I always dreamed of being a Mom and for most of my childhood I was sure I would have four children- more than two but an even number for when we went to Disney World, obviously. Of course at the time our future dreams never included rare chronic diseases that force you to change your dreams. Nor was there a caution that life doesn't always go as you plan.

This year, after the year we have all survived, May Day felt especially sweet and important and once again very needed. I have been quiet for the last couple of weeks on the blog. Never quite sure what I was feeling mentally and physically so distracting myself from my thoughts felt easier than facing them. Riding the waves of my body post vaccine and also the stress of knowing the shot I received was paused four days after my injection left me with unexpected anxiety. Mindless games on my iphone or watching tv seemed safer than reflecting on my current state in writing. And once again my May Day planning was a way for me to get through these hard weeks- for me to focus on something other than how I felt or what stress I had in my life, and to simply focus on play!

As expected, the last few days have not been my best. My mast cells are angry and it may take a number of days or weeks for this flare to fully calm down. But I would do it all over again. The vaccine provides me safety while science is trying to catch up.

That is the thing about rare disease patients, our fight for a better life always requires us to walk into the unknown, to test new medications first and to volunteer for trials if it means we can advance care forward. We fight for science and research because that is our only hope for cures and better treatment options. And this is no different.

It takes on average of over seven years for rare disease patients to find the right practitioner and receive their diagnosis. I know many, including myself who have waited decades. I realize now that just like by definition a rare disease means fewer patients with a disease - there are similarly fewer physicians treating rare diseases. Unsurprisingly, treating the rare is not the easy path- but I have never met more inspiring and motivated people than those physicians that choose rare.

As people plan spring break trips I am still deciding if I have the courage to enter a small grocery store near me. My friends are excitedly registering their kids for camp as I sit confused and unsure of what feels right. I know it will not be long before invitations to weddings and birthday parties arrive and I can already sense my dread of how to decide what to do. Life in my bubble feels safe and easy but I know it is not living fully.

Thankfully, this year has also brought new knowledge as we are starting to have a better understanding of what COVID-19 is, how to prevent it and amazingly a vaccine. I am grateful for all of this and it does give me hope for our future. But I also know that we still have so much to learn about this virus and that this race is still not over. I am shocked that mask mandates are being removed this week and that people view their vaccine as an invitation to live completely normal again. One day, I do hope that is what it means, but until the majority have the vaccine our behaviors still matter.

Today is Rare Disease Day! Rare by definition means “not occurring very often and not in large numbers.” And yet on this day when you bring all of the rare diseases together we are many- hundreds of millions of patients, caregivers, practitioners, families and friends. Our voices united are stronger and on this day I am always overwhelmed with a sense of pride to be a part of this community.

The work of the rare disease community is what gives me hope for my future, for my son’s future. It is what challenges me to be vulnerable and to never stop sharing my story-showing my stripes and making my invisible diseases visible.

I have been thinking a lot about how I often compare my life to a roller coaster ride - riding the ups and downs of what any day will bring. Except this week it struck me that there is no end to the ride. Chronic by definition means "persisting for a long time" or "constantly recurring." It feels weird not to have a final destination. Yes, I realize the obvious, I am trying to get to better health- maybe one day a cure though I don't think that is how chronic diseases work. Cures are hard to come by so yes balancing as much as I can is the goal. But am I ever going to be done having to work on my healing?

Since getting sick I truly have come to understand that I can never predict what tomorrow will bring. A lesson I think the pandemic is now teaching the world. It is for this reason I try so hard to be present and grateful for each day and especially for the time I have with my family and friends. Except I realize recently I am struggling with this.

So as long and as cold as the winter days feel, as exhausting as it seems to have no childcare reprieve and as much as we are all missing being with family and friends and living freely, I do know this is just a moment in time. And I know it is no different then other hard moments in time I have lived through. But as my Mom always reminded me, the way we get through these harder days is largely up to us. I remind myself I do actually have some control in this impossible time, I have a choice in how to react and respond to things and that the same lessons she taught me can and will be learned by my son.

A shining light for the world is the vaccine and a chance at eradicating this virus. I too am thrilled people are being vaccinated and we are on our way to a safer future. But as I watch many friends and relatives schedule their appointments and get their vaccines, our shared reality is slipping away and I can see how easily I will be left behind.

2020 was the year the entire world was given a rare disease. Everyone forced to without warning go inside- forced to wait for science to begin to understand what this virus was. Our entire world was flipped upside down - not knowing what was safe to do in our daily routine, who we could see, and where we could go. Too many patients have died and continue to die waiting for science to catch up to save them. And those that have been lucky enough to recover may forever be impacted by the lasting effects of this devastating virus.

In the Spring of 2019 I spent 6 hours at my mast cell doctor's office trying to get an IV iron infusion to begin to correct the severe anemia I had recently discovered. It took over an hour and five attempts to get just the IV started and that was only the first hurdle. Over the next five hours while my body thankfully accepted fluids it rejected everything else. I even reacted to IV Benadryl, something that normally rescues me in a reaction. Needless to say I left defeated without much iron in me and I then spent the next 36 hours in an almost constant state of reaction as my body calmed down from my trial. I remember saying to my doctor before leaving, "I truly can't escape myself” as I felt an overwhelming sense of hopelessness that I would never be able to find a resolution to my problem.

While the last nine months have been more challenging than we could have imagined we found ways to “live” outside safely- to see family and friends and even some days find adventures. As we are forced inside I am having a hard time accepting again a shift in our normal back to a more isolated lifestyle- to lose the outlet we all need. I trust like every other shift we will find our way but the next two months feel daunting at best.

My doctor and I communicated daily - “I think your having a large inflammatory response.” “Me? How could that be?” I would quip back sarcastically. This really shouldn’t be a surprise to me but in many ways it was. And so I’ve taken each day as it comes and sometimes even each hour

As I walked into Cornell hospital Tuesday so many emotions came rushing back - in total between myself and my son we’ve spent nearly 75 nights in this hospital and way too many appointments and ER trips to count. In many ways it’s oddly comforting to walk in somewhere so familiar even if it is a hospital. I was arriving for pre-surgical testing for my procedure I would have Thursday. Preparing for the surgery is no small feat. In addition to the surgeon it required input from two mast cell physicians and my hematologist each weighing in on what needed to happen to keep me safe.

Of course as the weekend approached this year we all had different feelings. The world for the first time experienced what so many rare disease patients must always choose- being safe and putting their health first which means so often missing out on a celebration the way they are used to- a choice I was forced to make years ago when I could no longer travel and be with my entire extended family.

“Are you in pain?” a new physician asked me last week. I didn’t even know how to answer, I paused and said, “ I honestly don’t know. I think I always am?” My mind flipped through my day so far and there were too many moments of discomfort to count. I could barely stand that morning when I got out of bed as every inch of me was sore, bending down to get something from the dishwasher made me almost keel over from dizziness and my head was pounding after 6 hours of phone calls for work. But is it weird that until intentionally thinking about this I had already forgotten those moments? Instead, I was distracted by the never-ending ringing phone, the dinner I had to cook and homework my first grader still needed help with.