Beyond the Diagnosis: Finding Hope and Miracles in Everyday Moments

Rare Disease Day 2025 

By Keri Ninness 

Our beloved boy with a rare disease will be 13 this year. It’s been 9 years since I fell to the floor of our preschool bathroom during a call from Emory genetics. That first mystery was solved, yet so many lay lurking, usually presenting right when we feel we have a good handle on things. 
 
Those early years were consumed with accessing every therapy and resource available. We spent hours in the car each week and tens of thousands of dollars on doctors, specialists, physical, occupational, speech, and behavioral therapy. Thomas’s younger siblings learned to crawl on therapy waiting room floors.  

After 11 years, Thomas has graduated from all therapies. He defied what that first (unkind, pessimistic, short sighted…) developmental pediatrician predicted. He did, in fact, learn to walk, talk, jump, learn. And he did so much more. 
 
Thomas learned to ride a bike. He learned to swim. He learned to run and play flag football and basketball and frisbee golf. He learned to play ping pong and memorize Spanish vocabulary words and knows every part and detail of the Mass in our Catholic faith. He just made A/B honor roll in 6th grade. He has made friends who knock on our door for him to play and knows more about college football and major league baseball than most adults. 
 
Those who walk alongside our family know that he has very, very hard days. Out of respect for him, I won’t elaborate on what hard looks like. But suffice it to say, it is a hard that no one would ever wish for their child or their family. He suffers. We suffer. Rare disease is unrelenting, unpredictable. Many days it is undeniable agony.  

And yet. If choosing Thomas means choosing Okur-Chung Neurodevelopmental Syndrome, we choose it every, single minute. He asked me one day if I wished he didn’t have OCNDS and was surprised when I said I did not wish this hard, hard disease away. Because the day I saw that child learn to swim after YEARS of him playing on the side of the pool while his same age peers played sharks and minnows in the deep end? That day I watched a miracle. And the day he finally stepped off the curb of First Presbyterian Weekday school after insisting on practicing every day for years? another miracle. And watching him walk across a stage today earning honor roll in 6th grade- two of those grades being in honors level classes? Miracle. People go lifetimes never having the honor and privilege to witness even one. Our family watches them over and over and over again. 
 
These precious, innocent, wanted, valued, beloved children miraculously climb invisible mountains every day. To the families and caregivers, maybe your miracle was a first word after years of speech therapy. Maybe it was your child making their first real friend. Maybe it was a day without horrible dysregulation or a medical event. Maybe it was the look in their eyes as you put them to sleep that let you know they see all your work and all your fears and all your silently shed tears. There is so much hard to navigating life for and with a child with rare disease. But there are also constant miracles, glimmers of hope and joy. Noticing those, honoring those, will be the fuel you need to help your babe and your family climb that next mountain. You are doing SUCH a good work fighting for them, with them, and yes, sometimes even against them. Your child is a miracle, but so are you.  

To the doctors and scientists studying the CSNK2A1 gene, thank you for using your gifts to help our son. Please keep learning.  To the members of the CSNK2A1 foundation, we are endlessly grateful for your tireless commitment and perseverance in this fight. To the PTs, OTs, SLPs, special education teachers and mainstream teachers who put in extra work for our son, you are the real heroes in our story. To Mary Kate, Timothy, Elizabeth and Baby David, your love for your brother and resulting compassion for others is my life’s joy to see. To Ross, your constant pursuit of your son’s heart is your most attractive quality. And to Thomas. OCNDS is a miniscule part of you. We acknowledge it on rare disease day and will treat you to chick-fil-a fries. But then we go back to living life. You’ll take out the recycling and read your brother a bedtime story and bore us at the dinner table with stats on University of South Carolina defensive ends. Besides wanting you to put your 18th pair of crocs in the actual shoe bin, we don’t wish for a single thing different. Our life with you is a gift and a joy. Thank you for fighting battles we can’t even see every day. You are a miracle.