Mito Sufferers and their stories:

 

Kara’s Story

Kara, our 11-year-old daughter, is the eldest of 3 children, and was born into pretty boring family histories of good health. We had no idea that I had the mitochondrial defective gene that was to lay our future on such an uncertain path!

 

I am a doctor (GP) myself and 20 years ago at Uni, mitochondrial diseases were very much an unknown entity and we were told never to worry about such a rare problem!! With the incredible growth and understanding of genetics, what was once thought to be a 1 in 20,000 incidence of mitochondrial disease is now thought to affect nearly 1 in 250 Australians, and still possibly growing. Many were misdiagnosed before as problems like cerebral palsy, muscular dystrophy or we just simply didn't know. Now there are over 100 known subgroups of mitochondrial disease, including MELAS (Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-like syndrome).

 

Kara’s “uniqueness” became obvious when she started school in 2005. Her slowness to complete work, her poor balance and ever poorer sporting skills made Kara simply seem “hard work”!  The excess body hair, early loss of teeth, her slowness in all tasks, repeated spontaneous vomits, plummeting percentile bands, an awkward running style, stiff muscles, “stick legs”, stress incontinence (we were scared to make her laugh!), jerky eye movements, poor concentration, and a “failed” OT (occupational therapy) assessment, should have rung a few mitochondrial bells if I had heard of it at all!!  I’m ashamed to say it, but I’m even medically trained myself!! My husband and I had a favourite phrase, “THAT’S KARA!”

 

Two years ago, right after she turned eight, I found her one morning semiconscious and vomiting in bed. A bad gastro seemed the most obvious to me, not her first MELAS attack, when she essentially had her first stroke. The diagnosis was quick, the history now obvious, and unfortunately the attacks frequent (approx 10 by now).

My knowledge of MELAS was zero, my textbooks said nothing, so when an internet search revealed the list (overleaf) of what she and us as a family were to face…you could imagine our devastation. Not much gets untouched, leaving little for the sufferer to do as they often lose their eyesight, hearing, fine and gross motor skills, coordination, balance, memory (dementia is common), muscle strength, etc. These patients start as normal, then this develops.

 

At that time she was diagnosed, Kara was working hard to learn as much as possible, wanted to experience all in life, dreamt of being a nurse or doctor so she could help people, and talked about marrying her boyfriend, Nick. No one can predict the precise path of any MELAS patient, but Kara starting on the younger end has the poorer life expectancy of mid teens. 

With a brain scan that looks “moth eaten”, we are extremely blessed that Kara looks as well as she does. Kara’s own determination has driven her to be where she is, and every now and then we see glimpses of brilliance and can’t help but think of her lost potential. She wanted to try everything, read everything, help everyone, and looked for extra homework, which kept her near the top of the class till the first attack.

 

School is now a social drop in place, as simple tiredness has triggered her last three attacks. Her motivation to learn is a fading light, early dementia has now set in, she has become increasingly unsteady, even slower in all daily tasks, her hearing now requires aids, her eyesight is slowly disappearing, and her personality is regressing along with her social graces.  Now, with a few years at most to live, our gorgeous girl is disappearing not only gradually but also in a step-wise fashion because of each stroke she has.

 

Thankfully Kara has no real insight to what MELAS means, but unfortunately her nine-year-old brother does; her three-year-old sister is yet to learn. She is an extremely happy girl, full of love and still cares for others. She donated a $1000 worth of toys she won to the kids ward she frequents, because she was “worried about the sick kids with broken legs”!?

 

Mitochondrial disease leaves families isolated not only because of the physical disabilities of the illness, but also the fatigue stops you from doing all you wish. People (and even my colleagues) generally do not understand the nature of the disease nor can barely say the word.  To say your child has leukaemia or a brain tumour provides a fairly good image of what this means, but to say your child has MELAS produces confusion.

 

As mitochondrial diseases are nearly all  progressive and hence fatal, the family get to watch their loved one (whether it be a child or adult) deteriorate over years or maybe decades, and often a few family members are affected.  It is a path even us as a family just barely understand, a path that takes away all their basic skills, leaving little for your child to enjoy.  I might be the beginning of the gene, but Kara is not the end either, as my son is positive also and just starting with fatigue and weakness issues.