My name is Ami and I’m a disability blogger. I have a hearing impairment, vision impairment, transverse myelitis, sensory ataxia and a type of mitochondrial disease (currently undergoing tests for which type), among a few other illnesses.
Over the last few years I’ve learned that it is emotionally draining when receiving one diagnosis on top of another.
In 2017, I went from being the happiest I had ever been to my hearing deteriorating, losing my central vision overnight and ended up wheelchair-bound by September. The rate my health had declined, I didn’t think I would get to see 2018. The worst thing was that nobody knew why my health had rapidly gone downhill.
Somehow, I did. I was an in-patient at a neurology hospital for six days – I have never endured that amount of stress in my life. I had countless tests, from eye tests and nerve tests, to MRIs and a lumbar puncture. This was an awful lot to endure in one week and I spent the majority of the time between tests crying. Draining was an understatement.
As a result, from all the tests, I was diagnosed with severe nerve damage and ataxia. No mention of a follow–up appointment, no information or support was given. I was left to face the uncertainty of my future alone. I’d never felt loneliness like this before.
Being introduced to mitochondrial disease
The day after I came home from the neurology hospital I became very ill. I fell asleep at lunchtime that day and didn’t wake up until two days later, in a hospital bed. This was just the beginning of my nine month stay as an in-patient. I was in intensive care for a month due to being unconscious when first admitted, being in an induced coma for four days and contracting bilateral pneumonia. I then stayed on a stroke unit (I did not have a stroke, however I needed the same rehabilitation as a stroke patient), then spent six months at a specialist neurological rehabilitation centre to receive intensive physiotherapy and occupational therapy.
During my stay in intensive care doctors tried to figure out what had caused the rapid deterioration of my health. This was when mitochondrial disease was first mentioned to me. I’d never heard of it before, and all I kept thinking was ‘if this disease has caused me to become critically ill, then what does this mean for my future?’
I was terrified. I was convinced that I was going to die. I became very depressed, constant feelings of regret for the life I had not experienced yet. I’d hoped to marry my fiancé, but this was now in jeopardy. We hoped to start a family, but my dreams of becoming a mum were no longer within reach.
Adjusting to the possibility of mitochondrial disease
The more I tried to ask about how mitochondrial disease would affect me, the quicker I realised how rare it is. I researched the disease online so I could get a bit of an understanding about what it was. It is such a complex condition and has many types. In short, mitochondrial disease is an umbrella term used to describe disorders that are caused by the mitochondria in our cells and organs not functioning properly. As it is such a complex disease numerous symptoms present themselves which often leads to misdiagnosis as the symptoms appear the same as another condition.
The disease is described as progressive which led to me wanting to make the best of what I still could do. This included marrying my best friend, walking across the finish line at a fundraising event and seizing any opportunity I could.
Confirmed diagnosis and hope
In November 2019 the biochemistry in my muscle biopsy confirmed that I have Mitochondrial Disease. A long in-depth discussion with my consultant reassured me that not all types of the disease are progressive and that it won’t stop me from having children – just that we need to look at alternative options.
Going forward, I’m fortunate to have the consultants and specialists involved with my case. With their care, I’m able to live my life just like I wished to. I don’t want to waste my life grieving for the life I wanted. I’m going to make the most of everything.
Visit Ami’s blog, Undercover Superhero.