“Not all treasure is silver and gold, mate.” ~ Captain Jack
Sparrow
 |
| "X" Marks The Spot |
As an 80’s baby, I grew up with movies like “The Goonies”
and “Hook.” If you’ve ever seen either of those movies, then the word,
“pirates,” may have just come to mind. During my childhood, they were a
recurring theme at birthday parties, and even in cartoons. Whimsical children’s
stories about pirates oftentimes depicted them differently from one another –
sometimes they were good, and sometimes evil – but the one thing they all had
in common was their obsession with that big “X,” scrawled onto the tarnished
paper of an old treasure map. Their journey to unearth that mythical treasure was
usually dangerous, but the pirates believed the promise of reward was always worth
the risk, so they forged onward and dug until they struck gold.
Like many children, I embodied the spirit of curiosity when
I was younger – a curious, little pirate, as it were. While I was well aware,
from a very young age, that I had Cystic Fibrosis, I was determined to not let the
disease commandeer my ship. I recall sitting in the booth of a restaurant with my mom,
eagerly anticipating the arrival of our food. Normally, I would wait for her to
mix my pills (digestive enzymes) into my applesauce before eating a full meal.
At the ripe age of three, however, I was ready to take the helm. I grabbed
three of my enzyme capsules and swallowed them whole, much to my mom’s
surprise. This was a turning point in my life - I was determined to be more self-sufficient, ready to take on anything, and forge onward with the wind in my sails. I wanted to live as freely as any other kid
my age, with all of life’s adventures ahead of me, and the world at my
fingertips. In order to achieve this goal, however, I would need to arm myself
with the knowledge necessary to be hands-on in my own care. My mom was a fierce
ally in my endeavor, as was my pediatric pulmonologist, who was a brilliant
doctor. He always took the time to answer questions and ensure that my mom and
I were as educated as possible about the disease, and that’s no simple task
when dealing with a disease as complex as Cystic Fibrosis. Despite that, he firmly believed there would be a cure in my lifetime.
The symptoms and severity of Cystic Fibrosis can vary greatly depending on the combination of CF mutations one has, and there are hundreds of different mutations. I wanted to learn more about my Cystic Fibrosis mutations – to dig a little deeper. I was told by my doctors that I have a Delta-F508 mutation, which is rather common, as well as a W1282X mutation, which is surprisingly rare. The “X” in “W1282X” immediately grabbed my attention. “X marks the spot,” as they say. Would I one day be as fortunate as the sea-faring pirates from my childhood? Would scientists be able to find and unearth the defect in my cellular makeup? Would we be rewarded with a cure?
Ever since scientists first located the defective gene that
causes Cystic Fibrosis, it’s felt like we’ve had the map that leads to that
cure – the ultimate treasure trove. While it has yet to be found, other medical
discoveries have been made which help correct certain combinations of CF
mutations – medications like Kalydeco, Orkambi, and Symdeko are among these
great discoveries - all of which were funded by people who support the Cystic Fibrosis Foundation. Many CF patients are now reaping the benefits of these
medical breakthroughs, and I'm truly overjoyed for them! However, I'm currently shipwrecked on a smaller island with other CF patients who are still waiting for their CF mutations to be corrected, eagerly waiting to be saved. As you might suspect, it's been extra salty on this little island.
I was recently fortunate enough to participate in a clinical
trial that was a game changer for me. The trial was a double-blind study, so I
didn’t know if I had the real trial drug or a placebo. However, the feeling was
uncanny. After a week of treatment, I felt like Super Mario after
getting a hold of one of those blinking stars. My lung function increased, and
I had more energy than I knew what to do with. I never wanted that feeling to
leave. It reminded me of a time when I was just a teenager. Lying in bed one night, I took a deep, full breath of air, and told myself to remember what that felt like. I knew that someday, when the disease had progressed far enough, my lungs would forget the sensation. For a short time, however, I was able to unlock that magical feeling once more, thanks to the clinical trial.
Though the trial has since ended, more testing has to be
done before a treatment for my W1282X mutation comes to market. In the meantime,
the “X” has now been marked on my genetic map. "Not all treasure is silver and gold," as Captain Jack Sparrow famously said, and this quest has taught me that there is treasure in knowing that the disease has made me stronger, more patient, more compassionate, and more understanding. I do not take any breath for granted. Where there once was only ruin,
there is now hope for treasure.
