I Hid My Genetic Disorder for Years—Until Doctors Found a Golf Ball-Size Cyst in My Lung
This article is part of Health's series, Life Interrupted: Living With an Invisible Illness. Each month, one women will share what it's like to appear healthy on the outside while navigating daily life with a serious physical or mental health condition.
When I was 27, I finally told my best friends about a health condition I had been living with my entire life. I was about to undergo surgery, which was risky because of the rare immunodeficiency disorder I had been diagnosed with in childhood. I was told there was a chance I wouldn’t make it through the procedure. So I sent my friends an email telling them everything—starting from the very beginning, when I first found out about the genetic condition I'm still navigating today.
Unexplained childhood illnesses
Growing up, I got sick more often than the average kid. My mom took me to every doctor, holistic practitioner, healer, and nutritionist in New York City, where I'm from, but no one could explain my recurring skin and lung infections.
After years of searching for an answer, we finally got one when I was 10 years old. I was diagnosed with hyper-IgE, also called Job syndrome or Job’s syndrome, a genetic condition that makes the immune system extremely sensitive. People with Job’s are more likely to experience infections, broken bones, and developmental difficulties.
My family was relieved to have an explanation—but it didn’t make things easier. Since Job’s is so rare, there wasn’t a clear treatment plan. I was put on antibiotics, but aside from that, I had to experiment with different ways to manage the health issues caused by the condition. The immunologist who diagnosed me did tell me about a doctor at the National Institutes of Health (NIH) in Bethesda, Maryland, who had been studying Job’s and might be able to help me. But I didn’t want to be a test subject. I wanted to live my life.
As a teenager, my symptoms were mostly skin-related. I would get red, scaly patches all over my body. To hide them, I wore long sleeves in the summer, and I covered the patches not hidden behind clothes with makeup. I was ashamed of my body; I was ashamed of my condition.
When I would get lung infections, my family would take me for treatment. But no one else in my life knew about this; I'd brush off the medical appointments as something minor. Sure, I got sick more than most of my friends. Yet throughout high school and college, I managed to convince the people around me that it wasn’t a big deal. If I’m being honest, I think I had convinced myself of that, too.
For years, I pretended my condition wasn’t a part of me—until I couldn’t anymore.
A life-threatening turning point
In 2011, when I was 26, I started to get winded from just about everything I did. I was working at a public relations firm in Manhattan, and my short walk to work left me completely out of breath. I couldn’t even get up two flights of stairs without huffing and puffing.
After a few weeks of this, I went to my primary care doctor, who thought I might have pneumonia or bronchitis. She prescribed medication and rest, but for months, nothing changed. I had to take taxis everywhere because I couldn’t walk to the bus stop or get up and down the subway stairs. Honestly, I was terrified.
Two months later, I had my primary care doctor refer me to a pulmonologist, who did a CAT scan and some other tests. The day after my appointment, she called me with the news that made me realize I couldn’t ignore my condition any longer: I had a cyst the size of a golf ball in my right lung.
The last time I had a CAT scan was when I was 11, so the cyst could have been in my lung for weeks, months, or even years. The doctor had no way of knowing—but she did know that it needed to be removed as soon as possible.
We trusted the pulmonologist, but my family and I decided to call the doctor who first diagnosed me with Job’s when I was 10 to get a second opinion. Her response shocked me. ”If you go through with this surgery, you will not make it out alive,” she said. Two doctors, both of whom I trusted, had completely conflicting opinions.
The immunologist who diagnosed me in childhood once again suggested that I speak with the doctor at NIH who had been studying Job’s for years. This time, I agreed. The next day, my family and I drove to the NIH campus in Maryland. A team of doctors there, including the one who'd studied Job's asked me about my history and ran some additional tests, and they ultimately concluded that I did need to undergo surgery.
They said it would be risky and knew of previous cases of people with Job’s not making it through procedures like this. However, other Job’s patients were doing extremely well after surgery, and the doctors didn’t think other treatment options would be enough to get rid of the cyst. The one specific doctor at the NIH who had been studying Job's confirmed that my cyst wasn't cancerous. But it was linked to Job's syndrome; she'd seen it before in other patients.
After the appointment, my parents and I went into a nearby Target. I was in need of some retail therapy and just wanted to distract myself. As I was walking around the store, I started drafting that email to my friends. I told them about the condition I had lived since childhood and never talked to them about. I told them about the cyst and that there was a chance I wouldn’t make it through surgery.
My friends were of course surprised, and they did ask why I hadn’t told them sooner, but they were extremely supportive. They respected that keeping my condition to myself had been my way of coping, and they just wanted to know if there was any way they could help. Sending that email made me feel like I could face the risk of surgery without having any secrets from the people I loved.
On March 5, 2012, I had a pulmonary lobectomy, and a quarter of my right lung was removed. I was relieved when I woke up from surgery. I was told it went well and that they removed the cyst successfully. The risk had paid off.
