NORFOLK — Former longtime Norfolk resident Patricia Brunn-Perkins has always loved the exercise of writing.
After graduating from Central Connecticut State University, where she completed the coursework for an M.A. in Community Psychology, Brunn-Perkins was employed as a nurse, a realtor, and an employment counselor for individuals with mental illnesses (for several years at the Prime Time House in Torrington). During that time she also worked as a freelance writer, contributing articles to publications such as Boston Magazine, Spotlight Magazine, and Military Lifestyle; and wrote the content of newsletters and websites for several nonprofit organizations; and produced material for B-to-B websites.
Now, Brunn-Perkins has launched herself into some serious writing, as well as a personal quest to make a difference against a dreaded disease, and has recently self-published a book, “Twisting Legacy,” which is set in Naples, Florida, where she has a home. She also lives in Southington, where she moved to several years after leaving her beloved Norfolk. “Twisting Legacy” tells the story of Ava, a woman coming to grips with the diagnosis of an incurable, hereditary illness (Huntington’s disease) and the lengths to which she goes to protect her loved ones from learning several stunning secrets she vows to take to her grave.
“After retiring I really began to think about writing a book,” she said, as she sat on the patio of a local restaurant recently. “I was always interested in science and I thought I would combine the two in this book.”
She continued, “I thoroughly enjoy the process of writing. It’s really when I’m in some of my happiest moments. I usually write about two or three hours each morning. It’s wonderful because I’m retired and I don’t have a schedule. I believe it is important to learn something every time you read a book. And I love the research involved in writing a book like ‘Twisting Legacy.’ It really broadens you as a person.”
Brunn-Perkins lived in Norfolk for two decades. She retains contacts there and visits the small Litchfield County town occasionally. “I had a lovely condominium, one of the few in Norfolk, near the center of town and it was a joy being there. I landscaped the property and made the yard aesthetically pleasing. I do miss the town very much and enjoy going back.”
An estimated 30,000 people in the U.S. have the same disease as the protagonist in “Twisting Legacy.” Those numbers could rise, as approximately 200,000 more individuals are at risk of inheriting the disorder from an affected parent. One of the largest populations grouped under the heading of rare hereditary diseases, afflicted individuals wait not only for a cure but also for help in meeting their clinical needs. In the meantime, family members shoulder most of the care giving responsibilities that can last 10 years or more.
Huntington’s disease is a genetically transmitted neurological illness caused by a genetic stutter, a stretch of DNA that is repeated over and over at one end of a gene on chromosome four. A progressive disorder of the brain, Huntington’s disease affects how people think, feel, and move.
There are two types of HD: adult-onset and juvenile. The adult-onset form — the most common — usually strikes people in their 30s and 40s. The symptoms of HD vary from person to person Early symptoms can include psychological changes, such as depression or irritability; cognitive changes such as difficulty learning new things, remembering, and making decisions; and changes in motor ability such as coordination difficulties and the onset of small involuntary movements.
As the illness progresses and more areas of the brain are affected, the HD-afflicted individual’s psychological, cognitive, and motor functions worsen. Involuntary jerking, twisting, and twitching movements, referred to as chorea, become more pronounced. There is a decline in the individual’s ability to walk, talk, and swallow. The cognitive functions of thinking and reasoning decline and psychological changes can run the gamut of mental illnesses. The average individual with HD lives for 15 to 20 years after the onset of symptoms.
Juvenile Huntington’s begins in childhood or adolescence and is less common than the adult-onset form. Like adult-onset HD, juvenile HD also causes motor, cognitive, and emotional changes. Motor symptoms such as clumsiness, slurred speech, rigidity, or drooling begin to manifest and the cognitive abilities of thinking and reasoning decline. Psychological changes may translate into behavioral difficulties. Thirty to 50 percent of children will have seizures. This form of HD progresses more quickly than the adult-onset type and affected children can live from 10 to 15 years after the onset of symptoms.
“Twisting Legacy” brings this genetic disease into focus through a story that “makes readers smile, cry, celebrate, and hope.” Brunn-Perkins believes that patients, their families, and the medical community are eager to see the attention the book will draw and optimistic that it will spark renewed vigor in the search for better ways to manage the disease and perhaps even find a cure. To assist in this effort, the author has pledged to donate 20 percent of the 2019 profits from her book to one of the several non-profit organizations that support research into the illness.
As a young nursing student assigned to a facility for patients with chronic disorders, the author encountered Huntington’s disease for the first time. The courage demonstrated by her severely debilitated patient made such a lasting impression it became a primary impetus for her book.
Without giving away too much of the story, the protagonist, professional pianist Ava Skinner, is living a near-idyllic life with her husband, Langdon, in their Naples, Florida mansion until disturbing symptoms cause her to feel and behave uncharacteristically. She finds the orphanage where she was reared to search for information about her family, especially a medical history. She discovers an unopened letter from her mother, Isabella, who writes about a tragic family legacy. After a doctor confirms Ava’s worst fears and reveals a second shocking surprise, she hides the revelations from her husband and makes plans for the future.
Ava travels to Maracaibo, Venezuela, on the pretext of searching for information about her family. She locates a cousin in the terminal stage of the family illness that rampaged through several generations of the family as its members migrated from Venezuela to Florida.
The novel is set, as mentioned, in two different cultures — Florida and, Venezuela — and also provides as a subplot the contrast between the rich and the poor and touches on the plight of migrant farm workers. A realistic picture of the psychological burdens borne by individuals who suffer from terminal or chronic diseases and the effect their struggles have on the members of their families is woven into the story. “Twisting Legacy” puts a face on a little-known, hereditary disease, including finding the causative gene, managing the illness, and counseling individuals at risk. Despite progress, there is still no cure.
Author and editor, David M. Carew, said, “Compulsively readable and deeply heartfelt, Twisting Legacy casts a poignant, illuminating light on the scourge of one particular genetic disease and the courageous people who are forced every day to deal with its inhumane ravages.”