My Rare Disease Journey

“Your journey has molded you for the greater good, and it was exactly what it needed to be. Don't think that you've lost time. It took each and every situation you have encountered to bring you to the now, and now is right on time.”

When I was 7 years old, I fell backwards off a tree branch and landed directly on my head and neck. At the time, we were reassured I was okay and had a minor concussion (if that). But over the course of 15 years, my health spiraled out of control in ways I couldn’t begin to explain. In October of 2016, I spent 2 weeks undergoing extensive testing at Mayo Clinic where I was diagnosed with Central Sensitization Syndrome at the age of 26. My central nervous system was in a heightened state of alert and sensitivity, causing dysfunction and chaos across the board. Central Sensitization (CSS) can be induced by many things including physical trauma, viral and bacterial infections, chemical exposure and environmental factors.

While I was reassured at the time, the extent of the fall and physical trauma is now considered to be a traumatic brain injury. The short-term consequences were nothing compared to the long-term and I was given zero warning as far as what to expect or look for. What I also didn’t know at the time was that any future illnesses and physical trauma would further worsen the neurological condition. As a competitive cheerleader, there were many other tumbling falls. And from middle school to sophomore year of high school, I had been sick with mono and viral meningitis. It appeared as though I was the perfect poster child for Central Sensitization Syndrome.

But 4 years later, I was still exhibiting debilitating symptoms and despite any and all lifestyle changes, they continued to progress. I had always thought that maybe Mayo Clinic missed something but had no idea the extent to which it could be. When it came time to be vaccinated, I was concerned with how my brain/body would react. My body goes into flu-like episodes when exposed to harmful chemicals such as bleach, hairspray and WD-40. Wanting to avoid an adverse reaction, I reached out to a local immunologist to confirm it was safe with my diagnosed conditions.

Upon meeting her, she immediately noted that whatever was causing my red/flushed skin was not at all normal and advised holding off on getting vaccinated until she could run further testing. She first wanted to rule out mast cell activation syndrome (MCAS), mastocytosis and C-kit mutations. We did a lot of bloodwork, experimenting with different factors such as medications, postural changes and during flare-up episodes.

After nearly 6 months, I was diagnosed with autoinflammation. Meaning, I have a rare, autoinflammatory disease that needs to be identified and treated. What I thought was mast cell was actually livedo reticularis / racemosa most likely caused by inflammation of the blood vessels— AKA Vasculitis. With that confirmation, we quickly realized that the flare-up episodes consisting of red/flushed skin, excessive sweating, abnormally high blood pressure, migraines and violent projectile-like vomiting (always occurring in that order) were actually transient ischemic attacks, aka mini-strokes, caused by lack of oxygen to the brain.

I was shocked, to say the least. I couldn’t believe Mayo Clinic missed this diagnosis. I truly thought this part of my health journey was over, that Mayo Clinic did their due diligence and there was nothing left to worry about. But the more I learned, the more I understood the rareness of these diseases and the complexity to detect, diagnosis and treat them. These diseases are caused by gene mutations, whether one or several, and genetic testing and genome mapping is the only reliable way to get those answers accurately. Right now, we don’t know what caused the gene mutation, what specific gene(s) is affected or even how many there are. About 72% of gene mutations are hereditary while the rest can be caused by physical trauma, viral and bacterial infections, chemical exposure and environmental factors, to name a few. (Sound familiar, Central Sensiziation?)

I’ve recently been asked about my trip to Mayo Clinic and whether or not I was misdiagnosed. There are a few things about that I want to unpack. Considering my medical history of physical trauma to the head and neck, as well as viral and bacterial illnesses, I fully understand and accept the Central Sensitization diagnosis. I have multiple chronic illnesses and symptoms that are unrelated to the autoinflammatory disease. But was there more they could have done to reach the same conclusion as my local immunologist? Yes. But here’s the thing: no amount of anger or blame will change what happened or make up for the time lost. And even though it went undetected, they were still able to rule out quite a bit— all things that any doctor or hospital would need to do to reach the same conclusion. I was understandably upset that Mayo Clinic provided only a partial diagnosis, but that’s the reality of living with a rare disease. The “big” picture is not easily seen by everyone.

The aspect that saddens me the most is fully knowing that 3 out of 10 children with rare diseases won’t live to see their 5th birthday. When I consider that reality, it puts a lot into perspective. My health has deprived me of a lot things but the most significant being that I can’t give birth to a child of my own without risking the possibility of them suffering from the very same gene mutation(s) and rare disease. At first, my heart was shattered. The idea of not being able to experience the beauty in giving birth saddened me and wasn’t a reality I wanted to accept.

But then I thought about the kiddos (and now young adults) in my life who I love and have had the greatest pleasure in watching them grow. I cherish our special bonds and there’s not a thing I wouldn’t do for any of them. Becoming an aunt was the greatest thing to ever happen to me. I’m not saying I don’t want children of my own but I’ve made peace with it in a way that doesn’t hurt or sadden me. It provided me with the purpose I needed to keep fighting for my health— so I can help fight for the next child to be diagnosed.

My mom and I spent 15+ years running in circles prior to Mayo Clinic in 2016. After receiving the diagnosis and being further educated, I remember thinking “how many more people are out there suffering from this with absolutely no idea?” It took a while to process everything but I became adamant about one thing— becoming the person I needed when I was a sick, confused and hopeless 13-year-old.

I spent the majority of my life fighting for my health. And it was in that very moment I realized the significance of being an advocate on behalf of those with disabilities, chronic illnesses and rare diseases like myself. That sharing our stories and establishing a sense of community makes us stronger. That not only fighting for my health is worth it, but being able to help fight for someone else’s is even more special and rewarding.

I’m constantly seeing Central Sensitization related content on social media, especially post-pandemic. The condition was only coined in 2000 and wasn’t seriously discussed or researched until 2011. Therefore, being a relevantly new concept, very few doctors know how to detect and diagnosis (much less treat) such a complex condition. In addition, when bloodwork indicates nothing, most doctors send you on your way without a second thought— which happened to me time and time again. The idea of this happening to anyone else literally keeps me up at night.

I recently saw a Michael Che meme highlighting how black kids never get sufficient medical diagnoses and that it took 27 years for his uncle to be diagnosed as deaf. While it was said during a stand-up, it really got me thinking about just how many people were out there suffering without a diagnosis due to their race, lack of resources and/or socioeconomic status. To put it in perspective, I’m a white woman with private health insurance and I STILL went disbelieved and misdiagnosed for 15+ years. The thought of that alone can drive me insane. But in all of that frustration, my purposed was reiterated.

If I can help another individual or family avoid and overcome what I went through, whether it’s guiding them on their journey or sharing a part of mine— everything I’ve gone through, and continue to, will be beyond worth it. And with genetic testing, genome mapping and gene therapy paving the way in modern science, I’ve never been more hopeful.

On April 18th, my mom and I will be headed up to New York City to meet with specialists at both Stony Brook University Hospital and Mount Sinai. In the last couple months, I’ve received so much support in terms of welcoming me to the rare disease community and helping prepare me for my trip. From doctors at the National Institutes of Health (NIH) to current rare disease patients— I couldn’t be more grateful. The fear of the unknown is quickly catching up as everything is starting to feel very real, but I’m hopeful for what’s coming and can’t wait to finally be there.

It’s taken 23 years to get me to this moment, and now is right on time. Thank you for all the love, support and well wishes. It means the world to me.