February is Rare Disease Awareness Month, a time dedicated to shedding light on conditions that often go unnoticed. For families like Braylynn's, every day is rare disease awareness day. This is their story—Braylynn’s story—one of resilience, heartbreak, and unwavering hope.
A Perfect Beginning
When I was pregnant with Braylynn, everything was perfect. No complications, no warning signs—just the joy and anticipation of welcoming our baby girl into the world. On April 8, 2023, after a smooth six-hour labor, she arrived. I heard her beautiful cry, held her close, and fed her for the first time. She was perfect. But within hours, subtle signs began to emerge.
She was always sleeping, rarely opening her eyes, and struggling to eat. Doctors reassured us that she was just a tired baby, but my mother’s intuition told me something was wrong. Four days later, my world shattered.
A Life-Changing Moment
On the morning of April 12, 2023, Braylynn wouldn’t wake up. She wasn’t eating, and her tiny body barely drew breath.
Panic took over. I didn’t have time to wait for an ambulance. We wrapped her up and raced to the nearest ER, just three minutes away. As I ran through the doors, she stopped breathing in my arms.
Doctors acted fast, intubating her and stabilizing her just long enough for the Life Flight team to rush her to the nearest children’s hospital. Our battle with Non-Ketotic Hyperglycinemia (NKH) had begun, though we didn’t yet know its name.
The Diagnosis We Never Expected
The doctors were at a loss. Despite running every test imaginable, they couldn’t determine what was wrong. She lay there, intubated but unsedated, motionless. We clung to hope, waiting for an answer.
Then came the Whole Genome Sequencing test, an exhaustive genetic analysis. On April 17, 2023, we got the results: Non-Ketotic Hyperglycinemia—a rare, genetic metabolic disorder.
The doctors gave us one option: remove her from life support and let her go. They told us she wouldn’t live past a week.
But I knew my girl wasn’t done fighting.
A Miracle Unfolds
We started her on Sodium Benzoate and Methionine, along with seizure medications. Within 48 hours, something incredible happened—she opened her eyes. For the first time, I saw those beautiful blue eyes looking back at me. She wiggled, she moved, she fought.
After 23 days, we removed her breathing tube. She was thriving. She sucked on her pacifier and showed hunger cues. Though she failed her swallow study and needed an NG tube, she was alive.
The Challenges We Face
At three months old, Braylynn had her first seizure in my arms. Since then, she has been diagnosed with Cerebral Palsy, Hypotonia, Delayed Visual Maturation, Delayed Gastric Emptying, Dysphasia, Refractory Epilepsy, and Global Developmental Delay, in addition to NKH.
She fights daily. Three to five seizures a day, despite four seizure medications. We celebrate the small victories—rolling over, lifting her head, recognizing faces, smiling, and standing with support. Things doctors told us she would never do.
A Community of Warriors
This life is unpredictable, filled with heartbreak and triumph. But through it all, we have found an incredible community. Families who “get it.” Friends who cheer us on. Strangers who have become family.
We fight for research. We fight for awareness. We fight for a cure.
February is Rare Disease Awareness Month. This month—and every month—we honor Braylynn and all the other NKH warriors.
Join us in spreading awareness. Share our story. Donate to research. Support families like ours.
Because one day, we hope to tell a different story—one where NKH has a cure.
-Caitlin Flinders, Braylynn's mom and fiercest advocate
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