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.

Because of my feeding tube as a baby, I’ve had an eating disorder. I genuinely hated eating food. I remember having my hunger tested by doctors and I didn’t eat for a week. I actually felt uncomfortable just sitting there at the dinner table with my family so I’d ask for a graham cracker just to fit in. This was until my parents took me to a facility in Florida that trained people how to eat. I remember being given a lot of pop tarts and I thought they tasted way too strong. I don’t remember much of what went on in there but that place did its job. I was still a flawed eater, but I could at least eat all of the traditional meals of the day. It just took me a very long time to chew and swallow. I didn’t know at the time that mitochondrial disease was likely a culprit in preventing me from eating efficiently and having an appetite.

Ironically, in my teens, I became obsessed with fine dining, partly because of one of the annual events that the CFF organized called the CF Chef Throwdown where some of the best gourmet chefs in San Diego had their dishes judged by judges and guests. There, I met a man named Rob Ruiz who served me sea urchin and was very excited for me to have it. Embarrassingly, I took a bite and I gagged because I was still inexperienced with chewing soft food, but it genuinely was the best dish I had at the event and I made sure to tell him that. Other guests at the event agreed with me and Chef Rob won the big award for the best dish at the event.

After the event, Rob invited me to tour his restaurant, The Land and Water Company, and I got to see what being a real chef entailed. I fantasized about being a cook but this tour made me decide it wasn’t for me. The kitchen was scorchingly hot, you work almost all day on your feet, every day, and there is constant pressure to get things right. In a way, I’m grateful to him for showing me that I simply wasn’t cut out to be a chef. It allowed me to focus on other things and it didn’t stop me from liking nice food. Even so, eating was still a chore. I took longer to eat my meals than anyone else I know and for some reason, I still only chew with the left side of my mouth.

I was still a picky eater in my late teens, but that part of me shattered when I was offered a Make-A-Wish. I remember visiting the Make-A-Wish offices and seeing a wall of wishes that were made by kids who were much younger than me who mostly chose to go to Disneyland or Legoland. I felt terrible for them since I’ve been to both parks and I know I wouldn’t want my dying wish to go to these places, so I decided to dream huge. I wanted to eat at the world’s best restaurant called Osteria Francescana in Modena, Italy. If I was going to die, I’d die having eaten the best food in the world. So we packed a ton of medicine and medical equipment that somehow got through customs and endured Italy’s heat to experience churches, Ferrari museums, traditional Italian food, and we even learned how to make homemade spaghetti from an Italian grandmother in her very old Italian home. Osteria Francescana had an incredibly humble entrance in a random alley. You’d never guess it was a three-Michelin-star restaurant. My mom, stepdad, sister, and I had a 12-course meal that lasted four hours. I still remember what it tasted like. There was a lemon tart that a waiter dropped in the past and instead of throwing it away, the chef, Massimo Bottura, thought it looked cool. The dessert was named “Oops I Dropped The Lemon Tart”. There’s another dish called “Cheese Five Ways” which is cheese in 5 different forms of matter. One of the cheeses felt like I was eating cheese foam soap. My favorite dish, which I can still taste to this day, looked like a granola bar on a popsicle stick and I never found out what it really was since everything was in Italian on the menu. Chef Massimo was a super nice guy who was clearly giddy for food. He looked to be in his late fifties, but he had more energy than I did. He came out to chat with us toward the end of our meal and made me feel so special. If you want to learn more about him, the first episode of Chef’s Table is about him on Netflix. To this day, I still have nightly tube feedings to keep my weight up but I appreciate good food now. 

My 18-year-old sister, Lola, who also has CF, is still quite picky with food but I’d like to talk more about her. One of the first memories I have of her was me trying to feed her applesauce as a baby and I puked since I hated apple sauce. I didn’t even like to be around food when I was young. She looked up to me as a child. Remember how I said I was deathly afraid of the vest that shook my lungs when I first started it? Lola watched me do it every day and she was super excited to try it out herself. We’ve always had a great relationship. Unlike me, she is much healthier than I am – largely because Mom and Dad were prepared for her to have CF and she does not have a mitochondrial disease. 

