Welcome to my Ataxia page This is a link to the Ataxia Uk homepage. There are almost 2000 members to this organisation in the UK. You can also donate to this charity by following the link, all money would be gratefully recieved. When I was 14 I began to notice that I had difficulty maintaining my balance. I had to wait seven years to discover why. By this time I needed a wheelchair to get about and when my doctor diagnosed Friedreich's Ataxia (FA) from the genetic test, it was something of a relief: My condition had a name! The vast majority of people on the planet are not affected by this condition, so its characteristics are not widely known. Friedreich's Ataxia and its sister-condition Cerebellar Ataxia are both rare conditions, but no less insidious for it. As I have Friedreich's, I shall be detailing that condition on my page, although there is a lot of info specifically about Cerebellar Ataxia on other sites.

What is Friedreich's Ataxia? FA is an inherited genetic disorder characterised by loss of muscle control, balance and neurological functions. The condition was first described in the 1860's by a physician; Nicholas Friedreich, from where it gets its name. Ataxia comes from the Greek word '-taxis' meaning order, 'a-' on the front completes the meaning loss of, or without, order.

Friedreich's Ataxia and me Long before the onset of any major symptoms, before I even attended primary school, I was misdiagnosed with neuropathy. I didn't think anything more of it until I was 16 or so, and showing some serious symptoms. I fell over a lot, and my general mobility decreased gradually until I needed a wheelchair during my university studies. Other symptoms of FA that I have experienced include a partial loss of sensation in extremities, degenerating over time. I had difficulty operating the foot pedals on my car, for example, I then used hand controls for a time. For similar reasons I have had to give up the piano and I cannot touch-type. (A major complication for my typing speed when online) I have a slight slurring on my speech, although a greater barrier to communication I have is my poor hearing: I am always asking people to repeat themselves. Whether this is a symptom of FA, I'm unsure as it affects people in very different ways. Since moving to Yate I have needed carers to do the things that Ataxia prevents.

How is Friedreich's Ataxia inherited? FA is caused by a single faulty gene on Chromosome 9, located within every cell of the body. It is an autosomal recessive disease. This means the condition is not on a sex chromosome and can be overridden by a 'healthy' copy of the gene. This is significant as every human being inherits two copies of every gene; one from each parent. A person unaffected by FA would have two copies of the 'healthy' gene. Someone showing the signs and symptoms of FA would have two 'faulty' genes. However there is a third possibility; if you have one 'healthy' copy and one 'faulty' gene, you would not show any characteristics of the condition you are a carrier and could pass this condition on to your children. Click on the image (right) to see how FA can be inherited.

What does Friedreich's Ataxia actually do? The gene that is affected in FA codes for a protein called Frataxin. It has been hypothesised that it may play a role in the regulation of iron metabolism in the mitochondria of the cells. This means the body may not be able to get rid of iron in the standard way, and it can accumulate. Whist an accumulation of iron does not lead to the symptoms of FA, it does mean the increased reaction between the iron and oxygen present in the body. This produces 'free radicals', atoms or groups of atoms with unpaired electrons. These can react with (causing breakdown) many vital cell structures such as DNA and the cell membrane. The heart, nervous system and pancreas are thought to be particularly vulnerable to free radicals, which can explain many of the symptoms of FA. The first and most important step in the condition; the genetic abnormality can now be used to diagnose FA. As I mentioned before this was how I was diagnosed. The recessive 'faulty' copy of the FA gene differs from the 'healthy' copy in that it is larger, bloated by useless extra base pairs, known as GAA repeats. The number of additional repeats is relevant to the severity of ataxia, due to the extra size preventing the DNA from unwinding efficiently to produce Frataxin.

Can anything be done to treat Friedreich's Ataxia? Although there is no actual 'cure' available at this point in time for FA, there are methods of correcting secondary conditions. Insulin or a controlled diet can be used for those who also develop diabetes as a result of FA. Those who develop Scoliosis as part of the condition (like me) could benefit from a brace or surgery, and exercise can help maintain the strength of the heart and muscles. Currently, there are many trials underway, at varying stages, such as for Idebenone, a powerful 'antioxidant'. Antioxidants are seen as the great enemy of free radicals as the can safely react with them, preventing cell damage. Besides assisting in the treatment of disease, antioxidants are tools in the fight against cell aging, cancer and are believed to speed recovery from illness or injury. Other projects ongoing to develop methods of delivering Frataxin to cells of the body, include one using HDAC inhibitors. These have been shown to be effective in vitro and mouse models, however human trials have not yet begun. The biggest limiting factor to the progression of such research is of course funding. One possible long-term goal is the development of gene therapy for the treatment of FA. This involves removing the 'faulty' gene and replacing it altogether with a 'healthy' copy. This is difficult because DNA is present in every cell of our bodies, and accomplishing such a task would be even more difficult than building a sandcastle by moving a grain of sand at a time. Another distant possibility is the use of stem cells to regrow damaged tissue. These can be harvested from two sources:f Embryonic stem cells (ESC) and Adult stem cells. Despite the technology’s infancy it has a huge potential to treat many conditions.