From December 2021
When December rolls around and I’m celebrating the holidays, I always think of my sister, Carol. She died Dec. 19, 2002 at the age of 42 from complications of a rare, hereditary disease. We weren’t the closest of sisters, although we were only two years apart. But our circumstances and her disease forced us together. I like to think it was the hand of God that was at work, especially in the last few years of her life. Because of her, I am a better person.
My parents didn’t know when they married that they each carried a recessive gene that would result in two of their children suffering from Friedreich’s Ataxia (FRDA). Things seemed normal at first, but Carol had trouble walking–she stumbled and fell a lot–and around the age of 4, doctors discovered she had FRDA. (My sister Catherine, currently a resident in a long-term care facility, also developed the same disease, but wasn’t diagnosed until the early 1980s).
German physician Nikolaus Friedreich first described the condition in 1863 and in 1876 determined its hereditary nature. Essentially, my sisters inherited one copy of the mutated or changed gene causing FRDA from each of my parents and developed the condition. It was not until 1996 that the genetic defect was identified. Genetics are not my area of expertise, so I reached out to science friend Dr. Janet Salzwedel, biology professor at Adrian College, to explain this in layman’s terms.
“The disease is due to a mutation in the gene for the protein called frataxin,” she explained. “Frataxin is found in the mitochondria of cells (mitochondria are called the powerhouse of the cell because they make the energy molecule Adenosine Triphosphate [ATP]). The function of frataxin is to control the balance of iron in the mitochondrion. When the amount of frataxin is deficient, then the damaging forms of oxygen in the cell are not quenched and the damaging forms of oxygen cause oxidative stress. Oxidative stress can lead to damage to membranes, proteins, and nucleic acids and is typically seen as diabetes, damage to heart and arteries, and general inflammation. It also can cause breakdown of the myelin that coats neurons. Without the coating, nerve impulses are not transmitted properly and could lead to motor impairment.”
Doctors didn’t know all of this in 1964, when they discovered it in Carol. They only knew my sister was going to get worse as a result of this condition and eventually die, probably at a young age. Carol had the added complication of a congenital heart condition, which is a characteristic of FRDA patients, although not all of them have heart disease.
Carol started her freshman year at Tecumseh when I was a junior, the fall of 1974. She struggled mightily. She would walk crookedly down the hallways of the old Tecumseh High School on her spindly legs, crashing into lockers and falling on the terrazzo floor. Because of her handicap, she spent a great deal of time in Mrs. Gerry Pobuda’s Special Ed room where students with mental and physical disabilities were sequestered back in the 1970s.
By the time she reached her senior year, she no longer could walk safely and was forced into a wheelchair. Her classmates in high school helped her make the best of her situation. They decorated her wheelchair in the colors of the Class of 1978, adorning it with crepe paper and streamers, and one classmate pushed her chair up the makeshift aisle in Indian Stadium that hot June afternoon. When her name was called and she received her diploma, the whole class stood and cheered. She just beamed with pleasure.
She finished college, earning a bachelor’s degree from the University of Arizona, and she had two daughters, twins she named Meghan and Morgan. In her life, she wanted just one thing–to be like her sisters despite her handicap. She wanted to be a writer like me and to be a mom, like Kristin and Anne. She accomplished that and much more in her years living in Ypsilanti and Ann Arbor. FRDA never defined her.
She was so proud to be a parent, to have the opportunity to care for her daughters, make decisions about them, do all of the things parents take for granted. It was not easy. But she prevailed, despite the roadblocks presented by her deteriorating condition.
Her life was hard. She couldn’t drive, she couldn’t feed herself, she couldn’t get up and walk into another room. She couldn’t lift her arms to wrap them around her children–we had to help her. She depended on others for all of her needs, even the most personal requirements of daily life. Yet, she was a happy person, with a big, loving heart and a sparkly smile. She saw the good in others, even those who took advantage of her or mocked her. She lived her best life every day of her life.
The country star Tim McGraw had a big hit back in 2004, “Live Like You Were Dying,” which still moves me to tears each time I hear it because to my mind, it defines how Carol lived her life: “I loved deeper, I spoke sweeter, I gave forgiveness I’d been denying.” I do not know how my sister was able to survive through so much adversity, but I like to think it’s because she just took it one day at a time, living in the present moment, and letting the future worry about itself. It’s a lesson we all can benefit from.
Living each day as if it is your last might just be the key to true happiness.
SQUIBS 