My Accidental Rare Disease Diagnosis (Part 2)
Last updated: May 2023
This is the second article in a 2-part series. Be sure to check out Part 1: New Symptoms, New Fears: The Beginning of My Rare Disease Diagnosis.
After my 2 hospital stays and the trauma that came from those, I was determined to figure out why my body was going haywire.
I ended up sick yet again and was told while in the hospital that I needed to fire my primary doctor. Had he done a simple test, I would have never collapsed my lungs. Now I had a whole new batch of doctors trying to figure out what was wrong. I highly suggest you don't play Pokemon Go with doctors and try to catch them all.
New primary doctor, new allergist
My new primary told me that my immunoglobulin E (IgE) levels would skyrocket every time I got sick so I was having an allergic reaction to something. My stepmom insisted that because I'm allergic to dogs, my own dogs were causing this.
Being the stubborn person I am, I went to find an allergist. Years prior, I had an allergy test done, and I figured it didn't hurt to run one again. My new allergist/immunologist asked me some questions:
- When I was a child, did my baby teeth fall out? My answer was no; they didn't fall out.
- Were my joints hyperflexible? Yes, they were.
- Is the roof of my mouth a higher arch than normal? I didn't know. I don't go looking into people's mouths. He checked mine, and it's indeed higher.
- Did I have skin infections or eczema growing up? Yes, I had both.
- Did I have pneumonia? Yes, I did.
Finally, a diagnosis!
Looking at my chart from my hospital stays was his indication to ask me these questions. He checked my joints, had me walk and answer more questions, and finally said he knew what was happening to me.
I have Hyper IgE syndrome. It's very rare; 1 in a million people have it. It's genetic, or at least STAT3 (also known as Job's syndrome), the type I have is.
He gave me a small pamphlet and said do NOT Google it. I needed genetic testing to confirm, but he was positive this was causing my hospitalizations. I remember feeling relieved. Like I no longer needed to be afraid that I wouldn't be able to stop collapsing my lungs and would die. I went out to my car and cried.
I cried in happiness; I cried in relief that we caught it.
Setting off new fears
I, unfortunately, didn't listen, and I did Google my illness. That set off a whole new load of fears. I found the only support group online, on Facebook, and the day I joined, a 24-year-old woman in the group passed. Given that I had nearly died, that was like someone throwing cold water in my face, and I was afraid all over again. I left that group faster than you can blink.
From then on, I learned to ask my husband to look up information because he can break it down for me in a way that doesn't make me spiral with fear.
My rare disease journey
I had genetic testing done twice, and yes, it came back positive. Then I tested my 4 babies because right after diagnosis, I found out I was pregnant with baby number 4.
My journey has many hills and valleys, but I wouldn't trade it. Without going through what I did, I wouldn't know how to take care of myself properly, and I definitely wouldn't be an advocate for rare diseases fighting to make change.
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