October 13, 2012 is Madison first year’s participation of the international “Blue Sky Girls,” the annual event that raises the public’s awareness of Rett Syndrome and commemorates the strong will and determination that Rett Syndrome patients have shown to fight for the disease.
Strongly moved by the optimistic attitude and strong will of Rett Syndrome patients and their family, I chose this topic as my second multimedia project, and made a video story about “Blue Sky Girls.”
Rett Participants climbed up the steps of the Capitol building to show a symbolic meaning that “ no matter how difficult it is for them to walk with physical difficulty they have, but yet they move upward and forward.” Says Kelly Schoeller, the event coordinator, also mother of Mackenzie, a nine years-old girl living with Rett.
Wisconsin Governor Scott Walker have recently signed a Rett Syndrome Awareness Month Proclamation for October. Madison firefighters (local 311 Firefighters Union) came to the event scene to assist Rett girls to complete their symbolic climbing up to the top.
Rett syndrome was first described in 45 years ago and is a progressive neurodevelopmental disorder that is caused by mutations in X chromosome on a gene called MECP2, thus occurs almost always on girls. Rett Syndrome occurs in 1 of every 10,000 to 23,000 female births worldwide and can be found in all racial and ethinic groups.
According to International Rett Syndrome foundation (IRSF), Rett syndrome is a developmental disorder and first recognized in infancy. Many Rett girls loses their milestones during their growth. Typically 12-18 month, they begin to lose their ability to walk, communicate and most of their hand functions. Symptoms also include:
• Loss of speech and motor control
• Functional hand use replaced by compulsive hand movements
• Disordered breathing
• Severe digestive problems
• Orthopedic abnormalities including scoliosis and fragile bones
• Disrupted sleep patterns
• Extreme anxiety
• Impaired cardiac and circulatory functions
• Parkinsonian tremors
Most Rett girls are usually believed by their family members not to lose their ability to understand and are just “trapped” in their bodies that does not work. The “Blue Sky Girls” event also plays a role to remind people that “not equate inability to speak to inability to understand,” says Schoeller, “ especially with the new study coming out that their cognitive ablities are better than what they thought. Nobody likes the word ‘mental retardation,’ but that was when you read some of the older papers, it would say it was one of the common causes of metal retardation in girls. But honestly, they have’t been able to test the cognition in children who cannot speak and cannot point, so I think they underestimated it. Clearly, these girls are communicating, and clearly they have something to say.”
According to IRSF, “in 2007, researchers heralded a major breakthrough by reversing RTT symptoms in mouse models. Rett syndrome is recognized as the ‘Rosetta Stone’ of other neurological disorders, with genetic links to other disorders like autism and schizophrenia.”
Dr Qiang Chang, Rett Syndrome investigator in Waisman Center, UW-Madison, says, “The more research we do, obviously the more we know about this disease and find something. When I started ten years ago, and searched for this disease or this gene in the database, there are very few studies that have ever been done, maybe 20 or so, but just in the last these ten years, there are probably thousands of reports that have been published related to this gene and this disease. ” Although there is still distance from basic research to clinical drug, Chang says, “this indicates hope.”
Dr. Chang also mentioned that one milestone study in 2007 gave RTT families and researchers hope that RTT is curable. In that study, a research group led by Dr. Adrian Bird showed that RTT symptoms can be reversed in mouse if the normal MeCP2 product is produced after disease onset.”
“Blue Sky Girls” has become a worldwide event since last year. This year, according to event organizers in Madison, about 24 states and seven countries celebrate the event simultaneously.