A deadly disease runs in the family; What do you do?
BUFFALO, N.Y. – The call came at eight minutes to two on a Thursday afternoon. Linda Wilkey was wiring lines in the workshop at the Bell Atlantic plant when her husband phoned from home.
”Listen to this,” he said, pushing play on the answering machine. ”I don’t want to screw it up.”
”This is Julianne Stevens-Harvey from the genetics department at Children’s Hospital,” came a chipper voice. ”Would you have Linda Wilkey call me?”
Frank Wilkey pulled the phone back to his ear.
”That was the phone call you were waiting for, wasn’t it?” he said.
”Yes,” his wife answered. Then she burst into tears.
Linda Wilkey and her three children and three grandchildren are a twig on a family tree with branches in Toledo, Ohio; Allentown, Pa.; Saginaw, Mich.; and some far-flung places they can’t find on a map. They know the Crawleys and the Korhummels. They can’t place the Rendinas and the Kronzes.
They are as different as their names, and rarely see each other. Except, that is, at funerals, and there have been plenty of those.
Funerals are what tie this family together most. Twenty-one people in six generations have died from a single illness, amyotrophic lateral sclerosis, or ALS, known as Lou Gehrig’s disease for its most famous victim. Doctors say theirs is among the hardest hit families anywhere.
Inevitably, more deaths will follow. The family is cursed with a defective gene that makes them abnormally susceptible to this rare disease. Every clan member whose parent carries the gene has a 50 percent chance of inheriting it. Nine of 10 carriers can expect the disease to strike before age 70. There is no treatment, and those stricken with this inherited form of ALS usually die within two years.
The odds force every relative – from teenager to retiree – to come to terms with the family disease.
Wilkey is 51, a mother who drives a Dodge Ram 4×4. A strong-willed blue-collar technician, she has been with the phone company since she turned 20, ordering parts, dispatching service workers, climbing ladders to wire lines.
A few months ago, though, Linda Wilkey took up painting – landscapes of the little mountains that ring Buffalo. This is her therapy.
Her oldest sister, Ronnie, died of ALS in October, seven years after her sister Marilyn, 19 years after her sister Mary Ellen, 36 years after her father Bill. Ronnie’s death got Wilkey thinking: If everybody else in her family had gotten it, could she escape?
She was worn thin from driving the half-hour to Ronnie’s house and helping to care for her. She was tired of funerals. And she was tired of the disease being there all the time.
When her son took her to sign up at a health club, she stopped at the section about lifetime memberships. What happens, she asked the young clerk, if I get sick? Can I give it away?
”How many people ask that?” she says.
She and her husband didn’t know about ALS when they had kids. Now, the Wilkeys had new questions.
Should she retire early? Might she have passed the disease on to her own children? Her grandchildren?
So one day, she just decided – no family meetings, no calls to the kids – to get the test that would tell her if she carried the gene.
Getting the information wasn’t as simple as she expected.
First came a meeting with a counselor who probed whether she was prepared to hear the answer. Some who have had the test and heard bad news ended up depressed, suicidal or obsessed with the ”when” question. Some who got the good news became consumed by survivor’s guilt or by regret over how needless fears swallowed up whole years.
The test ”would just tell me something I thought I had all along or it’s going to relieve my mind,” Wilkey figured. ”It’s not going to change anything.”
On Oct. 11, she had blood drawn for the test.
A month passed. Then three. She called for the results. No answer, the counselor said. She’d page her with news.
Not until the first week in February did the call come from her husband.
If you’ve ever worried about how the end might come – a heart attack? car wreck? cancer? – you have an inkling of what descendants of Harriett Weaver live through. The difference is that they’ve peered around that corner, ever since that 19th-century forebear died of what the doctors then called ”creeping paralysis.”
Other diseases, including Huntington’s, are passed on with the same genetic efficiency. Few are so deadly as ALS.
It starts with a twitch or weakness in a hand or a leg. Then paralysis spreads. The patient can’t swallow, sneeze, walk. Hands become useless, limp and gray. The mind remains clear as death comes.
”It doesn’t scare me to die,” Wilkey said. ”It scares me to die that way.”
Some Weaver descendants find ways to put Lou Gehrig’s behind them, to treat it like any other disease they could get. They have children and carry on normal lives.
Others think about it every day.
Annie Korhummel, a Wilkey cousin and an oceanography teacher outside Buffalo, is one of them. When her father came down with ALS 10 years ago, she collected the family’s blood for researchers, coaxing samples from relatives she had never met.
”We’ve sacrificed enough,” she would pitch. ”I think it’s time we start saving our family.”
The samples joined hundreds sent to Dr. Teepu Siddique at Northwestern and Dr. Robert Brown at Harvard. Theirs was among the largest families to contribute, and researchers called their help ”instrumental” in the 1993 discovery of a gene responsible for some cases of familial ALS.
Among the blood donors was Brenda Rendina, a distant cousin of Wilkey’s. Rendina and her brother, Michael Kronz, wrote Hillary Clinton and called scores of scientists searching for a treatment for their dying father. Once, they showed up unannounced at a drug maker’s offices hoping to get him into an experimental-drug study.
