The SETBP1 gene is located on the long arm of chromosome 18 at protein 12.3. This gene contains the instructions to produce SETBP1 protein. The protein is shown to be active in numerous tissues, predominantly in the brain.
DNA changes that lead to a decreased amount of SETPB1 protein are associated with SETBP1 disorder, a rare disorder, with only 40 cases known worldwide, that can cause a variety of symptoms, including developmental delays, autistic traits and seizures.
And Charlie Ford has a carousel at his Northwest Austin house.
Stay tuned for linkage of the above facts.
Austinite Cole Oyler turned 7 on Jan. 18, the day we posted my column about the fact that the now-closed Kiddie Acres carousel — which Ford purchased, dismantled, moved and remantled (I’m a professional. I get to make up words) — was up and running at Ford’s house.
Give me a minute and I’ll tie this all together in a way that should make you feel good about something nice Ford is doing Saturday with his carousel. It involves people with SETBP1 disorder, including young Cole (of whom there are photographs indicating he should be in the Head of Hair Hall of Fame).
Let’s have Haley Oyler, Cole’s mom, set up the story via highlights of an email she sent to Ford.
“Hi Charlie,” she wrote. “I am the mom of a child with a rare genetic neurodevelopmental disorder called SETBP1 disorder. He is a delightful little boy who coincidentally turned seven on the day the article was published about your success with getting the beautiful carousel up and running, Jan. 18.”
She told Ford that last year she started the nonprofit SETBP1 Society to spread awareness about the disorder. And she told Ford about Rare Disease day.
“We are taking part in a fundraiser designed for rare disease organizations to spread awareness and raise funds for their cause,” Oyler told Ford. “The fundraiser culminates on Feb. 28 where organizations and individuals will take part in riding a carousel in San Francisco. However, for most of us, we will be participating virtually.”
Slow down. I know you’re getting ahead of me here. I’ll type faster and try to catch up with you. Back to Oyler: “After reading the article, I thought you might be interested in sharing your carousel to help spread awareness of rare diseases, especially SETPB1 disorder, and to bring joy to kids and adults alike.”
And then she buttered Ford up a bit: “That is so wonderful and unique to have rescued the carousel and to have devoted your time, energy and money to getting the carousel functioning properly again.”
She’s good, right? There’s the windup. Here’s the pitch: “If you are open to it, we would like to host a small event the weekend after Rare Disease Day … so that friends and family and others could ride an actual carousel as part of the fundraiser. Friends and family could ride it and share photos, and if you were open to it, we could even sell tickets which would benefit our nonprofit. This is a lot to ask but I couldn’t resist asking you.”
And, again because she’s good at this, Oyler ended with this: “My son with SETPB1 disorder, Cole, is on the Faces of SETBP1 page with the teddy bear.” I told you about Cole and his hair. No way you’re resisting that photo.
A few days went by and Oyler didn’t hear from Ford. “I may have been a little overzealous in my email,” she told me.
Nope. Carousel man was just doing his due diligence, which, of course, means checking with his insurance company. He got the all clear, and the event is set for Saturday morning.
Nice to see an Austinite sharing his toys with others for a good cause.
For more information, check SETBP1.org/events.
One more update, this one for those of you who read my Valentine’s Day column about the peregrine falcon at the University of Texas Tower and how people are hoping this is the year when Tower Girl, as she’s affectionately known, will at long last become a mom. UT’s Falcon Cam is up and running. Take a look. Pretty amazing (at least when Tower Girl is home.)
“The camera is really high-quality, and she is so much fun to watch,” said Esther Robards-Forbes, spokeswoman for the UT College of Natural Sciences. “Still no eggs in the nesting box, but our fingers are crossed.”