Christy's story: A dark journey into hope
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The voices are friendlier now. They echo through Christy Parson's mind, bearing the words of a favorite therapist, a medications nurse, her sister. Gone are the strident hallucinations — the ones that taunted her, told her she was stupid, drove her to despair.
"The voices are talking about the fantasy of my life," she said, seated happily in a recreation room of Western State Hospital in Steilacoom, Pierce County. "They don't threaten me."
Christy Parson, 36, has battled the vivid delusions of an illness like schizophrenia all her adult life. They were the worst of a galaxy of medical problems that have haunted her since birth — problems caused by a relatively common genetic defect that most people have never heard of.
The disorder, called velocardiofacial syndrome, or VCFS, affects as many as 1 in 4,000 people in varying degrees and is implicated in an astonishing 185 problems — from heart defects to cleft soft palate to learning disabilities and psychiatric disorders.
Now Christy's torment has given way to hope, thanks to University of Washington scientists who discovered that a 30-year-old medication could calm her psychoses.
One of those scientists is Bill Parson, a professor of biochemistry — and Christy's father.
He and his wife, Polly, devoted endless hours to finding help for Christy's problems — first the physical, then the mental. Their search led them to countless doctors, all the way to the East Coast, then back to Seattle, where they found Dr. William Graf, a pediatric neurologist who has long been fascinated with the link between brain chemistry and mental illness. Together, Parson, Graf and seven colleagues studied Christy and four other VCFS patients, tracing their illnesses back to a single genetic mishap. Their research was featured recently in the medical journal Neurology.
Christy's struggles are far from over. She is reluctant to leave the security of Western, and her doctors don't know if her progress will prove lasting.
But her family's journey has led to a discovery that holds promise not only for her, but for thousands of others who share her disorder.
THE EARLY YEARS
Chapter 1: Christy is born struggling, and physical woes keep unfolding. Her parents teach her to fight back.
Bill Parson is a modest, quiet-spoken man who tells his daughter's story in the clinical language of a scientist — and the heartbreaking language of a father.
"We understood that no one really understood her problem and we wanted to keep working on it," he said.
That simple statement does little to describe more than three decades of physical, mental and emotional turmoil that Christy — and her parents — suffered as they hunted down the source of her torment.
The more common physical manifestations of velocardiofacial syndrome often are treated in early childhood. So physicians seldom recognized them as part of a genetic defect: The problem would be fixed and the child's life would go on — until another problem developed.
It is a pattern that became all too familiar to Bill and Polly Parson as they watched their daughter suffer wave after wave of physical disability, only to be trumped by severe mental illness.
"We always thought the problems were independent of each other," said Bill Parson. "We always thought, how much bad luck can one person have?"
Christy was diagnosed at birth with a cleft soft palate. Formula and medicine would pour from her nose when she tried to suck. Her parents used a variety of nipples, with different-sized holes, to coax her to eat.
She also was born with small, cup-shaped ears and needed surgery to fix problems stemming from a missing piece of cartilage. Her first Halloween costume was a bandage around her head with a green ribbon on top.
But with every fix came a new problem. The problems grew worse with time, and involved just about every part of her small body.
Both Christy's kidneys were jammed on her left side, and only one was functional. She favored her right side and couldn't crawl; a neurologist diagnosed cerebral palsy with partial left-side paralysis. Her left leg was shorter than her right. She was diagnosed with partial hearing loss and had speech problems stemming from her cleft palate. She had difficulties learning.
But for all those deficits, Christy had two big plusses: Bill and Polly Parson. They were determined their oldest daughter would reach whatever potential she had. They pushed, cajoled and innovated in ways big and small.
When a Philadelphia children's hospital declined to give Christy physical therapy until age 3, the Parsons did it themselves. Each day, they helped their daughter do tedious exercises to help her weak, floppy muscles gain function.
When Christy played pat-a-cake by slapping her mobile right hand against her static, uplifted left, they cried with joy. "It was our first real indication that she knew she had a left hand," Polly Parson said.
When Christy wasn't talking by 22 months — a common early problem stemming from cleft soft palate — and a neurologist said she was mentally retarded, the Parsons rejected the quick diagnosis. They lined up a box of crayons and had the doctor ask her to identify the colors. She pointed correctly to each one — and he said no more about retardation.
