On Monday evening, October 18, the start of the start of my life will begin…maybe.
I am getting access to a miracle drug created for people with cystic fibrosis. It has eradicated the disease from the lives of those with mild disease and it has rescued those with moderate to severe disease. It.is.a.game.changer.100%
So by the grace of God I get access to this miracle drug called Trikafta.
What does that mean for me, after 50 years of being sick, of being told I would never live to 50, I would never marry, I would never go to university, I would never grow old. All the things I have already done. It means to me that those voices are about to be silenced once and for all.
Is it a cure? No
Is it a game changer? Yes/maybe. There are not enough studies on my gene but in the studies out there, it responds very well.
What exactly does this drug do for my very broken body with a defective gene sitting on the 7th chromosome, which by the way was discovered by a Canadian scientist. This drug is a direct result of Chinese-Canadian Dr. Lap-Chee Tsui a geneticist who in 1989, discovered the gene thought to be partly responsible for cystic fibrosis (CF), and his research team sequenced human chromosome 7. As the location of the gene associated with cystic fibrosis is now known, it is possible for doctors and specialists to identify in human fetuses the mutation to the gene that partly causes the disease. Tsui’s research also outlined the mechanisms for the development of cystic fibrosis which were previously unknown.
I digress, so what will this drug do for me, someone with fixed disease, as in I have permanent unalterable lung damage?
Well first I need to explain how the drug works. So all CF patients were born with a set of defective genes that causes CF. The biggest issues from this defective gene is it does not allow proper chloride channels to function in the body. When these channels do not work it creates an abnormal amount of mucous throughout the entire body. Mucous that is very difficult to expel. It blocks the pancreas and the reason why I need synthetic enzymes to digest my food, it blocks the airways and traps harmful bacteria in the lungs, it makes it difficult to conceive, it clogs up the sinuses, creating major sinus issues, it literally chokes the life out of me. The reason most patients die from CF is from respiratory failure. The mucous in our lungs allowed an empire of harmful bacteria to live and thrive, starving out viable airways and destroying and scarring lung tissue. Basically pinching an empty balloon closed with no air left to expand. The medicines up until now have focused on airway clearance and antibiotics. In my life its been a long arduous routine of doing physical therapy, inhaling different meds, ingesting many other drugs, exercising, and keeping weight on. Later in life I ended up getting diabetes due to the continual blockage of my pancreas not being able to send insulin into my blood stream. So I had to add daily injections of several types of insulin to that arduous routine. In 1992 mucolytics were developed and became a significant treatment with great results for those of us with CF, but it wasn’t the answer. A mucolytic is a drug that we inhale that attempts to thin out the thick, sticky mucous, allowing the antibiotics to get where they need to go to be effective. Eventually the lungs have had every drug out there and our body just stops responding and the next step is lung transplant or death. That has been my only end game until now. A lung transplant is also not a cure. It is the only option to death until now…
I may still need a transplant due to the extensive damage in my lungs but with this miracle drug it may be delayed for many years instead of many months. I’ve been lucky, if you can call it that. I work extremely hard and I am 100% compliant with all my treatments. I exercise like a crazy person and is the key reason why I have been able to keep my airways as clear as possible. I have a feeding tube to ensure I get the 4000 calories I need daily as eating that much is impossible. I have been on disability since 1998 when CF forced me to “retire” as my daily routine taking care of myself became a full time job. Currently I spend over 6-8 hours a day just treating myself. I fight to live and live to fight. I am a warrior in the sense that I will never back down from this war within my body. But it looks like reinforcements have arrived.
Ok so what am I hoping this drug will do for me?
1. This drug will get rid of all the mucous in my body and with that the coughing stops. It will fix that broken chloride channel and allow my body to work as normal. I cannot even fathom that. I have been coughing my whole entire life, day in and day out, night after night after night. It is relentless. Yesterday I decided to count how many times I cough in an hour. Any guesses? 4? 10? 30? well it was 27 times.
2. Now with no coughing my body will stop burning up all the calories doing the coughing. My coughs are long and hard. My mucous is thick and sticky so to get one little bit of lung butter (mucous) out of my body is the same as coughing up cement. I’d guess I burn 200-300 calories easily.
3. With no mucous in my lungs anymore there will be no need to do the inhaled treatments 3-4 times a day, a saving of 2-4 hours of my life back per day.
4. With my pancreas no longer blocked by these abnormal amounts of mucous the natural enzymes meant to help me digest food will be able to leave the pancreas and digest my food naturally instead of me taking over 100 enzymes a day. Now this drug will not completely eradicate my need for enzymes as I have fixed disease of the pancreas but it may allow me to need less.
