Family fights with ALS across generations
Sallie Gutherie saw her 26-year-old son's leg twitching and felt she'd been hit by a wrecking ball. Ever the strong matriarch, she said nothing. Even when Lucas pressed her, she shooed away his fears. She assured him: there was no way it was happening again.
Gutherie, 62, who was losing her husband of 29 years, Chuck, to amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease. Diagnosed in May 2012, his decline was rapid and unforgiving. Charles "Chuck" Gutherie died less than a year later on April 12, 2013, at age 60, leaving behind five children and one grandchild.
The topic — Lucas' leg twitching months before his father died — came up at a recent Gutherie family Sunday dinner, a tradition they started when Chuck got sick. Upward of three-dozen relations (the immediate family numbers 15) gather in Sallie and Chuck's trailer in Addison Township where the kids were raised. They feast on potluck dishes in aluminum trays amid hearty laughter, a gaggle of little kids and an uncommon devotion to each other.
"You mean you knew back then?" asked Sallie's daughter and Lucas' stepsister April Thiel, 39.
"Yes," Sallie said quietly, "but I didn't want Dad to know."
"Why didn't you tell us?"
"Well," she answered quietly, wistfully. "I kept thinking there was a chance I was wrong."
The family's worst fears were confirmed on April 28: Lucas is the third generation to test positive for familial ALS, which means the disease is inherited. It was confirmed in a phone call from Dr. Eva Feldman, one of the nation's leading ALS researchers. She is director of the Program for Neurology Research & Discovery at the University of Michigan Health System. Her clinic also treated Lucas' father, Chuck, and several others in the extended family.
In families with genetic or inherited ALS, there is a 50-percent chance each offspring will inherit the gene. With the Gutheries, ALS has run rampant, toppling family members like dominoes. Seven family members, including a grandmother and her son, four siblings and a cousin — ranging in age from 46-61 — all died.
And the hits just keep coming. At least two dozen other Gutherie descendants — including Lucas' younger sister, his aunts, uncles, cousins, nieces and nephews — also are at risk of carrying the gene mutation. Layla Gutherie, the 20-month-old daughter of Lucas and his wife Shawna, is the fourth generation to possibly face the ALS scourge.
Where the family once thought ALS would not strike until middle age, Lucas' diagnosis — at 26 — raised the threat level. Now, anyone was fair game.
"I have nieces and nephews who are older than Lucas," says Pam Gutherie Woods, 67, Lucas' great aunt. "One of my first thoughts was how do I tell them?"
Lucas knew beforehand
Before the illness took hold, Lucas was a restaurant manager for Arby's. He and Shawna married on July 22, 2012. They live in Oxford, a 10-minute drive from his parents' home.
Layla was born the following April. Her grandfather died when she was a week old. Three weeks after her first birthday, her father was diagnosed with ALS.
Lucas knew long before he was diagnosed. "You know when something is not right with your body." His biggest worry is for his daughter's well-being; he prays she does not have the gene.
"I figure I'll be fine once everything goes down. To be honest, everyone else has got it way more rough than me. They gotta watch me go through it."
Familial ALS accounts for about 15 percent of all ALS cases. Idiopathic ALS, the most common form of the disease, makes up for the remaining 85 percent. At any given time, there are about 30,000 cases of ALS in the country.
The disease attacks motor neurons that are responsible for sending signals from the brain through the spinal cord to control muscle movement. When the motor neurons die, it dismantles all voluntary muscle movement. Patients incrementally become completely paralyzed, unable to speak, swallow and in the end, breathe. ALS is especially cruel because it does not impair cognitive thinking, which is why "feeling like a prisoner in your own body" is such an apt description.
There is no known cause of ALS. No treatment or cure. The life expectancy of an ALS patient averages two to five years. The average age of most people who develop ALS is between 40 and 70 years old.
Lucas' age is evidence of the vast variability and complexity of ALS, Feldman said.
"Lucas is not the youngest patient I've ever diagnosed, not by far," she said, "but every time I diagnose a young person I think: We need to do more and we need to do better, collaboratively and collectively."
The gene mutation responsible for ALS in the Gutherie family is called the SOD-1 gene. This gene represents about 1 percent of all familial ALS cases. In the last several years, scientists have discovered about six to eight more ALS genes that can be inherited.
"There are likely more genetic causes than we had previously realized," Feldman said. "Our ability to detect new genes is important because it helps us discover what causes this disease, in at least a subset of patients, and that gives us clues for the other 85 percent of ALS patients."
Feldman has completed stage one and two of the nation's first clinical trial using stem cells injected into humans with ALS. Begun five years ago, some patients either improved or stabilized in the trial.
"I'm very hopeful that we can come up with the best way to deliver these stem cells and the most effective way to fast-track this therapy," Feldman said. "I really do believe in cellular therapy."
To be sure, had the Gutherie family ancestors known they carried the ALS gene, they would have thought twice about having children.