Embracing an invisible illness
Recovery involved a lot of rest. I knew that my lungs wouldn't be the same, but I didn't realize my life would be affected by my health as much as it has. After surgery, I needed to take two months off from my job at the PR firm; when I did eventually go back, I could only go part-time, but even that was difficult. It was a demanding job, and it didn’t take long for me to realize that my body wasn’t ready to handle it. I ended up leaving the job in October.
I was OK with giving it up because my health scare taught me something important about myself: I wanted to help people, and I wasn’t doing that at the PR firm. As I searched for a new career path, I also began sharing my experiences through writing. I published articles on a number of health and wellness websites in hopes that what I was sharing would help people going through similar health issues.
Though I made a full recovery from surgery, Job’s is something I’ll always live with, and I’ll always have to be mindful of my health. In November 2013, about a year and a half after surgery, I came down with pneumonia and was in the hospital for a few days. At the time of surgery, my doctors didn’t add any new medications to my regimen, but when I got pneumonia, they decided they needed to.
This was the beginning of what’s now been years of experimenting with different drugs. Treatment for pneumonia meant starting my journey with anti-fungal medications. Since that hospitalization, I've been on numerous oral medications as well as several through a nebulizer (which means I spend 30 minutes twice a day inhaling medications). Most recently I started giving myself biweekly injections of another medication. Unfortunately I had scary side effects and decided to stop.
As far as medication goes, I am constantly a guinea pig. We have no idea what will work and what kind of side effects I may have. I feel very lucky to have two doctors who genuinely care about me and want to find solutions. They both respond to my emails within minutes and are always available to answer my questions or guide me when I have a new ailment. I feel extremely supported in a situation that's constantly throwing curveballs at me.
The past few years have also been about me learning to listen to my body. I regularly meet with my doctors and discuss any changes I’ve noticed in my health. For the most part, I feel OK, but sometimes, something concerning will come up. Over the summer, for example, I started coughing up blood. It was absolutely terrifying. My doctors immediately told me to go to the ER, where I spent three days in the hospital. I had no other symptoms and my scan didn't look majorly different from the previous one. Nobody knew what to do with me. We still don't know what happened.
Coughing up blood has happened many times since then, and it oddly started to feel normal, which is scary in itself. It’s still happening now, and my doctors can’t seem to figure out why or how to stop it. It’s scary, but I've learned that uncertainty is a part of life with a chronic illness.
On top of that, I've had a chronic cough since March 2019 that we can't seem to break. I feel like people are grossed out hearing it (as I would be, especially on planes!). I wish I had a sign that said "I'm not contagious, this is just me." I feel like people are scared to have a sip of my drink as they'll catch what I have....not that I should be sharing drinks anyway, because I shouldn't be exposed to other people's germs. Walking uphill and up stairs is also challenging for me. I try to avoid it as much as possible without it stopping me from living my life.
Launching a podcast—and creating a community
Sometimes it can be really challenging to determine how and what to share with friends. It's hard to explain things to them and accept that they'll never understand what it feels like. There are no words that bother me more than "I know how you feel." There is not a single person in the world who knows how I uniquely feel. It can be very frustrating when my friends say "you look great" or "you seem great" knowing I may have felt horrible earlier in the day or had a rough weekend. I know they mean well, but it doesn't help.
When you live with an invisible illness, it's hard to showcase what's going on internally. I am trying to get better about talking to my friends about what's helpful and what's really frustrating to hear. I don't blame them for not knowing how to handle me, though it's hard to spend my energy educating them when I'm trying to navigate my own stuff.
My closest friends know certain things that need to be done to accommodate me. I need cotton sheets because I'll break out from anything else. I will not stay in a crappy, rundown Airbnb or hotel, because there's a higher chance of being exposed to mold. I try to avoid blocks of construction, although it's extremely hard in New York City. My friends won't let me lift heavy things, as they know I don't have the stamina or strength to do so.
I now know that a lot of people out there can relate to the struggles of living with a condition like mine. When I first started looking for content about people living with rare immune deficiencies who were still managing "normal" lives, I couldn't find those stories. All the content I found was very depressing. I didn't want to spend time dwelling on my health issues, I wanted to live my life.
In an attempt to change that, and to follow my dream of helping others, I decided to start my own podcast. In July 2018, I launched Made Visible, a show where I speak with people living with or affected by invisible illness. The goal of Made Visible is to help people living with invisible illnesses feel less alone as they strive to build a “normal” life, while also creating a new awareness of how we can be sensitive to and supportive of people who seem fine, but aren’t. The guests we feature are living with invisible illnesses or they're caregivers, doctors, healers, or others who have a connection to one.
My podcast has brought a community of people who understand what I’m going through into my life, and I've met so many new friends through the podcast. More importantly, though, I’ve been able to help people with invisible illnesses see that they're not alone. I’ve been able to help them feel seen, and they’ve done the same for me—even though when we walk down the street, no one can see what we’re going through.
If you have a story to share about living with an invisible illness, email us at firstname.lastname@example.org
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