Together, we can make a difference for children like Milo.

Spastic Ataxia Type 5 (SPAX5) is an ultra-rare disease that profoundly impacts the lives of a small number of individuals, including Milo, our courageous little fighter. Caused by autosomal recessive mutations in the AFG3L2 gene, SPAX5 leads to progressive neurodegeneration and significant challenges.

Imagine the heartbreak of watching your infant struggle to reach developmental milestones. The worry and daily effort to help them achieve basic skills that come naturally to others—holding their head up, rolling over, sitting independently, crawling, walking. Milo's journey has been a constant battle, as we initially hoped intense therapy and hard work would bridge the gap. But instead, we have witnessed him slowly lose the hard-earned milestones he once achieved.

He used to explore the house, confidently moving with an army crawl and playing on his tummy. As a mother, it's heartbreaking to watch my three-year-old lose those abilities. His speech, once filled with meaningful words, has dwindled. The progression of his disease is both slow and yet relentless, something we often associate with conditions like Parkinson's or Muscular Dystrophy. But unlike those who have lived full lives, Milo and children like him face the burden of neurodegenerative mitochondrial diseases at such a young age.

As time passes, we are reminded of the relentless progression of SPAX5 as we witness the increase and intensity in Milo's symptoms. Tremors and myoclonic seizures have become an ever-present part of his daily battle. Each regression in his abilities serves as a constant reminder of the urgent need to act swiftly and change the outcome for Milo, and young children like him.

Time is limited, and our race for a cure is urgent. We must work collectively to support solutions for SPAX5. Every dollar contributed to this platform is dedicated to funding vital research, accelerating the development of targeted treatments, and advancing gene therapies.

Join us in making a difference. Together, we can bring hope, extend precious moments, and ultimately find a cure for children like Milo..