"I wondered why dad would have eight kids if he knew he had it," says Pam Gutherie Woods, who lost four siblings to ALS. "But he didn't know until he got sick. And by that time he had all his kids and his grandchildren. Can you fault someone for that? You can't."
Couples who know they have familial ALS and are planning to have children could stop the cycle by using invitro fertilization and predictive genetics, Feldman said. Embyros using the mother's egg and the father's sperm are formed in the laboratory and, in a matter of days, it can be determined which embryos have the mutation. Those that do are discarded and those free of the ALS gene are implanted in the mother.
"You can completely get rid of the inherited disease in one generation," Feldman said.
This summer the Ice Bucket Challenge raised unprecedented public awareness of the disease. On Aug. 29, the ALS Association announced that their total donations since July 29 had exceeded $100 million, almost five times more than the association received in all of 2013.
The ALS Association, which has received the bulk of donations, has not announced how the Ice Bucket Challenge money will be directed or how much will go specifically to research.
But when you're 26 years old and the clock is ticking, research can't come fast enough.
"I don't want ALS to be just a movie of the week or the charity of the month," Lucas said, "because it takes everything away from you: your dignity, your freedom, your humanity. It takes away everything."
Pam Gutherie Woods cuts right to the chase: "I hope our story pulls a lot of people's heart strings because we need a cure. We need to make this stop. Please, just make it stop."
A match made at Ford
Sallie Colvin and Chuck Gutherie met at the Ford Tractor plant in Troy in the early 1980s. After the Troy plant closed, Sallie was transferred to the Ford Utica trim plant and Chuck went to the Ford Livonia transmission plant. When they married in 1984, Chuck had one son from a previous marriage, Bob Gutherie, 8. Sallie had two children: April Colvin Thiel, 8, and Nick Harding, 6.
Five years later Lucas was born, followed by Anna in 1989. The kids all attended Romeo schools. "We were never blessed with money or anything like that," said Bob, 39, "but we were definitely blessed with family." With the exception of Bob, who lives in Florida, everyone lives in Macomb County within a 10-mile radius of each other.
When Chuck called his sister Barb Gutherie Bardeleben to tell her he had ALS, she dropped the bombshell. Barb told Chuck that their great uncle — their father's brother, Addison Gutherie — had died of ALS in 1988 at the age of 61. What's more, four of Addison's eight children died of ALS: Ron and Sue both died in 2006, Rick in 2007 and Linda in 2011.
Chuck's father, Warren Gutherie (who was Addison's brother) may or may not have been a carrier. Because he died at age 39 of a heart attack in 1968, the family will never know. Warren's early death explained why the families had drifted apart.
When Chuck got off the phone, he and Sallie were in shock. "We couldn't believe it," Sallie said. "We were freaked out for days." There wasn't much time for panic. Chuck was declining fast and in need of care 24/7. He went from crutches to the wheelchair; from speaking one day to no voice the next; from writing on a dry erase board to being unable to lift his arms; from difficulty swallowing to a feeding tube; from difficulty breathing to a C-pap machine, finally deciding against a ventilator.
Even when he could no longer speak or eat, Chuck still insisted on Sunday family dinners.
"He wanted to have laughter in the house and see his kids all together having a good time," Sallie said. The multitudes more than complied. If the noise or the cars parked on top of each other bothered the neighbors in the narrow streets of the trailer park, nobody complained. It was for Chuck, after all.
"I know everybody says this when someone has died, but my dad was the greatest guy," says Bob Gutherie. "He was always a hard worker, the first to punch in and the last to leave; always doing double shifts for people. He'd go to the grocery store for neighbors, shovel their sidewalk, take them to the doctor. There were so many people at the funeral I never met before."
It wasn't until the family received a book "Never Giving Up, Never Giving In" by Pam Gutherie Woods (PublishAmerica, 2011) that Chuck and his family understood how ALS has ravaged his family for generations. Pam, 67 is Chuck's cousin; their fathers Addison and Walter were brothers. Woods chronicled the "family curse" because she said in a recent interview: "I didn't want my family members to be forgotten and I didn't want anyone to forget what ALS does."
As far as she can tell, their familial ALS began with Grandma Goldie Gutherie's mysterious death at the age of 46 in the early 1950s. While Goldie's official cause of death was listed as a heart attack resulting from a stroke, the stroke occurred after back surgery to correct a "paralyzing leg disorder."
Addison Gutherie lived for three years with ALS. After a pulmonary embolism, he elected to go on a ventilator and a feeding tube. Near the end, he communicated by blinking his eyes. One of the low points was when his appearance — the trach, the mouth permanently agape, scared away his grandchildren.
Ten years after her father's death, Pam's brother Ron called her at work and began picking her brain about their Dad's early symptoms. Ron was 42 and the father of three. His youngest, a daughter, was 4. Ron lived for another eight years with the disease; seven of them were on a ventilator.
