From Washington, DC to Western Australia
Anyone who hung out with Charley this summer knows he has a new look. He acquired some key accessories to look “cool,� including mirrored sunglasses, the silver Believe necklace with black suede cord, and navy crocs with strategically placed jibitz (he even has to accessorize his accessories).
Fashion is not the only arena in which Charley is expressing his independent spirit. This summer he took the training wheels off his bike and learned how to ride a two wheeler. He took a couple of ice skating lessons in Sun Valley. The skating instructor commented that he was just as good as any boy his age because although his muscles are not as strong, his determination pulled through.
I am deeply grateful that Charley is so strong-willed. But sadly, sheer determination is not enough to conquer the notoriously aggressive Duchenne Muscular Dystrophy. I pray that his will and determination holds out long enough for the science to come through. Thankfully, the scientists are speeding up. In the three years since Charley’s diagnosis, major strides toward a treatment have been made.
The list of potential therapies with a real shot at making a difference in DMD is growing. We are currently funding 12 projects that have a shot at helping this generation of boys who won’t hold out much longer without significant help from cutting-edge medical research. Some highlights:
We have just contracted with Biofocus, a UK-based company, to screen thousands of FDA-approved drugs to see which ones can increase the body’s production of utrophin, a naturally occurring protein that can compensate for lack of dystrophin (the missing protein in DMD boys).
Dr. Steve Wilton at the University of Western Australia is investigating a “cocktail approach� to exon skipping -- currently the lead horse in the race for a treatment. The exon skipping therapy varies for each subset of DMD boys, depending on which genetic mutation the boy has. Dr. Wilton is skipping multiple exons at once, which will expedite the process so more boys can be treated more quickly.
Dr. Kanneboyina Nagaraju at Children’s National Medical Center in Washington, DC is testing four drugs that could theoretically help boys with DMD. After administering the drugs to mice with muscular dystrophy for a six-month period, he will analyze the data to determine if any of the four do indeed mitigate the muscle deterioration brought on by DMD. If the data are positive, the next step could be a human clinical trial in Duchenne boys.
To get one of these products to the clinic may seem like a miracle, and it is. But it happens. I recently received a letter from a donor living with multiple myeloma, a deadly form of cancer. Miraculously, she has far exceeded doctors’ predictions thanks to several experimental treatments that have extended her life and given her a quality of life she was not expected to have. Her letter is living proof that although we are working to bring about a miracle, it is really and truly doable. Thank you for sticking with us as we do everything we can to save Charley, Aidan, Javier, Dylan, Cooper, and so many other boys.