Rare Disease Day

Yesterday was Rare Diseases Day – unfortunately, my rare disease had made me quite ill yesterday so I didn’t get around to writing this when it was more relevant but I figured instead of letting it slip by I’d still write a blog post for it!

As you know, I have Klippel Trenaunay Syndrome and I have explained how that affects me, but what I haven’t explained is how a rare disease and particularly, ‘invisible disability’ affects people in day to day life.

Nowadays, it’s usually pretty clear that I’m ‘disabled’. Whilst I can get around my flat most of the time ‘unaided’ (meaning without a walking stick) because it’s a very small flat, specially designed for me with lots of things to grab on to, if I go out I use a walking stick at best. Sometimes I use crutches and more and more often I use a wheelchair.

However, growing up, the only sign I had that anything was wrong was a limp (which was sometimes less noticeable than other times) and my swollen birthmark leg which I usually covered up.

Having an ‘invisible’ disability is a tough thing to cope with. I almost find it easier now that I have to use a walking aid or wheelchair as I don’t get the same disapproving looks when using disabled facilities.

Parking in disabled bays and being tutted at by people who see what appears to be a healthy, young woman getting out of the car is something anyone with an invisible disability has to learn to deal with.

Similarly, using disabled toilets as a teenager with a colostomy bag was not a fun experience! People automatically assume, when a teenager walks out of the disabled toilets of a shopping mall, that they didn’t need to be in there and were skipping the longer cue for the ‘normal’ toilets. Furthermore, the sign for disabled facilities is a wheelchair user which clearly gives the impression this is for ‘wheelchair users’ rather than ‘disabled users’.

When it comes to rare diseases, we have an additional challenge! Rare diseases get less attention because they affect fewer people, less funding and therefore less research, so growing up I encountered a lot of ‘trial and error’ in my treatment programmes. Thanks to my parents fighting for a second opinion, at the age of twelve I was referred to Great Ormond Street Hospital where there was a team dedicated to vascular birthmarks and a particular interest was taken in my case.

Despite this special interest, errors were made during my treatment (due to the lack of research and knowledge of the condition) such as overlooking the need to anticoagulate me after my colostomy surgery, which resulted in my developing DVTs.

A down side to being a patient with a rare disease is that you are one of the few who can help towards research and I can remember the devastation and feelings of violation, as a self conscious teenager, when I had to take my clothes off to have photographs taken in the name of research. It was, of course, all done professionally by a medical imaging specialist but when you're fourteen years old with your underwear off, that doesn't matter!

When in hospital as an inpatient, doctors’ rounds usually consist of a doctor and a group of medical students trailing after – when in hospital as an inpatient with a rare disease, these groups of medical students tend to be a fair bit larger as those who have read about the condition have rarely ever seen it in real life so it’s a great experience for them to learn and it seems to be your responsibility, as a rare disease sufferer to give them that experience! Seriously though, I have never been pressured into allowing people in to learn and nobody should ever feel that they are obligated to.

Whilst surgery is avoided as much as possible with Klippel Trenaunay sufferers, surgeries I did have were done experimentally as my team had no idea if it would work and after having a very intense debulking surgery to reduce the swelling and bulk of an area, I was in a lot of pain and it took a long time to heal (which is common with KT) but the surgery was not successful.

On a lighter note, trips to A&E usually resulted in similar responses from the on call team: ‘you have WHAT?’ was the most common whilst I once had a consultant throw back my curtain dramatically and ask ‘you have Klippel Trenaunay Syndrome?!’ when I confirmed, his response was ‘oh cool!’ Yeah... it’s so not! These are just a few of the things rare disease sufferers and those with invisible disabilities face – try to consider this the next time you see someone using disabled facilities that you think they may not be entitled to – we never know the circumstances, we should not judge.