In the grand cosmic lottery of life, the odds of drawing the Lowe syndrome card are astronomically small. It's a one-in-a-million kind of small. So small, in fact, that if you put the probability into a calculator, it will return a zero. The kind of small that makes you question the fairness of the universe.

But for our son Walther, and the 400 million people worldwide living with rare diseases, those impossible odds are their reality. Walther was born with an ultra-rare condition called Lowe syndrome, caused by a tiny mutation in his OCRL gene. This single genetic change means he's set to embark on a life-long odyssey of visual impairment, kidney dysfunction, muscle weakness, bone disorders and learning difficulties. Yet, there is no treatment and no cure.

But we choose not to accept this fate. We have found a path to curing the incurable.

Becoming accidental experts in a disease you've never heard of is a crash course in resilience. As Walther's parents, we've been tossed into a world of medical rabbit holes, hospital marathons, and emotional roller coasters. But amidst the chaos, we've discovered wells of strength, love, and resolve we never knew we had.

So, who are we? We are just a couple of curious minds who refuse to take no for an answer.  Sebastian brings his analytical mindset and research skills to unraveling the complexities of Lowe syndrome, while Cecilie's medical background as a nurse provides crucial insights into Walther's daily care. Together, we've transformed our parental determination into a focused mission to change our son's future.

We've immersed ourselves in the science of rare diseases, building a global network of leading researchers, clinicians, and families united by a common cause. This powerful collaboration of scientific expertise, coupled with our unwavering drive as parents, fuels our approach to finding a cure. We're not just hopeful observers - we're active participants in the race against time, combining rigorous research with the fierce urgency that only parents can bring to this mission.

So, what have we learned along our journey?  We've discovered that Walther was born in an era of unprecedented medical breakthroughs. Gene therapy has emerged as a powerful science capable of targeting and correcting faulty genes at the root cause of diseases. The science is poised to cure what was once considered incurable.

Yet there's a critical gap: ultra-rare diseases like Lowe syndrome are often neglected by the pharmaceutical industry, which sees little financial incentive to invest in treatments for such small patient populations. Public research funding is also scarce, as these conditions fall through the cracks of most grant programs.

But we have a plan, and it's already showing promise. Our research team has demonstrated efficacy in treating Lowe syndrome in mouse models, specifically targeting the eyes - one of the three central organs affected by this condition. This isn't just a breakthrough for eye therapy; it's proof that we can develop treatments for the brain and kidneys as well.

If we can crack this code, we won't just be changing the game for Walther and his fellows. We'll be sketching a blueprint for tackling thousands of other rare genetic puzzles - a template for bespoke gene therapies that could rewrite millions of destinies. 

The science has proven we can change the destiny for Walther and all the other children affected by Lowe syndrome. We just need to do it. Every day counts. Every contribution matters. Every child deserves a chance at a cure.

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