Rare Disease Day 2016

Happy Rare Disease Day! Please wear jeans today to raise awareness.

Because I can’t. I cannot fit in any of my jeans at the moment, thanks to prednisone. Even if I could fit, it’s unclear if my skin would tolerate it. Yes, I am now “allergic” to many of my clothes.

On my first post-diagnosis Rare Disease Day, this is what it means to me to be one of the rarities:

I am a guinea pig. It is scary, isolating, and frustrating.rdd-logo

I am a research participant in pioneer studies – that are underfunded, primarily with philanthropy.

I don’t have adequate medical care. It’s typical to wait three to six months to see a doctor who understands my disease. And money always is a factor.

I carry emergency protocol with me at all times, because most ERs are unfamiliar with my disease and how to treat the life-threatening reactions it causes.

I am one of the lucky ones. I have a diagnosis. I am fortunate to have ping-ponged my way to a world-renowned specialist after decades of suffering. My diagnosis unlocked years of validation.

Today is hard and tomorrow will be hard. Everyday, I try to adjust to this purgatory, as I wait for better understanding of the disease and treatments.

However, I have hope that someday it will get a little easier. In the meantime, I am thankful for the support I receive at home and through the rare disease community.

This post appeared on The Mighty on Rare Disease Day. 

Long story short

IMG_4911

That moment you’re so bored in another exam room that you realize your outfit matches the table and you probably need more color in your life.

One year ago, I fell down the rabbit hole that is chronic illness. Well, literally, I fell down the stairs. I had been ignoring the pain and weakness in my legs for a couple weeks, attributing it to too much yoga. The embarrassment of falling finally prompted me to acknowledge “this isn’t normal”.  I scheduled a primary care appointment, assuming I was vitamin deficient in some area. [Insert laughter followed by sigh of resignation here.]

For the next twelve months, I was ambushed by new, debilitating symptoms each week. Sensations I couldn’t previously fathom. I am still haunted by memories of March, when I temporarily lost my ability to walk, and consequently, my ability to care for myself. I was 28 and otherwise, at the height of my independence. I acquired eight specialists and drained my savings account riding the appointment merry-go-round. Although my doctors documented my suffering, they were reluctant to provide any treatment, since my symptoms didn’t align with any disease in their specialties. Some of my symptoms were described in my chart as “subjective”.

The day after the Labor Day, I received an unprompted phone call from one of my doctors. He had used the extra time from the three-day weekend to review my chart, and among other suggestions, he recommended I make an appointment with a mast cell specialist. I scheduled the appointment, but suppressed my hopes, especially since I would have to wait months to be seen.

On December 22, I was formally diagnosed with mast cell activation syndrome. In order to meet the criteria for MCAS, you need two abnormal lab results. I had five. (I have always been an overachiever.) I was overcome by a wave of validation. Countless extraordinary experiences dismissed by other doctors now had scientific explanations. My diagnosis has allowed me to shift my precious energy from pleading for help to healing myself.

I have spent the last few months not only fighting the disease, but also recovering from the damage of my journey. I lacked adequate medical care for too long, exhausting all my resources in the process. Until now, I subconsciously stifled all reflection, because I didn’t want undermine my fight for survival.

That’s my long story short. Thank you for reading my first post! What is your long story short? More entertaining posts to come.