Musings

Since posting my first rare disease day post, only six days ago but it feels like a lifetime, many people have contacted me.  Some of been telling me how they were impressed by my honesty, or bravery, or even my sense of humour (I actually like getting praise for that one!); some were giving me their thanks for putting words to their feelings; others were grateful because they didn’t feel alone in what they had gone through, or were still going through; then there have been the people who’ve contacted me to let me know that they have something to say as well.

This is one of those:

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“Rare Disease Day -29^th February”

On this day we mark the day and recognise the outstanding, but “overlooked” issues that citizens with a Rare Disease are faced with on a daily basis.

Events Worldwide, on local, regional and International are taking place- and you can be part of this very meaning full day- just by taking part, you are raising the awareness of Rare Diseases.

There are approx 6000 Rare Conditions (possibly more) many of these are “invisible Disabilities” and go un-noticed by many people.

 

“Ataxia  could be the most serious condition you’ve never heard of”

Ataxia is an incurable degenerative Neurological condition, it affects balance, speech and co-ordination.

I have Cerrebellar Ataxia a life limiting invisible condition that has made me give up my job as an electrician and rely on the care of my girlfriend.

I am chairman of Ataxia South Wales. A branch that covers a HUGE area, encompassing 6 health boards and 16 local authorities. We are a branch of National charity Ataxia UK.

We are based in the West of Wales, on the county boarder of Carmarthenshire and Pembrokeshire, which is very rural and this alone brings its own challenges.  We have recently set up a support group in Cardiff to cater for the East Wales membership.

Having Ataxia is very frustrating, not being able to carry out the daily tasks, that you used to do, getting used to watching others do “your work” and relying on others, constantly, for your care and wellbeing.

I spend a lot of time using the computer communicate to others on disability or Neurological issues, this is made possible with many online facilities, facebook http://www.facebook.com/pages/Ataxia-South-Wales/112678352094257?v=wall#!/pages/Ataxia-South-Wales/112678352094257?sk=wall and “online” network Livingwithataxia.org , a International rare disease community which I moderate (this is just one of my online inputs, as there is so many, I think to keep an active mind and as  mobile as possible to make life as normal as can be.

Ataxia South Wales is proud to be “spreading the word” about this “invisible” disability, on a local, national and international level with its attendance at many conferences including the Ataxia UK annual conference and the National Ataxia Foundation conferences in the US.

 

Alan Thomas

Ataxia South Wales chairman

Ataxia UK Trustee

Livingwithataxia.org  UK moderator  http://www.livingwithataxia.org/

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If you are affected by a rare disease, or you know someone who is, please feel free to contact me if you would like to share your experience on here as that would be more than welcome!

http://www.rarediseaseday.org/

@rarediseaseday #raredisease

“We delight in the beauty of the butterfly, but rarely admit the changes it has gone through to achieve that beauty.”  ~Author Unknown

They say that a picture can paint a thousands words, don’t they?  Well, today, I want to let Mercedes’ words paint a picture for you … a picture that I am sure you will agree is beautiful not despite of, but because of, everyt change, metamorphosis and discovery made along the way.

Butterflies and Battleaxes ~Mercedes M. Yardley

 

 

Williams Syndrome is a rare genetic condition that occurs in about 1/10,000 births. It occurs randomly across both genders and all ethnicity. It has a myriad of medical and developmental problems, including hypercalcemia, aortic stenosis, pulmonary stenosis, low birth weight and weight gain, characteristic facial appearances, hyperacusis, musculoskeletal problem, hernias, kidney problems, dental abnormalities, irritability, a starburst or lace pattern on the eyes, problems with sleeping, blood vessel problems, excessively social personality, unusual skill in music and language, developmental delay, learning disabilities and attention deficit.
Although symptoms may be treated, there is no cure.

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Mercedes M. Yardley wears red lipstick and poisonous flowers in her hair. She writes whimsical horror, nonfiction, and is the nonfiction editor for Shock Totem: Curious Tales of the Macabre and Twisted.

To find out more about her please visit:  http://abrokenlaptop.com/

 

 

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If you are affected by a rare disease, or you know someone who is, please feel free to contact me if you would like to share your experience on here as that would be more than welcome!

http://www.rarediseaseday.org/

@rarediseaseday #raredisease