Woman spreads word about rare illness that causes adults' feet, hands to grow

Peggy MacDonald knew something was wrong when she was a young adult and her hands started to grow.

"When I was 18, I had a ring size of a lady's five. By the time I was 22, I had already gone up to a men's seven. I now wear a men's size 10½," said the North Sydney, N.S., resident.

That wasn't the only symptom. MacDonald's feet were growing, her voice was deepening and her jaw and tongue were both thickening.

She was in near-constant pain, but doctors didn't know what was wrong.

"My family physician sent me to specialists for rheumatology. I was diagnosed with carpal tunnel syndrome. There were many diagnoses made on me, but they were all wrong," said MacDonald.

She was so incapacitated by the pain, doctors thought she might end up in a wheelchair.

Diagnosis at last

Finally, during a doctor's visit in Sydney in 2001 on an unrelated matter, the medical mystery was solved.

"She wasn't as concerned with the lump under my arm as where did I get my big lips, my big feet, my big hands," said MacDonald.

The doctor sent her for a blood test that measured the amount of growth hormone in her body.

That's when MacDonald found out she has acromegaly.

"I was devastated," said MacDonald, who was 34 at the time. "The worst thing I ever did was go home and look it up on the internet, which said that the mortality rate is at 35."

Acromegaly begins later in life

Acromegaly is informally known as the "sleeping giant within" because it's related to the same disease that causes gigantism and many people don't realize they have it. Both conditions are caused by excessive growth hormone from a tumour on the pituitary gland.

With gigantism, people grow to heights of seven feet or more. Gigantism begins in childhood, but acromegaly sets in later in life, typically between the ages of 20 and 40.

"Once your bones have fused together, these people cannot get any taller. But these bones and soft tissue and all the other internal organs can continue to get bigger," said Dr. Ali Imran, an endocrinologist at the Queen Elizabeth II Health Sciences Centre in Halifax.

That results in a wide array of symptoms, including enlarged hands and feet, protrusion of the jaw, excessive sweating, high blood pressure, joint pain and diabetes.

If caught early, the condition can be treated with surgery, drugs and sometimes radiation.

But Imran said patients often suffer for many years without a diagnosis because the early symptoms are vague and diverse.

Once complications such as facial changes and enlarged organs have set in, they are irreversible, said Imran.

"It's a very nasty disease which causes a huge amount of disfigurement, as well as metabolic abnormalities and an early death, if left untreated," he said.

Hundreds undiagnosed

Imran is co-director of the QEII's neuropituitary clinic. The clinic has around 95 acromegaly patients from Atlantic Canada. 

Imran estimates many more people than that in the region — perhaps 10 times as many — have the disease but haven't been diagnosed. He said there's typically a 10- to 15-year delay between the onset of symptoms and a diagnosis.

The disease is easily recognizable in its later stages, he said, "but it's the early ones that we have a real struggle with."

MacDonald, who's now 51, said she copes as best she can with her illness.

"I have to go on," she said. "I have five children. You just learn, you have to get up, you have to move."

'I was mistaken for a man all the time'

MacDonald said she's self-conscious of her appearance.

"I used to wear my hair short; I actually grew it long because I was mistaken for a man all the time," she said.

MacDonald also has chronic cardiac issues because of the enlargement of her heart.

She said she tries to channel her anger over the delays in her diagnosis into helping others recognize the symptoms. She's part of Atlantic Acromegaly Support, a group that meets twice a year in Halifax.

"If we could stop one person from being physically like we are, we've done something right," said MacDonald.