Learning to live with rare disease

Linda Sailer

Oct. 31, 2009 (McClatchy-Tribune Regional News delivered by Newstex) -- John Cote and his wife, Joey, of Dickinson are having to make lifestyle changes ever since he was diagnosed with primary amyloidosis.

The disease is rare -- it affects about eight out of 1 million people yearly, according to literature from Mayo Clinic in Rochester, Minn.

"I'm trying to take it as it comes," said John, who is undergoing a low-dose chemotherapy and steroid treatment.

Amyloid is an abnormal protein produced by cells in the bone marrow that can be deposited in any tissue or organ. Primary amyloidosis happens when enough amyloid protein builds up in one or more organs to cause the organs to malfunction.

"In my case, it's gotten to the lower part of my heart," said John. "It doesn't allow the heart to relax between beats, so when we're sitting here, my heart can function just fine, but if I get up and try to run, lift or go upstairs, basically, my heart can't get a good pump and I run out of air."

The abnormal protein has also shown up in his kidneys.

He said there is no cure for amyloidosis, but chemotherapy is designed to slow production of the protein.

"I happen to be involved in a study and they're keeping data on me," he said.

John described himself as a "go, go, go" type of personality -- one who loved to hike, camp and garden. That all changed about a year ago, when he started feeling fatigued.

"I attributed it to being out of shape, but it got to be more difficult to do the stairs -- something wasn't right," he said.

Calling his physician in April, John was directed to the emergency room at St. Joseph's Hospital and admitted to the ICU. Five days later, he was transferred to a Bismarck hospital, where an angiogram revealed his heart was normal.

"So they sent me home. I went a while longer, but was still running out of air," he said.

John was referred to a pulmonary specialist in Bismarck, but the tests were inconclusive.

After a third visit to the emergency room, John was referred to Mayo Clinic, where he went through a battery of tests during August.

"We felt they had an idea and they did, because they have seen several of these cases," said John. "Mayo treats most of the cases in the world."

The Cotes learned that diet and the amount of protein you eat play no role in development of the disease. There is no recognized link between primary amyloidosis and stress, occupation or environmental exposure.

"It's not contagious," said Joey.

"It's not inherited," added John.

His symptoms are common to the disorder: weakness, swelling of the ankles and legs, and shortness of breath. He even lost his voice for a time.

Learning of the diagnosis, the Cotes had the choice to pursue chemotherapy or a stem cell transplant. They chose chemotherapy because it's less invasive.

However, John will return to Mayo for stem cell harvesting in December. The stem cells will be stored and used if the chemotherapy is ineffective.

"They said the stem cell transplant is more intrusive and through their data, people don't seem to make it any longer with either treatment," he said. "If this isn't working in six months or a year, the harvested stem cells are ready to go."

The Cotes are realistic about his prognosis.

"They give him four years," said Joey.

"That's the normal from diagnosis -- the outside is seven," added John.

John is 56 -- younger than most newly diagnosed patients -- and is in relatively good health.

"I've never smoked. I have a lot of things going for me," said John.

He continues to work as team leader at Baker Boy-- a job he's had for the last 2 1/2 years.

He describe Baker Boy as a family-oriented company -- one that cares for its employees. Co-workers have donated vacation hours and the company is donating food for a fundraiser.

"The employees have really been fantastic for me. Through the ups and downs, they've been very supportive. Since August, I've not been able to work a full shift. They can tell sometimes, when it's time to go home," he said.

Depending on success of the therapy, his future employment is uncertain. Loss of finances is one of his greatest concerns, even as his wife has her shop, Memories by Joey.

Joey has a good understanding of what her husband is going through, because she underwent chemotherapy for cancer.

"He didn't leave me and I won't leave him -- that's what it's all about," said Joey.

"She's run interference for me right from the beginning. She's been on the phone every day, on the computer, contacting everyone from insurance to friends," added John.

They are the parents of a daughter, Heather, married to Conway Heupel. They are expecting a baby in January.

"We have the most fantastic family and friends. Dad kept the shop open for me when I was gone," said Joey.

In sharing their story, the Cotes wish to educate other people regarding the disease.

"We want people to understand what primary amyloidosis is," said Joey. "When you see someone healthy and there are things you can't explain, it's OK go to to the emergency room. If you don't get the right answers, keep looking."

For more information regarding the disease, visit the Web site www.amyloidosis.org.

Newstex ID: KRTB-0469-39337733