The Flotation Device I Cling To: Living with Nonsense Mutations of CF

From time to time we invite guest bloggers who are part of the Emily’s Entourage (EE) community to contribute their unique voices to our blog. In honor of May being Cystic Fibrosis (CF) Awareness Month, we would like to showcase individuals directly affected by this disease in our #CFStrong series. Today’s guest is Lizi Silver, a talented writer and mother who has CF. As she recounts her own experience with nonsense mutations CF, Lizi showcases what the game-changing work of EE means for her.

My name is Lizi Silver, I live in Southern California by way of Maryland, Mexico, and Israel, I’m an incredibly proud mother to my 17-year-old daughter who is off to college next year, a wife, a published writer with a Master’s degree, and a person who has Cystic Fibrosis (CF) with two nonsense mutations. I’ll soon be turning 42 (which is like 80 years old in CF years) and my lung function is around that number too—42%, not 80.

My older brother was tested for CF at birth because he was born with meconium ileus, an intestinal blockage which usually signals CF. When my parents received the diagnosis, they had never heard of CF. They were told to take my brother home and love him deeply and quickly because he wouldn’t make it to his teen years. The doctors were wrong. My parents were told there was no chance of having another child with CF. Wrong again. I came bobbing into this world on a fine August day in 1977 and the CF sweat test (a painless, easy-way to find high levels of chloride in the skin of those with CF, particularly babies) was, without a doubt, positive. So salty that pickles envied me.

Although my brother and I have the same two nonsense mutations (2 copies of W1282X, same as Emily!) and share DNA, our experiences of CF have been markedly different. My brother was sick from a young age and was in and out of the hospital for IV antibiotics. I had a lot of CF-related problems but I didn’t have any significant lung involvement until age 21 when I was hospitalized for my first exacerbation. Through these experiences, I learned that what happens to one person with CF cannot be extrapolated to the whole population.

We’re seeing this unfold before our eyes as genotype-specific research, discoveries, and new treatments continue to develop. It’s an exciting time to be alive for anyone connected to the CF community, and there have been many reasons to celebrate. I’ve personally benefited from many of the drugs and treatments that have come through the pipeline over the years; I wouldn’t be alive today without them. But the most life-changing advancements are not for all of us; these therapies work for approximately 90% of the CF population.

The best way to capture how I feel as a person in the remaining 10%, a person within the already very small CF community but furthermore, one within the community who is not eligible for these life saving treatments is this: I am in the water, barely holding on, struggling furiously to stay afloat, feeling my life force diminish, seeing the lights around me disappear as one by one the people in the water with me either drown or get a lucky spot on one of those miraculous lifeboats. It’s a quiet, lonely place to be.

But it’s not a hopeless place to be. The primary reason for that? Emily’s Entourage (EE). When I first met Emily through social media, I immediately felt connected to her. Our shared nonsense mutations, and the root of those nonsense mutations—our heritage and ancestors—immediately bound me to Emily’s mission. We’ve become friendly over the years and even though we’ve never met in person and our lives are quite different (for instance, I tend to be very quiet and private about CF), we get each other. We understand each other’s lives in a way even the closest of friends rarely can.

I admit, though, when I first learned about EE, I thought it was an inspiring, inspired project that would go hard and ultimately fizzle out, as so many nonprofit startups tend to do. Compassion fatigue is real; it’s hard to commit and remain committed to a cause whose mission requires massive amounts of labor, dedication, and patience. Clearly, Emily and her Entourage knew better than I did. And I was happy to be proven wrong.

The level of enthusiasm, commitment, and success of EE has only strengthened and grown.

I still remember the exact moment I realized the full power behind Emily’s vision. Several years ago, EE posted a picture on social media of a party at Tulane University of Emily’s brother, Coby, and a couple hundred friends all wearing EE tanks and tees. These were vibrant college kids, with their entire lives before them, who decided to purchase an EE shirt and attend a party in Emily’s honor. I recognize that many of the kids were there because there was fun to be had. nevertheless, if not for EE, many of these kids would have no awareness about CF and nonsense mutations, let alone care. Even if it was just a single minute of awareness for each of those kids, I believe that minute means something. I believe that minute of awareness is at the core of everything EE is and does.

That small, yet powerful moment of recognition, of seeing a human and letting that human know: “YOU ARE NOT ALONE. We will not let you go without a fight. We will not leave you alone in that fight.”

At the core of EE—the research grants, the doctors and scientists, the volunteers and participants, the donors, the drive to accelerate and educate, the parties and purple tees—the very essence of this movement we call “Emily’s Entourage” is precisely that minute. That small, yet powerful moment of recognition, of seeing a human and letting that human know: “YOU ARE NOT ALONE. We will not let you go without a fight. We will not leave you alone in that fight.”

Life with CF, treading the water like hell just to remain afloat, is a quiet, isolated, and often desperate place to exist; Emily’s Entourage is the flotation device I cling to.

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