Simon

Name: Simon

Year of birth: 2017

Parents: Edith and Reinhard

Home Town & Country: Salzburg, Austria

 

A message from Simon`s parents:

Maybe you know the story written by Emily Perl Kingsley describing how it is to raise a child with a disabilityIt illustrates some of our feelings when our world was falling apart after receiving Simon`s MCOPS 12 diagnosis.

Our little one was a real fighter from the very beginning on: soon after birth he struggled with breathing problems and needed to stay in the intensive care unit for several weeks. During that time we also received the first crushing diagnosis that Simon has microphthalmia. However, the bad news continued when we were informed about the genetic test results in January 2018: a mutation in the RARB gene, a disease called MCOPS12. A disease so rare that no treatment and basically no information was available. A disease so rare that only two dozen of patients were diagnosed at that time. We knew so little but only that the prognosis would be bad. In those darkest days of our lives we could count on the support by family, good friends – and Simon, who motivated and inspired us with his everlasting cheerful character.

Although Simon is basically blind and not able to sit, walk or talk our journey with Simon has changed us in so many ways. He is our greatest teacher in keeping good mood and his joy of living is simply contagious. It seems he is the happiest boy alive when playing with his disco lights, listening to music or swimming in the water no matter how cool it is.

 

What are our dreams for Simon?

We want our little sunshine to live a happy and independent life.

Therefore, we need to transform the impossible into the possible and find a therapy for him and all other MCOPS12 patients.