The One I've Been Waiting 23 Years to Write.

"Most of our lives are a series of images, they pass us by like towns

on a highway. But sometimes a moment stuns us as it happens

and we know that this instant is more than a fleeting image.

We know that this moment, every part of it, will live on forever."

Lucas Scott, One Tree Hill

Two weeks ago, I had one of those moments.

I was sitting at my desk, mind-numbingly editing a 64.1mb Adobe Illustrator file... Don't get me wrong, I absolutely LOVE my job, but this particular project required me to edit a very detailed map illustration of the entire Southeastern Virginia region. Remember those old Rand McNally road maps your parents kept in the car? You know, before Google Maps and iPhones? Yeah, that detailed from Gates County NC to Richmond, VA... every single street (most with street names...) state park, airport, school, military installment... Yeah, you get the point.

I was practically counting the minutes to 5:00pm because my vision was start to blur and because I was suppose to go to an afterwork event that included free food/alcohol (which is always a great idea). Just a few minutes to go and my phone began buzzing. When I looked down, I saw the all too familiar 953- prefix that is the Naval Medical Center Portsmouth. I'll admit, normally I screen these calls because it's always an appointment reminder, and I can't stand that automated robot women telling me what time I'm suppose to be at the hospital. But this call was different. This call I was expecting.

This call, this moment, was going to change my life.

In 1992, I was diagnosed with cystic fibrosis (CF), a genetic, life-shortening and progressive illness. There is no cure for CF and when I was born, the life expectancy was around 20 years old. Today, it has increased to 42. Which is good, but it's still a fatal disease. Traditionally, all the medications available to treat CF were considered maintenance or preventative therapies. This means that their purpose was to treat existing symptoms or complications caused by the disease, or to try and prevent further damage. But they didn't actually fix the problem.

In 2013, that started to change. A medication called Kalydeco became available for 3-4% of the CF population. This medication was revolutionary because it was the first medication in existence that actually corrected the cellular defect behind cystic fibrosis. In the most basic of explanations, all the problems associated with CF are due to the fact that the salt chloride channel along the cell membrane is broken. This causes a salt imbalance, which cause the mucus produced in the body to be too thick, which causes a plethora of problems, which cause even more problems because the body is basically just a giant game of dominos. As soon as one thing breaks, two more break behind it.

So Kalydeco? It opens the salt channel. Pretty awesome right? Unfortunately, only about 1000 people in the US were eligible for it. I plan to write another blog post soon to explain this in more detail, but let me briefly explain here. There are over 1800 different gene mutations of cystic fibrosis. They are organized into 6 different classes based on where in the DNA the mutation is located, and subsequently, what cellular defect it causes. Kalydeco was approved for a small set of mutations that only contained ONE cellular error; the channel in the cell membrane is closed. My CF mutation, DeltaF508, is the most common mutation and has TWO cellular errors; the salt channel is closed AND the protein that opens it does not move properly from the nucleus of the cell to the outer membrane. Approximately 50% of all patients have two copies of DeltaF508 (called double delta) and another 30% have at least one copy (single delta).

Kalydeco was created by a company called Vertex Pharmaceuticals and during the early stages, they tried using it on double delta patients, but it was unsuccessful. I mean, obviously, considering the medication only fixed one of the problems. So Vertex went back to work and started researching additional drug compounds to be used in combination with Kalydeco. Keeping in mind that drug development takes years, Vertex was already well into the process of creating the combo medication when Kalydeco actually reached the public in 2013. Clinical trials for the combo drug, Orkambi, started in 2014 and finished in March 2015. In May, it was submitted to the FDA. And on July 2, 2015, it was approved for use in the United States.

Let me rephrase that.... on July 2, 2015, for the first time in my life, there was a medication available that actually fixed the cellular defect inside every single cell of my body. The cellular defect that has led to 23 years of bi-monthly doctor appointments, 26 hospitalizations, 3 medical devices being permanently embedded into my body, literally countless medications and breathing treatments...

That alone was a moment that I will remember forever.

Fast forward two weeks and I began seeing posts on Facebook of friends with their boxes of Orkambi in hand. I was shocked by how quickly the manufacturers and insurance companies were working to make sure that 20,000 patients were able to get the medication they so desperately needed. I had a doctors appointment coming up and planned to discuss it with my medical team then.

At my appointment on July 22, I learned that while the FDA had approved this medicine, my insurance hadn't yet. I have insurance through the Tricare/DoD system and because Orkambi costs $259,000 a year, the DoD requires a drug review panel to meet and determine whether they would cover it. My doctor told me that he expected the panel to meet sometime in late August or early September and hopefully by mid fall, I would be able to start Orkambi. As much as I would loved to have it instantly, waiting another two months wasn't that bad. About a week later though, my other pulmonologist (my team has two doctors that work together) got in touch with me and said there was a change of plans; my Orkambi would be available within a week!! Basically, the pharmacy had extra reserve funds that they needed to spend before the fiscal year ends in September, and since only a dozen or so patients at my pharmacy could take Orkambi, they decided to buy as much as they could out of pocket, without the DoD's "approval." Kind of sneaky but hey, I'm not complaining. That was Thursday, July 30.

