Bagpipes for Rett Syndrome Research

In June of 2006 a close friend of mine gave birth to a beautiful little girl named Lena. Like with all newborns Lena slept most of the time and she was cute as a button, displaying all of the characteristics of a healthy young life.

Approaching her first birthday however questions began to arise over her unusually small size, her difficulty digesting food and delayed motor skills. It was at this point that Lena underwent a series of medical tests, some involving specialists in rare diseases, and she was eventually diagnosed as having Rett Syndrome, a rare and debilitating genetic mutation that randomly affects 1 in every 10,000 girls. Needless to say Lena's mother was devastated by the diagnosis but she was also full of hope that something could be done to cure Lena of her condition.

Unfortunately, time has revealed that there is no such cure and Lena has to live with a daily cocktail of antiseizure medications, drugs to help her digest and pass food which is administered through a feeding tube installed in her stomach, she has frequent bouts of nausea, tremors and laboured breathing, she is non-verbal and cannot walk, crawl or coordinate her hands in any way that is useful. Scoliosis (warping of the spine) and the onset of Parkinson's disease are other handicaps that she has a high probability of developing before adulthood. The most frightening aspect of Rett Syndrome however is the high rate of childhood mortality resulting from the disease. The health of an RS girl can begin to decline suddenly and quickly at any time and you can only imagine how much of a toll that threat can have on the parent and their own ability to lead a normal life, not to mention the constant visits to Children's Hospital needed to keep Lena's condition under control.

Lena's mother, Kerstin, has done an incredible job of caring for Lena throughout this emotional roller-coaster. trying to give her some semblance of a normal childhood. Kerstin tirelessly looks for creative ways to engage and challenge Lena into doing activities that typical kids take for granted, activities like riding a bike, swimming, reading stories, etc., and some of her ideas have proven to be very ingenious and therapeutic. For example, she came up with the idea of fastening Lena's shoes onto the pedals of a trike, securing her hands onto the handle bars with splints and then pushing the trike forward such that Lena could explore her balance and become more aware of her legs as they spin with the pedals. This has been a huge benefit to Lena who has a noticeable neurological disconnect between her mind and her limbs. She beams with joy whenever she is on that trike (see the short movie below). We've discovered that Lena loves music too but that is another story.

Lena's primary mode of communication is with her eyes and when you get to know her it is very apparent that she is not vacant or unintelligent. She simply cannot express herself in a conventional way and you can see the frustration in her face when she is not heard or understood. She also struggles with seizures which can affect her ability to stay focussed. In an effort to empower her daughter, Kerstin has made communication cards for Lena. Each card shows an image of a separate activity like riding a bike, reading a book, listening to music, eating, drinking, etc. When the cards are held up in front of Lena she will tap the one showing the activity of her choice and this has proven to be the best way to give Lena the voice that she never had. You can really see the relief in her eyes knowing that she has some control over her surroundings despite her many handicaps.

With the advent of genetic technology there have been a number of medical breakthroughs in the past few years and there is some very promising news for girls with Rett Syndrome. RS has recently been reversed in mice afflicted with the disease and experts in the field feel confident that reversal in humans is within close reach. The only thing standing in the way of a cure for RS is funding for research and for the development of drugs. But, like it is so often the case with rare diseases, they don't get the due attention that they deserve from large pharmaceutical companies because it is simply not sufficiently profitable to them. There are so many girls like Lena out there and it is heartbreaking to think that they are kept shackled inside their broken bodies while a cure is staring them in the eyes all because of a lack of incentive.

Realizing a cure for RS is well within reach and, like the old saying goes, "every little bit helps". A lot can be done at the grass roots level and for this reason I invite you to inform your friends and family about Rett Syndrome or even better make a donation to the Rett Syndrome Research Trust or the International Rett Syndrome Foundation (IRSF). I will be doing my part the best I can given my financial situation by donating 10% of all proceeds from the sale of my bagpipes to these organizations. Yes, bagpipes can be good for humankind. Researchers are close to solving this puzzle so let's make that final push to free these beautiful girls from RS!

Thank you for your support.

Boris Favre



You can find out more about RS by visiting the following web sites:

Rett Syndrome Research Trust: www.rsrt.org
International Rett Syndrome Foundation: www.rettsyndrome.org
Northwest Rett Syndrome Foundation: www.nrettsyndrome.org

Videos can also be found on YouTube.



 
Wheelchair