What My Child's Rare Disease Diagnosis Taught Me About Embracing the Small Moments

White matter clinic appointments feel the most complex and exhausting appointments we have in this family. These appointments have multiple specialists in and out in a short period of time with an overwhelming load of information and recommendations. So on December 6, 2019, when the genetics part team explained my child’s whole exome sequencing (WES) results, I am sure I missed some of what they said. I was surprised they found anything at all — we had already hit the “rare disease jackpot” several times in our home, and how many times can lightning strike in the same place? When the doctors said “TENM1 is a candidate gene that is technically a variant of unknown significance but will be a disease soon when current studies are published,” what did they mean? I remember them saying I was taking it “so well” and that “most parents cry,” to which I replied, “I thought it could be worse.” The doctors said it was possible that my child may not develop all of the listed symptoms, and I clung to their words.

A little over a year later, we were back in person for the first time since the pandemic with some new concerns. “We would expect that given how this gene works, symptoms would get more severe over time,” the doctor said. I asked no questions — I did not want answers. I remained calm until I reached the car, and I cried most of the way home as my mind exploded with “what ifs.” Then I decided the doctors were all wrong. For the next year, I remained in full denial with the shadow of that conversation looming behind me.

Eventually, perhaps through connecting with others in similar circumstances, I began to accept my child’s reality. I do not have to accept that the disease will get “worse” with time, but I accept that the future is unknown and that there are no guarantees.

I now embrace moments with every emotion I have. 

My life is bouncing in muddy puddles with my child, snuggling, going on stroller walks, reading books, singing “The Itsy Bitsy Spider,” playing peek-a-boo a thousand times in a row, and etching the most beautiful laugh into my soul. It is the joy, sadness, love, mess, warmth, and energy I gain from tiny moments. It is being present. It is life. 

None of us knows for sure what the future holds. The best gift we can give ourselves is to live and love each moment to the fullest, allow the clock to stand still, pause our busy lives, and just be. A few days ago as I ran, I found myself stopping mid-run to smell the honeysuckle. I took a moment to enjoy a small thing in life that I have passed by more days than not. How often do we pass moments by without taking the time to notice them?

The uncertainty of rare disease is teaching me to pause and embrace every moment.

I challenge you to pick a favorite memory or two from childhood. How extravagant were those memories? Mine are drinking Slurpees with my dad and searching for bugs with my mom. My childhood was full of adventures — more than most children — yet my most cherished memories are of the smallest moments.

It can be easy to drift into the “what ifs” over an uncertain future, and it can make a parent feel the need to fill life with every adventure. Adventure is great, but embracing the small moments is enough. You are enough.