Almost there..

The evil spell

In the beginning of 2014 Nick, a 4 years kid who has been friend with Sofia since a while, approached her mum and asked her: “Mummy, why is it that Sofia doesn’t talk to me? Why is it that she doesn’t want to play with me? What happened? What did I do?” His mummy was taken by surprise and, at first, didn’t know what to say, then she answered: “My dear, it is difficult to explain: it isn’t your fault and definitely she’s not angry with you. Let us say that, unfortunately, all of this is happening because of an evil spell, like in a sad fairy tale”. Once he understood that explanation, Nick opened his eyes wide, ran to Sofia, hugged her and gave her a big kiss on her cheek. Then, he turned back, looked at mummy and said: “Mum, in this case I want to be the Prince who breaks the evil spell with a kiss to my princess Sofia!!”

Sofia cannot talk but she strives to communicate. She cannot use her hands to play with any toy, but she loves social exposure to her peers. She can’t run, crawl or walk up or down the stairs, but she loves cruising around curious about the world. She’s as smart as a girl of her age could be: she can distinguish a zebra from a horse, a circle from a square, she can match colors, she’s learning numbers and understands both Italian and English!

Despite all the challenges of the disease, “Rett girls”, as we call them, have indeed thoughts, emotions, knowledge, desires, tastes, interests, passions and preferences, as anyone else: they are normal girls trapped in a body not responding to their intentions.

Can you think of anything more evil than this spell?

The kiss of the Prince

Well.. the kiss of the Prince, dear friends, will happen. It will be the kiss of Scientific Research. And the Prince’s lips are almost brushing Sofia’s cheek: in 2007 cutting edge researchers gave proof of concept that Rett Syndrome symptoms could be completely reversed provided that “some way” could be found to repair the faulty MECP2 gene, responsible for the disease. In 2013 a way to repair the mutated gene was found, and Rett Syndrome was almost completely cured in animal models, actually in mice.

We are almost there!! However, turning a lab experiment for Minnie and Mickey Mouse, whom Sofia loves so much, into an effective and safe cure for “Rett girls” will take some more research. It is just a matter of time, but a cure for Rett Syndrome will be soon available. How soon? Well… this depends only on how much funding will be made available for researchers to complete their work.

Why research for Rett Syndrome needs funding

Unfortunately Rett Syndrome is a “rare disease”. Unfortunately cutting edge genetic research is expensive. Finding a cure for maybe 300’000 patients worldwide is something of no interest for the pharmaceutical industry. Big Pharma unfortunately will not invest in hunting for a cure for Rett Syndrome, as there are no billionaire profits down the road. This is why this research will have to rely on institutional and mostly private funds, raised through fundraising initiatives and charity organizations, like “One day Sofia…”.