CARLSBAD — Rare genetic defects did not stop her from living an active lifestyle.
And it didn’t stop her from completing the Tri-City Medical Center Carlsbad Half Marathon two weeks ago.
But still, Kim Goodsell must keep her body and mind sharp as she battles the defects.
Nevertheless, Goodsell was able to complete her first race or event of any kind in 20 years, and the risk was worth the reward. She finished in less than four hours.
“It was an amazing thing just to be able to walk that distance,” she said. “I had no idea I could pull it off. I hadn’t been able to walk a couple miles in years.”
Goodsell was diagnosed in 1997 with arrhythmogenic right ventricular cardiomyopathy (ARVC), which predisposed her to sudden cardiac death and a future of progressive heart failure.
As it so happened, she nearly dropped dead at the finish line of her last race in 1997 thus ending her career as an endurance athlete. However, she pulled through and an implantable cardioverter defibrillator (ICD) was installed on her heart to keep her alive.
Still, she kept active, although at a much-reduced rate.
Goodsell said she lives to be outside and active and she wasn’t going to let her condition stop her.
So, with a less strenuous routine, she continued on with her life. Several years later, however, she was diagnosed with Charcot-Marie-Tooth (CMT), which leads to progressive degeneration and disability.
“I was having near death episodes, cardiac failure on a daily basis,” Goodsell explained. “I was that unstable. I had to decrease my speed to get me out of the danger zone.”
In 2010 her condition deteriorated rapidly and Goodsell was bound to a wheelchair.
Two years later, she self-diagnosed her condition by discovering the unifying genetic diagnosis of the two seemingly unrelated rare diseases. She has an extremely rare genetic mutation called a laminopathy — a premature aging disorder which gives rise to other rare genetic disorders (in her case ARVC and CMT), which accelerates degeneration of heart, muscle, nerve tissue and bone mass.
She said she is the only person in the world to have been diagnosed with both conditions. The odds of having both are 4 in 10 million, according to academic studies.
Between the two diagnoses, Goodsell’s body began to break down, she said. She suffered numerous broken legs and had hip replacement surgery due to her condition.
Still, the athlete in her wanted to compete and test her limits. So, she and her husband developed the ROVA, a new category of walker.
“I do have difficulty walking a bit,” Goodsell said. “It’s more like my bicycle. I was able to take a lot of my weight off my legs.”
Steve Puterski covers Carlsbad and Vista. For tips or story ideas, contact him at firstname.lastname@example.org and follow him on Twitter @StevePuterski.