The Story of One Family’s Battle With a Rare Genetic Disease
By Gina Kolata
In Mercies in Disguise: A Story of Hope, a Family’s Genetic Destiny, and the Science That Rescued Them, acclaimed New York Times science reporter and bestselling author Gina Kolata tells the story of the Baxleys, an almost archetypal family in a small town in South Carolina. A proud and determined clan, many of them doctors, they are struck one by one with an inscrutable illness.
GSS was relentless. It was becoming increasingly clear that it was going to render Buddy a shell of the man he had been. He could feel it coming, he knew the symptoms all too well, and yet he struggled mightily against it.
The illness was ceaselessly physically demanding — there was no getting used to it, it simply happened. But there was a psychological lag time; trying to face the new reality that this illness had ushered in was like trying to imagine the true size of the universe. Buddy felt a certain amount of pride — he did not want to be remembered as a feeble, sick man, utterly dependent on others. But there was also not a small amount of denial mixed into his attitude as well — the more he could hold on to who he was, he believed on some level, the less the disease could take over his existence. He did not want to give in to GSS.
Yet as time went by, little by little, it was hard not to see that GSS was winning the battle.
In July 2005, a few months after the trip to San Francisco, Buddy’s speech became almost impossible to understand, forcing him to use an alphabet board to spell out his words in order to communicate.
Around the same time, Buddy and his family went to their favorite seafood place. But Buddy gagged so badly with every bite that he finally gave up, defeated. The family left the restaurant; there was no point in continuing the meal if Buddy couldn’t eat. When they got to their car, Buddy began to weep.
Luke turned to his father and said, “We don’t care that we don’t go out to eat. We care that we get to be with you when we eat.” That was the last time the family went out to a restaurant together.
The following month, Buddy was forced to surrender to the next phase of the disease. Kathy had made steak for dinner and chopped Buddy’s portion into minuscule pieces. Despite her effort, Buddy choked on the tiny pieces of meat, strangling and coughing. Kathy was terrified.
“Sweetheart,” she said, “you know as a medical person that if you inhale a piece of food it will give you pneumonia.”
“Why don’t I try processing this steak and see what it tastes like?”
Buddy looked at her, his eyes welling, and nodded again. He looked down at his alphabet board and spelled out “please.”
From that day on, Buddy ate nothing that was not pureed.
His brother Billy, on the other hand, refused to give in on this front. Proud and defiant, he continued to cough and choke on his food until the day he died of pneumonia, most likely from inhaling food.
Even with pureed food, Buddy’s weight kept dropping. Kathy stayed home from her job, hoping if she was there all day she could fatten Buddy up. Instead, he lost fifteen pounds in three weeks, his weight falling to 106 pounds. She decided staying home was not helping and went back to work — leaving him to be cared for by home health aides.
“Come on, laugh, have some fun, I said one night before going to sleep,” Kathy wrote in a journal she kept at the time. “He mumbled something and I asked him what he said. He said, ‘Can’t have fun.’ I asked him why and he said he can’t have fun anymore. I told him I understood that it was hard. No, I didn’t understand. No one could. I asked him if he was tired of everything. He said he was tired of being a burden to everyone.”
Kathy wrote about her struggle to accept Buddy’s illness as part of God’s plan. “No, Lord, it hasn’t been easy. But I’ll stop asking for it to be. You said ask and you will receive. I’d like him back walking and talking but if that’s not in your plan, I’m not going to stop loving you now. You’ve been with me all my life and you have worked some amazing miracles in my life. I won’t stop believing in you now because I am so grateful. But I don’t know the best you can do in this situation. I just ask that you do it. And I’ll be so grateful.”
As Buddy got more and more debilitated, the family vowed to make the most of his remaining time, spending days and evenings and weekends with him. The hardest thing for Holly, Luke, and Amanda was that they could no longer talk to their father on the phone. He was unable to speak.
Amanda came home from college every other weekend to help. Luke called frequently and came home from medical school as often as he could. Holly visited on the weekends when she could get away. She lived about forty-five minutes away, working as a math teacher and taking care of her little boy. During Buddy’s illness she became pregnant again with another boy, trusting in God to take care of her and her family even if she had the GSS mutation.
Buddy’s brother Mike, who lived in town, came nearly every day after work and read to him from Louis L’Amour novels and the collections of Archibald Rutledge, the poet laureate of South Carolina, who wrote about adventures in the woods and nature. Rutledge was one of Buddy’s favorite authors — Mike read through all of his books twice.
Townspeople and former patients offered to help. Kathy’s Sunday school class at Lakeview Baptist Church began delivering meals to their house every Tuesday night, when Kathy was working nights at the medical clinic. Whenever Kathy tried to thank them, they replied it was a blessing to help.
Kathy subscribed to the western channel on cable television so Buddy could watch his favorite movies. He would spend his days in a brown leather recliner in the paneled living room, watching Clint Eastwood and John Wayne.
Life at home was hard — and getting ever harder — especially when communicating was so difficult. Buddy would get frustrated, angry with himself, waving his hands about, grunting. But he had vowed not to wallow in self-pity.
The first time Amanda helped her father use the bathroom she was nervous and embarrassed for him. Buddy was a very modest man. She wheeled him into the bathroom and picked him up. His head was resting on her shoulder — his muscles were contracted and he couldn’t sit up. She put him on the commode and bent down, face-to-face, and said, “Is this okay?” He looked up. He never, ever in his life would have allowed his daughter to help him when he had a bowel movement. But when he could still talk he used to say, “You’ve got to laugh about it or it will drive you crazy. We are not going to cry. We are not going to get mad.” That day, Buddy met his daughter’s eyes and burst out laughing with his odd “heh” sound.
In 2006, Buddy’s office reopened as a free medical clinic. Kathy managed it along with the clinic in Darlington. One of Buddy’s patients painted his portrait and Kathy hung it on a wall in the waiting room. The family took Buddy there in a wheelchair for the opening ceremony. Buddy, with his shaking hands, managed to cut the ribbon.
Buddy died, at 1:00 a.m. on April 16, 2010. It was almost two years to the day after his brother Billy died.
Buddy, like Billy, died at home. Kathy and a hospice nurse cared for him until the end. Earlier that day, Kathy had asked the preacher at her church, “When is enough enough?”
When she heard the nurse’s footsteps coming up the stairs to her room in the middle of that night, she sat up immediately.
“He’s gone, isn’t he?” Kathy asked. And she felt a burden had been lifted.
But an unspoken question hung over the Baxleys: Who would be next?
Copyright © 2017 by the author and reprinted by permission of St. Martin’s Press.