PERRY, (Box Elder County) — Lester Crow has the look of a man who survived a fire as he sits in an easy chair in his daughter's living room. His left leg, swathed in gauze and what looks like netting, is elevated. The skin on his cheeks and eyelids is slightly too pink, like newborn shiny skin. And his arms and the part of his chest you can see above the V-neck of his loose-fitting cotton shirt are mottled with swirls of purplish-pink and white.
Crow, 58, spent many weeks in a burn unit this summer in Arkansas before relocating to Utah so that his grown daughter Tina Crow Puckett and her son Stone, 14, can care for him.
But no fire seared the man. Rather, he is the victim of an attack by his own immune system, due to an extremely rare condition called pemphigus vulgarus, which often starts as blisters in the mouth but can, as it has in Crow's case, cover much of the body.
The skin's job is to keep infections out and fluids in. The breech created by PV's blisters and skin breaks lets fluids seep out and can lead to life-threatening infections, says Dr. John Zone, chairman of dermatology at the University of Utah School of Medicine, who treats Crow and others who have the potentially disfiguring and even deadly disease.
Not too long ago, he says, 90 percent of those with pemphigus vulgaris died in the first year. But modern medicines and techniques now spare the majority.
First, though, it wreaks havoc on families.
The condition makes Crow nearly literally 1 in a million, says Molly Stuart, chief executive officer of the International Pemphigus Pemphigoid Foundation, based in Sacramento, Calif. It's a disease believed to affect just a few hundred at any given time in the United States, a tiny number compared to more common, better-known autoimmune diseases like diabetes. Over the course of a decade or so, a few thousand have some form of pemphigus, but the number currently suffering is small. It is a true orphan in terms of its appeal to drug manufacturers as something to study and for which to work on a cure.
What is not uncommon, says Stuart, is the disruption to the family's life: Many families with a severe, unexpected, acute condition go through variations of what Crow's family has endured, including crippling expense, a sometimes very long search for diagnosis and effective treatment, time off work not only for the patient, but for those who love and physically care for him. Even the stares from strangers who wonder what happened or are fearful it's contagious cross the boundaries of a single diagnosis, a sort of universal experience that's painful and sometimes absurd, as Puckett describes it.
Tina Puckett was living in Perry with her son, Stone, when she learned her father might literally be dying in that burn unit in Arkansas. He'd had heart surgery in early spring and he told her that he'd had a couple of small ulcers in his mouth, then a little blister had formed on his leg near the site where they'd taken a vein graft to do bypass surgery. From there, the sores spread until he had blisters on his ears and cheeks and eyelids, his arms, his legs, his chest and back. Suddenly, he was fighting to survive, the man himself an open wound.
She scrambled to get there, where she hovered for weeks as his condition yo-yoed. What had seemed like a small complication to a spring surgery had become a summer-consuming — and possibly dad-destroying — nightmare.
When he seemed somewhat stable, she arranged to bring him to Utah so she could take care of him. How long, was the question. Her son needed her, too. She had been using time off from her job through the Family Medical Leave Act, but it wouldn't last forever. She also had to find medical care for him here. She found Zone. When she brought Crow home, Zone had him hospitalized for a few days while they stabilized his wounds.
Stuart says certain experiences are common with uncommon diseases, such as difficulty getting a correct diagnosis or how fast a patient can rip through medical benefits and caregivers through their family leave time and cash and the energy to cope with a healing process that takes months and sometimes years. Crow and Puckett know well the challenge. It has become the story of their lives.
The long haul
While the disease mostly strikes older people, it sometimes takes a younger one, like Crow — and by extension and inadvertently, his caregiver Puckett — out of the work force. Stuart's seen it in teens and adults who in some cases can never work again because of flares and subsequent difficulty bringing the pemphigus under control. "If you can get good control of the disease — that's both if and when — on average there's about two years when you're really suffering with the thing and not able to work," she says.
Two years isn't much over the course of a long life. But it's forever when, like Tina Puckett, you're trying to get by on the time the Family Medical Leave Act excuses you from work. She didn't make it and lost her job. And there's another irony to the timing: It takes a couple of years for people who struggle with something like pemphigus to qualify for certain types of disability. For those who are lucky and overcome the disease, about the time you qualify, the condition is controlled and the disability ends before it officially starts. And for those who never get it quite under control, two years with no help is a very long time, Stuart says.
