Vanessa Nagel
I was 31 years old when I was diagnosed with cystic fibrosis.
I had a complicated medical history that included some classic symptoms of cystic fibrosis, but neither I nor my doctors ever considered them in their totality. The symptoms were treated like separate problems – a mystery cough, sinusitis, nasal polyps, pancreatitis, digestive problems on and off through the years. Treatments were helpful temporarily, then not -- antibiotics for this, nasal cultures for that, breathing treatments and steroids for all of it at times. This went on for years until one specialist advocated on my behalf and brought up my clarifying diagnosis.
I had my 5th endoscopic sinus surgery in December 2023 when I met a new ENT to perform the familiar procedure. Like each surgery prior, I felt the conflicting feelings of hope and disappointment stirring inside me while thinking about the possibility of accessing new treatment options and the dread of being told I’m a medical anomaly without effective options once again. After another successful surgery came the game in figuring out which treatments might be supportive when it seemed I already run the gamut unsuccessfully.
The ENT surgeon called me over the holidays and asked if I had ever heard of or been tested for cystic fibrosis. Alarm bells shrilled-- this was not a merry Christmas. I had flashbacks to high school genetics class textbooks where we saw pictures of sick children in respiratory vests with the words “life expectancy age 25” as the caption. Surely there had been some confusion as my lungs were in good standing. I had never been formally tested, but a prior easily accessible genetic test indicated I was a carrier for the disease. The doctor shared with me that his partner is a pulmonologist and recommended that I complete a more comprehensive gene analysis panel. Since the well-known genetic testing swab I formerly completed only tested for a single major mutation of CF, it did not test for milder gene mutations that could go unchecked.
A few weeks later, the panel results came back indicating cystic fibrosis mutations were present with one common gene mutation and one less-common gene mutation. I met with medical specialists at the cystic fibrosis adult clinic at Northwestern Medicine in Chicago to complete the sweat chloride diagnostic test. While we waited for the results, they listened to my story. I was relatively healthy but on a merry go round of chronic sinus issues and digestive flare ups that had never been resolved despite trying most treatment options available to me. The sweat chloride levels were very high, confirming a positive diagnosis.
As shocking and alarming as it was to get the diagnosis, it was followed by so much grief then relief. It explained everything I had endured through my life up to this point, and, thankfully, I was eligible for a promising treatment called Trikafta that was approved by the FDA in 2019. I have so much gratitude for treatment and find myself often thinking about and grieving for CF warriors living with specific mutation combinations that do not yet have effective treatment available to them.
It has been a year since starting the medication that has changed my life and health. My sinuses and airways mostly are clear, my digestion is more consistent and my migraines have reduced in frequency. Physically, I feel about as good as I ever remember. I try not to dwell on the physical and emotional pain experienced before diagnosis, but I do try to learn from how it went unidentified for so long and make space for the realities of living with chronic genetic illness that I tried to deny for so long.
I took for granted that doctors had it all figured out, never realizing how much we as patients must drive the conversation and self-advocate. I needed to ask more questions, to push harder for answers, to not accept a misdiagnosis like allergies or OTC medications I knew would not be effective when it seemed like something more complex was going on. I also grasped the limitations of specialized medicine from a new perspective. Of course, an allergy and asthma specialist will treat allergies and asthma. An ear, nose, and throat specialist will focus on polyps. A neurologist will focus on migraine. A gastroenterologist will hone in on celiac disease. No one ever put all the puzzle pieces together.
The responsibility lies with me, too. I wasn't always honest with myself about my symptoms due to trauma and the complex social and medical impacts of living with chronic illness. I convinced myself that I was basically fine, and I didn't want anything more to be wrong after years of feeling poked and prodded without answers. Medical bills add up quickly, even with “good” insurance coverage. Having a condition it seems nobody can relate to is isolating, lonely. At times I put my head down and kept going, accepting defeat that I’d have recurrent surgeries every few years for the rest of my life.
One year in, I'm still a work in progress learning to self-advocate and form an evolved relationship with my body and health needs, and I try to keep all of that in mind for quarterly clinic trips. I ask every question I can think of. I don't leave anything out when talking about symptoms. I tell my friends, family and coworkers what I need to be well. I'm re-learning how to feel what's happening in my body and what that means for me specifically, instead of ignoring it and trying to be like my peers who live without genetic illness.
