The F word

F WORD (Friedreich’s ataxia)

There are so many ways of becoming disabled, through an accident, genetic disease or non-genetic disease; we need more awareness and less worry, more self-education and less asking what’s wrong with that guy.  

I don’t know a lot about Friedreich’s ataxia for two reasons there isn’t a lot of research on Friedreich’s ataxia and second I don’t want this disease to define who I am as a person I’m always going to be Chad Jason not, the guy with FA. 

Symptoms of Friedreich’s ataxia  

Friedreich’s ataxia (FRDA or FA) is an autosomal recessive genetic disease that causes difficulty walking, a loss of sensation in the arms and legs and impaired speech that worsens over time. Symptoms can start between 5 and 15 years of age. Many develop hypertrophic cardiomyopathy and will require a mobility aid such as a cane, walker or wheelchair in their teens. As the disease progresses, people lose their sight and hearing. Other complications include scoliosis and diabetes mellitus. (Taken from Wikipedia)

I’m 29 years old this year 2020, I was diagnosed with FA in 2011 at 20 years old my symptoms only really started or became noticeable in 2010 at 19 years old when I saw myself as a very clumsy guy. 9 years after diagnoses, I’m still walking without aid speaking and I can hear without aid, however, I do think I’m a little deaf but I pass my hearing test every year sight and sugar levels seem to be good.

The disease 

The condition is caused by mutations in the FXN gene on chromosome 9. The FXN gene makes a protein called frataxin. Degeneration of nerve tissue in the spinal cord causes the ataxia; particularly affected are the sensory neurons essential for directing muscle movement of the arms and legs through connections with the cerebellum. The spinal cord becomes thinner and nerve cells lose some myelin sheath. (Taken from Wikipedia)

Both of my parents are carriers of the FXNgene which came together and made me. Lucky son of a gun lol. This disease has affected my legs more than my arms at this stage.

No effective treatment exists, but there are several therapies in trials. FRDA shortens life expectancy due to heart disease and some people can live into their sixties or older. (Taken from Wikipedia)

FRDA affects 1 in 50,000 people in the United States and is the most common inherited ataxia. Rates are highest in people of Western European descent. The condition is named after the German physician Nikolaus Friedreich, who first described it in the 1860s. (Taken from Wikipedia)

Side note

Many People confuse FA with (Joost van der Westhuizen and Professor Stephen Hawking) motor neurone disease, it has similar symptoms but motor neurone disease affects the muscles in the body FA affects the nervous system or the cerebellum.

How it’s affected me

FA has affected many people but every individual is affected differently some may be mobile and able to live normally after ten years of having symptoms and others may be affected so badly they can’t do anything for themselves after two years of having symptoms. I’m one lucky chap I can still do all normal day to day things, sit informs of a laptop and write this blog and even drive my manual car. 

Now don’t get me wrong I live a more or less normal life but there are a few things I avoid doing or would need assistance doing, jumping, bending down to long, stairs without railings, walking long distance or walking on uneven ground flooring or even standing for too long or doing things that require fine coordination. 

Never the less I’m very optimistic, I love doing things for myself as I would like to do as much as possible without assistance even if I struggle a little bit. A challenge failed will only make you stronger.

Positivity will always win 

I believe a person should never say “I can’t do it” as our brain will believe those words and your ability would to taken away like an unwanted gift. Professor Stephen Hawking could not physically speak so he created a program to talk for him.

Make a way, live a positive lifestyle.

More info via links.

Friedreich’s ataxia

https://en.wikipedia.org/wiki/Friedreich%27s_ataxia

Joost van der Westhuizen

https://edition.cnn.com/2017/02/07/sport/joost-van-der-westhuizen-south-africa-rugby-alistair-hargreaves-cobus-visagie/index.html

Stephen Hawking

https://en.wikipedia.org/wiki/Stephen_Hawking

Cerebellum

https://www.medicalnewstoday.com/articles/313265

Nikolaus Friedreich