This is a good time to talk about how my family changed in my early teens. My parents got divorced when I was 12 and I didn’t understand why at the time, but it was interesting to see my mom meeting other men than my dad and I got to meet these other men’s children. She wasn’t successful for a while since she is so picky but my dad was. He met a woman named Susan who had a one-year-old child, two cats, and a Playstation 3. So it was basically a dream home for a kid my age. Susan is a lawyer and she and Dad lived together as if they were married for eight years until they finally sealed the deal. It was surreal to watch my parents who were already married in my eyes saying their vows at the podium. It was very nice to be a part of an event like this but this changed absolutely nothing in the household. My mom eventually met a man named Dave, who had kids my age, but they were older and left for college shortly after I met them. My bonus dad, Dave, is super accomplished professionally, but also incredibly goofy. He’s very into athletics, which is perfect for my mom since she loves hiking and biking. They too got married – after what I thought was way too long, even though they already behaved like a married couple. This too, was a very cherished time. Because of my mito disease, my eyelids are not strong enough to blink all the way, giving me dry eyes. Before I joined my Mom and stepdad for their vows, I had taken eye drops but the vows got me emotional so I teared up a bit. My mom noticed this and asked if I was crying, but I said it was just my eye drops – which was technically true. 

My mom and dad worked incredibly hard to make this divorce feel as normal as possible, to the point where I prefer this over them being together. My dad spoils me a ton and my mom makes me work hard. It’s a nice balance. 

The last big thing with CF that has to do with food was my progressing diabetes. We didn’t know I was diabetic until I was almost in high school. I remember feeling like garbage every time I did a mile run for my class in middle school which was most likely because my blood sugar plummeted during exercise. When we finally found out I had diabetes, I was given a tubed insulin pump called the Tandem T-Slim X2. I now use a new and improved pump called the Tandem Mobi. I had to know how much carbs and fat were in every meal I had so I could give myself the right amount of insulin. It had a good enough algorithm to keep my blood sugar stable but I always needed to bring a juice box with me during exercise. It also had a painful way of inserting the port that my insulin goes in every three days, but they are working on that. 

Nowadays, diabetes is easily the biggest chore in my day, but we’re talking about my past here. So when did I actually find out I had a mitochondrial deletion disease? Well, ever since middle school, I was more tired than usual. My mom brought this up with every doctor, only for them to say it was probably because of CF. Finally after my early signs of diabetes and a low thyroid hormone test, I was sent to my first endocrinology appointment. The first thing this new doctor said to me was, “Did you know you have ptosis?” My mom and I had no idea what that meant.  Ptosis is when the upper eyelids droop making me look tired all the time. When I told the doctor that I really was tired all the time, he referred me to see an ophthalmologist which my mom thought was crazy.  How could something else be wrong with me? We hadn’t noticed the eye droop since it happened so slowly over several years. 

We were seen by the ophthalmologist who agreed that something was not right and they referred us to a neuro-ophthalmologist. I didn’t understand anything that was going on. We kept getting sent to new doctors. The next one was a neurologist which led to a neuromuscular specialist which led to another test called an EMG which stands for Electromyography. Basically, a bunch of needles attached to a machine gave my muscles a little electric shock which somehow measured the strength of my muscles. I failed the test so they wanted to do a muscle biopsy to test for mitochondrial disease. Again, my mom thought that was crazy but was glad that at least we may get answers to some of my problems outside of Cystic Fibrosis. While we waited for the biopsy to get set up, I was seeing a new ophthalmologist who felt I would benefit from a silicone sling eye lift so that my eyelids would be out of my line of sight all the time. We didn’t have a diagnosis yet, but we opted to have an eyelid lift surgery to help me see better. That’s when disaster struck. Ironically, my eye surgeon had not been informed that my eyes could not roll into the back of my head, so while I was unconscious, my eyes were exposed for hours and the ophthalmologist didn’t know I was being tested for mitochondrial disease. When I woke up from the procedure (where I also had an endoscopy to check my liver disease), I felt the worst pain in my life in my eyeballs. Numbing medicine couldn’t help. I was also practically blind. My mom had to rush me to the ER at midnight on the day of the surgery because I was in so much pain. 

