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In 'Extraordinary Measures,' Keri Russell plays Aileen Crowley Stafford County native Dawn Kendall has Pompe disease, a rare ailment that's at the center of the new movie 'Extraordinary Measures.' |
A year ago, at age 43, Dawn Kendall was diagnosed with a disease she'd never heard of, then told there was nothing that could be done for her.
"I remember telling the doctor that this totally messed up my plans," Kendall said. "I was going to be 96. I was going to paint and travel and be surrounded by grandchildren. Then I remember crying in the hallway."
Kendall has Pompe disease, the condition featured in the new movie "Extraordinary Measures." In people who have it, the body doesn't produce an enzyme needed to process carbohydrates. The carbohydrate glycogen builds up in the body's muscles, eventually destroying them.
The future is daunting for the Stafford County native, now 44, and her husband, Chuck.
"My muscles will fail," Kendall said. "All of my bodily functions, I will just lose control of them. Eventually, I will not be able to move, eat or breathe on my own."
A DIFFICULT DIAGNOSIS
Because Pompe disease is so rare--affecting an estimated 5,000 to 10,000 people worldwide--and because its symptoms mimic other disorders, it's not something most doctors consider when consulting with a patient.
Kendall said everyone she has met with Pompe was misdiagnosed at least once.
Kendall had been diagnosed in 2004 with fibromyalgia--a chronic disease characterized by widespread body pain. When she turned 40, her pain got worse.
"I thought maybe [the fibromyalgia] was getting worse," she said. "But there were little things I was noticing that just didn't seem right."
A test for multiple sclerosis came back negative. Doctors eventually decided Kendall had myositis, an inflammation of the muscles throughout the body.
The treatment for myositis is steroids, so Kendall went on prednisone. She had countless side effects--weight gain, vitamin D deficiency, high blood pressure, borderline diabetes.
Not happy with the results, she and her husband contacted two myositis clinics and heard back from the one at Johns Hopkins in Maryland.
Kendall underwent an entirely new battery of tests, including a painful muscle biopsy of her upper arm, which came back inconsistent with myositis.
Her doctor suspected Pompe and sent the biopsy to a second lab, which was unable to confirm that diagnosis.
"He told us, 'Thank goodness, because that's really bad,'" Kendall said.
But the doctor at Hopkins did some research and found that a different test, a simple blood test, could diagnose Pompe.
It did.
"I was so sick, and he told me, 'This is as good as it gets; it's only going to get worse.'"
BAD DAYS AND GOOD
Since her diagnosis in May 2008, some things have gotten worse.
An MRI that December showed she'd lost the bulk of the muscle in the backs of her legs, and she now has trouble lifting them.
Her lung function had been significantly reduced.
Wanting to do everything she could to battle the disease, Kendall started pulmonary therapy locally, modified her diet and was finally able to wean off the steroids.
When she went back to Hopkins in May, her lung function had improved.
But she still has very difficult days.
"On bad days, I can barely function," she said. "There are days Chuck dresses me and brushes my hair. There are days I crawl up the stairs so I can go to bed, and others when I can't even do that and sleep on the couch."
THE MOVIE
The disease the Kendalls had never heard of will become much better known with the release of "Extraordinary Measures."
The film stars Harrison Ford and Brendan Fraser. Fraser's character, John Crowley, is based on a real person who has two children with Pompe. Crowley quit his job to work with a scientist, played by Ford, who is working on an enzyme-replacement therapy that Crowley believes could save his children.
Kendall worries that people who see the movie will think a cure has been developed--it hasn't. But she's hopeful the movie will make doctors and patients more aware of the disease and the blood test that can diagnose it.
"It will be good for people to know it's out there," she said.
HOPE FOR THE FUTURE
The Kendalls worry about their children, Grace, 22, and Drew, 18. Both could carry the genetic defect that causes Pompe if their father also has the gene. He hasn't been tested yet, and neither of the kids has chosen to be tested yet, either.
Kendall is convinced that medicine will progress before her children have to worry about the disease, and she's hopeful that it will happen in time to help her.
"I refuse to live my life waiting to die," Kendall said. "I trust that God loves me and will keep His promises. I am surrounded by loving family and friends."
Love and faith get her out of bed in the morning, but it's often hard.
"I've had days where I just cried all day, and days I was so mad I couldn't see straight," Kendall added.
"But I've never seen her flat-out give up," said her husband, Chuck. "She might sit down for a few minutes, but she fights through it and gets up."
Laura L. Hutchison: 540/374-5485
Email: lhutchison@freelancestar.com
Pompe disease occurs in an estimated one of every 40,000 births.
The disease occurs when someone inherits a defective gene from each parent that causes a deficiency in one of the enzymes required to break down carbohydrates.
Symptoms can appear in infants and young children, called early onset or infantile, or in adults, called late onset. The disease's progression varies greatly from person
Acid Maltase Deficiency Association Inc.: amda-pompe.org
International Pompe Association: worldpompe.org
Pompe Disease.The Real Story: pompestory.blog spot.com
--Acid Maltase Deficiency
BY LAURA HUTCHISON
While there's no cure for Pompe disease, one company--Massachusetts-based Genzyme Corp.--has developed an enzyme-replacement therapy that has been effective in slowing the progression of Pompe in children.
But the Food and Drug Administration has not approved it for use in adults, and clinical trials are few and far between. Dawn Kendall still hopes to be accepted into one.
"It's basically the only game in town," she said.
The therapy is administered like chemotherapy, through an IV, over seven or eight hours, once every two weeks, for life. And it's expensive. The current cost is about $300,000 a year.
Some insurance companies battled paying for the treatment, and the Kendalls are unsure what kind of payment their coverage might provide.
Genzyme has a patient advocate who knows Kendall by name.
"Genzyme seems to have a really good program," said her husband, Chuck Kendall. "If you can get into a trial, and your insurance doesn't cover it, they work with you to find a way to get you the treatment."
Kendall is waiting for Genzyme's clinical trials to be expanded. By the time she was diagnosed, all the trials were closed.
"The therapy kind of catches you where you are," she said. "So the earlier you can get on, the better."
And Kendall does have an advantage. She is one of the few Pompe patients who actually still has some enzyme production.
"So, from a lab rat standpoint," she said, "I'm fascinating."
The FDA's Orphan Drug Program helps fund Genzyme's work.
"Otherwise, no one would ever do anything with these diseases, because there is no money to be made," Kendall said.
The Orphan Drug Act was enacted in 1983 to increase pharmaceutical study of "orphaned" diseases--those unlikely to be profitable for drug companies because of the illnesses are rare.
Under the terms of the legislation, a "rare disease" is generally one that affects fewer than 200,000 people in the U.S., the Food and Drug Administration says. Some examples are Huntington's disease (more than 150,000), Lou Gehrig's disease (30,000), Tourette syndrome (100,000) and muscular dystrophy (50,000).
