Underdiagnosed lung disease leaves victims short of breath

05.17.2014

Source: The Ottawa Sun

It can be an invisible killer.

A rare and potentially fatal lung disease sharing symptoms with so many common ailments, it can often fool the very medical specialists who are trained to recognize it.

There is no cure, and in the most severe cases -- if left undetected and untreated -- the patient could be dead within an average of two to three years.

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Charlene Smith is taking life one day at a time after being diagnosed with pulmonary hypertension seven years ago.

About 5,000 Canadians have already been diagnosed with pulmonary hypertension (PH) -- where the pulmonary arteries become scarred or closed off, leading to high blood pressure in the lungs -- but as many as 10,000 might be affected by the condition, which is often misdiagnosed as asthma, allergies, or a host of other ailments.

Those who suffer from PH often spend years of frustrating trial and error before landing on the correct diagnosis, with patients often going through fruitless treatments, drug regimens and a battery of tests in the process of elimination.

And even when the correct diagnosis is made, the drugs can be costly -- as much as $6,000 a month -- and each comes with its own set of side effects.

Those who silently suffer will often speak of the social burdens -- the isolation and depression that come with an unknown and misunderstood disease -- as well as the physical and financial toll.

And despite the recent emergence of various approved treatment methods in Canada, the hospitalization rate for PH sufferers has increased 44% in the last decade.

Even more troubling, the death rate that was once in decline in males is now reversing, and the death rate for women is increased at an alarming rate.

* * *

"I finally went back to my family doctor, and I just broke down in tears," Jo-Anne Mainwood recalls of the darkest days of her search for the mystery ailment that was stealing her breath.

"I told her, 'I can empty my asthma medication, I can stay away from dust, and I still can't breathe.'

"I'd go for a walk with my dog and my mom, who's in her 70s, and I have to tell her to slow down."

It wasn't the pace Mainwood was accustomed to, being a Grade 8 teacher with two energetic children of her own, an active runner who could always be found enjoying the great outdoors.

It was her birthday, and Mainwood had invited friends to run the aerial course at the Lefleche Caves near Val-Des-Monts.

That's the first moment -- some nine years ago now -- Mainwood can recall being embarrassed to be lagging so far behind.

"I kept running completely out of air, having to walk three feet and then having to bend down and try to catch my breath. It was horrible for somebody who'd always been doing outdoorsy stuff. I just couldn't breathe and I couldn't keep up.

"So I saw my doctor, and I was told, 'Well you've had a couple of kids, you've put on a few pounds, maybe just do a bit more exercise and see if getting back into shape helps you.'

"So that was the first thing, and I joined a gym and I'd try to exercise, but I'd feel gross and faint. I remember being on the treadmill, and I'd look to the person beside me running like mad, and I'm barely walking and my heart beat is going just as fast as theirs."

She went back to her doctor, and tested positive for asthma.

"So I got on the (asthma inhalers) but I was still struggling," says Mainwood. "I'd go up a flight of stairs and I'd still be completely winded."

Back to the doctor, where yet another best guess pointed to a dust allergy as the culprit.

"It was so frustrating," she says as she was finally sent for a series of tests, including a stress test that uncovered a slightly irregular heartbeat, and a nuclear isotope test that identified what doctors thought were blood clots in her lungs.

"That's when I knew something was up, when they asked me to stay in hospital," says Mainwood.

She was taught how to administer her own blood thinners to keep the clots under control, which would have been valuable knowledge had the diagnosis been the correct one.

Five years would pass from the time Mainwood first noticed her shortness of breath to the point where PH was properly identified, through a procedure called a right heart catheterization, which takes a direct measurement of the blood pressure in pulmonary arteries.

"The hard part was that while I was showing symptoms of asthma (early on), my respirologist is an expert on pulmonary hypertension, and he was the one who at first misdiagnosed it as asthma," says Mainwood, illustrating the challenge too often facing both sufferers and the medical community.

"And the problem is, the longer you go without treatment, the more damage is done -- the more sickening and scarring and hardening of the pulmonary arteries takes place, and the harder it is on your heart.

"So you're getting worse and worse as you're waiting for a diagnosis."

* * *

But in the absence of a cure, coming to the correct conclusion on the diagnosis is cold comfort.