After some sedating pain medication and further tests in the ER, I learned that I had corneal defects in both of my eyes, basically Thanos snapping them from my eyes (it genuinely looked like that to my mom). Imagine scraping off the delicate protective layer from the top of your eyeballs. Imagine sand in your eyes all the time that you can’t rinse out. It was really that awful. So I spent the summer after my first year of high school with cardboard over my windows in a pitch-black room hoping to heal. I listened to a lot of music and audio descriptions of movies, and friends came to talk to me in my dark room. It was my summer of hell. We had to tape my eyes closed every night (and sometimes several times a night) after putting thick gel into my eyes to keep them moist. I wore hard contacts which were very uncomfortable. I went to at least 25 ophthalmology appointments that summer. After about 4-5 months, I managed to get my vision back, albeit blurry. As time went on, I gradually regained my full vision but I still have issues. I have scars over my corneas that make contrasting things like black letters on a white background have a ghosting image. This has improved greatly thanks to advice from other mito patients. This disaster was the wake-up call that something else was wrong with me. I was finally diagnosed after years of my mom nagging doctors about it. It took that kind of injury to get any results. 

When the results of the muscle biopsy came back, I was diagnosed with mitochondrial myopathy by Dr. Laverty at UCSD, who was very kind and gentle. She oversaw my disease’s development for a few years too. At the beginning, the doctors thought I had Kearns Sayre Syndrome which has a host of symptoms but I never developed the most fatal one, heart block, so now the doctors say I have a SLMDS–Single Large Mitochondrial Deletion Syndrome. I don’t have enough DNA in my mitochondria and I don’t make enough mitochondria. Mitochondria play a very important role in energy production in all of your body’s cells. You may remember from 5th grade science that the mitochondria are the “powerhouse of the cell” which gives you energy for your body to function. Certain organs are very rich in mitochondria such as the heart, eyes, liver, and muscles. Imagine that your body is running on a car battery but then imagine only having a D battery. You just don’t have the energy to do everyday things. Further genetic testing and clinical symptoms showed that I had a mitochondrial disorder called CPEO+, Chronic Progressive External Ophthalmoplegia. Symptoms of CPEO+ include ataxia, dementia, sensorineural hearing loss, migraines, hypothyroidism, neuropsychiatric manifestations, and optic neuropathy. drooping eyelids (ptosis), paralysis of the muscles that control eye movement, impaired swallowing, and weakness of the limbs. The eye control issue got worse pretty quickly. I now cannot move my eyeballs to the side so I have to turn my head to see to the side. That test that doctors do at regular checkups where you follow their finger is something I fail miserably. During this time, I was repeatedly seen by Dr. Haas at UCSD, who is known as the expert in mitochondrial disease. During our visits, he had me do a lot of walking and dexterity tests, and he recommended a cocktail of medications that I still use to this day. He also referred me to a lot of different studies while conducting a few of his own. Dr. Haas has been very helpful and he works incredibly hard but he is finally giving in to retirement soon. His apprentice, who has trained under him for years, is taking over. I haven’t had an appointment with her yet but I look forward to hearing her ideas about my situation. 

So yeah, my intro to mito disease stunk big time. The only positive thing is that the symptoms have progressed so slowly since the diagnosis that I still appear a normal person, which is in stark contrast to the patients I’ve seen who can hardly walk, talk, or even think properly. Unless you see my eyes moving around strangely, you may not even know I have a mitochondrial disease. I still have daily symptoms, the biggest being my eye muscle myopathy. When I start my day, both of my eyes can focus on something just fine but as the day goes on, they grow weaker to the point where my right eye drifts off, my brain blocks it out, and I see exclusively through my left eye. It works fine, honestly. But I do wish that wouldn’t happen. It is interesting how my body has adjusted to this new normal. It would probably freak other people out if they suddenly have this problem but I am used to it now. 

