Category: Disability

Rare Disease Day

Wednesday 28th February was Rare Disease Day. Unfortunately I’m struggling with fatigue so haven’t been able to write about it until now.

Rare Disease Day is such an important day for those of us with rare conditions. It’s aim is to raise awareness among decision makers and the general public about rare diseases and their impact on patients lives.

Building awareness of rare diseases is so important because 1 in 20 people will live with a rare disease at some point in their life.

A disease or disorder is defined as rare in Europe when it affects fewer than 1 in 2000

One rare disease may affect only a handful of patients in the EU (European Union), and another may touch as many as 245,000. In the EU, as many as 30 million people may be affected by one of over 6000 existing rare diseases.

  • 80% of rare diseases have identified genetic origins.

Mine are both caused by genetic mutations that are not inherited from my parents so are “de novo”.

The lack of scientific knowledge and quality information on the disease often results in a delay in diagnosis. Also the need for appropriate quality health care engenders inequalities and difficulties in access to treatment and care. This often results in heavy social and financial burdens on patients.

My parents were constantly fobbed off by our GP when I was born with them saying I was fine and there was nothing wrong with me with Social Services even being called as the doctors thought mum and dad were abusing me. Luckily in comparison with other rare patients my diagnosis was made fairly quickly and because of my incredible consultants we soon knew about my ataxia when it developed and I received the help I needed to make like easier as I slowly lose balance and coordination.

Although rare disease patients and their families face many challenges, enormous progress is being made every day.

The ongoing implementation of a better comprehensive approach to rare diseases has led to the development of appropriate public health policies. Important gains continue to be made with the increase of international cooperation in the field of clinical and scientific research as well as the sharing of scientific knowledge about all rare diseases, not only the most “recurrent” ones. Both of these advances have led to the development of new diagnostic and therapeutic procedures.

The UK recently launched it’s “Strategy for Rare Diseases” something that is welcomed by us rare patients and something I will write about another day.

I think the most important thing is that rare diseases affect more people than you think. Individually a condition may be rare but collectively there are more of us than you realise but we will never stop raising awareness.

 

 

 

Visible versus Invisble

I lived most of my live with invisible disability but with the appearance of arthritis and ataxia I now live with visible disability. So which is better?

The issue with invisible disability is exactly as the name suggests: you can’t see it. Many people then don’t accept that you have anything wrong with you because they can’t see it. I always looked young and pale but you couldn’t ever see the immense fatigue I felt day to day, the lack of strength that made standing for any period of time so difficult and that pushing myself would not only tire me out that day but also wipe me out for several days after it.

I would regularly get dirty looks from other people when I took seats on buses and trains and then someone would get on with a visible disability and I wouldn’t leap to my feet to give up my seat.

I once got on the train at Clapham Junction for the short journey to London Victoria and asked for a gentleman to step aside to let me sit down in one of the empty seats in the carriage (there was about 8 of them, an entire section). He let out a massive sigh and eventually stood to one side making a massive deal of it and let me sit down. He then proceeded to ask another girl who was standing if she would also like to sit down in the (near empty carriage). Her response was “no it’s not far”.They then proceeded to talk loudly about lazy people who wanted to sit down for short journeys and how they should just stand. Luckily as my arthritis was flaring up I had a foldup walking stick in my bag so got it out and as the train pulled in to our stop I made a massive effort of standing up with difficulty and started moving forward. The man and the woman did at least have the decency to look sheepish when they saw me walking with a stick, but the question is should I have had to get it out?

I get it, it’s difficult to know if someone has mobility issues due to an illness or disability of whether they are just lazy. The same as whether you don’t know if someone is overweight due to a medical problem or just because they eat far too much and don’t exercise enough. In the UK it’s estimated that 1 in 4 adults are affected by obesity and 1 in 5 children aged 10 to 11. For me obesity with no reason fits in with the topic of smoking which is a post for another day.

So I spent 24/25 years of my live with invisible disability and then the arthritis started leading me to carry a fold up walking stick in my bag for bad moments (although I still had some ‘interesting’ encounters which are again stories for another day).

Nowadays due to the Ataxia I cannot leave the house without a walking stick for short journeys and a scooter or wheelchair for longer journeys and I can definitely conclude this:

YOU ARE TREATED BETTER IF OTHERS CAN SEE YOUR DISABILITY

If you are in a wheelchair or use a stick everyone is generally a lot more understanding as they can see that you have problems with mobility and are also more open to the possibility that your disability affects more than just your legs not working properly.

I’ve only lived with ataxia for a few years so I guess time will tell but the truth is visibility is easier to live with as other people can see when you’re really struggling. The more tired I get, the worse my balance and coordination is making it even more visible than before to other people and day to day life is just easier. People will get out of your way and try to help if they can.