I waited a long time to run for my sister, Taylor, in Utah: two years, or the amount of time since my most recent trip to one of the most beautiful places on our planet.
The last time I visited Utah with my husband, John, for eight days of hiking in Arches, Canyonlands and Capitol Reef National Parks, I was two states into a 50-state running journey. I’d never heard of posterior tibialis tendonitis or suffered a stress fracture. My sister was still walking.
You might assume that a summit dedicated to rare disease would be a negative experience, perhaps even bordering on tragic. You would be wrong.
The Global Genes RARE Patient Advocacy Summit held in Huntington Beach, California, on September 24-25 illustrates the positive energy that defines the rare disease community. Some people showed up in wheelchairs, while others had masks across their mouths and noses. One teenage girl brought her service dog, and one woman brought her oxygen tank.
While rare diseases create a seemingly endless variety of challenges, the summit participants all share the determination to help others and to leave no stone unturned to improve the lives of rare disease patients. continue reading →
New Hampshire was special.
Heather and Chris Dainiak established the Our Promise to Nicholas Foundation in 2009, not long after Nicholas, the older of their two sons, was diagnosed with late infantile Batten disease. Heather and Chris promised Nicholas they would work tirelessly to find a cure for the monster stealing his sight and motor coordination and wracking his body with seizures. continue reading →
My sister will turn 18 this Friday.
Mom and I traded party ideas once or twice, but the truth is that neither of us wanted to talk about the fact that Taylor can’t eat her own cake, or that most of her friends will be moving into their dorms this weekend and starting their college careers next week. They won’t be around for the 18th birthday party of a dying girl. continue reading →
It was a bright hot day in July, and it began full of promise. I was a newlywed and a new homeowner and had a great job. I was the happiest I’d ever been.
The phone rang three times before I answered it. Sometimes I wonder how different my life could have been, had I not taken that call or gone to be with my family in its wake or even moved home to Charlotte after my college graduation.
But I did. On July 24, 2006, I went home to the house where I helped raise my baby sister for the first few years of her life, and I held my parents and I cried and I tried to make sense of watching Taylor die.
My sister didn’t even look sick. continue reading →
Early this morning, I learned of the death of Jasper Duinstra in the Netherlands. When I saw the news on Facebook, my eyes misted and my legs went numb and my heart caught in my throat. But I’m supposed to be strong, so I wiped my eyes and shook out my legs and swallowed the knot, and I stood up at my desk and walked to a meeting.
Jasper’s family is Dutch but briefly lived in the U.S., where they formed fast friendships with other families fighting Batten disease. Jasper’s parents, Bou and Pip, believed in approaching the challenges of Batten disease in the same spirit as their young son’s approach to life – a spirit of enthusiasm and commitment. They established a fund, Jasper Against Batten, to support potentially lifesaving research. continue reading →
I’ll never forget my first Batten disease conference.
I was 25 that summer, still young and naive and supremely confident. My sister, not quite 9, had some of her vision and legs that worked and a smile that could light up a room. She could talk and sing and she didn’t have seizures. We’d known about her illness for almost a year, but I just couldn’t picture her getting as sick as the kids whose photos I’d seen on the Batten association site. continue reading →
Colorado snuck up on me.
My house sold the weekend I ran the Auburn Running Festival Half Marathon in late March, and I spent most of April packing, moving to a temporary apartment and working with a builder to finalize plans for our new home. I spent most of May catching up on all of the life stuff I’d let slide in the midst of the sale and move, like writing and supporting Taylor’s Tale.
Needless to say, I didn’t spend much time training for state number 13 or pitching my story to local media. And when I boarded a plane for Colorado, I thought I’d be happy just to finish the race. continue reading →
If things were different, we’d be celebrating my sister’s high school graduation next week.
I’ve thought a lot about how Taylor’s life would look if she hadn’t been born with Batten disease. I’ve tried to hold onto the days when she taught herself to read before all of her classmates and earned straight As in school and memorized all of the words to her favorite songs. I’ve listened to her voice in my head, because I can’t hear it in real life anymore. continue reading →