(GLYCOGEN STORAGE DISEASE, TYPE II; ACID MALTASE DEFICIENCY)
In 1995 at the age of twelve, Tiffany House was diagnosed with Pompe disease, a rare, progressive, metabolic disorder. At that time, her parents were told that there was no treatment or cure for Pompe disease and that Tiffany probably would not live beyond her second decade.
Today, Tiffany is thirty. While she and her family continue to battle with the effects of her disease, they now have hope. In 2006, the Food and Drug Administration (FDA) approved an enzyme replacement therapy for Pompe disease.
The House family’s story illustrates a common theme among patients with rare diseases. The family endured nearly a decade of frustration and followed many dead-ends before receiving an accurate diagnosis for Tiffany. This is an agonizing and costly experience for families, and it is imperative that these delays in diagnosis are prevented. Therefore, in 1995 the House family founded the Acid Maltase Deficiency Association (AMDA) to promote research and increase awareness of Pompe disease.
Tiffany House received her diagnosis just as promising new avenues of research were opening up. In 1999 she was able to participate in the first successful late-onset clinical trial with enzyme replacement therapy, which was conducted at Erasmus University Medical Center in Rotterdam, the Netherlands. Without a proper diagnosis that would not have been possible for her.
This guide is part of a series on rare diseases provided by NORD, free of charge, to medical professionals in the hope of encouraging early recognition of rare diseases and the appropriate referral to sources of help. NORD and the AMDA are grateful for the interest of medical professionals in Pompe disease and other rare disorders.
Pompe disease is an inherited metabolic disorder caused by absence or deficiency of the lysosomal enzyme a-glucosidase (GAA) due to mutations in the GAA gene.
The disease can present in infancy, adolescence or adulthood, but in all cases, is progressive and can lead to significant morbidity and early mortality.
Enzyme replacement therapy has been shown to benefit patients with infantile onset and late onset Pompe disease.
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