The story of Edith and Reinhard
Hi everyone,
We are Edith and Reinhard, and the parents of Simon who is a 3.5-year-old boy affected by an ultra-rare neurological disease called MCOPS12. It is caused by a mutation in the RARB gene leading to microphthalmia, cognitive impairment and severe movement disorders. Until now, only 50 patients have been diagnosed worldwide and no medical treatment is available.
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 he is sitting on his swing, 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.
Please support us in our mission and have a look at https://rarbmutation.orgÂ
Best regards,Â
Edith and Reinhard