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Shelley's Story

I had never heard of mitochondrial disease until 3 years ago. My journey started when my mother experienced a rapid decline in health, losing muscle in most parts of her body and struggling to breathe. Her, my older brother and I all experienced hearing loss at a young age (32, 13, 21 respectively). After several doctors’ appointments and hospital admissions, it was established that my mother had heart failure, muscle weakness and fluid on her lungs – she passed away shortly after symptoms progressed in Feb 2016. Only a few months prior to her decline, my brother experienced what appeared to be a heart attack. It was only after my mother’s passing that a report from a biopsy came back to indicate probable mitochondrial cytopathy in my brother. I was then genetically tested through a blood test at the genetic centre and was given the diagnosis of MELAS (Mitochondrial enchephalomyopathy, Lactic Acidosis and Stroke-like symptoms). A few months after my diagnosis, my brother started experiencing myoclonus seizures, his leg twitching resulting in severe falls. Following this, he had migraines, vomiting and hallucinations, then stroke-like episodes where he lost his eye sight for weeks on end. In June 2017 he got an infection and passed away, 3 weeks short of his 35th birthday.

Mitochondrial disease has not only taken away half of my family and my best friend (my mum), it has left me fearing for my own future and for my partner. There are so many adjustments required in terms of employment, relationships, responsibilities, finances, health access and starting our own family. When my mother passed away, my maternal instinct only increased, knowing what a truly special person she was and how incredibly important she has been in moulding me as a person.

There are so many times I reflect and give thanks that I possess some of her quirks and personality traits. I so want that for my own child, yet I fear passing on this awful disease to them. Throughout the last 3 years I have done a great deal of research on mitochondrial disease and at times have stopped myself from learning more as the prognosis is bleak and there are no treatments currently available.

My current symptoms of mitochondrial disease include bilateral sensorineural hearing loss (moderate to profound), daytime hypertension and thickened left side of heart (high risk of heart failure due to family history), mitochondrial diabetes insulin-dependent, elevated lactate CSF, muscle weakness and exercise intolerance. My energy levels fluctuate greatly from day to day and at times I am paranoid about getting sick or taking medications that may be contraindicated to the condition. Lifestyle changes have to be made to accommodate my diabetes and weakness to ensure that I don’t overexert myself.

My month is most often filled with various doctors’ appointments: cardiologist, neurologist, endocrinologist, gastroenterologist, audiologist, physiotherapist, psychologist and IVF treatments. Not only does this consume my time and energy but is naturally expensive and requires me to take a large amount of time off work resulting in financial loss. There is sadness, guilt, frustration, fear, paranoia, anxiety and anger about how incredibly devastating this disease is and the vast impact it has on every single aspect of our lives. Guilt surrounding my lack of understanding when my mum and brother were sick, guilt at having to place a great amount of responsibility on my husband at such a young age and stage in our marriage, fear of experiencing what my mum and brother did, fear that my husband may have to witness this and be left with the consequences. Yet there is still hope that we can progress with change and learn quickly from our international Mito partners about how to save lives and prevent this disease from spreading.

While having to come to terms with my losses both of family and my own limitations, I am devastated that this disease could take away the opportunity to have my own child. While I am aware that there are alternative options such as fostering, adopting or egg donation, my partner and I have a strong desire to have our own biological child. This desire is not only because of the genetic components, but because I truly appreciate and value what I inherited from my mum and often look in the mirror to reflect what part of me belongs with her.

Additionally, if anything were to happen to me, my partner has a piece of me within our children. While this may not be everyone’s choice, it should be an option for people with this disease to be able to have their own biological child, disease free. We have tried and exhausted all other available options within Australia and are considering accessing mitochondrial donation in the UK as we are running out of time to start our family. Naturally it would be the preferred option to access this procedure in Australia.

In my many years of working professionally in the field of disability, mitochondrial disease can be utterly incomprehensible and has such a large spread of symptoms impacting several organs at a time. This is challenging both physically and mentally (at the same time!). As stated above, mitochondrial disease has already taken a great deal from me and my family and I am hopeful that we can bring about change, if not for me personally, for our future generations and society.

Shelley lives in Australia and gains support from the Mito Foundation.

November 2019

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