#FSHRareTalent for #RareDiseaseDay 2018

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I decided a few of years ago that I should talk about my Muscular Dystrophy on the blog. It was something that I had briefly mentioned in my posts in passing but not in detail until people began to express an interest in it after meeting me at a blogging event, and seeing for themselves how it affects me.

Since then it has become a topic that I continue to talk about on here and I am always really proud of that.

Although many people may have heard of Muscular Dystrophy not many have heard of the particular strand that I had. FSHD gets its name because of the type of progressive loss of all skeletal muscle, where weakness is usually noticeable across facial (facio), back (scapulo), and upper arm (humeral) muscles.

Throughout the years I have tried to show my readership the highs and lows of living with it and bring a wider awareness of this horrible disease.


Yet, there are still too few people talking about it. 

With it being Rare disease day I thought this would be the perfect day to share some more about it with hope of more awareness.

There is still little known about it, so here is what we do know:

FSHD is estimated to affect about 870,000 individuals worldwide, the actual number of individuals with FSHD could be significantly higher due to undiagnosed cases. However, there are only between 2,000 to 2,500 people in the UK. 

FSHD is worldwide in distribution, affects both sexes equally, and has no particular racial, geographic, or ethnic distribution.

The age of onset can range from infancy to adulthood. The eventual extent and degree of muscle loss is also highly variable. The prognosis for FSHD includes a loss of muscular strength that limits both personal and occupational activities, and approximately one-quarter of patients over 50 years of age require the use of a wheelchair.

Although the progression of FSHD is quite variable, it is usually relatively slow, with most patients developing noticeable muscle weakness by the age of 20 in males, and by the age of 30 in females.

Thirty percent of new FSHD patients have no prior family history of the disease and are a result of congenital spontaneous genetic mutation. Once present, however, FSHD is genetically transmissible in an autosomal dominant fashion. This means that an affected parent has a 50 percent chance of passing the genetic defect on to each child.

As you can see there is very little known and what is understood is so varied. Sadly, along with this there is even more limited understanding related to finding a cure or treatment.

This is why I think days like today are important. More awareness leads to more understanding which then leads to more research. 

The FSH Society is asking for your rare talents to help bring FSH into the conversation around rare diseases today. 

I have been thinking about this for a while and couldn't come with anything that I thought was a particularly rare talent of mine but they also were happy with any talent if you feel like showcasing it. 

So I have decided to share my art work: 

What do you think?

What talent do you have? Is it a unique or rare one?

Be sure to spread the word and your talent on Twitter, Instagram or Facebook with the hashtag #FSHDRareTalent and/or tag @FSHSociety

I will, of course, be donating to the FSH Society which you can do too if you share your talent or not by clicking the link here. 

Either way, all rare diseases should be spoken about more so take advantage of today and get talking.