Maybe you have noticed that I don't often post about a cure. Maybe not.
Some big discoveries have been made in the last 20 years, allowing our kids to make it to teenagers and beyond. We are always working towards a cure. It's something I hope for but something I am not relying on.
A few years ago, a company called Vertex started making real progress with actually changing the way the damaged cells work. It was the closest thing that anyone had ever gotten to a cure. With each bit of progress made, it was shared like wildfire throughout the CF community. Statuses updated, links shared, etc etc.
I was a bit of a party pooper. I never shared the news or let myself become excited about it. To me, it was still too far away. Still at "Today Tonight" level.
So it turned out that the drug wasn't suitable for the majority of the CF population. But from it came a different version of the drug which helped people with the G551D mutation.
I'm getting ahead of myself. Cystic Fibrosis occurs when a baby inherits 2 CF mutations. These mutations/genes have names. The most common mutation is DeltaF508. Ruby has one DeltaF508 and the other mutation she has is 621+1G>T. These mutations stop the process of salt being transferred throughout the cells. The drug that Vertex is producing is making that salt transfer happen, therefore stopping all the symptoms of CF.
As Ruby doesn't have the mutation that the drug targets, I didn't really think much of it. And to be honest, I thought it would be years before anyone could see the benefits.
Then I started hearing things like this:
Since starting Kalydeco (the brand name of the drug)
"His exercise tolerance blows my mind. The increase in energy has been undeniable."
"A week ago I couldn't chase my dog around my back yard more then two maybe three times. I am now able to do it 5 or 6 times before I feel like I'm about to pass out"
Sweat tests have lowered, people have been able to stop using Creon, lung function has increased.
Pretty amazing stuff...life changing stuff! The more of these things I read (and there are HEAPS) of them, the more I allowed myself to think that yes, maybe there will be a cure in Ruby's future. Once they have
a drug that targets her mutation.
So I'm on Facebook today as normal, and a post pops up on my newsfeed. And the post is written by an American mum who got Kalydeco for her daughter who has the mutations DF508 & 621+1G>Tand how she has been on it for a month with awesome improvements! So that means that there IS hope!
A long way to go with getting the drug to Australia and approved and paid for...but now I have something to focus on xx
The lady who posted about her daughter was posting because her insurance will now no longer cover Kalydeco as she doesn't have the G551D mutation. This means for her daughter to still have this drug, she needs to pay retail, which is $294,000 per year.