I’m grateful for the deeply attuned and comprehensive care provided by the doctors, nurses, therapists and research team at the Northwestern Medicine adult CF clinic. I have never felt so safe with providers. Trust me when I say I’ve seen MANY over the years. I am also thankful for the Cystic Fibrosis Foundation’s dedication to relentless pursuit of a cure. The Cystic Fibrosis Foundation is the world's leader in the search for a cure for CF and supports a broad range of research initiatives to tackle the disease from all angles.
Cystic fibrosis is a progressive, genetic disease that affects the lungs, pancreas, and other organs. There are close to 40,000 children and adults living with cystic fibrosis in the United States (and an estimated 105,000 people have been diagnosed with CF across 94 countries).
This year, I’ve decided to get more involved with the Cystic Fibrosis Foundation and am fundraising for CF research leading up to the foundation’s Great Strides Walk in Chicago on May 18, 2025. Please consider donating to find a cure or join me on 5/18 to walk on behalf of all CF warriors and families impacted by this rare genetic disease. We will meet at Montrose Harbor at 10:30am and walk 3-miles down lakeshore drive at 11:00am.
Thank you for taking the time to read and learn about my experience with CF, and for witnessing and supporting me through this journey!
---
***There is currently no cure for cystic fibrosis and too many people with CF die young. I’m walking & fundraising to help change that reality.
CF is a genetic, life-shortening disease that devastates the lungs, pancreas, and other vital organs. CF makes it difficult to breathe and fight life-threatening infections, often leading to extensive lung damage and respiratory failure.
Every person born with cystic fibrosis is on a unique journey and experiences this challenging disease differently. While progress has been made, a long road lies ahead for far too many people fighting this terrible disease. We need a cure so that everyone with CF has a better chance to live a long, healthy life.
Will you help us end cystic fibrosis?
By donating to my fundraising goal, you have the power to advance the research and science needed to drive our shared dream forward – a cure for everyone with CF.
I had a complicated medical history that included some classic symptoms of cystic fibrosis, but neither I nor my doctors ever considered them in their totality. The symptoms were treated like separate problems – a mystery cough, sinusitis, nasal polyps, pancreatitis, digestive problems on and off through the years. Treatments were helpful temporarily, then not -- antibiotics for this, nasal cultures for that, breathing treatments and steroids for all of it at times. This went on for years until one specialist advocated on my behalf and brought up my clarifying diagnosis.
I had my 5th endoscopic sinus surgery in December 2023 when I met a new ENT to perform the familiar procedure. Like each surgery prior, I felt the conflicting feelings of hope and disappointment stirring inside me while thinking about the possibility of accessing new treatment options and the dread of being told I’m a medical anomaly without effective options once again. After another successful surgery came the game in figuring out which treatments might be supportive when it seemed I already run the gamut unsuccessfully.
The ENT surgeon called me over the holidays and asked if I had ever heard of or been tested for cystic fibrosis. Alarm bells shrilled-- this was not a merry Christmas. I had flashbacks to high school genetics class textbooks where we saw pictures of sick children in respiratory vests with the words “life expectancy age 25” as the caption. Surely there had been some confusion as my lungs were in good standing. I had never been formally tested, but a prior easily accessible genetic test indicated I was a carrier for the disease. The doctor shared with me that his partner is a pulmonologist and recommended that I complete a more comprehensive gene analysis panel. Since the well-known genetic testing swab I formerly completed only tested for a single major mutation of CF, it did not test for milder gene mutations that could go unchecked.
A few weeks later, the panel results came back indicating cystic fibrosis mutations were present with one common gene mutation and one less-common gene mutation. I met with medical specialists at the cystic fibrosis adult clinic at Northwestern Medicine in Chicago to complete the sweat chloride diagnostic test. While we waited for the results, they listened to my story. I was relatively healthy but on a merry go round of chronic sinus issues and digestive flare ups that had never been resolved despite trying most treatment options available to me. The sweat chloride levels were very high, confirming a positive diagnosis.
