My disability
My diagnosis
My scoliosis
Using a wheelchair
The other stuff
As FA progresses

Ataxia UK Coventry and Warwickshire Support Group

Independent Living
Getting the care I need
Using a hoist

My powerchair

Using public transport

The Open University
Online courses

Working life

My travelsTravels in the UK
Walt Disney World

Things that help
Foot surgeryUsing a catheter
My exercise bike
Taking CoQ10 and vitamin ESwimmingMassageBotox

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Last updated: July 2016

Friedreich's ataxia and I

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My name is Katie, I'm 31 and I'm from Coventry in the UK.

I was diagnosed with Friedreich’s ataxia (FA) when I was 8. On this website you'll find information on FA and how it affects me.

I've had a website for over 16 years; some of the stuff on here has been there for years - its just been changed and updated many times. It's a great outlet for me and I love hearing from people who read it. My hope is that people who have just been diagnosed with ataxia read my website and see how I've had it for 23 years and lead a very fulfilled life which I'm very happy with. Subsequently I hope they come away thinking I CAN live with this!

What is FA?

In order to make the rest of your body move, your brain sends messages to it via nerve cells. Basically a message leaves the brain and then it is passed from one nerve cell to the next and so on until it reaches wherever it needs to go to.

But in my body the nerve cells that carry these messages progressively become damaged. I move in a very awkward and uncoordinated way because the messages become mixed-up. It's like your brain and the rest of your body being on two ends of a telephone conversation. Both parties are talking and listening as they should be, with the brain telling the body what to do and the body telling the brain that it has done it. But the telephone wire (which acts like the nerve cells carrying the messages) has become nicked and knotted and the conversation becomes jumbled up.

Why does this happen? Well FA is recessively inherited. You have two copies of every gene in your body: one from your mum and one from your dad. With something that's recessive, be it FA or red hair, you need both copies of the gene to carry it. If only one copy carries it but the other doesn't, then the copy that doesn't carry it will dominate. In my body both copies of the gene carry FA - there is no 'good' copy to override the bad FA one.

The bad copy has a mistake in its DNA and my body is instructed to make too little of a protein called Frataxin. Frataxin regulates the amount of iron in cells, and not having enough of it means that iron builds up in the cell. The build up of iron causes damage to the cells. The cells mostly affected are nerve cells, but cells in the pancreas and heart can be affected too, causing Diabetes and Cardiomyopathy, and also cells within bone tissue which causes Scoliosis (curvature of the spine) and feet deformities.

FA is pretty rare - 1 in 40,000 in the UK (that means there are about 1,500 people who have FA in this country). I don't really like having something that nobody knows about, hence this website and if you happen to meet me in person then please know that I'm more than happy to talk about it - in fact I appreciate it when people take an interest and it makes me feel that I'm raising awareness in a small way.

This website has been around sinse 1998, and although it's changed a lot over the years it's always been about me and my disability. Over the years I have used many different hosts and website design packages. For the past ten years or so I have used 1&1 as my host and I have always been very happy with it. I have always wanted to learn how to build a website from scratch using Adobe Dreamweaver, so about three years ago I got in touch with Polar Solutions and arranged for a trainer to come out to my home to teach me at my own pace. So I now design this website using Adobe Dreamweaver and the skills I learned on that course.