Emily W explores Pompe Disease

 

I recently watched the film Extraordinary Measures, which tells the true story of John Crowley and his family as they fight to develop a drug to treat Pompe disease. I found this film truly moving as it illustrates the extremes families are prepared to go to for each other, and shows how perseverance and love can drive change.

Upon watching this film, I decided to research Pompe disease on the internet and also read a section about it in the book ‘Neurology in Clinical Practice Third Edition’ in order to extend my knowledge and understanding further.

The Crowley Story

In 1998, when Megan Crowley was fifteen months old, she was diagnosed with Pompe disease. Her brother Patrick, seven days old at the time, was diagnosed with the same disease four months later.

Pompe disease is a rare genetic disease which results in profound muscle weakness, and therefore Megan and Patrick and the majority of Pompe sufferers have special wheelchairs, as they are unable to walk properly. It is caused by mutations in the gene which results in the deficiency of an enzyme called acid alpha-glucosidase (GAA). This deficiency leads to excessive amounts of glycogen accumulating in the body’s tissues, resulting in major damage (of the heart and skeletal muscles in particular). Most children die from respiratory failure or cardiac arrest as their heart slowly enlarges. Megan and Patrick were both expected to die within the first few years of their life. However, despite severe respiratory distress and against the odds, the children pulled through a while longer. In 2000, John left his job and he and his wife Aileen formed a biotechnology company to develop a drug to save the lives of their two youngest children. They, along with the help of scientist and researcher Dr William Canfield, developed the life-changing drug Myozyme, which produces the GAA enzyme and is consequently able to help treat Pompe disease in children. Therefore, in 2003 Megan and Patrick Crowley, aged 6 and 5 years old, started receiving the drug their dad had developed and it has reversed the enlargement of their hearts and improved their muscle strength. This drug was a remarkable invention and has allowed 1000s of young Pompe sufferers to survive beyond their infant years, and has given them the opportunity to live better lives. It has given those children living with Pompe worldwide, their first fighting chance at life.

More about Pompe

Pompe disease is an autosomal recessive condition, meaning that each parent of an affected individual must pass on a copy of the mutated gene. It is for this reason that is often common among siblings, as illustrated in the film Extraordinary Measures. Additionally, this is part of the reason that the disease is relatively rare- affecting 1 in 40,000 people.

The four clinical phenotypes are distinguished by the age that you are diagnosed with the disease: infantile, late infantile, juvenile, and adult forms. The infantile form is characterized by progressive weakness, profound hypotonia (decreased muscle tone), and heart failure. The main features of the late infantile, juvenile and adult forms however, are motor delay and progressive myopathy (muscle tissue disease).

By Emily Wight

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