Today is Rare Disease Day. All over the world people with rare diseases spread awareness.
And so do I.
I have a rare disease – it is called systemic sclerosis. In daily term scleroderma.
Scleroderma is an auto-immune disease meaning that your body is attacking itself, the immune system is working against itself. In scleroderma the disease is shown as hardening of connective tissue. Connective tissue is widespread in your body and consists of many different kinds of proteins, and one of them who make the damage in scleroderma is collagen. You simply produce too much collagen, and this causes your skin to harden. In many people also round your organs because your entire body has collagen, not only skin, which IS the biggest organ with collagen. Its important to mention that not everything will be affected once you are diagnosed. It comes in many different form and this means that it is a bit different for the doctors to figure out what is going on.
Scleroderma cannot be cured, but your different symptoms are treated. So if you suffers from Raynauds, you get medication for that. If you have digestive issues, you are treated for that. If you have breathing problems, you are treated for that…. So it is a lot of medication day in and day out.
I have the limited form of systemic sclerosis – the progression is very slow and it is most likely that my organs will not be affected…much. There is something going on internal, but so far all tests says otherwise. Lucky me that I go to tests all the time! (Irony may occur).
So what about this Rare Disease Day? We also have Scleroderma Day, as you know.
There are a lot of different kinds of diseases out there, and those who are rare NO ONE knows about. Have you ever heard of scleroderma before you got your diagnosis? Me neither!
True fact: There is more than 6000 rare diseases. In Europe a rare disease is defined as rare when it affects fever than 1 out of 2000. (Source: http://www.rarediseaseday.org/article/what-is-a-rare-disease)
When you are up against a rare disease there are not that many doctors out there who knows a lot about your condiction. For scleroderma it is the same. In Denmark, my home country, you are lucky if your PG knows about the disease. Not even all reumatologists knows how complex scleroderma is.
So for me it is important to spread awareness of scleroderma – we need more awareness, we need more research. And I try to spread awareness by being active in national and international scleroderma associations.
In Autumn 2016 I worked closely together with Boehringer Ingelheim in producing this film. They are doing a research project on lungfibrosis in scleroderma, and they want to help us spread awareness of scleoderma, not only on World Scleroderma Day, but also on Rare Disease Day.
I dedicate the film to my Mum, who passed away on Jan. 31th, 2017.
Read the entire article and watch the film on Boehringer Ingelheims webpage.
Systemic sclerosis – Annelise’s story | boehringer-ingelheim.com