Over seven years ago, our world was turned upside down when our then 2-year-old son was diagnosed with Duchenne, an incurable & terminal muscle-wasting disease. A few months after his diagnosis, whilst we were still in that dark place known as grief, we heard about a drug called PTC124. It was specifically for boys with nonsense mutations, a type of genetic mutation. Duchenne is actually caused by any one of many different types of mutations on the dystrophin gene – a nonsense mutation is one type and affects around 10% of boys. I remember frantically fishing out James’ genetic tests, and bursting into tears when I found out he had a “nonsense mutation resulting in a premature stop codon”. Our son would be “cured”. He would be one of the lucky ones, it seemed.
This news gave us hope, a hope that we held onto for 4 long years as PTC124 was rebranded Ataluren and went through trials that James was too young to partake in. Early trial results were promising, we hoped in our hearts that it would be the success we all hoped for and that James (and many other boys) would soon be able to take the drug as part of his daily regime of medications and supplements.
But the last trial had the plug pulled on it, after it was found that the boys didn’t improve. Cue another plunge into the depths of despair, and three years of grief and depression which followed as a result. It was like diagnosis day all over again, except now we had no hope to cling to.
Or so we thought.
There have been other drug trials ongoing, showing exceptional promise, but none which would benefit James. And when you are a parent of a child with a disease like Duchenne, where any sort of treatment is basically a “designer drug” due to the number of different mutations that could cause the disease, you selfishly only think of your own child.
However, it seems the past 3 years scientists have been working on Ataluren, modifying its dosage in the hope it would show improvement in the boys. It certainly isn’t going to be the “cure” we had naively hoped it would be, but it will perhaps buy some much needed time, and hopefully maintain quality of life for longer.
And that brings us to today. Today we received an email about James taking part in an upcoming Phase III trial for Ataluren, starting in January. It looks like 2014 is going to be a HUGE year for us, consisting of numerous visits to Sydney for testing and results. It won’t be easy on our family, not when we live interstate and have 3 other children to consider. And it won’t be easy on James either. But we don’t care, because we will do anything to give him a chance at life.
Because once again, we have HOPE.
And that’s something we didn’t have yesterday.