Growing up, there was a nine-letter word I yearned for but once I finally got it, it wasn’t as life-changing as I imagined it to be.  Having a diagnosis, of course, is better than not having one, but learning pretty much all my medical problems could be tied together in a bow called Gorham-Stout disease left me with more questions than answers.

Up until I was 16 years old, the Children’s Hospital of Philadelphia had been treating me for various medical problems, including multiple cases of meningitis and unusual bone growth. There was only so much they could do to find a diagnosis for me; in the end they decided I needed to be sent to the famous Mayo Clinic in Minnesota. There, I was eventually diagnosed with Gorham-Stout disease – a disease so rare there are less than 300 documented cases in history.

That number isn’t entirely accurate as it is not an easy disease to diagnose and those who have it may not notice its effects until much later in life. Gorham-Stout disease, however, is something you develop in the womb as a result of mutant DNA strands so you have it your entire life but it doesn’t mean it will be active. The only reason why my bone problem became noticeable at the age of three was because the disease attacked my skull first, allowing infections to bypass to my brain.

The bone disease, aka vanishing bone disease, is a complicated one that I still can’t manage to perfectly describe. Basically, Gorham-Stout disease causes bone loss and soft spots (called lucencies) in bones, which leads to a bunch of other problems. For example, my chronic hip, back, and knee pain is attributed to the fact that my spine is misaligned because of a missing (hence the vanishing nickname) lumber link in my spine.

In fact, I have chronic pain throughout my body due to lucencies, bones fusing together, or erosion. I’m lucky that I have only broken a bone once, which was a freak accident where I just happened to fall on my humorous bone right where the soft spot was. Suffice to say, though, I do panic every time I fall or hit a bone in fear there is a lucency there. I understand why my parents were so hesitant with me playing softball, jumping on a trampoline, climbing trees, and basically any injury-prone activities as a kid.

Throughout my life, I have lived through a lot of hard times and near-death experiences but the toughest thing that came with this disease was accepting the fact that things could never go back to the way they used to be. It’s something people really don’t talk about but with any diagnoses, you will mourn your old self. I went from being an active, physically strong, softball playing teenager to a disabled person who can’t walk up stairs very well, stand or walk for long periods of time, or lift anything too heavy.

The disease changed my future but, in time, I accepted my new reality. I’m not perfect, and I never will be, but I have learned how to adapt and do things a different way. Having a rare disease makes me one in a million (except, the million is more in the 100th place) and it can be incredibly frustrating sometimes, but I have people in my life who accept me for who I am—and in the end, that is all that matters.