As parents planning for our first child and coming from fairly mundane family histories of good health, how little were we aware of the MELAS mutation lurking in the depths of my own mitochondrial DNA.
Kara, our daughter and eldest of 3 children, was very sadly the first to bring this knowledge to the surface and MELAS into the light.... at the tender age of 8, with her life still ahead of her, or so it seemed.
Kara had always seemed "unique and hard work” with her quirky ways, the poor concentration and slowness of a day dreamer, and the coordination and sporting prowess much less than your average child. However, days after celebrating her 8th birthday, Kara had her first MELAS event... essentially a "stroke". The diagnosis was quick and her past history now obvious, but devastatingly the “strokes” (or events) were all too frequent, with 13 in the next 3 years. An internet search revealed the incredible list of what she and us as a family were to face…little was left untouched by the relentless progression of the illness, but she still had her loving smile and adoring ways, always eager to help, as she silently accepted the loss of her eyesight, hearing, speech, eating, swallowing, both fine and gross motor skills, mobility, coordination, strength, memory, knowledge and understanding, topped off with the final indignity of loss of bodily functions and the onslaught of diabetic needles.
However, she was still a happy girl, eager to love and care for others. In 2009, “worried about the sick kids with broken legs,” she won and donated a $1,000 worth of toys to the kids ward she frequented. Despite receiving the full effects of MELAS, Kara thankfully had little insight into what it all meant as she passed away in 2017 at the age of 18. However, we as a family know all too well now what devastation it reeks, especially as symptoms progress in her brother and begin in myself, our journey still has a long path ahead. Whilst our youngest daughter ponders her future health as she has the same mutation, and already by the age of 11 years, she’d decided not to have her own children as they too would inherit MELAS.
At the time she was diagnosed, Kara was working hard to learn as much as possible, keen to experience all in life, she dreamt of being a nurse or a doctor to simply help people and talked about marrying her boyfriend Nick.
The paths of mitochondrial diseases are difficult to predict, but children often don’t live past 20, with Kara being no exception. Despite all the damage the relentless onslaught of Kara’s MELAS did to her brain, we were extremely blessed that she looked as well as she did, as her own determination drove her on to be as good as she was. However, every now and then we saw glimpses of what could have been, and so we couldn’t help but think of a lost future and potential. School became an outlet for socialising, her dementia increasingly stole her motivation to learn, as our gorgeous girl slowly slipped away.
Mitochondrial disease isolates families, not just because of its long tough journey and progressive disabilities, but the fatigue of the sufferer becomes a barrier to experiencing life. Most struggle to say the word "mitochondrial", let alone understand it, and to say your child has MELAS or mito, seems to only provide further confusion. Instead, to say your child has leukaemia, cerebral palsy or asthma, immediately provides some clarity to the image of what you understand. Although MELAS itself may not provide hope, we fight on raising awareness, understanding, and funds whilst providing hope to our other children through our love and that of God’s.
Dr Karen Crawley MBBS, FRACGP
December 2020
Sadly, Kara passed away in March 2017.