Crowdfunding for Cures: Rare disease parents at the forefront of drug development

Imagine a world where the infectious giggles of a child chasing butterflies are replaced by the suffocating stillness of a stolen childhood. This is the harsh reality for my son, Milo, and less than 30 documented cases globally, diagnosed with Spastic Ataxia Type 5 (SPAX5), an ultra-rare neurodegenerative mitochondrial disease. This thief of a disease doesn't just steal motor skills and speech; it robs the very essence of childhood, snatching away laughter, dreams whispered at bedtime, and the first wobbly steps that mark a life unfolding.

Instead of the triumphant pitter-patter of first steps, Milo's journey began with subtle signs of struggle. He called me "Mama" and spoke with excitement about "bubbles,” exploring his environment with curiosity. Then his right eyelid drooped. Feeding became a challenge, and torticollis restricted his neck movement. By six months, we noticed significant muscle weakness, or hypotonia. Preliminary tests provided no answers, leaving us adrift in a sea of unknowns. “Give him some time,” “Don’t worry he will catch-up,” and “See you in six months,” were the refrain from clinicians, friends and family. Milo has an older sister who developed typically, and we could tell how much he struggled by comparison. So we continued to push for further testing all the while clinging to the hope that at some point, somehow, Milo would surpass these initial setbacks.

Our search for answers became a relentless fight through countless tests, specialists, and dead ends. When the radiologist's report came back with abnormal results and words I didn’t recognize: “bilateral T2 hyperintensities" and a recommendation to “exclude inborn errors of metabolism," it felt like a terrifying glimpse into the unknown. I spent countless nights scouring research papers, connecting with parents in Facebook groups for people with similar stories, hunting for anything that might offer a lead to the doctors. I'd suggest tests, only to be met with skepticism or outright dismissed. It felt like my husband and I were the only ones invested in solving this puzzle.

Now, after Milo’s SPAX5 diagnosis, we’re stuck in a cycle of symptom management. It's left to parents like me to become amateur scientists, searching alone for solutions beyond simply giving him sedatives or installing a feeding tube. Funding for SPAX5 research is scarce, since clinical trials require a large patient population, and many unconventional options have been labeled 'not evidence-based' simply because the patient sample size for SPAX5, with less than 30 documented cases globally, is too small to generate the data the system demands. But without the chance to experiment, we will never be able to gather evidence for potential treatments. We’re left with a stark choice: watch our son fade away or become warriors in his fight.

And so, we’ve become warriors. We’ve delved into scientific journals, connected with researchers across the globe, and embarked on the enormous endeavor of crowdfunding a cure for our son. The journey has been fraught with challenges, both logistical and emotional. But within this struggle, a truth emerged: parents like me aren’t victims, we are catalysts. We are filling the gaps, pushing boundaries, and demanding change.

Milo’s story is not unique. It's a microcosm of the struggle facing countless families in the rare disease community. But amidst the despair, there's a flicker of possibility. Precision medicine offers a glimmer of  hope for tailoring treatments to individual genetic profiles, a potential game-changer for ultra-rare diseases, like SPAX5. However, this light remains dim without collaboration. We need researchers who see us not as statistics, but as partners in the fight. We need drug developers willing to take calculated risks beyond their bottomline, and policymakers who create an environment that fosters innovation, not stifles it. 

Two drugs, Ceftriaxone and Sephin1, have shown promising results in SPAX5 mouse models and could offer immediate relief for Milo. However, bureaucratic hurdles currently prevent him from accessing these treatments, leaving us frustrated and desperate. But we refuse to give up. We will fight tooth and nail, explore every avenue, and leverage every resource at our disposal to give Milo a chance.

Today, I face the heartbreaking reality of watching Milo’s disease progress, leaving him trapped in a body that doesn't obey, unable to express his needs or enjoy the simplest pleasures. He needs constant care, as his body twitches with involuntary movements and he struggles to swallow. Every trip to the grocery store is a reminder of the days when Milo could savor the taste of yogurt, or quench his thirst with water, rather than relying on his gastrostomy feeding tube.

This is a call to action. To researchers, I say: open your doors to the unique challenges of ultra-rare diseases like SPAX5. To drug developers, I say: see us not as statistics, but as partners in the fight for a cure. To policymakers, I say: create an environment that fosters innovation and collaboration rather than stifles it. And to everyone reading this, I say: join us.

On Rare Disease Day this February 29th, please raise awareness, support research, and demand change. Together, let's rewrite the narrative for children like Milo, ensuring that their stolen moments become seeds of hope for a brighter future. Learn more, spread the word, and make a contribution at www.MightyMilo.org.