1st Annual Blue Sky Girls seminar: To raise awareness about Rett Syndrome

On October 15th 2011, Rett Syndrome Pakistan in collaboration with Karachi Club’s Health & Fitness committee, hosted the 1st Annual Blue Sky Girls international event to spread awareness about Rett Syndrome. Blue Sky Girls was an international event which happened simultaneously across 7 countries of the world, and countless cities. This event was organized by Sana Kashif, whose non-profit organization, Rett Syndrome Pakistan, aims at raising awareness of Rett Syndrome, a rare genetic neuro developmental disorder. Rett Syndrome Pakistan celebrated their first Blue Sky Girl’s event in honor of girls with Rett Syndrome, the Silent Angels whose minds are developed normally, except they are trapped inside their body and have little or no control motor control. Every two hours, a girl comes into the world with Rett Syndrome and 1 in 10,000 girls has Rett Syndrome. The idea behind the Blue Sky Girls event was designed to increase awareness, to spread knowledge about Rett Syndrome so that these girls are diagnosed correctly and hence, their condition managed properly.

The event hosted a variety of people from all walks of life. Doctors, medical students, psychology students, speech and occupational therapists, special educators and anyone who felt a need to educate themselves about Rett Syndrome filled up the room. The guest of honor was Dr. Bushra Afroze, Consultant Pediatrician, Clinical Geneticist, Assistant Professor of the Department of Pediatrics and Child Health at the Aga Khan university who talked to the audience about this debilitating disorder

Rett Syndrome, she pointed out, is the result of a mutation on the X chromosome on a gene called MECP2. This mutation results in problems in brain functioning in areas responsible for social, cognitive, emotional functions and well as motor co-ordination. Observable symptoms of Rett begin to show from six to eighteen months of age, when the child starts missing milestones, and lose the skills she had gained. In other words, the child starts to regress, and begins to show other symptoms including impaired learning, repetitive movements, involuntary spasms, seizures, growth failure, no verbal ability, panic attacks, balance and coordination problems.

What was emphasized was that these Rett Syndrome Girls, mostly get misdiagnosed as having cerebral palsy, or are autistic, or have PDD-NOS, when all of the above emphasize that the child is mentally retarded when in fact, they are not. They take in the world, just like any other normal individual, and as Sana Kashif shared, through their penetrating eye gaze.’ Imagine being trapped with a fully functioning mind, inside your own body, and imagine having to live like that, every single day of your life, knowing that your only way of communicating it through your eyes. These beautiful girls have to rely on just that, to get a message across.’

The future, for the Rett syndrome girls, is not so bleak. Rett Syndrome was reversed in laboratory mouse models in 2007 and hence a cure is on the way which will make it the first neuro development disorder to be reversed. Treatments are also undergoing trials. It would be inexcusable if we were to let an intelligent girl waste away simply because we did not bother to learn about her condition. Perhaps you might not encounter someone with Rett syndrome, but there is a chance that someone you may talk to might have a friend, a relative, or a sibling who knows someone who does. And if they can’t help, at least they can treat that girl was kindness, respect and understanding. Educating ourselves about their condition is something we owe them. It is their right to expect it from us.