"Labels ... can be a dangerous thing," Polly Parson said. "They might make you not push so hard, they might make you not have expectations."
When speech therapy failed to make Christy's nasal tones easier to understand, the Parsons found a doctor to recommend a device that pushed up on the palate in her mouth. And when that didn't work, they learned of an operation that enabled their daughter, finally, to speak more clearly.
Like all VCFS patients, Christy had difficulties with math and abstract thinking, so the Parsons focused on teaching her to read.
Night after night, they coaxed her to read from book after book: "Goodnight Moon," "The Cat in the Hat," "Charlotte's Web." Dad would read one word, Christy would read one. Two more sentences meant five more M&Ms. Experts who tested her in fourth grade were astounded at her ability. By high school she was reading faster than her parents — as many as three books a week.
The Parsons' love of the outdoors was employed to help Christy gain physical stamina and determination. She started hiking when she was 7. She had to walk tiptoe on her left foot to balance her longer right leg, yet managed rocky paths and log bridges with help and always reached her destination. Again, M&Ms were excellent bribes, as were stories told along the trail. By age 10, she could handle 10-mile day hikes. She has backpacked 25 miles in the Olympic Mountains.
Such encouragement paid off in self-sufficiency. Christy traveled around Seattle by Metro, and took a series of buses home from school. She traveled alone out of state to see relatives. And for four summers in high school, she held jobs through Seattle Summer Youth Employment, including work in child care, at a weaving workshop and at a puppet theater.
Through her trials, Christy has maintained a gentle, caring quality. It is a trait many parents have observed in children with VCFS. It springs, Bill Parson says, from remarkable insight.
"She is very astute about others' feelings," he said. "She'll look at you and say, 'Are you all right?' She'll sense when someone's unhappy. She's just very good at reading someone's facial expressions and body language."
But she struggled socially. She was different and she knew it.
She was self-conscious about the limited use of her left hand, her continuing speech problem and hearing loss. In high school, she grew her hair long to cover half her face. She had a few friends, but her best companions were her books, her diary and Broadway musical tapes.
Despite her limitations, she graduated from The Northwest School, a private, academically rigorous college-preparatory school in Seattle, and later completed 1-½ years of community college.
Those proud accomplishments were soon clouded when, at age 19, the early signs of mental illness presaged what would become Christy's biggest challenge yet.
DESCENT INTO ILLNESS
Chapter 2: Psychoses transform a gentle high-schooler into a tormented mental patient.
Velocardiofacial syndrome is also known as The 22q11.2 Deletion. The daunting name comes from a genetic accident that occurs at conception.
Human cells all have 23 pairs of chromosomes, except sperm and eggs, which each have 23 that are not paired. At conception, each of the 23 in the sperm pairs with the corresponding chromosome in the egg.
The 22q11.2 Deletion occurs when chromosome 22 doesn't pair up quite right with the other. The chromosomes don't align correctly, and that leaves a piece of DNA with several genes hanging out without a partner. They are therefore "deleted" to some extent; thus, the blueprint for a new baby may have errors — from minor ones such as a mild heart defect to a cluster of disorders as serious as Christy's.
Most often, the deletion happens only in the person it affects. Only about 10 percent of the time does a parent also have the defect; then there is a 50 percent chance it will be passed on to a child. Neither Bill nor Polly Parson has the deletion, nor does their younger daughter, Wendy.
Scientists now think the schizophrenialike illness that so devastated Christy Parson is at least partly caused by the brain's biochemistry being disturbed by the genetic deletion. Faulty brain development also may be a factor. The defect indirectly causes her brain to have an over-abundance of dopamine — one of the chemicals that conduct electrical impulses between brain cells. That, in turn, causes her thoughts to crumble into nightmarelike delusions.
Christy's first symptoms appeared sporadically when she was a senior in high school. One day she found herself in a classroom without remembering how she got there. In a Mexican restaurant, she told her dad that people across the room were talking about her. She increasingly laughed to herself and had trouble carrying on a focused conversation.
And one frightening spring morning, she was certain a man had appeared in the shower with her.
It was the beginning of years of mental torment. Within months, Christy's delusions grew severe, sending her into fits of desperate sobbing or hysterical laughter. Physicians call them "emotional storms."
