My diagnosis

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The metal work was supposed to remain in my ankle but one of the pins was touching a nerve, and it was getting painful. I had been discharged from the hospital, so my GP arranged for me to see an Orthopaedic surgeon to see check it out and advise on the best course of action. At the same time my appointment came through for me to see a geneticist at Queen Elizabeth Hospital Birmingham as I was looking into my dad's condition which is hereditary.

The reason I chose to look into the possibility of inheriting the condition was after my accident I realised that my balance was getting increasingly more unstable, which was a worry echoed by my Mom. Who, since me and Zaynah moved in, had noticed I had been getting more and more wobbly as the months went on. Walking into things, tripping over, dropping things etc generally not being myself. At first we thought that it was because of my injury but when I struggled even using the crutches and walking in the boot I realised it must be something more. 

I had the test for Ataxia and discussed how the results can go with a little lesson in genetics from the Dr and got my diagnosis on the Friday.  Even though I kinda knew what the results say it still caught me off-guard, I was in floods of tears at the consultation. I think it was the relief of getting it confirmed and not just thinking I'm very clumsy combined with the daunting prospect of how my life was going to change.

My official diagnosis was Spinocerebellar Ataxia Type 3 (also known as Machado-Joseph disease). The symptoms are progressive problems with movement, experiencing problems with balance and coordination, speech difficulties (slurring etc), uncontrolled muscle tensing (dystonia), muscle stiffness (spasticity), rigidity, tremors, bulging eyes and double vision.  Also for good measure throw in sleep disorders such as restless leg syndrome or REM sleep behaviour disorder. So not only will I be stumbling around the place, struggling to speck clearly, I will also be tired during the day.

I was still tying to process what I had been diagnosed with when I got home, so I acted like it was just a normal day and I never discussed the results with anyone, as only I knew that I was going to get them that day.

The next day I had an appointment to discuss my ankle and the orthopaedic Dr confirmed that I will need a further operation the remove the metal. I think that was the final straw and when I got home it just all poured out along with all the tears.

My mom didn't want to leave me and Zaynah alone but she had classes starting in 90 minutes, it was too late to cancel, so she called my Aunty Di to the rescue again, who picked us both up and we spent the day a her house with my Uncle Roy.

After a good cry, a nap and some food I was feeling a little better but I don't think I fully came to terms with it.

    



 

 

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