A few of the issues I deal with due to mito disease are fatigue, challenges with exercise, and dry eyes. After my eye lift surgery, I learned that my lids were lifted just a few millimeters too much. Add that to the fact that the muscles used to close your eyes all the way are weak and the result is that my eyes are really dry and I am at risk of corneal defects again if I sleep without my eyes sealed closed. I use a very pricey eye drop 4 times a day, tear-inducing eye drops twice a day and I have tear duct plugs in both eyes. The plugs prevent my tears from coming out so my eyes retain more moisture. Another weird problem is that since my eyelids don’t close all of the way, the little glands around my eyes build up oil that would normally be secreted with every blink doesn’t get released, so every day I put a warm compress over my eyes for ten minutes. I then rub those oils out of my eyes for an hour while I watch a show or movie. It’s kind of the price I pay for doing that eyelid lift surgery. If I hadn’t done it, my eyelids would be way lower and I could probably blink fully, but I also like being able to see without my eyelids getting in the way of my vision. I also undergo a minor therapy every six months where a machine heats up my eyelids. When my doctor looks at the results by pinching my eyelids, strings of that gel come spewing out. It’s one of the few images that even I hesitate to look at. Just about any image of something being done to my eyes is hard for me to look at, likely because of the trauma I had from the botched eyelid lift procedure. Then for years, I would put lubricating gel in my eyes and then tape special silicone goggles to my face so they wouldn’t fall off in the middle of the night. It looks really silly but I am too nervous to take any risks with my eyeballs again. Despite all of this, I definitely have it better than a lot of other patients, but it’s still quite the chore on top of CF. 

Because I don’t have much energy to spare, sleep is a big deal to me. If I have poor sleep, I will feel weak and crappy throughout the entire day. I try to get at least 10 hours of sleep a night. I worry about how I will be able to work full-time because when I get run down, my body goes haywire. My blood sugars do crazy things, I get sick easily, and it can take days to recover. I also can’t exercise as hard as anyone else can. I mostly just go on thirty-minute brisk walks every day and even that gets me winded. I have gotten into weight lifting but I found out it is very difficult for me to grow, let alone keep, muscle.

I only recently learned how dire mito disease can really be when I went to the United Mitochondrial Disease Foundation’s  Mitochondrial Medicine conference in 2023. I saw people who struggled to walk, talk, open their eyes, or even think properly. For the first and only time in my life, I was the healthiest patient in the entire building. I honestly can’t say it felt good. A friend I made at this event was a 16-year-old girl who often had her eyelids mostly shut, had some slurred speech, and had trouble walking. I could also tell that she had these episodes where she’d be exhausted for a little while. She would need to take naps in the middle of the day. Despite all of this, we had a lot of fun together. I remember she was really nervous about an eyelid lift surgery she would soon have and despite the catastrophic results I had, I tried to comfort her and her parents about it since it helped me in the end. I also made sure to tell them to yell at her surgeon to lubricate her eyes right before the procedure, preventing her from experiencing what I did. Unfortunately, her condition has gotten worse since we last met – but that is exactly what these conferences are for. 

I went to this conference with my mom so we could learn more about the research that was being done and we came across a few promising studies that got her all excited. I know she is my mom and cares deeply for me, but I personally didn’t think this research targeted me. I could see how much worse other patients were than I was and I knew they needed this help far sooner than I did. So these promising studies mostly made me feel good for them, even if they could positively affect me too. Lastly, I participated in a brief study where we had a timed dexterity test that made us put sticks in holes as fast as possible, along with a six-minute walk test. 

