Laura

It all started with a change in my speech. I honestly thought I may have suffered a stroke whilst sleeping or something because it suddenly became difficult to articulate certain words and it was quite slurred. This was during my mid – 20s and up to that point I was completely “normal”. Between the ages of about 23 and 28, I started to notice worsening in my symptoms; my voice became even more slurred and slow paced, I would become breathless after speaking for a while, my eyes would struggle to focus and I couldn’t carry a cup of tea without spilling it.

Fast forward to 30, family members were starting to comment and so I went to the doctor and was initially diagnosed with vitamin D deficiency. More tests were done and I was referred to a neurologist who clinically diagnosed me with closely progressive cerebellar syndrome. I then went on to have an MRI where they discovered cerebral atrophy, along with a genetic test confirming a specific diagnosis of ataxia with oculamotor apraxia type 2 (aoa2). This type of hereditary ataxia is very rare and so the understanding behind it is limited, as were my choices of treatment (as is the case with many ataxians).

I was to rely on therapies to help the condition which at first seemed unfair. I have been to physio, seen an occupational therapist and speech and language therapist; all of whom have been helpful. But I am beginning to understand that it is ultimately down to me to do the research, the exercises and just be patient with myself and learn to pace.

I am still learning and exploring thing that make me feel better- even if it is only temporary, but I am hopeful for the future and glad that I have the NAF and other supporters behind me.