Our guest post on this Rare Disease Day 2018 comes from Alan who lives in Whales and is fighting ataxia head on. Alan is raising awareness of this disease through his blog and on social media. Connect with Alan to learn more: http://www.ataxiaandme.org Facebook @ataxiaandme Twitter @ataxiaandme Instagram @ataxia_and_me
I have a Rare disease and I am Crossing Borders
My name is Alan. I cross many Borders, as a person with who happens to have a rare disease.
These borders are physical, geographical and psychological.
Crossing so many borders, I have gained the name – rare disease warrior and also the hashtag #AlanEveryWhere.
That “Lucky” rare disease is Ataxia……..
So what is ‘Ataxia’ ? A Greek word meaning ‘lack of order’.
People with ataxia have problems with movement, balance, and speech. It is a neuro-“degenerative”, “life-limiting” condition and has NO cure. Accused of being drunk is a common occurrence. (Although on a weekend evening it may be hard to distinguish between Genuine and “self inflicted”).
From an early age, I have always walked with a wobble and sounded a bit slurred. Many people just thought “oh that’s just Alan!” I achieved good qualifications at school and went on to run my own electrical contracting business. But the condition progressed very slowly, and lack of co-ordination along with electrical circuitry “does NOT mix”.
I managed to carry on, until the day when….. one day while making sandwiches for work, and found buttering Bread seemed to be taking more and more concentration. “A simple task, you take for granted” it was then I thought about looking into this (which may of been a simple answer!, how wrong was I?)
I went to my GP, who on numerous occasions told me to take time off work and rest. This went on for many years. On one visit my GP was not available, so I saw a locum (who had recent knowledge of similar conditions/symptoms). He asked for more Neurological tests and referred me to a general neurologist, where Cerabellar Ataxia was diagnosed. I was told the diagnosis, the probable outcome and there was nothing that could be done, and “that was that”.
I returned to my GP, who said that I had a rare condition and was unlikely to meet many others, with this rare disease. Upon returning home I tried researching Ataxia, via the internet, but (at the time) found there wasn’t a large amount of consistent information available (along with some good and bad stories).
Since this lack of information is common in many Rare disease instances, I am determined that information should be available to patients with all Rare diseases plus a support network is vital, so the feeling of not being alone does NOT add to the patients worries.
I see a GENERAL Neurologist in a local hospital, but their knowledge of Ataxia is very limited (and I find myself telling them about it !) But I have to travel to another hospital in Sheffield, Uk, to attend a specialist Ataxia clinic. This requires a journey of 257.84 mile(s), (nearly 5 hours, by train)!
With many of the issues that can be recognised by other conditions such as overlapping symptoms, mis-diagnosis, support needed today and everyday.
Plus – the Chief Medical Officer, in the home, is the patient or family member or Carer .
This led me to establish the “Ataxia and Me”, to share the patient experience, to a wider arena, a patient led, patient group based in Wales with a global following.
With the focus on Ataxia and also encompassing associated rare disease and movement disorders.
I am determined to make information, awareness, and knowledge available to patients with all rare diseases together with a support network, which is vital to reduce patient worries and not to be left alone. Something I am also keen to see change is the “uniformity” of services available to patients with a neurological condition. For example, the services offered to a younger patient seem to cease when they transfer into adulthood. This is a very worrying situation.
There are between 6,000 and 8,000 known rare diseases and around five new rare diseases are described in medical literature each week.
1 in 17 people, or 17% of the population, will be affected by a rare disease at some point in their lives. This equates to approximately 3.5 million people in the Uk. But, if all of the people with a rare diseases lived in one country, it would be the world’s 3rd most populous country.
Rare Disease Day is on the last day of February (this year 28th) although on a LEAP year this will be the 29th “A Rare Day”.
In Wales our rare disease day Parliamentary reception was on 14th February (Valentine’s day) so it’s fine to “love your rare disease”, we are all in this together!
You can follow us via http://www.ataxiaandme.org
and via social media
Thank you, Alan, for sharing your inspiring story with us!
If you have a story to share with our readers about participating in a clinical trial, overcoming adversity, or living with a chronic condition, please let us know. We’d love to have you guest blog for us. Guest blogging helps others outside of your disease area learn about your struggles and discover your passions. We will help promote your website and social media accounts, as well as your favorite advocacy group. Contact us to get started sharing your story now!