My CF Outlook On Life With Modulators

In January 1990, my parents sat staring anxiously at the person with a Ph.D. who was breaking the news; your beautiful baby girl has a genetic condition, it's called cystic fibrosis.

Treatment options were limited back then, but Mr. Ph.D. tried to give the gravest of news in the utmost positive light. Beneath the hope and enthusiasm, it remained that they feared I would not outlive my fragile childhood.

I sit here today, having just celebrated my thirty-second birthday. My chest is relatively healthy thanks to a new generation of modulator medications taking hold globally which target the cystic fibrosis transmembrane conductance regulator (CFTR).

This is big news for CF treatment!

It is massive. And, it changes the face of CF indefinitely. It gives the worldwide cyster and fibro community a chance to have a life we have always wished for. Before this pivotal moment, every birthday, every candle on the cake was laced with silent pleas for a life unlimited.

So, how did it all unfold?

Something else took place the year before I was diagnosed--the CF gene was identified. This was our first dazzling glimmer of hope into finding a cure. If we knew where this one tiny defect originated from then we were one step closer to fixing it--or so that is what we thought.

But medical science is complex, couple that with a rapidly decaying body--mostly lungs--and hey presto, you have quite a task on your hands.

Growing up, there were talks of a cure within 5 years. At first, it felt promising but those aspirations began to wear thin when I was spending weeks away from school to be in the hospital facing endless cannulas and treatment.

At this point, my perspective of CF felt at its bleakest. I was highly needle-phobic, held zero tolerance for treatment, and was confused about what was happening to my unstable little lungs.

The progress scale

The first real significant medical breakthrough came with Dornase Alfa – the clue is in the title. This magical clear potion breaks down the DNA bonding within the super sticky mucus lining my lungs. It was the first new treatment that tackled CF symptoms on a genetic level, so it felt huge on the making progress scale.

From then on scientific breakthroughs plateaued in terms of finding that 5-year cure. Five years became ten, ten became fifteen, and so on. My treatment load increased by the hour, my infections were damaging, my lung function was rapidly declining, and my endurance was waning.

Changing my perspective

Another noteworthy moment was when I sought help for my psychological relationship with CF. I was able to mentally untangle all the feelings I had around treatment and why I could not just get on with it.

Turns out, at this point, I felt all the available treatments were pointless as no matter how many medicinal antibiotic potions I pumped into my collapsed, purple veins, they were not curative. That was the problem for me. We could only treat the symptoms, but not the underlying disease.

Perseverance prevailed until I nailed those thoughts into the ground, which changed my perspective to the short-term gains rather than the long-term. This was, quite frankly, because it is debilitating to focus so much energy on what CF treatments were not remedying.

The breakthrough in new CF treatment

Then Vertex happened. A drug company that took a big leap of faith - investing into developing novel treatments for cystic fibrosis and it paid off. Big time.

These drugs, those CFTR modulators I mentioned before, did not just treat CF symptoms. They built a new genetic gateway like a genome robot turning me into a superhuman with a snazzy set of hybrid lungs.

Correcting that one tiny defect

Without the fancy pills, I have wheezing, phlegm filled lungs but, with the fancy pills, I have a normal functioning set of puffers. Just like a switch. It is hard to believe we have finally reached a point where we can correct that one tiny defect.

I genuinely never thought I would see such a breakthrough in new CF treatment in my lifetime. Average life expectancy will be a thing of the past.

This is by no means the cure, but it is the closest thing we have. It will leave a legacy of CF warriors who finally made it to a life unlimited.

This is what we have been striving for over three entire decades and, in 2020, we reached it. No more worries about lung transplant chats looming in the shadows. My lifelong birthday wishes were finally granted.