5. With my pancreas working better and my body better equipped to absorb nutrients I will be able to gain weight more easily. Right now I need to do nightly feeds into a tube into my stomach with 2000 calories of nutrition to help me sustain my weight. When I lose weight I have to increase my feeds. I eat normally during the day but its not enough to get to the 4000 calories a day I need to fight all the issues caused by CF. In a nutshell, I may be able to get the feeding tube pulled and get back to wearing a bikini once again, in the summer, on a hot day, by a pool, of course.
6. With the need for less calories to fight CF I will get a nice big jump in energy. I have no idea what that will feel like. I rarely have energy. I wake up exhausted and go to bed exhausted all while being exhausted during the day. Simple tasks take up a whole day for me currently. I am so tired of being tired.
7. I am hoping for less need for pain management. My thoracic cage is chronically inflamed fighting the bacteria in my lungs waging war on my life and it hurts a lot. It’s nauseating most days. Not to mention the strain on my scalenes in my neck from coughing and hunching forward with every cough. My posture is brutal and almost all CF’ers have this big barrel chest that is pretty pronounced. I absolutely hate it. It looks sickly to me and I hate showing my disease to the world.
8. I am also hoping that I will not need to sleep with oxygen. Boy what a treat that would be. Having this leash wrapped around my face is frustrating, extremely uncomfortable, tiring and a huge pain in the ass. I also hope I will need it less for arduous activities like my rowing and crossfit workouts and vacuuming.
9. It has the potential to help my diabetes, might need less insulin which means less injections.
10. My sinuses are a train wreck from years of damage done by many many surgeries removing polyps due to the abnormal amount of mucous in my nose. They are chronically inflamed and currently I have a benign tumour sitting on my optic nerve that needs immediate surgery. A surgery that is delayed due to the high level of Covid in my city and the hospitals being slammed with the unvaccinated.
11. Mentally I hope it stops my daily demon dives and depression. It is extremely difficult living with a lung disease that progressively worsens with no cure and the need to have to fight through a double lung transplant is your only option IF you qualify. And then if you do get a transplant you trade one disease for another, you have no guarantees you will survive and you are prone to many different cancers. It’s the only option to dying, again, only if you qualify. I would love to remember how it feels to feel well. To feel normal. To feel energetic. To feel hopeful. To feel alive.
12. I am hoping that the dreams I had to put on hold/gave up may resurface. I have wanted to be a lawyer for 35 years. I wrote the LSAT, had a decent score and the president of the University of Calgary, Murray Fraser, wrote me an amazing letter for my application. It ended then and there. I think I may be delusional as that is a huge goal to go after at the age of 49.5 and I may not be well enough to take on that challenge but never say never.
13. The most important thing I hope it helps me with, is to start living again.
I have become a hermit. Going out is exhausting, anywhere. Overnighters I stopped once I had to use oxygen. To pack up all my meds, machines and oxygen is as much work as going out. I stopped all that. I made one exception every year to go to Mexico or somewhere hot. But that was worth it. I always got a slight reprieve with my lungs being at sea level. I digress. But yes, I want to start chasing the northern lights, staying up til midnight around a campfire, walking along a river for an hour, drive somewhere cool, hike, sit on a patio and talk without coughing and needing oxygen, because talking is hard. I have resigned myself to be grateful for the great life I have lived and all the great adventures I have had. Ive been fortunate despite my illness. I love crossfit but its gotten so hard to do a simple workout. My body is starting to let me down. I want to start going hard again on my physical activity. I was an athlete my whole life until I couldn’t be anymore. I want to laugh again. Let me repeat that. I WANT TO LAUGH AGAIN. I stopped laughing because laughing led to excruciating coughing fits. It also freaked out my family and friends who thought I was about to pass out. Such fun it was to laugh…NOT!
14. I am hoping that I get an improvement in my lung function. Even a tiny improvement will make a huge difference in how I feel. I have permanent lung damage so that’s not going to change BUT it should not worsen as I get the mucous and thus the bacteria out of my lungs. As of today an increase in lung function is NOT possible but as of tomorrow that could change. What a wicked thing to think about.
Right now every time I cough, check my insulin levels, do an inhaled treatment, take my enzymes, choke on a mucous plug, I think, could this nightmare be over? Am I worthy of this gift? Is it possible to get up in the morning and just go do something without needing 4 hours of prepping my body to barely survive the rest of the day? Can I vacuum my house and not need 3 days to recover? God I sure hope so!
For the first time in my life, I have hope that a future without disability is a possibility. To stop being sick and broken. I pray that this drug does for me what it has done for thousands of others. I want to celebrate my 50th next year from a yacht in Greece! Hey, a girl can dream.