I Was Diagnosed With A Rare Syndrome At Age 10: Here's How I've Learned To Own It As An Adult

At age 10, my mom took me to an immunologist who did a blood test and finally had a diagnosis for me: Job Syndrome (Hyper-IgE syndrome)1, a rare, primary immunodeficiency, which is distinguished by atopic dermatitis, recurrent skin infections, and recurrent pulmonary infections.

She was immediately clear that it was so rare, she didn't have further information to share with me aside from the diagnosis. I don't know if she had any other patients who had the condition—it's unlikely since it affects one in a million people—but she knew what it was, and I was grateful for that.

Between the ages of 10 and 27, I dealt with some health issues here and there—but everything felt manageable. I didn't tell anyone about my illness. I was so secretive for so long with everyone in my life, except my parents. I didn't see it as part of my identity, and I suppressed the emotional side of navigating this illness for a really long time.

Then, when I was 27, everything changed. At the time, I was working a high-stress job in beauty PR. I remember strolling down the streets of Manhattan, and after walking two blocks, I felt like I was going to collapse. Quickly, that strange experience became a recurring problem. I'd have to get in a cab, pause on a street corner, or lean against the wall, unable to breathe normally. I lived in New York my whole life, I could walk 50 to 100 blocks and not flinch, and here I was only making it two blocks. It was terrifying. 

I went to my general practitioner, who took an X-ray to see what was going on. First, she thought it was bronchitis, then pneumonia. She gave me some inhalers and antibiotics and sent me on my way. I didn't really think anything of it. 

I saw a pulmonologist who took an X-ray, CT scan, and blood work in one day. The results of the X-ray and blood work came back normal. But I knew there was something wrong. The following day the doctor called me and told me I had a cyst the size of a golf ball in my right lung, and I'd need to get it removed immediately.

I can still visualize where I was standing in my apartment; it was such a shock to my system. In that moment, it was so clear that my life was forever going to change—suppressing emotions and not dealing with my symptoms was no longer an option. There was no more hiding. I'd have to explain the surgery, and why I was on medical leave from my job, to the people in my life.

I called my former immunologist, whom I hadn't seen since I was a preteen, to get a second opinion. She told me, "If you have this surgery, you will not make it out alive." I was petrified and at a crossroads: One doctor said I needed to do it to stay alive; the other said I must not because I will die.

That's when I realized it was time to go to the National Institutes of Health, to meet with the infectious disease doctors. Fortunately, I was treated like a human, not the guinea pig I expected—they really cared about me, wanted to learn about me, and were eager to help. The doctors made it clear that although there were a lot of risks associated with the surgery, it was crucial.

I had the surgery—a lobectomy, where a quarter of my right lung was removed—on March 5, 2012. The recovery was intense: I couldn't walk well, I didn't have much energy, and I couldn't even open my window by myself. What they removed from my lung was something called aspergillus, which is a form of mold. I hoped that after my recovery, that would be the end of my pulmonary issues.  

After my surgery, I realized I needed to shift my priorities. I was working a very high-stress job and was miserable. I'd been convinced that in order to move forward in life, I had to keep pushing through—but my body couldn't keep up with that pace anymore.

So I reworked my diet, I learned to meditate, and I discovered my limits—which I certainly hadn't done for the first 27 years of my life.

The next stage of my journey was starting a business and becoming my own boss, which made it possible to manage my health and life in a way that works for me. Now, I don't take any calls on Mondays or Fridays, and I don't book anything before noon. Those boundaries allow me to prioritize my well-being—for my physical and mental health. I'm able to choose how I use my time—whether it's getting acupuncture, practicing yoga, going for a long walk, seeing friends, sleeping in, or whatever my body needs.

The surgery shifted more than just my lifestyle. After years of hiding my condition from my friends, I began disclosing the underlying reason I needed to have this surgery, and why it was so risky.

Over the years, I've found it can feel like a burden to report to loved ones what I'm going through, as I'm going through it. One big challenge for me is that I'm really good at giving the facts—but I'm not very good at saying how I'm feeling. That's why I appreciate it when my friends check in on me, even if I don't respond or engage. It's important to have ongoing conversations with loved ones, so when something challenging comes up, they pick up on it—since they know you in the good times and the bad.

I've also become a huge believer in therapy because I definitely say things to my therapist that I haven't said to anyone else. Working with her has gotten me expressing feelings I didn't think I'd ever say out loud.

Since it is hard for me to vocalize what I'm going through, writing has become a powerful tool. It's a place to get my thoughts on paper—whether that's through journaling, publishing my work, or being in a writing class. I'm very open to sharing my story to educate and hopefully help other people going through similar experiences with invisible illness.

Bottom line: Managing a rare illness is exhausting. In fact, exhaustion and fatigue are the most dominant feelings I experience—more than anger or frustration. 

One big challenge is, because there are so few people in the world diagnosed with my condition, there's not a lot of information on how to treat the syndrome. It's constantly changing and evolving—which means I'm regularly dealing with reactions to new treatments and then managing them with my medical team. 

Some of the hardest aspects for me are the physical challenges—it's tough to walk up stairs or walk uphill. I have limits, and sometimes I push it too far instead of expressing to whoever I'm with when I need a break or can't talk while I'm going uphill. I don't want to feel different in those moments; I want to be able to do the things my friends are doing.

When I go to a concert for one of my favorite bands, I'd love to dance like wild, but I'm exhausted pretty fast—and that destroys me. Still, I have to listen to my body in those moments. I know when pushing it is acceptable, and when it is not. 

As I've had more conversations with people in the invisible illness community, I've discovered one very important thing is acknowledging your time is equally valuable to your doctor's time. A lot of people go into situations with doctors and specialists who are very well regarded—so if they can get five minutes in their office, they'll take it. But it's imperative to make sure your voice is heard and your issues are met. 

I believe you are so much more than your health, no matter what you're dealing with. In my younger years, I wanted to fit in, and I had so much shame around feeling and looking different. But now as an adult, I'm thrilled that I'm not typical. In fact, I think that's what makes me special—I'm able to identify that I have my health stuff, and yeah, it's weird. But I own it. When doctors see me for the first time and say, "Well I've never seen this before," I'm not rattled anymore.