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.

My Mom died on a Saturday night. At the time I realized my nightmare was in fact coming true I was standing in my kitchen cracking eggs. I left her side for the first time in six days to come home and cook for us both. She insisted I leave - maybe she knew.

My son is my sunshine in every way. He inspires my own fight for better health and gives me hope for a brighter future. He brings laughter and music and play to our lives daily. And in the challenging moments he has taught me lessons on life and love and what things are truly important.

Three years ago when I stared in the mirror the face looking back at me was unrecognizable- swollen and puffy and what I now know is referred to as moon face. My body was similarly swollen and most days I looked like I was seven months pregnant, another classic symptom of Cushings Disease. Thanks to my years of steroid use I had medication induced Cushings which came with many side effects including, gaining 50 pounds, thinning hair and said moon face. And that was just what we could see on the outside.

I am rare, I am complicated, I live daily with more symptoms and issues than most can imagine.  And while some things may never make sense, I don’t give up, I always advocate for what I need, search long and hard for supportive providers and work daily to heal. I do not need to apologize to anyone--for my diseases- for the challenges I face - not to any person and certainly any physician.

We spent Saturday morning celebrating Adelaide's birthday with her family, the first since she had passed. Ladybugs and smiles abound though I have found moments since blinking away tears knowing this shouldn’t have to be this way. I’m not sure I’ll ever make peace with those I love dying because we did not know what to do to keep them alive. Nor do I ever have a day go by without thinking about if I am doing enough to keep myself balanced as I wait for new treatments and cures.

Since my son was born we have decorated for all occasions and especially Halloween. As a 1-year-old he spent hours pulling down every decoration we hung then cried for us to re-hang it and this would continue for days on end. By 2.5 years old he would run around with streamers everywhere and many times he too ended up a decorated mess. And in the last few years, no matter the occasion, his first question always is when can we decorate?   Without fail by late September he's waiting daily for me to announce the day we will decorate for Halloween.

This week was my husband's birthday and we all had a chance to celebrate him- for all he is to us and all he brings to our life daily.  I think so often caregivers and especially spouses are forgotten in this rare disease life. Things that happen to me or our son impact him immensely but because he is not the patient the details of his own experience are often left unheard or known by many. 

On September 11, 2013, I met my mast cell physician who after 15 years of searching diagnosed me with my mast cell disease.  With my entire life making sense, and a doctor who gave me her time, her wisdom and support in front of me, I burst into tears hugging her.  Rare disease patients fight for the diagnosis- to have everything "make sense" and hopefully with it, there will be a clear treatment protocol to make it all go away. Unfortunately, after the years of searching, the victory parade of learning what is wrong with you is not always  met with music and balloons but instead  you are faced with losing your pre-diagnosis self.  In that first meeting, we spoke at length about the changes that I needed to make to my life that went beyond medications, (medications only can do so much-that is if anything at all) life-altering changes needed to regain control of my mast cells.

I remember the day vividly, my son had been in the NICU for only two weeks.  I had run home for a break and felt strongly that instead of "resting" as so many encouraged me to do that day, I had to go in to be with him.  I knew instantly  something was wrong - even though we had only known each other a few days I could still see something was off.  His nurse was new to him, though amazing and immediately took my concerns seriously.   Ultimately, he needed to switch back to stronger oxygen therapy.  I have no doubt this would have happened regardless of my presence but I know because I listened to my gut to go in he got the support he needed sooner and did not become exhausted. I remember my Mom telling me that night that I must always listen to my gut as it will guide me.

As the cooler temps arrive and I am seeing a few yellow leaves on the trees outside of our house I can feel Fall sneaking in. Time moves so strangely now. Days are so long but weeks fly by and in what feels like an instant the long summer day’s are winding down. I think we found summer amid the pandemic, at least we tried. And now we are again facing a new season, a new challenge to figure out our “pandemic normal” since sadly this is not fading away with the summer days.

I often find I have stretches of time where my health takes center stage and then I may have months it is just in a supporting role. I am sure that based on the last few weeks of my posts it is clear that my health is unfortunately the leading actor right now in my life.

A friend asked me this week what I worry most about from my disease. Is it the anaphylaxis? I explained it was sliding so far off my tight rope that I will not be able to get back up.  

This weekend as I walked in from an outdoor safe visit with friends I felt my slide begin. Nothing had changed or happened but my body was racing down the rollercoaster I didn’t even know I had reached the top of. I took my normal meds but could feel I was worsening. After waiting the 20 minutes for the medication to work, I could see I wasn’t improving fast enough to stop myself from a crash landing.

I often allude to the tight-rope rare disease patients must walk, trying to maintain a perfect balance of being able to keep our symptoms under some control to be able to function among the living.  Being both a rare disease patient and the mother of a child with multiple rare diseases I feel like every day I walk two tight ropes - working endlessly to keep us both afloat.