Rare Disease Day is a time to shed light on the challenges faced by individuals and families battling rare conditions. Today, we share the inspiring story of, Luka, a courageous 2.5-year-old boy living with Nonketotic Hyperglycinemia (NKH). His journey is one of resilience, love, and unwavering strength.
The Beginning of Luka’s Fight
When I gave birth to Luka, I expected to welcome a healthy baby into our lives. We had chosen to keep his sex a surprise, and I was overjoyed to learn I had another son. However, my joy quickly turned to concern when Luka never woke up, ate, or cried after birth. Despite reassurances that this was normal, we were sent home with syringes to feed him.
At just three days old, Luka’s condition took a critical turn, and we almost lost him. Yet, he fought on. Doctors initially diagnosed him with Hypoxic-Ischemic Encephalopathy (HIE), attributing it to a birth accident. Given a grim prognosis, we made the heartbreaking decision to remove life support at one month old. But Luka wasn’t finished fighting. He defied expectations, survived, and began a journey filled with immense challenges and triumphs.
The Diagnosis That Changed Everything
For a year, we navigated a sea of uncertainty. Despite being placed on medications to manage seizures, his condition remained difficult to understand. Finally, after months of searching for answers, we received the correct diagnosis: NKH.
At this point, he had already been on Vigabatrin and Valproic Acid for months—medications that, unbeknownst to us, were worsening his condition.
Once Luka was switched to the appropriate medications and removed from the harmful ones, his life began to change. His personality started to shine through, and I grew to love him in ways I never imagined possible.
A Life of Love and Dedication
Luka's journey has transformed me into more than just a mom. I am his full-time nurse, caregiver, physical therapist, occupational therapist, pharmacist, and so much more. While I wouldn’t trade this experience for anything, I wish I had been prepared for the realities of NKH instead of being blindsided by its challenges.
Despite everything, Luka continues to be brave, strong, and the hero of our lives.
His story is a testament to the resilience of children with NKH and the dedication of the families who fight alongside them.
We are determined not to stop until there is a cure for NKH.
Thank you, Luka, for being our hero.
-Shannon Seymour, Luka's mom and fiercest advocate
Important Information About Vigabatrin and Valproic Acid
Vigabatrin and Valproic Acid are medications that are particularly dangerous for children with NKH because they can significantly raise glycine to life-threatening levels. NKH is characterized by an excess of glycine in the brain, and these drugs exacerbate this condition, potentially leading to increased seizures, developmental regression, and even fatal outcomes.
An accurate and timely diagnosis is critical for children with NKH, as it ensures they receive the safest and most effective treatments from the very beginning. Delayed or incorrect diagnoses can lead to the administration of harmful medications, worsening the condition and putting their lives at risk. Raising awareness among both families and medical professionals is essential to preventing unnecessary harm and improving outcomes for children like Luka. Click Here to download a list of "No-No" medications for children with NKH.
Join the Fight to Cure NKH
Luka’s story is just one of many, and it highlights the urgent need for continued research and awareness. NKH Crusaders is dedicated to spreading knowledge, supporting affected families, and funding research for a cure. Join us in advocating for children like Luka and working toward a future without NKH. Share your personal journey with NKH, Click here.
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