Rare extreme-growth disease finds an Ottawa champion to raise profile
Dianne Sauvé sometimes finds herself looking at someone in public — on a bus, say — and thinking, “I believe that person has it, too.”
The “it” is acromegaly, a rare disease that can result in abnormal growth of the forehead, nose, jaw, hands and feet.
Caused by a tumour on the pituitary gland that increases growth hormone, its other symptoms include joint pain, extreme fatigue, excessive skin tags, headaches, enlarged organs, menstrual cycle irregularities in women and erectile dysfunction in men, sleep apnea, deepening of the voice, vision impairment, dental issues and diabetes without a family history of it.
Treatment includes medication, radiation and removal of the tumour, but there is no known cure.
Before puberty, when bones in the body fuse, it’s known as gigantism, and in many cases it is accompanied by a familiar look: patients with the disease have included Carel Struycken, who played Lurch in three Addams Family movies; Richard Kiel, who played Jaws in a pair of Bond films; inspirational speaker Tony Robbins; and former wrestler Andre the Giant.
It’s an extremely rare condition — only about 60 people in a million are believed to have the disease — and even more rarely diagnosed, as just three or four of those 60 people find out they have it. For Sauvé, it’s important that the bus rider learn that he might be one of those affected, but so far she hasn’t mustered whatever wherewithal it takes to approach a stranger with such an overwhelming announcement.
Instead, Sauvé, a 60-year-old Orléans resident who discovered only six years ago that she had the disease and only last spring met another patient with the same condition, has become an ambassador for acromegaly, forming an Ottawa-area awareness and support network.
The impetus behind Acromegaly Ottawa was a project by Montreal photographer Santino Matrundola, who one day woke up blind in one eye because of the disease. Matrundola invited Sauvé to be one of the subjects for Light of Day, an exhibit he was planning to raise awareness about the disease. Sauvé, who at that point had never met another person with acromegaly, decided to participate.
“I’d been suffering for five years and feeling all alone,” she remembers, “and only connecting with people online. So, when this opportunity came to be part of this project, I thought ‘I want to meet some other people,’ because, talking to my family, although they’ve been supportive, it’s not like speaking to someone who has gone through this.”
Even so, she felt a bit of a fraud as her acromegaly came with no visible pituitary tumour, a condition found in only about five per cent of patients. “All of these other people that I met had the tumour and had to have the surgery, which is up through the nose to the front of the brain, close to the optic nerve.”
Sauvé’s acromegaly diagnosis came six years ago, when an endocrinologist suggested she get tested following the discovery that she had Type 2 diabetes.
At the time, she had been exercising with friends, but seemed unable to lose weight. When she brought up the matter with her specialist, it raised the possibility she might have acromegaly.
Why yes, she said when she was asked, her feet HAD grown larger — about a size and a half — but she had just put that down to age and weight. Blood tests were ordered and a high level of the hormone IGF-1, an indicator of acromegaly, was found.
A day before Sauvé and her husband left on an Alaskan cruise, she was told she likely had the disease that was typically accompanied by a benign and treatable brain tumour.
“I’m an optimist, so I hung on to ‘benign’ and ‘treatable,’” Sauvé says.
With no visible tumour to remove, Sauvé’s current treatment involves an injection every four weeks. The medication has helped, she says: Her snoring has dramatically lessened and her face appears less swollen than in the past.
Last June, following the Montreal photo shoot with other acromegaly patients, Sauvé formed Acromegaly Ottawa on Facebook.
“The photo shoot was very emotional,” she recalls, “and after meeting people who had it, I wanted to help.”
That sentiment recurred in September, at the accompanying photo exhibit, when Sauvé was approached by woman with the disease who was in tears because she, too, had never before met anyone else with the condition.
“I’d retired from the public service in April,” she says, “and I thought, ‘Now I have some time to devote to this. I want to do something.’”
She encouraged her MPP, Liberal Marie-France Lalonde, to speak on the matter in the legislature, and she’s trying to find someone to champion the cause of a provincial proclamation to make Nov. 1 Acromegaly Awareness Day in Ontario, similar to declarations made in Nova Scotia and British Columbia.
One challenge she faces is that many physicians aren’t aware of the disease and people are suffering alone and in silence. As a result, many of the disease’s symptoms are misdiagnosed as such conditions as arthritis or fibromyalgia.
Sauvé also printed and distributed information cards for area medical centres and endocrinologists to make available to patients, which has led to at least a couple of the 22 members in her group joining.
“If I had no support,” she says, “then there are other acromegaly patients in Ottawa without support. One fellow who just came forward, it’s been 18 years since he’s had the disorder, and he’d never met anyone, either.”
Her goal now is to find more patients while acquiring non-profit charity status. “Once you do that, you can sometimes get a bit of funding from pharmaceuticals and places like that, to get recognition and take it to another level.”
For more information, type “Acromegaly Ottawa” in Facebook, or visit