therapies, tools and funding to access better medical care as there isn’t enough “proof” of its severity or being incurable.
One of the constant challenges with rare diseases is that a lot of the basic symptoms are common to most chronic illness, such as chronic pain, fatigue etc. It’s the symptoms that don’t connect that shine a light on the rare disease but are constantly dismissed as they don’t match the other symptoms. Due to their being little to no education in the medical field on the conditions, it leads to misdiagnosis. It took me 9 years of misdiagnosis to finally get answers. I’m one of the lucky ones. I know others that have had to wait 50-60 years to be diagnosed and others still fighting to get answers. Rare diseases are life limiting, overwhelming and heart breaking to live with or watch someone you love contend with. The financial burden is incomprehensible and never ending. There is no proper support for those living with the diseases and the families/carers supporting them.
So, what can we do to change it?
We need more research done towards rare diseases. We need more doctors open to educate themselves and see patients with complex conditions. Awareness is key for this to happen, taking part in Rare Disease Day walks, start the conversation about rare diseases with anyone you know in the medical field such as nurses, paramedics, doctors and other therapists such as physios. As well as sharing posts on social media, every little bit helps. If you know anyone in your life or local community living with or caring for someone with a rare disease, please show them love, take the time to listen, you don’t have to try to fix it or find a positive in their situation. Being heard and shown kindness is the biggest support you could ask for.