"Even when you know what you have," says fellow PH sufferer Charlene Smith, 74, "you don't know how it's going to affect you in a lifetime point-of-view. So I just wake up in the morning and live one day at a time."

Smith, who has been dealing with PH for seven years, recently started a support group, where about 17 local PH sufferers, their family members and their caretakers can share their experiences.

"It really hit me when I started meeting other PH patients at a conference," says Smith. "But for the first couple of years I felt very isolated. They were very good to me at the Ottawa Heart Institute, but it's not the same as having someone with you who knows what you're experiencing."

In a recent survey undertaken by the Pulmonary Hypertension Association of Canada -- the first study of its kind, and only coming in late 2013 -- it was noted that seven in 10 patients experienced "social isolation and relationship issues," attributed primarily to the general lack of knowledge, or "invisibility" of the disease.

That started early in the journey for Smith, who moved out to Ottawa from Vancouver saddled with a pair of oxygen tanks, which doctors had mistakenly told her she'd rely upon for the rest of her life to treat yet another misdiagnosed condition -- in this case, cardiac obstructive pulmonary disease.

"They told me I'd be on oxygen 24/7 for the rest of my life," says Smith. "And that, I'll tell you, is pretty scary. I was terrified."

She, too, eventually identified PH as the invisible menace, but that was only the beginning of a new cycle, with different drugs prescribed to combat the side effects that would emerge from the last batch of medication.

"It's like a vicious circle," Smith says. "And facing life, it's day by day. There are days when you think you can't make it through the day.

"I accept it now, but for me, it took quite awhile to accept it."

* * *

For Mainwood, she too arrived at acceptance, but not before arriving at a number of conflicting emotions along the way.

"I thought I was going crazy -- it was depression, I was lethargic, I just wanted to come home from work and sleep," she recalls.

"Even after being diagnosed it was hard, because I was so tired. My cardiac output is half of what a normal persons' would be."

Mainwood eventually began to cope, with little adjustments like having her second-floor classroom shifted to the main floor to avoid stairs, or having her husband take over the "lion's share" of domestic duties.

Even then, Mainwood bristles at the memory of a dinner guest remarking that she must be some kind of "princess" to have such a doting and attentive partner.

While she'd seethe through the occasional comment, soon she'd come to crave any social interaction at all.

"I was a foster parent, I have my own two kids, I'm teaching Grade 8 and putting on school productions and events and trying to keep up, but it's just getting harder, so I ended up not having much of a social life," says Mainwood.

"It was all I could manage. And even if I did manage to go out with friends, I'd be so tired I couldn't follow the conversation, and I'd just want to put my head down and sleep."

Then there was the drug regimen, which would run between $5,000 and $6,000 each month, paid up front and later partially covered by insurance.

"But at first it was so stressful," she says, "Because if you didn't get reimbursed after two months you're already $12,000 in debt. So you can't have much of a social life anyway, because you simply can't afford it."

Other challenges would prove even more difficult.

"There is no cure, and that was hard, too. Because then I wanted to know how long do I have to live. You have to process that this is permanent.

"I can breathe better and I can do things I couldn't before, but I keep waiting for the other shoe to drop, when the drugs don't do the job any more."

Even with the drugs -- part of the treatment requires three shots a day of the same active ingredient in Viagra -- there are side effects that come in the form of "almost debilitating" body aches and liver problems.

Mainwood was rattled when she recently started coughing up blood, confiding once again in her doctor.

"He told me, 'You know, I know you're upset about this and you're worried, but to put this in perspective, if you didn't get the treatment, you'd be dead now.'

"So, living with the disease, I'm thankful it was diagnosed. Every day is a gift, because without being treated, I'd be dead."

PH is a chronic condition defined by the arteries of the lungs becoming closed off or scarred, causing high blood pressure in the lungs. As the disease progresses, the heart can become enlarged, with potentially fatal consequences.

PH can strike at any time and has no regard for race or age.

Physical symptoms can include:

  • Breathlessness or shortness of breath, especially with activity.
  • Fainting and/or feeling tired all the time.
  • Lightheadedness, especially when climbing stairs or standing up.
  • Swollen ankles, legs, or abdomen.
  • Chest pain, especially during physical activity.

PH is often not diagnosed correctly, because early symptoms are subtle and can be confused with those of many other conditions.

Many people suffer from PH without knowing it, and the chronic condition can be fatal if left untreated.

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