Friedreich's Ataxia and Me

My name is Emma, I am aged 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 are no genetic tests for FA, so a very clever Prof called Anita Harding (AH link) 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 organisation website: Ataxia UK

 What my disability doesn't say about me - I love to do cross stitch, read, hang out with friends, go to the cinema, spend time with my family and am a bit of a tv geek. I have a degree in Health Sciences and several other miscellaneous academic qualifications.

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 (Freeway 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.  (My mum is the best mum ever!).

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 (and a plethora of problems that comes along with that), heart failure, dysphagia and an indwelling suprapubic catheter, just in case you thought that being severely disabled 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.

One of the first things to do when I decided to write this blog was to come up with a name.  After watching the candidates name their various projects on BBC’s ‘Apprentice’ I thought that this would be the easiest thing to do.  I was so wrong.   Oh the hours I spent brainstorming only to make a decision, enter the name on Blogspot and find out it was already taken!!

So...my genius sister came up with the idea 'Cripp Advisor'!!  However after creating and publishing my blog under this name for two years I have decided to change it to Adventures of Pom.  Partly because this blog has evolved to be more personal to me.  Pom is the name that my sister has called me for as long as I remember...I don't know why!!

I started this website 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!

Some entries are written using Dragon NaturallySpeaking dictation software, so please excuse any mistakes I have not yet corrected.

I finished my paid employment some years ago due to my disability and can no longer work/find a job suitable to work around my disability.  I had to figure out how to navigate the benefit system and found it quite difficult to do.  I began to realise that I couldn’t get all my disability information in one place and that’s when I came up with the idea for this website.  If any of my experiences, good or bad, can help someone else in anyway then they were worthwhile!

Please take some time to navigate the website, read its humble offerings and let me know what you think.