On Thursday, July 15, 2021, Emily’s Entourage (EE) held a “Patient Listening Session” with the U.S. Food and Drug Administration (FDA) to advocate on behalf of the final 10% of the cystic fibrosis (CF) community that does not benefit from existing targeted therapies. You can read a recap of the session here. Below is a testimonial from one of the six members of the CF community who shared their experiences living with the disease.
My name is Natalie Wasserman Kingston. In my first 24 hours of birth, I was diagnosed with cystic fibrosis due to a meconium ileus, an intestinal blockage common among CF infants. Within the next 24 hours, I would be fighting for my life — barely clinging — due to a perforated intestine and rupture, requiring an emergency ileostomy.
My parents were told I wouldn’t survive, but I defied the odds and made it through. They were also informed that the gene causing CF had just been identified, but in 1989 many children had a life expectancy of 10 years. My parents learned later that my particular genetic mutation, W128X, is not the most prevalent gene combination which causes CF.
When I was in middle school, I started to become sick more frequently with nasty infections that would start in my sinuses and pour into my lungs. My entire head would pound for days with no ability to breathe through my nose. After all of the treatments, antibiotics, and trips to the ENT for flush-outs were over, I would have less than a few days before I was at war fighting a lung infection — trying to hide my coughing and nose-blowing from my peers.
During high school, I was hit hard by the nemesis I have been battling in my life non-stop, every day for over 16 years. It is a species of Burkholderia bacteria that is relentless and causes recurring infections to my lungs. The recurrent lung exacerbations were not prevented by inhaling medications, by taking oral antibiotics, by enduring PICC line insertion procedures, constant breathing treatments, and chest physiotherapy.
Freedom was not part of my life as my disease progressed — I was tethered to oxygen concentrators 24 hours a day and IV antibiotics around the clock. I required a double pillbox full of medication, with alarms beeping incessantly on my phone to remind me continually that I am in a constant war with the bacteria in my body and I could lose on any given day. My entire life has been consumed with fighting to stay alive.
I earned a master’s degree in education but was only able to teach for three years because of the toll on my health. I was forced to apply for disability and Medicare. I could no longer work full-time and stay healthy because my entire day was devoted to my CF care. My husband could not cope and exited the marriage. He never “realized it would be this hard” and could not deal with the complexities and intense nature of this disease. This disease has obliterated many opportunities to find true love with a romantic partner and to have my own family.
During my first year of teaching, I woke up in the back of an ambulance and the right side of my body was completely numb and paralyzed. Dried blood covered my face and chest. My lungs bled during my sleep and my oxygen was extremely low. I have endured dozens of similar episodes in the last five years, accompanied by terrifying stroke-like symptoms. Sometimes the force of coughing sends my body into this state. It is an experience of pure terror: I am trapped in my own body trembling and screaming without being able to speak — all muscles contracted throughout my head, neck, arms, and legs. I cannot breathe air in or out and am left gasping while sweating profusely.
I experience near blindness and a pressurized squeezing headache that feels like my head is being crushed between metal plates. My body turns on itself until the bleeding stops and my lungs can try to recover. The length or occurrence of these episodes is completely random. I now suffer from PTSD from the worst of these episodes and the constant fear that I may not be able to summon help before I die.
I think a lot about how a [mutation-targeting] drug, like Trikafta, would change my life from a constant battle with death to a normal existence with every possibility for living a quality and fulfilling life. The double-lung transplant I just received is not the panacea that some people would imagine — rather, it is a last-ditch effort to allow me to breathe on my own.
Although my gratitude for the outstanding medical care I have received at the University of Pittsburgh Medical Center is boundless, I have not been cured of cystic fibrosis. My organ systems would benefit greatly from a drug that nullifies the effects of the nonsense mutation on chromosome 7 in my DNA. I see and hear how others are benefitting from newly discovered drugs like Trikafta, and I do not want to be left behind. Someone holds the key to my freedom from this dreadful disease and every day I hope and pray that my future is unlocked.
We couldn’t be more grateful to Natalie and the five other members of the CF community for courageously sharing their candid, personal experiences of living with this fatal disease. We remain in eternal awe and admiration of their commitment to advocating for the urgent unmet treatment needs of those in the final 10% of the CF community.