WHERE WE ARE NOW…AND HOW WE GOT HERE (aka the first and longest post on this blog!)
A SCARY DAY
On July 28, 2014, doing nothing more than stepping from one foot to the next, TitaniumAmy’s right femur spiral fractured. She was at physical therapy at the time, and her PT, Dustin, saw the bone bulge from the side of her thigh as she collapsed. He immediately stabilized her leg. Paramedics put her leg in traction and she was transported to the hospital where she had a titanium rod implanted late that night.
Although we knew our girl’s bones were unusual, we had been told that her condition was not associated with fractures ~ especially non-trauma fractures. Our concerns were compounded, especially since nobody could say for sure whether this would happen again.
A CALL TO AN OLD FRIEND
We called Dr. Duke, Amy’s former endocrinologist, and a world-renowned bone specialist at Children’s Hospital, Los Angeles. Amy had not seen him in several years (we had stepped off the never-ending wheel of doctors when she was in high school – after years of looking for answers, we decided to just focus on living life). In those intervening years, medicine, and in particular, genetic research, had advanced to the point where there was a new option available to us – whole exome sequencing (WES). Dr. Duke arranged for Amy’s blood to be sent to UCLA for testing.
MEANWHILE, BACK AT PHYSICAL THERAPY
Amy and Dustin had started setting goals. Her bone was healing oh-so-slowly (the most recent x-ray, 18 months post-surgery, shows it still is not completely healed!). First was simply walking. Soon the goal became walking around Disneyland. That goal met, Amy wanted to learn to run again. And, a crazy idea started to take shape – what if they could RUN through Disneyland?
We didn’t hold out a whole lot of hope for WES, after all, Amy’s genes had already been examined at least 3 times in the past with no findings. But, this time was different. Three small errors were found. And, in true TitaniumAmy form, her genetic make-up is so unique in that nobody else has been recorded to have these exact errors. Two of these errors are therefore termed as having “unknown significance.”
But, people with errors in this particular portion of the genome have some similar characteristics. The short story is that errors on this gene are associated with serious medical concerns, and progressive decline. Only about 1 in a million babies with similar issues survive until birth. Amy is one of only a handful of adults identified as living with this type of genetic disease. More testing is still needed before a final diagnosis will be given.
IF YOU CAN DREAM IT…
As these troubling results were coming back (and with them a plethora of activity from arranging meetings with geneticists and specialists to being accepted into medical research at the National Institutes of Health) Amy was moving toward her goal. She and Dustin had set their sights on a Disney 5K run. It was a surreal juxtaposition: While we were learning about this frightening genetic condition, Amy was being undeniably HEALTHY. The dream was alive…just one barrier stood in the way…the Disneyland 5K races were sold out months in advance.
Enter Kevin, of Rausch Physical Therapy. He contacted a fairy godmother at Disneyland, and through that contact, many people worked together to get Amy into the Star Wars 5K through Disneyland Resort. The race would take place on January 15th, 2016, which was a little over a month away; and Amy needed to be able to run a 16 minute mile. She kicked into a new drive in PT, and soon the race was within reach.
YOU CAN DO IT!
Apparently the Force Awakens early…we had to be at the Disneyland at 4:30 a.m. for the race! As we walked toward the lights and tents and crazy, costumed runners, Amy’s smile just got wider and wider. Amy and Dustin set off pre-dawn for a 3.1 mile trek through the most magical place on Earth.
Waiting at the finish line, we finally caught sight of our runners just as the first rays of dawn started to lighten the sky. But, Amy’s grin was brighter still. She and Dustin kept looking back and forth at one another smiling like kids at Christmas. What a difference from the worried looks that had passed between them just 18 months before.
Amy looked so strong as she jogged across the finish line. By the end of the morning, Amy and Dustin were already discussing what their next goal would be. In the meantime, we have gotten our date for a visit to Bethesda, MD, to meet the researchers at the National Institutes of Health. Hopefully, they will be able to help us understand Amy’s medical condition better, and Amy will be able to help them learn more as well.
Regardless of where the medical journey takes us, my bet is on TitaniumAmy and her unwavering commitment to defying odds and embracing life.