It feels like a life time ago I was finally told they thought they had a diagnosis for me; Ataxia Pancytopaenia. My amazing Immunologist thought the symptoms sounded exactly like me but the trouble was that nowhere at the time was able to do the test to confirm it. At the time there was only about 25 people in the world with the condition. This was 5 or so years ago.
Finally the gene mutation was identified, a mutation of SAMD9L and a new diagnosis which explained so much. Unfortunately due to the rareness of this type of Ataxia no progression predictions can be made and it really is one day at a time.
To walk a short distance now I need my stick on one side and someone offering me an arm on the other whilst for long distances I need a wheelchair. If I’m going from my house I use my mobility scooter, which the dog runs along side on walks.
The other day I was picking up dog poo in the garden, lost my balance and ended up sitting on the grass. I nearly sat in dog sh!t and if that doesn’t sum up life with ataxia I don’t know what does!!
Today is about raising awareness of this super rare condition. Ataxia affects only 10,000 people in the UK but for those of us with it it rules our life. Due to my various conditions I’ve always suffered from fatigue but it’s nowhere close to the fatigue from ataxia. I can generally be awake 2 hours before I need to sleep for 2 hours and by 7pm I’m in bed as my balance is too bad to stay up so my life has definitely changed since my diagnosis and progression.
So raise awareness, support anyone affected and try to understand what they are going through even if you can’t.
How Rare? 