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Grand Junction, Colorado
Grand Junction — Connie Perea cries when she talks about her three granddaughters, ages 7, 5 and 1 who live in Steamboat Springs.
Connie, 43, doesn’t expect to be around to see them grow up. She wishes she could see them more.
Connie’s speech has become hard to understand, although her son and husband can interpret what she says. Her arms and torso jerk involuntarily almost constantly. She’s often emotional.
Like her father and his father before him, Connie has Huntington’s disease, a fatal degenerative neurological disorder.
The hereditary disease causes involuntary movements, severe emotional disturbance and cognitive decline. Eventually, people lose their ability to swallow.
There is no treatment.
Death follows after 10 to 25 years of symptoms.
Connie and Pablo Perea, have been married 27 years. About 10 years into their marriage, Pablo, 49, started noticing the signs of the disease in Connie. Connie was diagnosed with it in 2000.
Connie and Pablo have two children, a son, Matthew, 23, and their daughter, Amanda, the mother of their three granddaughters.
Technology has enabled their children to be tested to see whether they carry the Huntington’s gene.
Matthew was afraid to get tested. But Matthew wanted to know. Fortunately, the test came back negative.
Testing for the gene that carries the disease didn’t exist until 1993.
After years of not wanting to know, 25-year-old Amanda got tested on Thursday. She’ll learn the results in a few weeks.
The slender woman, still young, still pretty, is losing cognitive skills as well as control of her body. It’s easy to sense her frustration. She gets choked up when she says she’s dying.
Connie can no longer feed or take care of herself. She’s gradually losing her memory. For the first several years, Pablo and Matthew took care of Connie by themselves.
For the past two years, they’ve had the help of home health care through Rocky Mountain Nurses. While Pablo’s at work, a certified nursing assistant, a registered nurse or a personal care provider comes to the house five days a week. They cook for and feed Connie, give her baths, do laundry and keep her company. Pablo’s grateful for the help and the ability to continue working a job, bringing in income.
When he gets home from work he takes over caring for Connie.
Eating is difficult.
“I choke a lot,” Connie said.
Pablo has performed the Heimlich maneuver on her several times.
Choking is a common way for Huntington’s patients to die. So is suicide, which is how Connie’s father died.
Connie falls often. She has a wheelchair, but she prefers her walker, and she’s stubborn. Pablo shows where he replaced the front window in their mobile home with Plexiglas recently, after Connie fell through the glass.
Making it work
Pablo is also grateful for his employers at Minova USA — a company that makes resin cartridges and mining supplies.
Pablo has worked there 27 years. His bosses are sympathetic and have been understanding when he’s had to leave early. A boss’ wife visits Connie, fixes her hair, takes her outside.
Years ago when Pablo started noticing early symptoms, he started making preparations for the rest of their lives together. Huntington’s disease often tears couples apart.
Pablo looked into Social Security income that would pay for home health care. Connie didn’t qualify because she didn’t have enough of a work history.
“I stayed home to care for my babies,” Connie said.
They found out the hours they needed to accumulate to qualify for Social Security income, and Connie — who was in the early stages — and yet to be diagnosed — went to work.
She worked at a Diamond Shamrock store for three years, and then at K-mart, to earn the hours necessary to get the income. Eventually she started falling at work and had to quit.
“We barely cleared it because she was a homemaker,” Pablo said. “We were really struggling at that point. Me and Matthew trying to hang on.”
Understanding the disease
It’s one of those diseases still not widely known, said Matthew.
The symptoms of Huntington’s disease often look like Alzheimer’s, multiple sclerosis or Parkinson’s disease.
Connie’s brother, Robert Gilleland, lives next door with their mother and step-father. Robert was diagnosed with Huntington’s disease in 1999. Two other sisters don’t have the disease.
Although Robert can’t drive or live on his own, he doesn’t have as many of the involuntary movements as his sister does. He walks all over town. He goes to restaurants where he’s often mistaken for being drunk.
That infuriates Matthew.
“Numerous times my uncle has called me because he’s been kicked out of places — they think he’s drunk — even though he has a card that says he has Huntington’s disease,” Matthew said.
It is a relatively rare disease, said Joel Dean, a Grand Junction neurologist. Dean said he’s seen about 10 cases in the 20 years he’s practiced.
Although symptoms generally appear when people reach middle age, children and the elderly can come down with the symptoms also. Dean currently has two patients, age 30 and 45, who have Huntington’s disease.
In the U.S., approximately 10 of every 100,000 people have the disease, according to Neurology Now magazine.
Another 150,000 people are at risk. Each child of a parent with Huntington’s disease has a 50 percent chance of inheriting the disease.
Reach Sharon Sullivan at email@example.com.