Forgive the corniness, but that is the only apt title for this sorely belated blog entry. Over the past six weeks, we have traveled across the country twice, down the East coast, and across the Atlantic Ocean. Our first – and most important – adventure was to The Netherlands, where we met with the scientists who are working on the exon skipping therapy for Duchenne Muscular Dystrophy. Prosensa (www.prosensa.nl) is a Dutch biotech firm that has partnered with Leiden University Medical Center to turn exon skipping into a viable therapy for DMD patients. Charley and his brother Sammy had a ball fiddling with the microscopes at the laboratory. For some reason, eating in the University cafeteria was also a highlight.
A dermatologist performed a skin biopsy on Charley to get a sample of his cells. The procedure was a quick pinch on the arm, and Charley handled it well (only two minutes of rabid screaming). Scientists transformed the skin cells into muscle-like cells to be used in their exon-skipping research. The team had never tried exon skipping in DMD cells with Charley’s specific genetic mutation. We just heard from the CEO of Prosensa last week. Charley’s skin cells were successfully transformed into muscle-like cells. Now the exon-skipping experiments on his cell sample have begun, and all is proceeding smoothly.
Although the trip raised many questions for the boys about why we were there, we still managed to keep it light and have a sense of adventure. In Amsterdam, we visited a zoo, a science museum, and lots of great shops and restaurants. And of course Charley is only five years old, so the facts aren’t 100% clear in his mind. Before we left for Europe, I took the boys to a local bookstore to buy some books about The Netherlands. I was waiting on the checkout line with my books about Van Gogh and the tulip trade, when Charley came running over from the children’s section, excitedly waving a Peter Pan book. “Mommy!