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.
Hello, my name is Arek Puzia and I am the father of Natalie Puzia, a 7-year-old girl with cystic fibrosis. Natalie was born in San Francisco, Calif., in 2014, and thanks to a newborn blood screen that was started in California in 2007, we were told within three weeks after her birth that her bloodwork and subsequent DNA test came back positive for a homozygous CFTRdel2,3(21kb) mutation on the CFTR gene. To say we were devastated and confused would be an understatement. Not only had we never heard of cystic fibrosis, but we had done DNA testing when we learned we were pregnant and the test came back clean with no expected issues.
We were quickly thrust into the world of healthcare and medicine and rare diseases, and the last 7 years have been a whirlwind, to say the least.
Our lives over the past 7 years have changed dramatically. Natalie starts every morning with Albuterol to open up her lungs. Then we connect her to a Vest machine which shakes her lungs to clear them of built-up mucus. The Vest is a machine that requires its own piece of luggage when we travel and weighs about 30 pounds. While the Vest machine is shaking her, she first breathes in a 7% sodium chloride solution via a nebulizer. The salt concentration irritates her airways and results in her coughing. Once that solution is done, she switches the nebulizer to a dornase alfa medication, which helps break up the mucus and increase its viscosity. Before bed, she must complete this entire pattern for the second time in a day.
All of this is only when she is healthy. If she catches a cold or the flu, then this exercise is repeated every four hours.
We can now say that when COVID hit the world full force at the beginning of last year, we felt more at peace than most others. All of the adjustments and concerns that the world population all of the sudden faced was an everyday thing for us for the last seven years and continues to be. You see, there is no vaccine against cystic fibrosis.
In fact, for Natalie’s mutation, there is no mutation-specific treatment at all. The technology that Natalie uses to keep her lungs as clean as possible is over a decade old. The new advancements in cystic fibrosis mean absolutely nothing for her.
In a way, we are glad that she is only 7 years old and not old enough to be crushed by the agonizing fear and frustration of realizing that you have nothing available to make you better when so many others are cheering incredible progress.
Natalie just this summer started her first year on an official swim team. While we watch the other parents of young swimmers cheer their kids on to win and keep getting better, we simply hold our breaths that Natalie will find joy and pleasure in swimming.
Natalie needs breakthrough drugs. Cystic fibrosis is a ticking time bomb. We don’t have the luxury of waiting for decades for multiple studies. We are open to wide-ranging research participation. We would like, at a minimum, for Natalie’s treatment regiment to be less burdensome. Certainly stopping the extensive treatments, multiple times per day, would be a great starting point. But ultimately, we want to try breakthroughs that can extend Natalie’s life expectancy, with the ultimate goal of curing her of this horrendous illness.
We understand that there are risks involved with any new breakthroughs. If we felt, in consultation with Natalie’s doctors, that death or permanent damage was unlikely (less than 1%) we would likely participate in a trial. As Natalie’s father, I want to make clear that any decision we make on Natalie’s behalf we make because we truly, deep down, feel that it is in her best interest.
Phage therapy, mRNA, Crispr, and many other emerging technologies all hold tremendous promise. But we also are very informed consumers who are ready and willing to take risks. We are ready to sign up for and participate in studies. Before enrolling Natalie in a study, we would want to know that a successful outcome would improve Natalie’s life expectancy or make her treatments less burdensome. We would especially embrace studies around gene therapies, whether the host DNA is altered or a temporary mRNA molecule is introduced. We understand statistics and can talk things through with Natalie’s team.
Natalie has much to offer the world. Her zest for life is absolutely incredible. I admire her determination and will to live. I am honored to be her father. At the same time, I am scared beyond words. Natalie is my only child. The thought and fear of losing my only child is something that I can’t even begin to describe.
We couldn’t be more grateful to Arek 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.