Sue was diagnosed in 2005 at the age of 46. She lost the use of her arms first. "It was pitiful to watch her walk around," Pam wrote. "Her arms gave you the impression they were tied to her body." Sue died in 2006, the same year as her brother Ron.
The following year, in 2007, they lost Rick, the joker in the family, at age 58. He left behind three children and two grandchildren. Linda hid her symptoms from everyone but her husband Terry, in part because her son, Ryan, had accepted a job in Germany and she didn't want to hold him back. "It was the hardest thing she ever did," Pam said. Linda died in 2011 at the age of 57. She left behind three adult children and now five grandchildren.
Pam likens ALS to Russian roulette: "One by one the bullet strikes you down."
By July 2009, Pam could not go on not knowing. "Mentally I was thinking, when am I going to get it?" she said. "The limbo was horrible."
Pam said she still gets goosebumps just thinking of that phone call. "The woman said: 'This is Emory Hospital and I have the results of your test. Would you like to go get somebody to be in the room with you? That's when my heart sank. I said, 'No. I can handle this." And then she said I didn't have it. I just started bawling uncontrollably. I said to her: you don't realize: today is my birthday."
She was so excited to tell her kids and grandchildren; it meant they were free of ALS, too.
Pam said her three remaining siblings — Bob, Mary and Ray — have chosen not to get tested. "They are dealing with it thinking whatever happens, happens," she said. "A couple are religious, and they just put it in God's hands."
She tries to be in involved in her siblings' children's lives, but it's hard. "People have their lives to focus on. Kids are growing up. Plus, when they see me, I feel guilty. I feel guilty because I'm here and their mom or dad is not."
And when family members ask her advice on testing, Pam said she gets stuck. "I want to say: right now, you're living in hell, pretty much and there is a 50-percent chance you can relieve that pressure. But see, I won the biggest lotto ever. I won the lotto of life. How do I give advice when they are looking at me saying, 'Well, easy for you to say.' "
It wasn't until they heard about Chuck, that the two families shared notes on ALS. Until then, Pam said, "We were thinking the other side of the family must be blessed." When the news came about Lucas: "We were crushed."
As for Chuck's five siblings, Bruce, 62, said he will not get tested. "Why would I want to find out I was going to die if there's nothing I can do about it," he said.
Barb Bardeleben, the oldest of Chuck's siblings at 66, was just diagnosed in April with breast cancer. While her doctor said the cancer is in remission, she doesn't see any merit in testing, either.
"I refuse to get any sicker," she said. "We can't have any more illnesses in this family."
For now, she keeps close tabs on her sister-in-law, Sallie Gutherie. She can't say enough about the woman who watched her brother deteriorate and now must watch her son slowly be taken from her.
"This right here," she said, gesturing to Sallie, "is the strongest woman I've ever known. She is a champion."
Brothers stand in for dad
On a recent Saturday morning, Lucas and his two stepbrothers Bob and Nick are dressed in their Sunday best and huddled in the vestibule of the chapel at Kensington Church in Troy.
"OK, listen up," Lucas said. "When the minister asks us: 'Who gives this woman to be wedded to this man?' We all say together: 'We do.' Got it?"
Since her father died, April asked all three brothers to walk her down the aisle. "There was no way I was going to pick between the three of them," she said.
As the pews began to fill, 20-month-old Layla, all dressed up and wearing an enormous pink bow, toddled down the aisle, oblivious to the adoring sighs made all the more poignant by her father's terminal illness.
Just then the chapel doors opened. The bride, looking enchanting in an off-the-shoulder white lace gown and veil, slowly made her way to the altar. Bob and Nick were on one side and on the other was Lucas in his wheelchair. They were proud of each other in their father's absence, proud of their beautiful sister, proud of their brave brother.
Every three months, Lucas and Shawna go to his ALS clinic appointment at UM. Most of the family goes with them, just like they did with Chuck. But that memory is bittersweet. They all know the road ahead is going to be brutal.
"It's just heartbreaking to me that he's not going to be able to grow old with me or see his daughter grow up," said Shawna.
For now, she is her husband's full-time caregiver. She helps him shower, dress, transfers him from the wheelchair to the bed or commode. She's planning ahead, anticipating when Lucas loses the ability to speak. "When we get to that point," she told April, "we're going to use a laser pointer with the alphabet."
While Lucas has signed up for every research study and clinical trial for which he's eligible, he does not ascribe to false hope. "There is no cure and there is no treatment," he said matter of factly. "There is only waiting. That's it. Waiting is all you have."
By all accounts, Lucas has uncommon courage and humility. "His acceptance of this disease is inspiring," Feldman said. "He is just a wonderful young man with truly remarkable inner strength."
When you ask Lucas if he ever thinks "Why me," he said he will not spend time on that which is beyond his control.
"All I hope is that I'm the last one. I'm taking it for the team."