Our beautiful six year old daughter, Taylah was in dance rehearsal when I noticed that the left side of her body wasn’t doing what it should have been. It reminded me of the droopy eye she had when she was two, and the trouble she was now having putting on her thongs.
We took Taylah to our local doctor who requested a CT scan, and referred us to a neurologist, who ran further tests including a MRI. The neurologist suggested mitochondrial disease (mito) as a possible diagnosis. I googled mito and was hit by devastation – we stood to lose our precious daughter. There was a six months wait for an MRI, so we were worried when given an appointment a week later.
The news was horrible. It was suspected Leigh syndrome, a type of mito, but we were a long way from confirmation.
Another neurologist, Professor Christodoulou, an expert in paediatric mito, ran bloods tests, and skin, liver and muscle biopsies. It took two years to get Taylah’s results but they were still inconclusive. The rest of our family had blood taken and sent to America for testing, again waiting many, many months for the results.
We have watched our active little girl who loved to dance and ride her bike with her big brother become wheelchair bound, suffer bad dystonia (involuntary muscle contractions) and have no energy to stand or walk. I now mainly feed, bathe and toilet her at home and at school. She is a social butterfly and loves to be with people, but increasingly I need to interpret for her as her speech deteriorates.
Taylah’s love for life is amazing, and she doesn’t let mito get in her way. She loves school and is the vice-captain; she has a smile on her face everyday and is the best sister. Watching this happen to her and knowing there is nothing I can do kills me a bit more every day.
With today’s technology how is there still no cure for mito?
After four years of waiting we finally received confirmation that Taylah has Leigh syndrome. Both my husband and I have a mistake in our genetic makeup, which we have passed on to Taylah. To our massive relief, our boys are unaffected.
Taylah understands a little about what is happening to her but we decided that she doesn’t need to know everything. We believe that if she remains positive, and we make her feel as normal as possible she will remain strong. I think, that apart from her cocktail of drugs, the best medicine is to keep her smiling and laughing.