Our Story
June 25, 2023, marked the arrival of our son, Walther Honoré-Hammer, a beautiful baby boy with a hidden genetic twist that would soon send our family on a rollercoaster ride through the world of rare diseases.
From the moment Walther opened his eyes, Cecilie and I knew something was amiss. we noticed something peculiar—two tiny white spots marring the dark depths of his gaze. The pediatrician was equally perplexed. ”Is he blind?” I asked. “Perhaps. I am not sure” he immediately responded while leaving the room.
Little did we know, this was merely the beginning of a long and arduous journey.
As the weeks passed, Walther's blood tests revealed more plot twists than a daytime soap opera. High calcium levels led to frequent hospital visits and low hemoglobin required enough blood transfusions to make a vampire blush. We became all too familiar with the sterile hallways and beeping machines echoing in hospitals, with a standing appointment for twice-weekly blood draws. "We were starting to think they might name a wing after us," Cecilie joked, trying to keep our spirits afloat.
Just when we thought we had endured every possible medical curveball, Walther's health took a nosedive, landing him back in the hospital for yet another round of transfusions and treatments. Fear became our constant companion as we watched our boy battle an unknown foe. It was during this terrifying chapter that genetic test results finally provided a diagnosis: Lowe syndrome, a rare disorder caused by a single misspelling in Walther's genetic instruction manual.
Cecilie and I grappled with the enormity of the situation. Lowe syndrome, we learned, was a multi-system disorder with no known cure. It affects the brain, eyes and kidneys. Our nephrologist's words still echo in my mind: "I am sorry, there is nothing we can do for Walther other than supplementing him with what his kidneys are leaking." At that moment, despair threatened to overwhelm us.
In the depths of our despair, I made a vow: "There's got to be a way. Science has come so far; we just need to find the right cheat code." This promise became our North Star, guiding us through the labyrinth of medical research. And we went through many steps. From AI-powered drug discovery to repurposing existing medications, we left no stone unturned, no matter how obscure or seemingly absurd. I completely immersed myself in the intricacies of molecular biology and in silico computational methods to drug discovery, desperate to understand the very essence of Walther's condition.
Our quest led us to forge alliances with brilliant minds across the globe, from the halls of Cambridge to the labs of Purdue and to the sun-drenched streets of Naples. Ultimately, It was the story of Terry Pirovolakis, a determined Canadian father who developed a gene therapy for his son's rare disorder, that paved the feasible way for us. "If Terry can do it, so can we," I declared, though the true weight of that statement had yet to dawn on me.
Armed with newfound knowledge and a hefty dose of determination, I embarked on a week long research binge, fueled by copious amounts of coffee and a refusal to let genetics have the last laugh.
What I uncovered was both exhilarating and daunting: Lowe syndrome was caused by a single gene, OCRL, which had been identified and was small enough to potentially fit inside an AAV capsid—a tiny, virus-like particle that could deliver the corrected gene to Walther's cells.
Moreover, researchers had already developed mouse and zebrafish models of the disease and conducted a natural history study, laying the groundwork for future therapies.
My conclusion was that Lowe Syndrome could potentially be corrected using gene therapy. The catch? Developing a therapy is really expensive and delivering the functional gene to all the affected tissues was like trying to mail a letter to every house in the world, without knowing any addresses.
Some might rightfully so be deterred by that. I vividly asking my psychiatrist Cecilie and I were seeing at that time to cope with the impressions “Am I going mad?”. Yet, Cecilie and I set out to assemble a team of scientists, doctors, and advocates, all united by the common goal of outsmarting Lowe syndrome. From world-renowned researchers to industry trailblazers, we recruited the best and the brightest, creating a veritable Justice League in the fight against Lowe Syndrome.
As we stand on the brink of this monumental endeavor, Cecilie and I draw strength from the incredible network we've built and the love that binds our family together. We know the road ahead is long and winding, filled with obstacles and plot twists, but we remain undaunted. "After all," Cecilie reminds me "we've already proven that we're experts at navigating life's curveballs."
So, dear reader, if you've made it this far, I implore you: help me deliver on my vow to my family.
Your donation fuels the breakthrough.
Oh, and about the psychiatrist? Well, they were unsure about whether I was mad. I guess we'll just have to wait and see.