Still, she notes, "the bigger crisis is the period before diagnosis." The longer it builds up, the more damage the disease causes and the harder it is to overcome. But because pemphigus is so rare, many doctors have never sees a single case and they know nothing about it. When the foundation surveyed those who have been diagnosed with pemphigus or pemphigoid, they found many had seen more than 10 doctors before they learned the name of their disease. Finding someone capable of treating it with expertise is a genuine quest.
The foundation estimates there are perhaps 35 people who know how to handle the disease well in the United States. Some pemphigus patients will never find those specialists — or will search for a very long time. Because the disease typically starts with blisters in the mouth, people often go first to a dentist to find out what's going on. And a dentist may not recognize the disease; if he does a scraping it increases the likelihood miserable symptoms will flare and spread. Even with a diagnosis, many providers don't know to watch for bone loss or to keep an eye on the red blood count, says Stuart.
Experts including Zone are teaming up to come up with a protocol to help others do the right thing consistently when it comes to treatment. Stuart says 33 experts gathered at the National Institutes of Health, which incidentally funds much of the research being done, to share what they know and to come up with a plan to teach others.
Still, "it is the smallness and rarenesss and insignificance on the 30,000-foot level that makes it all so tragic," she says.
Zone's dermatology practice includes 15 or 20 people in the region who have pemphigus. Tina Puckett was lucky to find a knowledgeable dermatology clinic just an hour's drive from home.
Lester Crow's case, Zone notes, is one of the most severe he's ever seen. By treating the condition aggressively with cortisone and medicine that suppresses Crow's immune system, Zone is fairly certain the skin will eventually heal and the disease will go into remission. But getting there has been fraught with challenges. Crow's skin must be treated "gingerly," so it doesn't break or peel off. It has had to be kept "absolutely clean" to avoid infections. Dressing changes for a while were done at the University Hospital burn unit, with staff's vast experience that again highlights how similar his wounds were to burns.
Just bumping his skin is potentially serious. Stuart knows people who place shower curtains or plastic sheets on their beds and pour vegetable oil on it so they won't stick to anything when they have pemphigus.
Couple that with the fact that the pain medication Crow has needed meant he could not drive himself safely or legally the 60 miles to his dressing changes three or more days a week. That job fell to Puckett. Just doing the laundry is a full-time job when the condition's at its peak, Stuart says.
The good news to an unexpected disruption like an autoimmune disease, she adds, is most people don't have their entire lives collapse, although some do. Many get pemphigus under control in three to six months. Zone predicts Crow's pemphigus, because of its severity, will take much longer. And it's a condition prone to recurrences called "flares."
Because skin diseases are often right out there for the world to see, the sufferer has to deal with public reaction and, too often, ignorance, Stuart says. People think it's contagious. It's not. Or they think they're seeing something they're not, such as AIDS. They may stare or say rude and thoughtless things.
"All public interaction is a trauma," Stuart notes, sometimes for the entire family.
There are other little sorrows, as well. Stuart speaks of mothers who can't kiss their babies for fear their lips will burst open.
Just as brutal is the fact that when the condition strikes someone who is older — the most common scenario — the caregiver is apt to be elderly as well. It's a hard task to handle the physical side of the disease and make some complicated decisions, too, when you are also frail.
Looking for a cure
Stuart, an attorney, sits on a committee involving rare diseases for the American Association of Dermatology. It's the same story across rare diseases, she says: "No research and no interest in drug development." There aren't enough potential patients to woo drug manufacturers to invest their resources. And Food and Drug Administration efforts to encourage orphan drug development have helped, but not enough. She thinks the search for a treatment will pick up as links between orphan diseases and the ways in which they are similar bring hope that more than one disease will respond to the same treatment. It hasn't happened yet for pemphigus. Still, pemphigus is a lucky target in one way, because it affects a single organ — and a big one at that: skin.
So foundations pitch in money they raise to promote research, and family members like Tina Puckett sometimes charge expenses on credit cards and cross their fingers they can deal with the high cost when the crisis is over.
Crow and Puckett are finally beginning to feel hopeful. They can do most of the dressing changes, a tedious and painful process that is vital to his prognosis, themselves. Their visits to the doctor and the long drive to Salt Lake are weekly now, not nearly daily. The drive to the infusion center for a six-hour drip only happens monthly now.
And Crow finally feels well enough to be a little bored. That happens to beat feeling like your body is on fire, he says.
Autoimmune disease marked by painful blisters and erosions in the mouth and elsewhere.
Can affect anyone, but most common among older people and those of Mediterranean or Jewish descent.
Severe cases are managed like burns. Primary dangers are infection and dehydration; 5-15 percent mortality. With care, most cases become chronic.
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