Seeking a Cure for Simon

The story of Simon

When my wife Edith was pregnant with Simon, our first child, we were filled with joy and excitement for what was to come. That joy and utter happiness quickly turned to fear, panic, and a great big unknown. Immediately, after Simon was born in July 2017, he was taken to the intensive care unit and we received the heartbreaking news that our baby boy has microphthalmia and is blind.

After weeks of being in the hospital we finally were able to take Simon home. Pretty quickly after we had to acknowledge that Simon wasn’t moving around or exploring his environment like other babies his age. We knew in our gut that something was really wrong.

That’s when we took Simon to get genetic testing. We received the genetic test results in January 2018 – which told us that he has a mutation in the RARB gene, an ultra-rare disease called MCOPS12. All we knew was that less than 20 patients were diagnosed with this disease at the time and that there were no treatment options available. Our biggest concern was what does this mean for Simon and his future?

In that moment we made a vow that we would do whatever it takes to find a therapy and a cure for MCOPS12 – a severe, progressive, and debilitating neurological disease.

After personally contacting dozens of doctors and experts at universities and pharmaceutical industry we eventually managed to find three academic teams to help and have since conducted fundamental research on MCOPS12. However, after beginning their research they quickly surmised that the path to treatment would be a long and arduous journey.

That’s when we founded, in the summer of 2020, our non-profit organization, Cure MCOPS12 – as we knew that in order to have a fighting chance at a better and more independent life for Simon we would have to do so much more.

Which led us to our mission – to find a therapy and a cure for all MCOPS12 patients, to ensure a brighter and more independent life for Simon and others affected by this rare condition.