One of the best things I got out of this event was coming into contact with patients who were far more experienced than I was with mitochondrial disease. One of them was Sharon Shaw who had a very similar condition to me but she was much older. Her best piece of advice was her method of covering up her eyes before she sleeps. She puts gel in both eyes, cleans her face with a wet wipe, and puts a special tape on that keeps the eyes closed and moist. I’ve been doing this ever since she told me about it and it actually helped heal my corneal scars. She also mentioned a drug trial she was a part of where frequent injections helped her retain a lot of energy. The catch is these injections cause the skin to scar easily and I already have enough of that with my insulin pump. It is still nice to see that there are big steps being taken for treatments for this relatively rare disease but there have also been companies that had high hopes for a promising treatment that turned out to not work at all.

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.

Because of my feeding tube as a baby, I’ve had an eating disorder. I genuinely hated eating food. I remember having my hunger tested by doctors and I didn’t eat for a week. I actually felt uncomfortable just sitting there at the dinner table with my family so I’d ask for a graham cracker just to fit in. This was until my parents took me to a facility in Florida that trained people how to eat. I remember being given a lot of pop tarts and I thought they tasted way too strong. I don’t remember much of what went on in there but that place did its job. I was still a flawed eater, but I could at least eat all of the traditional meals of the day. It just took me a very long time to chew and swallow. I didn’t know at the time that mitochondrial disease was likely a culprit in preventing me from eating efficiently and having an appetite.

Ironically, in my teens, I became obsessed with fine dining, partly because of one of the annual events that the CFF organized called the CF Chef Throwdown where some of the best gourmet chefs in San Diego had their dishes judged by judges and guests. There, I met a man named Rob Ruiz who served me sea urchin and was very excited for me to have it. Embarrassingly, I took a bite and I gagged because I was still inexperienced with chewing soft food, but it genuinely was the best dish I had at the event and I made sure to tell him that. Other guests at the event agreed with me and Chef Rob won the big award for the best dish at the event.

After the event, Rob invited me to tour his restaurant, The Land and Water Company, and I got to see what being a real chef entailed. I fantasized about being a cook but this tour made me decide it wasn’t for me. The kitchen was scorchingly hot, you work almost all day on your feet, every day, and there is constant pressure to get things right. In a way, I’m grateful to him for showing me that I simply wasn’t cut out to be a chef. It allowed me to focus on other things and it didn’t stop me from liking nice food. Even so, eating was still a chore. I took longer to eat my meals than anyone else I know and for some reason, I still only chew with the left side of my mouth.

I was still a picky eater in my late teens, but that part of me shattered when I was offered a Make-A-Wish. I remember visiting the Make-A-Wish offices and seeing a wall of wishes that were made by kids who were much younger than me who mostly chose to go to Disneyland or Legoland. I felt terrible for them since I’ve been to both parks and I know I wouldn’t want my dying wish to go to these places, so I decided to dream huge. I wanted to eat at the world’s best restaurant called Osteria Francescana in Modena, Italy. If I was going to die, I’d die having eaten the best food in the world. So we packed a ton of medicine and medical equipment that somehow got through customs and endured Italy’s heat to experience churches, Ferrari museums, traditional Italian food, and we even learned how to make homemade spaghetti from an Italian grandmother in her very old Italian home. Osteria Francescana had an incredibly humble entrance in a random alley. You’d never guess it was a three-Michelin-star restaurant. My mom, stepdad, sister, and I had a 12-course meal that lasted four hours. I still remember what it tasted like. There was a lemon tart that a waiter dropped in the past and instead of throwing it away, the chef, Massimo Bottura, thought it looked cool. The dessert was named “Oops I Dropped The Lemon Tart”. There’s another dish called “Cheese Five Ways” which is cheese in 5 different forms of matter. One of the cheeses felt like I was eating cheese foam soap. My favorite dish, which I can still taste to this day, looked like a granola bar on a popsicle stick and I never found out what it really was since everything was in Italian on the menu. Chef Massimo was a super nice guy who was clearly giddy for food. He looked to be in his late fifties, but he had more energy than I did. He came out to chat with us toward the end of our meal and made me feel so special. If you want to learn more about him, the first episode of Chef’s Table is about him on Netflix. To this day, I still have nightly tube feedings to keep my weight up but I appreciate good food now. 