”My brother spent hours on the phone trying to find something,” Rendina said. ”We found nothing.”
She didn’t easily get over it. A slim, sensitive 41-year-old mother from Allentown, Pa., she runs a successful embroidering firm with her romantic partner. They live in an old farm house. Chicks wander in the yard, amusing their 7-year-old daughter.
But there’s this cloud. As a child, Rendina watched her Aunt Loretta die of Lou Gehrig’s disease. In 1990, Aunt Marge succumbed. Then her father. The possibility – the probability – terrified her.
She very nearly fell to pieces last year when she twisted an ankle. Everyone in the family knows the stories about a minor injury seeming to trigger ALS. So Rendina’s first thought was, ”This is the beginning of end.”
A week later, the twitching started. In bed, every muscle jumped. She called a neurologist for an appointment.
Then, mysteriously, she pulled herself together: I can’t get this, she told herself. I’m not ready.
The twitching faded.
She canceled the appointment.
How ALS strikes is mostly a mystery. What is known is that it is a neuromuscular disorder that breaks the connection between the brain and the muscles. Voluntary movement disappears.
About 5,000 cases appear annually. Ten percent are handed down in families. Ninety percent are ”sporadic,” without a known connection to heredity.
Scientists have found a gene – a faulty SOD1 gene – responsible for one in five cases of familial ALS. Normal SOD1 genes produce proteins that rid the body of ”free radicals,” which destroy nerve cells. Wilkey clan members who have died of ALS have a mutation that leads their bodies to produce faulty proteins.
Scientists have known this since discovering the gene in 1993. Now, people could be tested for the defective gene.
”Why would you want to know?” said Betty Malloy, a 76-year-old family matriarch who lost a husband and two kids to ALS. ”Some people, there’s no way they can cope with it. You have to have a heart like a rock.”
Dee Chiplock, a niece of Linda Wilkey’s who tested positive for the gene in 1995, is sometimes offered as an example. The 35-year-old mother of two got tested as soon as scientists found the gene. She had good reasons: She was pregnant, and she had connective tissue disease.
How could she make responsible decisions without knowing if she was a carrier?
When the tests came back positive, ”my world crashed,” she says.
She quit her job as an account executive to spend every moment possible with her kids. She moved from Washington, D.C., to Saginaw, Mich., so her husband would have a two-minute commute. She started eating healthier, taking vitamins, avoiding vigorous exercise.
But for four years, she has refused treatment for her connective tissue illness, worried the drugs might trigger ALS.
Finally, in January, her doctor persuaded her to take an immuno-suppressant, and it’s helping.
Still she worries: ”Am I leaving myself open for ALS to take hold?”
In 1981, a year after her first sister died, Linda Wilkey went to the doctor. Her eye was twitching uncontrollably.
”Why are you here?” the doctor asked her. ”You’re fine. Take some B vitamins.”
”See?” Wilkey says. ”It plays with your mind.”
Sometimes, when thoughts turn to another dying relative, worry turns to dread.
Wilkey and her family have had to help dying relatives eat, dress, bathe, use the bathroom. One remembers crawling into bed with a dying aunt to keep her warm.
Still, not knowing for sure if she carried the gene sometimes has helped Linda Wilkey keep the illness at arm’s length. Fear of finding out the worst kept her from taking the test.
Then came Ronnie’s death. The shock of another sister dying from it somehow that changed everything. She knew she had to be tested.
But when the call came on Feb. 2, Wilkey froze. She did not want this news. She worked on for an hour, then a half-hour more. At 3:15 p.m., she turned to a coworker.
”I have to make a phone call,” she said.
”THAT phone call?” he asked. He squeezed her hand as she picked up her phone. Stevens-Harvey, the genetic counselor, answered and got right to the point.
”You don’t have it,” she said.
”Thank you, thank you, thank you,” Wilkey whispered as the counselor rattled on about how, even though she didn’t have the gene, she still had the same remote chance of getting ALS as anyone else. This was the fine print.
Wilkey called her husband. He didn’t pick up. He was petrified. So she left the news on the answering machine.
Next, she called Frankie, her oldest son.
”It’s time to party!” she said. He was confused. ”Frank, I don’t have the gene.”
”I’m happy for you,” he said.
”I’m happy for you, too,” she answered, knowing she could not have passed it on to him.
Four unceremonious hours later – after a stop to buy cigarettes and a visit to Mighty Taco for dinner – she got home and found her husband on the couch. He’d heard her message. She went on her knees and hugged him.
In their corner of the family tree, the specter of Lou Gehrig’s has been vanquished.
Still, there is a measure of guilt. As their fantastic news arrived, a cousin of Linda Wilkey’s father was dying in Toledo, Ohio. Larry Weaver, a funeral parlor worker, saw Lou Gehrig’s take his father and his sister both at age 49. Now at 63, it was his turn.
Harold Weaver, his brother and caretaker, summed up Larry’s view: ”Just accept it. Because there isn’t a damn thing you can do about it.”
Larry Weaver died Feb. 28, six months after the diagnosis.
On the Net: ALS Association: http://www.alsa.org
End Advance for Sunday, March 26