I was excited.
Nearly two years to the day after we received my daughter Anakha’s diagnosis, I came across another child with the same rare condition.
Not a nameless statistic in a medical journal, but a real-life little girl, with a name and face.
Someone else just like Anakha!
Then, out of the blue, I found out that Little Andrea* had recently passed away.
My heart shattered.
I obsessively poured over her mother’s Facebook page, desperately trying to understand what had happened. Anything that I could cling to, to differentiate and distinguish my daughter — that what happened to Andrea would not be Anakha’s outcome.
I am mindful that living in Canada, specifically near Toronto, has played a significant role in my daughter’s recovery. We are a mere half-hour drive away from a world-renowned children’s hospital, and have two world-renowned mitochondrial disease specialists at our fingertips.
Within days of Anakha’s first hospital admission, we were told she has leukodystrophy — the abnormal development or destruction of white matter in the brain.
The next step was to determine what disease was causing the leukodystrophy.
At The Hospital for Sick Children in Toronto, an entire battery of tests were immediately run — blood-work, spinal tap, ECG, full organ scan, muscle biopsy, and genetic testing for several hundred candidate diseases and gene mutations.
What did it cost me?
Not a penny. A shining example of our publicly funded health care system.
The four-month wait to get the genetic testing results were excruciating. But with a diagnosis in hand, we were able to understand how we can help Anakha.
I immediately connected with other mito families, mitochondrial disease specialists and researchers around the world who provided incredibly useful advice on how to help Anakha. We learned to avoid air travel because it may adversely affect her mitochondria, minimize her intake of foods high in the amino acid glycine, avoid surgery and anesthesia, ensure she continues to exercise — a critical requirement to fight mitochondrial disease, and most importantly, we avoid infection at all cost.
There was hardly any delay in getting Anakha on the mito cocktail medications which studies indicate may have helped in slowing the progression of her disease. Living in a large metropolitan area has given us access to therapists skilled in lesser-known modes of therapy, such as Anat Baniel Method, Conductive Education, Cuevas Medek Exercises, and Cortical Visual Impairment training, all based on the principles of neuroplasticity.
Without genetic testing, it would have been impossible to confirm Anakha’s condition as being a mitochondrial disease. And without government funding, the cost of genetic testing is beyond the reach of everyone.
But for our friends in the United States, things are quite different.
Children like Anakha and Andrea are routinely denied access to genetic testing as a method of diagnosis. Insurers deny the need for testing, claiming that it will not affect the treatment of the condition.
But little Andrea throws that theory into question.
Andrea’s family did everything they could within their power and knowledge for their little girl. But they did not have the right information at the right time. Information that could have made a difference.
They had to wait nearly two years after she first fell ill to find out that she has the same mitochondrial disease as Anakha. As a result, Andrea had not been on a single mitochondrial disease drug, nor was therapy emphasized as a form of treatment. She had multiple surgeries, went on cross-country flights, and suffered from numerous recurrent infections.
Perhaps knowing what her condition was would not have altered the course of her disease.
But without that key piece of information, Andrea was not given her fullest chance to fight.
Where she lived should not have played a role in her life.
But it did, and it still does, for millions of children.
*Name changed to protect privacy
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