My name is Ashton Fairchild Ferguson and I am a 23-year-old UCSD graduate. I have been a Cystic Fibrosis (CF) patient from birth and I was diagnosed with a single large mitochondrial deletion and depletion disease when I was in my late teens. Cystic Fibrosis is a genetic disease that affects the lungs and just about every organ in your body. I have liver disease, diabetes, infertility, high blood pressure, digestive issues, and congested lungs just because of CF.

I am writing this as a patient in my early twenties who has a mitochondrial disorder. Hopefully, this project will instill some insight and hope for those who are new to this side of the medical world. Despite my double diagnosis, I am mostly a success story and I want to show that these diseases don’t have to be the end of life as they know it. Here, I would like to record what life was like before I even knew I had a mitochondrial deletion disease, starting from birth into my mid-teens.

I was born prematurely because there was something very wrong going on in my gut, so my mom endured a C-section and I was cut open at the stomach to reveal my intestines in a knot. From that, I have a scar that reaches across my belly to this day. They figured out I had CF by doing a genetic blood test. My time after birth was horrid according to my parents and they were even more worried because the life expectancy of a CF patient at the time of 2001 was in the late twenties. My parents knew nothing about CF except my mom had a teacher in high school who would breathe from an oxygen tank during breaks and died of CF not long after she graduated. So yeah, not very good prospects. CF patients burn more calories than most people do so when I was a baby, I was given a G-tube and I was exclusively fed through that rather than my mouth. A G-tube is a small device the length of a thumb that is put in a hole in my abdomen that was surgically created. This device can connect to a tube that can feed it water or other forms of nutrients and it will go straight to my belly. Yes, this sounds gross, and it is, but I’ve had this all my life and the only maintenance that needs to be done for it is to change it out every six months or so. Changing it out is simple. There is a water balloon in the G-tube that keeps it secure in my belly so by sucking that water out, it can easily be pulled out with some lubricant and replaced with a new one. The only time I’ve had a mishap with a G-tube was in grade school when I fell while playing soccer and it fell out. The problem is that if there isn’t a new one inserted soon enough, the hole in my belly will close up. So my mom raced over to my school and put a new one in right on time. It’s safe to say that I don’t recommend contact sports if you are using a G-tube. Using the G-tube had unforeseen effects on me where I actually grew up with practically no appetite so I didn’t enjoy eating nor did I feel hunger. Things have changed now, but we’ll get to that.

As a child, I was given tons of treatments to do to keep me as healthy as possible. The amount of pills I’ve had to take has only increased over the years, fifty being my current daily dose. This was mostly because we didn’t know everything that was wrong with my body from the beginning so new medication was added often. The most prominent treatment for CF is a vibrating vest that shakes the mucus out of my lungs so I can cough it out. When I first tried this out as a child, my lips turned blue from fear of the shaking. It took me a while to get used to this. Now, I just play video games or do homework during them for thirty minutes twice a day as if it’s no big deal.

Despite all of the treatments I did at a young age, I was still very sick. I distinctly remember walking around school with an IV pole during first grade. I was never treated differently because of this, but it was the first time in my life that I felt I was very different from everyone else. I don’t remember being sick as a kid. Maybe I blocked it out, but I do remember what my parents finally did about it. They took me to the CF clinic at the University of Minnesota in Minneapolis (I lived in Kansas at the time) and the people there gave me different treatments to do. Since that appointment, I have become much healthier. My parents call it the Minneapolis protocol.

My problems didn’t end there. As a ten-year-old, my CF didn’t progress much. However, there was still the looming threat of my low life expectancy, so my parents turned me into a mascot for the Cystic Fibrosis Foundation ever since I was a baby. I gave little speeches and went on fundraising walks quite often as a child, but I hadn’t yet grasped how important this was. Later in my early teens, a pharmaceutical company called Vertex asked me to cut the ribbon on their new facility that promised to produce new drugs for the CF patient population.

My mom was ecstatic about this, but I just saw this as another thing to be dragged into – until I saw the building. The place is shaped like lungs from a bird’s eye view and there are indoor chandeliers that look like the CF genome. I remember the huge crowd of people taking pictures and how happy my mom was.  It made me think, “OK, there’s something I don’t know here.” It turns out the lead scientist behind all of this, Paul Negulescu, has known my mom since I was a baby. Back then, he promised to take a big step toward an eventual cure one day. Well, this building was it. Just a few years later, Vertex released drugs in pill form that got me to cough out gray matter that had been sitting in my lungs for all my life and the drugs only got better from there. Their most recent drug, Trikafta, was released in 2019. It’s the only drug I can genuinely call a miracle drug. It is effective for 90% of the CF population. It doubled people’s lung function, stabilized their organs, and even allowed patients to have children. This is exactly what I spent my early life fundraising for, I just didn’t know it. Trikafta has a positive effect on me but not nearly as much as it has on others. I still have to do all of my treatments, I have weight gain and blood pressure issues, and I am still infertile. Nowadays, the Cystic Fibrosis Foundation (CFF) is a billion-dollar organization so I felt they didn’t really need my help anymore. Even so, I was famous enough to be on news channels and I even met someone on a dating app who recognized me and knew my story.

Unfortunately, she had CF too so we couldn’t go any further. There’s a weird bacterial reaction between CF patients where they must not stay near each other or they risk getting really sick. The bacteria that are exhaled from a CF patient’s lungs are dangerous for other patients to breathe in. I don’t know much about the subject since I have never caught anything from another CF patient. I also haven’t been able to meet other people with my disease in person. For a long time, this felt like a normal fact of life that didn’t bother me. That is until very recently when the woman with CF I mentioned earlier reached out to me on a dating app since she recognized my name. It sucked knowing there was no chance for us to date unless we wanted to risk getting really sick. Overall, because of this strange bacterial thing, CF patients can’t get to know each other in person, and trying to do it remotely just doesn’t seem right. By the time Vertex started making these drugs, the average life expectancy had risen yet people are still dying from CF complications.

COMING NEXT WEEK … let’s go back to my pre-teens and talk about food — and my mito diagnosis.