My 18-year-old sister, Lola, who also has CF, is still quite picky with food but I’d like to talk more about her. One of the first memories I have of her was me trying to feed her applesauce as a baby and I puked since I hated apple sauce. I didn’t even like to be around food when I was young. She looked up to me as a child. Remember how I said I was deathly afraid of the vest that shook my lungs when I first started it? Lola watched me do it every day and she was super excited to try it out herself. We’ve always had a great relationship. Unlike me, she is much healthier than I am – largely because Mom and Dad were prepared for her to have CF and she does not have a mitochondrial disease. 

This is a good time to talk about how my family changed in my early teens. My parents got divorced when I was 12 and I didn’t understand why at the time, but it was interesting to see my mom meeting other men than my dad and I got to meet these other men’s children. She wasn’t successful for a while since she is so picky but my dad was. He met a woman named Susan who had a one-year-old child, two cats, and a Playstation 3. So it was basically a dream home for a kid my age. Susan is a lawyer and she and Dad lived together as if they were married for eight years until they finally sealed the deal. It was surreal to watch my parents who were already married in my eyes saying their vows at the podium. It was very nice to be a part of an event like this but this changed absolutely nothing in the household. My mom eventually met a man named Dave, who had kids my age, but they were older and left for college shortly after I met them. My bonus dad, Dave, is super accomplished professionally, but also incredibly goofy. He’s very into athletics, which is perfect for my mom since she loves hiking and biking. They too got married – after what I thought was way too long, even though they already behaved like a married couple. This too, was a very cherished time. Because of my mito disease, my eyelids are not strong enough to blink all the way, giving me dry eyes. Before I joined my Mom and stepdad for their vows, I had taken eye drops but the vows got me emotional so I teared up a bit. My mom noticed this and asked if I was crying, but I said it was just my eye drops – which was technically true. 

My mom and dad worked incredibly hard to make this divorce feel as normal as possible, to the point where I prefer this over them being together. My dad spoils me a ton and my mom makes me work hard. It’s a nice balance. 

The last big thing with CF that has to do with food was my progressing diabetes. We didn’t know I was diabetic until I was almost in high school. I remember feeling like garbage every time I did a mile run for my class in middle school which was most likely because my blood sugar plummeted during exercise. When we finally found out I had diabetes, I was given a tubed insulin pump called the Tandem T-Slim X2. I now use a new and improved pump called the Tandem Mobi. I had to know how much carbs and fat were in every meal I had so I could give myself the right amount of insulin. It had a good enough algorithm to keep my blood sugar stable but I always needed to bring a juice box with me during exercise. It also had a painful way of inserting the port that my insulin goes in every three days, but they are working on that. 

Nowadays, diabetes is easily the biggest chore in my day, but we’re talking about my past here. So when did I actually find out I had a mitochondrial deletion disease? Well, ever since middle school, I was more tired than usual. My mom brought this up with every doctor, only for them to say it was probably because of CF. Finally after my early signs of diabetes and a low thyroid hormone test, I was sent to my first endocrinology appointment. The first thing this new doctor said to me was, “Did you know you have ptosis?” My mom and I had no idea what that meant.  Ptosis is when the upper eyelids droop making me look tired all the time. When I told the doctor that I really was tired all the time, he referred me to see an ophthalmologist which my mom thought was crazy.  How could something else be wrong with me? We hadn’t noticed the eye droop since it happened so slowly over several years. 

