Life-changing treatment allows Pembroke woman to cope with rare disease
By TIM BUCKLAND New Hampshire Union Leader
PEMBROKE — Jenny Manzelli suffers from a heredity disease so uncommon that, while lying in a hospital bed in Spain a few years ago suffering from an attack brought on by her condition, her doctors tried to find treatment options in a Wikipedia article.
It's called hereditary angioedema, or HAE for short, a rare disease that, when it attacks, causes swelling of just about any body part. The attacks are random, debilitating and can happen at any time.
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.
The doctors, unsure of what to do, hooked her up to a respirator. While she speaks Spanish, she couldn't get them to understand her condition because she didn't bring a set of paperwork that explains fully what HAE is and how to treat it. The doctors, armed only with that Wikipedia article, put her in a medically induced coma for four days after normal, and useless, allergy medicine didn't work.
"We saw it in their hands," she said of the Wikipedia article. "And that's when I said, 'Oh God. I'm done for.' I'm so happy I can laugh about it now."
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.
Now, though, she is on a course of treatment that has controlled her disease and left her attack-free for 18 months. She is able to live normally, but her painful, and even near-death, experiences have led her to advocate that people with HAE get treated and bring their information along whenever they travel.
"Any study-abroad students, or if you're going to work abroad, have a letter, in that native language, describing HAE and how to treat it. Your doctor can give that to you," she said.
Spain and Italy
Manzelli has had to be hooked up to a respirator twice following attacks while traveling in Europe.
In both cases, medical staff couldn't figure out how to help her, with Spanish doctors resorting to the collaborative, online encyclopedia Wikipedia, rather than medical journals.
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.
"I felt so alienated because I was alone. I was totally alone for that one," she said.
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.
"I don't speak Italian," she said. "In Spain, at least I could speak the language, but in Italy — that was even more nerve-racking."
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.
"I decided that as fast as humanly possible, I was going to go to Rome," Amy said.
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."
But you look normal
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.
But a few years ago, she lived in fear of the constant unknown of when, and where on her body, the next attack would happen.
"Just that uncertainty is killer," she said. "You just hope for the best; plan for the worst."
According to the Hereditary Angioedema Association, or HAEA, "HAE patients have a defect in the gene that controls a blood protein called C1 Inhibitor. The genetic defect results in production of either inadequate or non-functioning C1-Inhibitor protein."
That defect can cause a biochemical imbalance that produces unwanted peptides that cause capillaries to release fluids into surrounding tissue, causing swelling. It can happen nearly anywhere on the body, including the airway and the abdomen, which results in debilitating pain.
People with the condition have a 50-50 chance of passing it on to their children, Manzelli said. For example, Manzelli's sister, Amy, a Concord attorney, does not have HAE, she said.
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.
"I think the drugs are game changers," Lunn said. "People who lived in fear can now live a normal life."
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.
And he said doctors not well-versed in the condition who get a patient with an HAE attack often attempt to use prednisone, an immunosuppressant anti-inflammatory steroid that doesn't work.
"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.
"I might be the only person in the world who is happy that she's getting the cold," she said.
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.
"I'll be really nervous when it's our turn to have kids," 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.
"I'll keep my fingers crossed and hope for the best and plan for the worst," she said.