'I refuse to live my life waiting to die'
Stafford woman battling rare disease that will become more well-known with release earlier this week of 'Extraordinary Measures'
By LAURA L. HUTCHISON
Date published: 1/24/2010
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.
TREATMENT OPTIONS EXTREMELY LIMITED FOR ADULTS WITH POMPE 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 to person, but in children, it enlarge's the child's heart and without treatment, often results in death within a year.
RESOURCES
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 Association Inc. 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).
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Date published: 1/24/2010
Most recent reader comments:
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Mrs. Kendall
(posted by
Katie
, Jan. 24, 2010 10:32 pm)
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 1 likes
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It is my fist cousin who's children this movie was made about. I hope and pray you find peace and hope. It is a terrible disease. Many thoughts and prayers to you.
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