The dizzy disease (My Experience of Freidriech's Ataxia)

Member Name: sweetlady

Product:	My Experience of Freidriech's Ataxia
Date:	12/03/01 (445 review reads)
Rating:

Advantages: none

Disadvantages: it's frustrating

*~~*What is Friedreich's Ataxia?*~~*

The word "Ataxia" comes from the Greek word "ataxis" meaning "without order" or "incoordination". A person with ataxia is often mistaken for being drunk. Friedreichs Ataxia is the most common form of hereditary ataxia. This means that it is passed genetically from parents to children. About 1 in 100 people carry this gene without displaying any signs of Friedreich's Ataxia.

The hereditary ataxias include a broad range of physical changes occurring within the nervous system, making classification difficult at times. As research discovers the basic underlying cause(s) of ataxia, diagnosis of specific types of hereditary ataxia should become more precise. The hereditary ataxias are divided into two main groups, those that are recessively inherited and those that are dominantly inherited. Ataxia respects no particular age or race.

* Onset · Childhood to adolescence.
* Symptoms · Impairment of limb coordination, with weakness and muscle wasting.
* Progression · Severity and progression of disorder vary. Often associated with diabetes/heart disease.
* Inheritance · Autosomal recessive.

*~~*What are the symptoms?*~~*

Balance and co-ordination are affected first. With Friedreichs Ataxia this usually becomes apparent in the early teens, but with many of the cerebellar ataxias, onset may start at any age. As the ataxia progresses, a wheelchair becomes necessary and other problems begin to occur. Lack of co-ordination of the hands and arms affects fine motor skills such as eating and writing.

Speech becomes slurred and swallowing can cause choking. Precautions need to be taken to prevent inhaling fluids and secretions, as respiratory infections can be a problem.
Because of poor muscle support, the spinal column may become abnormally curved. This condition is called scoliosis and is often the first sign of Friedreich
s Ataxia. The most serious symptom of this disorder is cardiomyopathy. The muscles of the heart become gradually weakened causing irregularities in the heart rhythm. A person with ataxia should undergo a electrocardiogram (ECG) every year to monitor this condition.

*~~*How is it caused?*~~*

Genes are the elements of the body's cells which are responsible for our physical characteristics. (eye colour, hair colour, body build etc) The gene for hereditary ataxia is an abnormal gene. New genetic techniques have located the Friedreichs Ataxia gene, this gene has been named X25 and is found on chromosome 9. The abnormal gene produces a protein called FRATAXIN which cause the symptoms of Freidriechs Ataxia to appear. Much research is needed if this problem can be fixed.

There are two types of hereditary ataxia, dominant and recessive. Dominant ataxia is passed on as a dominant hereditary disease. Each child born of a parent with dominant hereditary ataxia has a 50 - 50 chance of getting ataxia. In recessive types, like Friedreichs Ataxia, parents do not exhibit symptoms. They each carry a recessive gene which may cause ataxia in their offspring. The recessive gene may lie dormant for generations until suddenly two people with the defective gene have children. Only if both parents carry the gene there is a 1 in 2 chance the child will be a carrier and a 1 in 4 chance it will develop ataxia. Often, there is no family history of the disease. Accordingly, until a child develops ataxia it is not possible to tell if anyone else in the family will be at risk.

*~~*What is the long-term diagnosis?*~~*

The first thing about FA to remember is that everyone is different. A person can begin to show symptoms of FA anytime from birth to their mid 20's. Not all sufferers have heart problems, diabetes, eyesight or hearing problems, or even speech problems. Because of this, a diagnosis of Friedreichs Ataxia is often difficult to pin-p
oint.

It is safe to say that all people with FA will end up in a wheelchair by their mid-thirties in the very best case scenario or in their first ten years in the very worst. There is no way of knowing how fast degeneration will be. The only certainty is that the mental capabilities of someone with FA will remain completely intact and they are completely capable of studying, holding down a job and having children.

~~~~~~~~~~
I was diagnosed as having Friedreich's Ataxia at the age of nine.

My mum noticed I was a bit unsteady and I was tripping over nothing (she said I would have tripped over a chalk mark). The doctors just kept saying it was because I was growing but my mum knew it was more. I was eventually referred to a specialist. I was then taken into hospital where I was given numerous tests including a cat scan , a lumberpuncture, e.c.g. etc. (scary stuff for a nine year old). After 2 weeks it was concluded that I had Friedreich's Ataxia.

Imagine how my parents must have felt when they were told that they're nine year old daughter would have to have major heart surgery by the age of 16, be confined to a wheelchair by the age of 20 and probably die at 26. Well, I've just turned 34. I've never had heart surgery, I do have a slight heart murmer. I am confined to a wheelchair but I'm still alive, I'm very healthy and hope to be around for a while.

My mum didn't tell me until I was fourteen she didn't want to scare me, She was "freaked out" enough for us both. I
don't think I would have been aware of the severity of my situation at 9. When I was told at 14, I cried a lot but I would have to come to terms with it eventually, what else could I do!

My life hasn't always been easy but I've had a lot of happy times, I've got a great family, a lot of friends, a lovely
boyfriend and an amazing son. My advice to anyone is to stay
positive and make the most of what you've got.
~~~~~~~~~~~

FA is rare so most people who have it are pretty much isolated. ie. In my area I know of 2 sufferers, there were 3
but 1 man died a few years back due to "complications"(?).

There is a lot of progress being made in terms of research but it is dependent on fundraising. You can find out more
about this charity by visiting http://www.ataxia.org.uk.

Summary: