The film Extraordinary Measures tells the story of one family's race to find a treatment for Pompe disease, a rare and potentially fatal neuromuscular disorder that had afflicted two of their children.
What is the genetic disorder in Extraordinary Measures?
Extraordinary Measures is based on a true story about a family with two children who have Pompe disease, a fatal genetic disorder. UNMC was involved in the clinical trials for the treatment featured in the movie and currently treats three patients with the disease.
What disease is the father reading about in Extraordinary Measures?
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When the film Extraordinary Measures debuts on January 22, it will tell the story of one man's quest to obtain treatment for his children who suffer from a rare metabolic disorder called Pompe disease. The real story began 20 years ago at Duke University Medical Center when pediatric geneticist Y.T.
What system is the disease currently affecting in Extraordinary Measures?
This movie is based on a nonfiction book The Cure by Geeta Anand. Pompe disease (glycogen storage disease type 2) is a myopathy, that affects the diaphragm. Infantile Pompe disease presents cardiomyopathy and hepatomegaly.
What Is Pompe Disease? Pompe disease is a rare genetic condition that causes muscle weakness that gets worse over time. It can have a serious effect on many of the body's systems. Pompe disease is also called acid maltase deficiency disease and glycogen storage disease type II.
Check out a clip from Extraordinary Measures: "I Can Save Your Kids"!
What is the life expectancy of a person with Pompe disease?
People who develop symptoms of Pompe disease in late childhood often die in their 20s and 30s. Those who develop symptoms later may experience a slower progression, but unfortunately their lifespan will also be curtailed.
What is the life expectancy for someone with Pompe?
Without treatment, babies with classic infantile-onset Pompe disease typically don't survive beyond the age of 2, and most children with the nonclassic type don't live past early childhood.
During the weekend, a film called Extraordinary Measures , starring Harrison Ford and Brendan Fraser, debuted in theatres. Based on a true story, the film highlights a condition called Pompe disease.
Clinical trials show that the treatment is usually effective, although some patients respond better than others, says Dr. Perry Shieh, co-director of the UCLA muscular dystrophy clinic. But it is not a cure. The movie is fairly accurate in its description of how the replacement enzyme works, says Fernhoff.
This unusual and rare disease transforms a person's muscle tissues into bones. This disease is also called fibrodysplasia ossificans progressiva (FOP).
With only four diagnosed patients in 27 years, ribose-5-phosphate isomerase deficiency is considered the 2nd rarest known genetic disease being beaten only by Fields Condition affecting two known individuals, Catherine and Kirstie Fields. No single number has been agreed upon for which a disease is considered rare.
Michelle McMurry-Heath resigned after disagreements with some BIO board members. Family photos at the Crowley home in Princeton. John Crowley, executive chairman of Amicus Therapeutics, helped develop drugs to save his daughter and her younger brother from a genetic disease.
Why did Mrs. Crowley decide to have another child if Megan had Pompe disease?
Crowley is shown making a complex and personal decision to have a second child despite Megan having Pompe syndrome. According to the film, Mrs. Crowley was motivated by a desire to help Megan live a long and healthy life.
What other genetic disorders are related to Pompe disease?
A few muscular dystrophies may have symptoms that are like those seen in childhood and adult Pompe disease including facioscapulohumeral dystrophy (FSHD), Duchenne muscular dystrophy and Becker muscular dystrophy. FSHD is characterized by weakness of facial, shoulder (scapular winging), and upper arm muscles.
Stonehill in the form of a groundbreaking enzyme replacement therapy (ERT), which was able to slow down the progression of the disease, allowing the children's muscles, especially the heart and lungs, to function better. While Stonehill is fictional, ERT is not.
Two of those children have a rare genetic disorder called Pompei disease. John and his wife, Eileen were told that Megan and Patrick would not live very long. So they took matters into their own hands and help develop a drug that successfully treats the disorder.
Without early detection and treatment, babies with infantile-onset Pompe disease frequently die of respiratory or heart failure. People with late-onset types of Pompe disease can often live longer, as the disease progresses at a slower rate. However, it depends on the age of onset and severity of the disease.
The adult-onset form of Pompe disease had a wide clinical spectrum, ranging from asymptomatic patients with increased CK to muscle cramps and pain syndrome or rigid-spine syndrome.
Mutations in the GAA gene cause Pompe disease. The GAA gene provides instructions for producing an enzyme called acid alpha-glucosidase (also known as acid maltase). This enzyme is active in lysosomes , which are structures that serve as recycling centers within cells.
Do both parents have to be carriers for Pompe disease?
Both parents of a child with Pompe disease are nearly always carriers of the condition. Note, babies with a pseudo-deficiency and a GAA gene variant most likely do not have Pompe disease either. But baby may need further evaluation with a Metabolic Geneticist to be certain.
Pompe disease affects all races and ethnic groups equally. “There are now about 700 or more mutations, or variants, known in the GAA gene,” says Deeksha Bali, PhD, a professor of pediatrics at Duke University School of Medicine in Durham, NC.
Late-onset Pompe disease (LOPD) is a rare disease, defined as a progressive accumulation of lysosomal glycogen resulting in muscle weakness and respiratory problems. Anecdotally, individuals often have difficulties walking, yet, there is no three-dimensional data supporting these claims.
