Hi
Moving on from Adventure's of Pom
Dear Reader,
Sometimes it is good to change. Having a severe disability kind of prevents spontaneity however, personal growth should always be encouraged and that is what I hope to achieve here in some manner. If I can help someone or be a positive source along the way, then good.
If you are reading this introduction then you probably know me anyway. Hopefully if you keep reading my letters you will learn something or perhaps find out something interesting that you did not know. I hope so…oh and if you feel like it, please subscribe…
My name is Emma, I am in my 40s and I live with a disability called Friedreich’s Ataxia (FA).
Friedreich’s ataxia is a recessive genetic disorder characterised by the progressive degeneration of the spino-cerebellar system due to an abnormality of a gene on chromosome 9.
I was diagnosed with FA when I was seven, although mum says that she noticed symptoms as far back as two years old. When I was diagnosed there were no genetic tests for FA, so a very clever Prof called Anita Harding (1952-1995),who is still being recognised as a pioneer in the field of neurology to this day, diagnosed me purely on my symptoms. When I was about 25 I asked them to do the confirmation tests regarding the genetics of my FA. It turns out that Professor Harding was a very intelligent woman because she was right! I have two expansions on my genes in chromosome 9 which basically means that my genetic coding is too long and this causes FA.
To find out more please go to the Ataxia UK organisation website.
What my disability doesn’t say about me - I love to read, am a bit of a tv and film geek, and I have eclectic music tastes. I have a degree in Health Sciences and many other miscellaneous academic qualifications. I published my friend Tuppy’s (1944-2025) autobiography in 2024 and I volunteer to do the things that I love with the people I love.
So how does my disability affect me? The list of things I can’t do is long and at times, soul destroying! I prefer to concentrate on the things I can do. However for the sake of the background detail here are a few important facts:
FA does not affect the mental functioning of the brain – meaning as my physical body degenerates my mental capacity does not.
I am a wheelchair user; I use a powered wheelchair for most of the day as I no longer have the strength to push myself around in a manual wheelchair all day (which is what I did from the age of 12 to about 28).
I can no longer transfer myself from bed to chair or from chair to chair and so I use hoists, my hoists are ceiling track hoists.
I have carers on a daily basis to help me dress and transfer and my mum helps me with all the stuff in between.
I have very little in the way of coordination and physical strength.
I deal with a few other issues that come along with my FA, such as insulin controlled diabetes type 1 (and a plethora of problems that comes along with that), heart failure (DCM), dysphagia, hypothyroidism, dysarthria, spoken expressive dysphasia, I have a suprapubic catheter and wear hearing aids for tinnitus and sensorineural deafness, just in case you thought that the wheelchair was not enough!!
While all of the above sounds depressing, I have learned to live with it. It is not always easy but nothing ever is whether you are able-bodied or not, we are each dealing with our own issues. I wish I had something groundbreaking to say to make a difference to all the disabled people out there. However all I really have to say is, life is tough, learn to deal with it.
I started blogging using another platform with the name ‘Adventures of Pom’, the blog is linked here so you can still read it but this is the blog that I will carry on as this platform suits me better, I hope! I do Intend to reuse some of the better parts that I have written, but I also intend to blog once a week, so we will see how long that lasts!!
I began writing like this with the idea that it will be used for disability information sharing, knowledge gathering and general blogging. I think now that it has become more of a general blog for me and perhaps the disability info sharing is just a welcome side effect that might occur...cheaper than therapy anyway!
Most entries are partially written using dictation software, so please excuse any mistakes I have not yet corrected.
Regards
Em