Today I spoke with Tim Freeman, father to 5-year-old Eleanor (both at right). When she was 2 1/2 years old, she was diagnosed with Rett Syndrome, a genetic neurological disorder that leads to severe disabilities. It affects girls almost exclusively, and is particularly devastating because they often start out developing normally for the first year or so, and then begin to regress to the point where they can no longer walk or talk. My cousin Nora was diagnosed with Rett more than 30 years ago; she has never spoken, she's been confined to a wheelchair since childhood, and her health is very fragile. Many girls and women with Rett Syndrome have severe scoliosis, require a feeding tube, and have frequent seizures. Eleanor doesn't have any of those impairments, thankfully, and her father says she's happy and even comfortable in her own skin, though she doesn't walk or talk.
Just over a year ago, Tim made a career change, and took a job as program director for the Rett Syndrome Research Trust. This nonprofit has one focus: to fund research that will identify a cure for Rett, and until then, effective treatments. Launched in 2008 by executive director Monica Coenraads, mother of a now 17-year-old daughter with Rett, RSRT has already committed $20 million to research. Of all the money raised, an impressive 96 percent goes directly to research. If you're inclined, there are many ways to support the work of the RSRT, including by donating money directly, attending one of the many fundraisers taking place nationwide, or even by ensuring that a percentage of your online purchases are donated to the nonprofit.
Tim says that there is "great promise" for Rett's future. "It can be cured," he explained. "It's not going to happen next year, or maybe in five years, but it could happen in the next decade." Among the most exciting findings about Rett is that it has been reversed in mice. "There's a long road between reversing it in mice and reversing it in humans," he conceded, but what's especially important is that the age of the mice didn't matter. So expanding upon this research is as crucial for a child like Eleanor as it is for a grown woman like my cousin. It practically takes my breath away to imagine what it would be like to get to really know Nora after all this time.
I asked Tim what it's like to work for RSRT, given how connected he is to the cause. His response was simple and poignant: "Every moment of every day I'm trying to change my kid's life. It's a lot of work, but it doesn't feel like a job. My daughter struggles every day, and I'd do anything, I'd give away pretty much anything, to improve her life."