We were seen by the ophthalmologist who agreed that something was not right and they referred us to a neuro-ophthalmologist. I didn’t understand anything that was going on. We kept getting sent to new doctors. The next one was a neurologist which led to a neuromuscular specialist which led to another test called an EMG which stands for Electromyography. Basically, a bunch of needles attached to a machine gave my muscles a little electric shock which somehow measured the strength of my muscles. I failed the test so they wanted to do a muscle biopsy to test for mitochondrial disease. Again, my mom thought that was crazy but was glad that at least we may get answers to some of my problems outside of Cystic Fibrosis. While we waited for the biopsy to get set up, I was seeing a new ophthalmologist who felt I would benefit from a silicone sling eye lift so that my eyelids would be out of my line of sight all the time. We didn’t have a diagnosis yet, but we opted to have an eyelid lift surgery to help me see better. That’s when disaster struck. Ironically, my eye surgeon had not been informed that my eyes could not roll into the back of my head, so while I was unconscious, my eyes were exposed for hours and the ophthalmologist didn’t know I was being tested for mitochondrial disease. When I woke up from the procedure (where I also had an endoscopy to check my liver disease), I felt the worst pain in my life in my eyeballs. Numbing medicine couldn’t help. I was also practically blind. My mom had to rush me to the ER at midnight on the day of the surgery because I was in so much pain. 

After some sedating pain medication and further tests in the ER, I learned that I had corneal defects in both of my eyes, basically Thanos snapping them from my eyes (it genuinely looked like that to my mom). Imagine scraping off the delicate protective layer from the top of your eyeballs. Imagine sand in your eyes all the time that you can’t rinse out. It was really that awful. So I spent the summer after my first year of high school with cardboard over my windows in a pitch-black room hoping to heal. I listened to a lot of music and audio descriptions of movies, and friends came to talk to me in my dark room. It was my summer of hell. We had to tape my eyes closed every night (and sometimes several times a night) after putting thick gel into my eyes to keep them moist. I wore hard contacts which were very uncomfortable. I went to at least 25 ophthalmology appointments that summer. After about 4-5 months, I managed to get my vision back, albeit blurry. As time went on, I gradually regained my full vision but I still have issues. I have scars over my corneas that make contrasting things like black letters on a white background have a ghosting image. This has improved greatly thanks to advice from other mito patients. This disaster was the wake-up call that something else was wrong with me. I was finally diagnosed after years of my mom nagging doctors about it. It took that kind of injury to get any results. 

When the results of the muscle biopsy came back, I was diagnosed with mitochondrial myopathy by Dr. Laverty at UCSD, who was very kind and gentle. She oversaw my disease’s development for a few years too. At the beginning, the doctors thought I had Kearns Sayre Syndrome which has a host of symptoms but I never developed the most fatal one, heart block, so now the doctors say I have a SLMDS–Single Large Mitochondrial Deletion Syndrome. I don’t have enough DNA in my mitochondria and I don’t make enough mitochondria. Mitochondria play a very important role in energy production in all of your body’s cells. You may remember from 5th grade science that the mitochondria are the “powerhouse of the cell” which gives you energy for your body to function. Certain organs are very rich in mitochondria such as the heart, eyes, liver, and muscles. Imagine that your body is running on a car battery but then imagine only having a D battery. You just don’t have the energy to do everyday things. Further genetic testing and clinical symptoms showed that I had a mitochondrial disorder called CPEO+, Chronic Progressive External Ophthalmoplegia. Symptoms of CPEO+ include ataxia, dementia, sensorineural hearing loss, migraines, hypothyroidism, neuropsychiatric manifestations, and optic neuropathy. drooping eyelids (ptosis), paralysis of the muscles that control eye movement, impaired swallowing, and weakness of the limbs. The eye control issue got worse pretty quickly. I now cannot move my eyeballs to the side so I have to turn my head to see to the side. That test that doctors do at regular checkups where you follow their finger is something I fail miserably. During this time, I was repeatedly seen by Dr. Haas at UCSD, who is known as the expert in mitochondrial disease. During our visits, he had me do a lot of walking and dexterity tests, and he recommended a cocktail of medications that I still use to this day. He also referred me to a lot of different studies while conducting a few of his own. Dr. Haas has been very helpful and he works incredibly hard but he is finally giving in to retirement soon. His apprentice, who has trained under him for years, is taking over. I haven’t had an appointment with her yet but I look forward to hearing her ideas about my situation.