My mom and I have waited more than 50 years for the miracle of Trikafta®, a drug that has significantly restored my lung function, greatly improved my quality of life, and changed the trajectory of my disease.
This cystic fibrosis story began before I was born when an infant on my mom's side died of diarrhea, which we later realized was likely untreated CF. Decades later, imagine how shocked and heartbroken my mom must have been when she learned that I had the same diarrhea disease at 18 months of age. Even though the term cystic fibrosis had been added to the medical lexicon in 1938 (when life expectancy was 6 months) little progress in the treatment of CF had been made between then and 1970 when I was diagnosed. In fact, upon discharge from the hospital where I was first diagnosed, the doctor gave my mom two prescriptions: enzymes to be taken with every meal and the antibiotic erythromycin to be taken every day to help manage chronic infection.
The doctor's ominous last words to my mom before she left the hospital were, “Even if you do everything we recommend, he'll be lucky to make it to his 10th birthday, so don't be too hard on yourself.”
Reeling from the doctor's diagnosis and prognosis, my mom, who's one of the most courageous fighters I've ever known, did not give up. Rather, before they even got home from the hospital my mom and dad decided to fight the disease with everything they had by learning as much as they could about it. They found a local expert, Dr. Steward (who I loved), and followed all his recommendations for my care. He and his staff taught my mom how to do percussive treatments (PT), and he recommended that I sleep in a mist tent and isolate from others and that my family practice rigorous infection control.
With their support and encouragement, my mom undertook a grueling daily regimen that entailed several hours of care including cleaning and disinfecting my room, bed linens, and mist tent, as well as doing two one-hour PT sessions. Additionally, my mom made sure I stayed in my mist tent -- which is no longer used for CF -- for 12 hours every day and only went outside on days in which there were no smog alerts (approximately one out of three days). This was in San Jose, Calif., where the city was all too often shrouded in a haze of pollution in the 1970s before the current environmental emissions rules were implemented.
My dad, for his part, remodeled my bedroom by replacing my window with a large glass slider, so I could watch my brothers play in the backyard on days in which I couldn't go outside. Fortunately for me, during a vacation in rural Québec when I was 5 years old, my parents noticed that my cough and my energy levels improved. They correctly surmised that the improvement was attributable to the higher air quality. So, my dad, who was an engineer at IBM, conducted an extensive analysis of air quality surrounding all the IBM plants in the country. Shortly thereafter, he submitted a transfer to relocate the entire family to Apalachin, one of the smallest towns in one of the most rural counties in upstate New York.
Although moving to a one-traffic-light town from the military and industrial hub of San Jose was undoubtedly a massive upheaval for the whole family, it did enormously improve my health so that I was able to do normal things for the first time in my life, including playing hockey and football and running track. Fortunately, that change enabled me to live a relatively healthy life except for a couple of nasal polyp surgeries and sports injuries.
However, as I entered my teenage years -- when most kids my age were struggling with angst, puberty, and identity issues -- I was wrestling with life-and-death issues as I watched up close as one by one the CF kids I knew died, and I struggled with survivor's guilt.
In a few short years, my once bright, optimistic disposition began to darken, which led to a period of depression, drinking, and self-destruction. In high school, I drank regularly, experimented with drugs, and had more than a few run-ins with the law, which all culminated in my referral to mandatory inpatient treatment two weeks after my 18th birthday.
I can't even imagine how crushed my mom must have been to watch me go through all that after she fought so hard for so many long years to keep me alive. Despite how exhausted and saddened she must have been -- particularly since my dad was also in the late stages of lung cancer -- she made the long, lonely, five-hour journey every Sunday for the six weeks I spent in rehab. She was also there to celebrate when I successfully graduated, took me to countless Alcoholics Anonymous meetings, and even drove me to Syracuse, N.Y., to help me move into the halfway house where I would live for the next three years.
She had immense patience with me when I went through the emotional hills and valleys of early sobriety, and she was so tender and compassionate as she helped me work through the loss of my dad after his long, hard fight with cancer.
The night I drove myself to the ER after experiencing my first serious bout of hemoptysis (coughing up blood), she nearly beat me to the hospital even though she was two-and-a-half hours away.
Throughout my whole life, whenever I faced setbacks in my battle with CF, including dozens of infections, superinfections, more infections, hospitalizations, IVs, surgeries, and secondary diagnoses, she was a consistent, steady, calming voice, offering hope and reminding me of the joy I had to look forward to when there was no more suffering.
My mom and I, as well as my wife of seven years, watched hopefully as the new class of CF modulator drugs progressed from studies to FDA approval. Through the ups and downs of applying and getting turned down for numerous modulator studies, finally receiving other modulators, and being disappointed with the results, we all prayed, hugged, cried, and waited patiently -- yet expectantly -- for the breakthrough we knew was coming. On the day I finally received Trikafta, we all cried because we had a feeling -- based on the buzz -- that this would be a game-changer. Needless to say, it lived up to the hype. My first pulmonary function tests (PFTs) after starting the drug showed that my lung function improved to what it was eight years ago.
My cough is so mild now that I can't remember what it was like to cough every two minutes and pull off the side of the road every morning on the way to work because I coughed myself dizzy.
Every time I experience one of these Trikafta moments, I can't wait to share the joy and gratitude with my mom and my wife. From failing to thrive to thriving in life, I've come a long way from mist tents to Trikafta -- a journey that would have been impossible but not for my wife, MaryGrace, and my mom, Gisele Yelonda Marie.
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