When my phone rang on August 5, I knew it wasn't an appointment reminder. I felt my stomach turn as I answered. With a tone that I can't quite explain, my doctor told me that Orkambi was in stock and I could pick it up as soon as I wanted. Her voice was one of pure excitement. To be honest, I wonder how that call must have been for her; a woman who has spent the last five years caring for me and has seen me at my absolute worst. As a medical professional, she is well aware of the downward trend my health has been on as I grew older. As a friend, she empathized about the inevitable outcome that I, and all her patients, would have battling this disease. But now, she got to deliver some of the best news ever. I imagine it was probably a pretty good moment on her end as well.

After that phone call, I couldn't even focus on my work. It was practically 5'o'clock anyway so I just closed up for the day and got ready for my networking event. On my way home that night, I planned to stop by the pharmacy to get my Orkambi. If I hadn't RSVP'd to the event, I would've gone straight there! But I didn't want to be rude, plus there was free drinks and I had a really, really good reason to celebrate.

On my way to the pharmacy, my phone died and I regretfully left my charger in a co-worker's car. So not only did I have to wait at the pharmacy without the ability to play SimCity, but I also wasn't able to answer my mom's text messages asking me when I would be home.

Obviously, as soon as I found out the medicine was here, I told my mom. You know how I wondered how my doctor must have felt knowing that my medicine was here because she's invested so much into me and my health? Yeah... that is NOTHING compared to how my mom must have felt when she heard the news. A mother's love is truly extraordinary and mine is no exception.

After I told her I was going to the pharmacy on my way home, my mom text back asking what time that would be but because my phone was off, I didn't reply. I guess the anticipation got the best of her and she was too excited to wait, because she decided that since I wasn't answering, she would just go the pharmacy. She had no idea what time I would be there but knew it had to be that evening, so she was just going to sit and wait for me. I walked in our front door about 30 seconds before she was ready to leave (Thankfully since that would've been an awkwardly long wait for her!). My mom gave me a huge hug, and as soon as she did, started crying what I can only imagine were some of the most excited tears of relief one could have. Within seconds, I was crying too.

The moment the FDA approved Orkambi, the moment I got that phone call, the moment I first held that box of medications, the moment I embraced my mom when I got home, the moment I swallowed those two little pink pills.... nothing about August 5th will ever be a fleeting image in my mind. It will be a day that burns in my memory forever because it was the day I've been waiting for my entire life.

I already said some of this on Facebook, but I'll say it again here.

"I don't remember exactly when I realized just what the words "incurable, life shortening or progressive" meant, but I do know that every day since, I lived with an unavoidable, paralyzingly fear of the future. I came to terms with a certain level of hopelessness, because nothing would ever change. I learned not to dream about college or working, not to expect to get married or have kids. I wasn't a pessimist, anyone who knows me knows I am the farthest thing from it. I was just being realistic. And my reality was that I was sick, was always going to be sick and was going to get sicker.

Today, that changed... holding this box gives me hope unlike anything I have ever felt before. Genuine, tangible, overwhelming hope for a bright, long, and healthy future.

I know that these pills are not a cure-all. I'm still going to work hard to take care of myself because my body has taken quite a toll and this medication can't replace what's already been lost. But it will be a new, powerful resource for me to continue fighting. It will open up possibilities that I never had before and it will change my life for the better."

The last part is absolutely true. As happy as I am that this new, life-changing medication is available... I still have cystic fibrosis. I still have 40-ish% lung function. I still have diabetes and need enzyme replacement with every meal. This medication doesn't change the past and it doesn't cure my disease. This medicine isn't going to make me feel bulletproof but it will make me feel better. It is estimated that Orkambi allows for about 30% functioning salt chloride channels and you need 50% to be "normal" or symptom-free. So yes, this is fantastic but it's not perfect. It's not a cure, but it is going to make my quality of life better and hopefully, slow down or even stop the progression of my CF.


This post is getting pretty long (kudos to whoever has stuck around this long and read it!) so I'm not going to get into how things have been since starting Orkambi. I'll write a follow up in the next few days, and obviously as I move forward with this medication and with my life, I'm going to write about my experience and the possibilities that Orkambi gives me. But for now, I wanted to share a little background and about the day that changed my life forever.

Yes, that's a pineapple martini because anything less seemed like an insult to the moment. So cheers. Cheers to modern medicine. Cheers to my doctors finding loopholes for me to get my medicine early. Cheers to having a mother that loves me so much she couldn't even wait for me to get home. Cheers to new possibilities, new opportunities and a new found hopee.

Cheers to the rest of my life.