"The hallucinations were mostly negative. The voices would tell her, 'You're retarded, you're stupid, you fart, you smell,' " Bill Parson said. "And she would shout, 'I'm not stupid! I don't smell!' She would project the voices onto others. She would think others were insulting her."
In one particularly bad 10-month period when she was 20, Christy banged on walls to quiet the voices, was certain she smelled burning flesh and searched the attic for people she thought were scheming against her. When she looked in the mirror, she would see a man or another woman, a symptom called jamais vu — French for "never seen." She was afraid to sleep at night because she thought she would change sex. She begged her parents to help her suffocate herself because she couldn't stand it any longer.
"We would tell her it's not real, and it would just make her so angry," Polly Parson said. "It was all so real to her, there was no way to convince her otherwise."
When Christy was frustrated with her parents' inability to understand, she threw books or other objects at them and cursed them. It was a stark departure from her normal, loving disposition.
The hallucinations and fears began to rule her life. She would call police to the family's Windermere home, certain she was about to be attacked or that the house was filled with dead bodies. Her parents periodically had to disconnect the phone. She refused to eat, convinced her parents were trying to feed her a dead cat.
Christy also had obsessive-compulsive periods. She frequently rearranged pictures on the wall and stacked books from all over the house in her room. She filled notebooks with an illegible scrawl and scribbled furiously in the books or on the furniture.
Psychiatrists said Christy had symptoms of schizophrenia, although she didn't fit the classic pattern of the illness. She also had symptoms of obsessive-compulsive disorder, depression, and "rapid cycling" bipolar disorder — quickly changing periods of mania and deep depression.
At various times, Christy was prescribed, individually or in combination, 21 anti-psychotic drugs: 13 to calm the delusions, four for anxiety and four for depression. Six others were prescribed for seizures, and four for various physical problems.
Sometimes a medication worked well — for a while. An anti-delusional drug enabled her to move out of her parents' home and into a community mental-health facility for nearly four years. But like all the other medications tried, its effectiveness wore off.
Other drugs proved disastrous. One anti-depressant caused her to wander unannounced into neighbors' homes, saying she was looking for something or somebody that was "missing."
Bill and Polly Parson were left exhausted from the episodes. Their hopes for their daughter rose and fell with each drug. "We always hoped the next medication would work," Polly Parson said.
But Christy's agitation and paranoia only grew through the years until, finally, she was admitted to Harborview Medical Center's psychiatric ward for 40 days. More medications were prescribed, to little avail. In June 1997, Christy was transferred to Western State mental hospital. She was 32.
A GLIMMER OF HOPE
Chapter 3: A Seattle doctor speculates that a genetic disorder is at the root of Christy's physical and mental problems. When his hunch proves correct, he and Christy's father work together to test a medication that might help her and others.
Seeing their daughter in a state mental hospital was unsettling to the Parsons. But the mystery of her illnesses was even more distressing.
So with the same determination they had used to strengthen her muscles and teach her to read, they made one last effort to find her help. There was a private psychiatric-research hospital in Polly Parson's hometown of Belmont, Mass. Polly asked her sister, Priscilla Cogan, a clinical psychologist who lived there, to tour the hospital on their behalf.
That tour resulted in a chance encounter that at last would lead to some answers about the source of Christy's many troubles. Cogan met a neurologist, who suggested that Christy be referred to a pediatric neurologist. Because of their focus on infants and children, such specialists often are more aware of some congenital problems.
The suggestion led the Parsons back to Seattle, where they found William Graf, then at Children's Hospital & Regional Medical Center. After a 30-minute telephone conversation with Polly, Graf speculated that Christy might have VCFS. A genetic test confirmed it was the root of her problems.
"The (Western State) psychiatrist was surprised by this unfamiliar diagnosis, but we were thrilled beyond words to have an answer," the Parsons wrote in a chronicle of their daughter's life. "Suddenly after 32 years of searching, we could see all of Christy's problems as part of a single chromosomal disorder. Now we could ... think more rationally about ways of addressing the psychiatric disorder that had become Christy's most devastating problem."
Graf became fascinated with Christy's psychoses. He was a biochemistry major as an undergraduate and has been studying the chemistry of the human nervous system for more than 20 years. It has been a linchpin of his approach to diagnosing and treating a wide range of disorders.