As shocking and alarming as it was to get the diagnosis, it was followed by so much grief then relief. It explained everything I had endured through my life up to this point, and, thankfully, I was eligible for a promising treatment called Trikafta that was approved by the FDA in 2019. I have so much gratitude for treatment and find myself often thinking about and grieving for CF warriors living with specific mutation combinations that do not yet have effective treatment available to them.
It has been a year since starting the medication that has changed my life and health. My sinuses and airways mostly are clear, my digestion is more consistent and my migraines have reduced in frequency. Physically, I feel about as good as I ever remember. I try not to dwell on the physical and emotional pain experienced before diagnosis, but I do try to learn from how it went unidentified for so long and make space for the realities of living with chronic genetic illness that I tried to deny for so long.
I took for granted that doctors had it all figured out, never realizing how much we as patients must drive the conversation and self-advocate. I needed to ask more questions, to push harder for answers, to not accept a misdiagnosis like allergies or OTC medications I knew would not be effective when it seemed like something more complex was going on. I also grasped the limitations of specialized medicine from a new perspective. Of course, an allergy and asthma specialist will treat allergies and asthma. An ear, nose, and throat specialist will focus on polyps. A neurologist will focus on migraine. A gastroenterologist will hone in on celiac disease. No one ever put all the puzzle pieces together.
The responsibility lies with me, too. I wasn't always honest with myself about my symptoms due to trauma and the complex social and medical impacts of living with chronic illness. I convinced myself that I was basically fine, and I didn't want anything more to be wrong after years of feeling poked and prodded without answers. Medical bills add up quickly, even with “good” insurance coverage. Having a condition it seems nobody can relate to is isolating, lonely. At times I put my head down and kept going, accepting defeat that I’d have recurrent surgeries every few years for the rest of my life.
One year in, I'm still a work in progress learning to self-advocate and form an evolved relationship with my body and health needs, and I try to keep all of that in mind for quarterly clinic trips. I ask every question I can think of. I don't leave anything out when talking about symptoms. I tell my friends, family and coworkers what I need to be well. I'm re-learning how to feel what's happening in my body and what that means for me specifically, instead of ignoring it and trying to be like my peers who live without genetic illness.
I’m grateful for the deeply attuned and comprehensive care provided by the doctors, nurses, therapists and research team at the Northwestern Medicine adult CF clinic. I have never felt so safe with providers. Trust me when I say I’ve seen MANY over the years. I am also thankful for the Cystic Fibrosis Foundation’s dedication to relentless pursuit of a cure. The Cystic Fibrosis Foundation is the world's leader in the search for a cure for CF and supports a broad range of research initiatives to tackle the disease from all angles.
Cystic fibrosis is a progressive, genetic disease that affects the lungs, pancreas, and other organs. There are close to 40,000 children and adults living with cystic fibrosis in the United States (and an estimated 105,000 people have been diagnosed with CF across 94 countries).
This year, I’ve decided to get more involved with the Cystic Fibrosis Foundation and am fundraising for CF research leading up to the foundation’s Great Strides Walk in Chicago on May 18, 2025. Please consider donating to find a cure or join me on 5/18 to walk on behalf of all CF warriors and families impacted by this rare genetic disease. We will meet at Montrose Harbor at 10:30am and walk 3-miles down lakeshore drive at 11:00am.
Thank you for taking the time to read and learn about my experience with CF, and for witnessing and supporting me through this journey!
---
***There is currently no cure for cystic fibrosis and too many people with CF die young. I’m walking & fundraising to help change that reality.
CF is a genetic, life-shortening disease that devastates the lungs, pancreas, and other vital organs. CF makes it difficult to breathe and fight life-threatening infections, often leading to extensive lung damage and respiratory failure.
Every person born with cystic fibrosis is on a unique journey and experiences this challenging disease differently. While progress has been made, a long road lies ahead for far too many people fighting this terrible disease. We need a cure so that everyone with CF has a better chance to live a long, healthy life.
Will you help us end cystic fibrosis?
By donating to my fundraising goal, you have the power to advance the research and science needed to drive our shared dream forward – a cure for everyone with CF.
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