Monday, May 23, 2011

Rare diseases come with loneliness, isolation on top of the fear

This is such a rare disease that I never heard of Mounier-Kuhn syndrome until I read this article and I'm pleased to see that Shari Carter has taken the initiative to spread awareness about it.

By Nicole Brochu
South Florida Sun-Sentinel

Cancer. Lou Gehrig's disease. Alzheimer's.

The words carry with them a sense of dread, even doom. And yet there's hope and comfort to be found, too -- in the wealth of research being done, in the vast amounts of information available, and in the large numbers of those affected offering support.

Now say "Mounier-Kuhn syndrome" in a room filled only people who know what the words mean, and the space will echo with emptiness.

Fewer than 100 people on the globe have been diagnosed with this almost always fatal, congenital disease that enlarges the trachea and leads to chronic lung infections. Mounier-Kuhn syndrome is also known by the medical term tracheobronchmegaly.

Fort Lauderdale attorney Joe Carter was an unlucky member of this tiny community. When he was first diagnosed, in 1991, doctors told him he was one of only 70 known cases in the world.

But they couldn't tell him much more. Not how he got the disease, what his life expectancy was, or even who the other 69 people stricken with Mounier-Kuhn's were, and what happened to them.

Doctors had just one long-term option to offer: a double-lung transplant, a rare, tricky operation with no guarantees of success and few available donors. Also, a double-edged requirement that the patient be sick enough to warrant the procedure -- but strong enough to endure it.

The ugly odds caught up to Carter in March 2008, when he was admitted to Jackson Memorial Hospital in Miami with the last in a series of chronic lung infections. He was coughing up blood, barely able to stand, and struggling to catch his breath.

Less than a week later, Carter was dead. At just 38 years old, he left behind a 3-year-old boy, a pregnant wife carrying the son he'd never get a chance to meet, and no real understanding of the disease that took his life.

His widow, Shari Carter, was left reeling. "You can imagine -- forget it -- my whole life turned upside-down," she says now.

But along with the grief and loss, Shari Carter also found inspiration and hope. The Broward County legal community that considered Joe Carter a gifted attorney and favorite son rallied around his family and raised money for their needs.

Carter wanted to help families like hers, too, and bring some purpose to her husband's premature death. So that December, she established the Just Breathe Foundation, devoted to supporting families affected by the disease, raising awareness and promoting research to find a cure.

The charity, started in honor of a handsome, smiling father taken from his family too soon by a little-understood disease, struck a chord. In little more than two years, Just Breathe has been able to raise $30,000 toward its goals.

But here's the tricky part of fighting such a rare killer: Carter has not yet been able to distribute the money because she can't find an appropriate outlet. She knows of no scientists willing to study Mounier-Kuhn, and she's been unable to locate a family in need of financial support.

There aren't even any doctors who are considered experts in the condition.

"You're lucky if you find someone who knows what you're talking about," said Renee Blokzyl, of Toronto, Ontario, whose husband has been fighting Mounier-Kuhn's for the past 11 years. "My husband became an anomaly. You feel like you're having to educate the system."

In fact, it took Canadian doctors months to diagnose Eric Blokzyl with Mounier-Kuhn. He had such difficulty breathing, he couldn't make it from the car to the front door without feeling the urge to collapse. He lay on the couch, unable to do much, for six months.

After months of tests, misdiagnoses and a whole lot of shrugs from lung specialists who had never seen a chest X-ray quite like Blokzyl's, a Vancouver pathologist found the answer only after scanning the X-rays into an email and sending them to colleagues around the world.

"They told him he was number 83 to be diagnosed with Mounier-Kuhn in the world since 1946," said Renee Blokzyl.

The diagnosis meant that Blokzyl's trachea, like Carter's, had become so enlarged and diseased that it impaired his body's ability to clear mucus from his lungs. And like Carter, he will surely die from a resulting lung infection or heart failure. No one knows when, though doctors have taken clumsy stabs at an answer.

"They originally gave him five years to live without a double-lung transplant," Renee Blokzyl said. "They keep looking at him and saying, 'Why are you still here?'"

In the vacuum of real answers is a palpable sense of fear, loneliness, frustration and a desire to fit in, even among other lung disorder patients.

"You're always a curiosity for other people," said 54-year-old Eric Blokzyl,who, with his lungs working at 30 percent capacity, is still a senior manager in the Canadian railway system. "We're frustrated with the medical field because you think you're making headway and something happens and you get blank looks, and you feel like you're starting from square one again."

So little is known about Mounier-Kuhn that the Blokzyls are convinced there are "thousands" of other sufferers who have been misdiagnosed with other lung disorders like COPD.

But without more documented cases, researchers have little incentive to study the disorder. It is a tragic predicament, made all the more isolating for the sparse community of sufferers available to support one another.

That's why Renee Blokzyl and Shari Carter are grateful. The two connected through the Just Breathe website, and they have found solace in long phone conversations spent swapping stories, sharing strategies and lending an understanding ear.

"Just being able to talk to another family, that's just huge, the support end of it," Shari Carter said. "People always say, 'I know what you're going through,' but they don't, they can't." She does know what Blokzyl is suffering, she said, "and it's awful."

There is strength in numbers, it seems, even in the small world of Mounier-Kuhn.

Watch a video with Shari Carter

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