"As a neurologist, I look at very rare problems and think about what's possible," said Graf, who recently left Children's to help establish the Bellevue-based ACCORD Foundation for treating children with rare developmental disorders.
Scientist to scientist, Graf and Bill Parson discussed the biochemistry of Christy's mental illness and seizures. They agreed an overabundance of dopamine was the likely culprit. And they thought that traced back to an insufficient supply of an enzyme called COMT, which keeps dopamine at normal levels. That, in turn, was the result of the genetic deletion.
Graf recalled studies about a 30-year-old medication called metyrosine, used to treat severe movement disorders and the overproduction of a chemical cousin of dopamine in patients with adrenal-gland tumors. Years ago, it was tried, with limited success, on schizophrenia patients. Might it work in VCFS patients?
Graf and the Parsons, with the consent of Western State officials, started Christy on metyrosine. Then Graf recruited four other VCFS patients — teenagers for whom conventional medications had failed — for a study of treatment with metyrosine.
The 16-week study yielded promising results: In three of the patients — two with severe psychoses — symptoms subsided significantly with the medication, and increased when it was withdrawn. Decreased levels of dopamine metabolites in the spinal fluid seemed to indicate metyrosine had decreased dopamine production — a finding consistent with other metyrosine studies in rats. The fourth patient showed no improvement and stopped taking the medication.
Two of the three patients continue to take metyrosine today. One, a 23-year-old Tacoma man who had milder VCFS symptoms, graduated from an occupational-training college last summer, lives independently and works as a server in a school cafeteria.
The third patient improved significantly for more than a year, then inexplicably regressed and stopped taking the medication when she moved to a new care facility. She likely will try the drug again, her mother said.
Graf, Parson and scientists not involved in the work say their study is only a first step toward establishing metyrosine as a treatment for the psychiatric disorders linked to VCFS. Researchers are contemplating a more carefully controlled study of a larger group of patients, using more formal psychiatric evaluations and brain-imaging studies.
"Their (recently-reported) study gives enough encouragement that someone ought to do more," said Dr. Alan Percy, a University of Alabama professor of pediatric neurology who discussed the importance of the study in an editorial in the journal Neurology.
Percy says the Graf study also is important because it provides further evidence that brain chemistry and mental illness are linked.
"It is artificial to separate psychiatry and neurobiology, saying one is organic and one is of the mind," he said. "It all relates to biological processes going on in the brain."
EPILOGUE
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The mixed-up chemistry of Christy's brain has improved substantially. But she is still bothered by unwanted intrusions. One is vivid and persistent.
"I feel like I'm hallucinating an ocean in my left eye a lot," she said. "I see a bright light in my left eye."
Sometimes she still hears voices. The voice of her younger sister tells her she has more boyfriends than Christy has. The voice of a teacher tells her she should climb stairs, which always have been a fear. And she worries sometimes because "it feels like I have another foot underneath and that foot has skin peeling off of it."
But walk with Christy out into the halls of Western State's Ward C15 and it is clear she feels comfortable and secure there. She has made it her home and is eager to introduce you to the family she shares it with.
She introduces fellow patients, a medications nurse, three other nurses, an occupational therapist. She introduces her two sleeping roommates. Everyone knows Christy and likes her — a testament to the friendly nature and empathy her parents say she has always had, despite her troubles.
She carries a romance novel as she strolls the halls. One of her patient-friends endorses it as being "better for her than those scary books." But Christy says, "I've been reading lots of mysteries, because I feel like I'm in a mystery so often."
She chatters about hospital activities. She sports a colorful bracelet she made in crafts class, she loves singing karaoke and she points out the building where she won an award "for throwing something" during a recent carnival.
With gentle nudging from her parents, Christy has begun thinking about leaving Western State someday, about living in a group home or on her own. For now, though, the prospect makes her anxious. It is easier to work toward more independence at Western State so she can venture out unaccompanied more often.
At a nearby restaurant she often visits with her parents, she recalls her childhood struggles with VCFS and says someday she might like to write a book about it. Then she talks about her favorite books and how she identifies with Anne Frank and Christopher Reeve.
Their struggles have special meaning for her. She knows them by heart. She repeats her favorite quote from "Anne Frank: The Diary of a Young Girl":
"I still believe, in spite of everything, that people are truly good at heart."
Warren King can be reached at 206-464-2247 or wking@seattletimes.com.