Life-changing treatment allows Pembroke woman to cope with rare disease
Manzelli, a Pembroke woman who was teaching in Spain when the attack happened in 2008, went to a hospital after an attack that, for HAE patients, is the most dangerous — her airway swelled. Untreated, the swelling leads to asphyxiation and possibly death.
She was pumped with so many drugs that she came up with an imaginary friend named "sst, sst" that was named after the sound of the respirator keeping her breathing.
Spain and Italy
Manzelli has had to be hooked up to a respirator twice following attacks while traveling in Europe.
As bad as that was, Manzelli said a swelled airway on an earlier trip to Italy was even worse. Her friends left her at a hospital in Rome — again with doctors who didn't know how to treat her — to continue their travels.
She said she was given an inflatable bed and developed bedsores on her legs, so she checked herself out of the hospital "too early" and had to be rescued by her sister, Amy, who had to search Rome for her.
Amy, who said her parents didn't have passports at the time, took the call about her sister's problem at 3 a.m. She was on a plane to Rome seven hours later.
Amy helped nurse her sister back to health. Unlike her sister and brother, Chris, Amy did not inherit HAE, she said.
"The first answer is guilty," she said about her feelings of being free of the condition. "The second answer is really, really relieved."
On the outside, you can't tell Manzelli has a life-threatening hereditary disease. She looks like a perfectly healthy, normal 29-year-old married woman who aspires to join a roller derby team — "Manzilla" is a possible nickname — and loves her dog, Lucy.
"Just that uncertainty is killer," she said. "You just hope for the best; plan for the worst."
Manzelli lived with the unknowns until meeting Dr. Michael Lunn of the Allergy and Asthma Associates of Maine in Portland, Maine, who put her on a treatment of a C1 inhibitor called Cinryze that is for people with the most acute forms of the disease. The drug, which Manzelli has to self-infuse every three days, was approved by the FDA in 2008.
Prior to the treatments, "people didn't have many options," he said.
Those other options include steroids. Some of them work, but the well-known side effects of steroids make them an unattractive alternative, Lunn said.
"The swelling with HAE does not respond to those treatments," Lunn said. "If you go into most (emergency rooms) without a diagnosis, that's the way you're going to be treated."
Manzelli no longer has to call in sick because her hands have become balloons or an attack swells her face.
"I looked like a duck when that happened," she said.
When she gets a tickle in her throat or starts feeling nauseous, it's just the common cold or the flu.
But as she considers beginning a family with her husband, Juan, she admits she has some trepidations about the possibility of passing the disease on to someone else. She inherited it from her father, Tony, she said.
She said, though, that she is determined to live a normal life that includes children. The uncertainty of passing on her condition, as well as the unknown effects her treatments could have on a baby — Lunn said her treatment is much safer than steroids — have her falling back on her old philosophy.
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