Scientists have offered more information regarding Pompe condition after President Donald Trump underlined the story of Megan Crowley. On February 28, during the President’s first address to a Congress session, he expedited US Food and Drug Administration approval for drugs which could treat this disease. Megan Crowley was diagnosed with this condition as a child. In 2010, she was the subject of a movie called “Extraordinary Measures” which revealed her daily battle against this terrible disease.
Pompe is a neuromuscular disease. President Trump talked about Crowley’s fight against this disease, highlighting that the burdensome and slow approval process at the Food and Drug Administration has brought many obstacles in her way to get the treatment. Trump argues that if these restraints are left aside than the US will be glad to witness more miracles like the one experienced by Megan Crowley.
After Trump’s reference regarding this rare disease, Pompe condition was long debated by specialists. This illness represents a neuromuscular genetic condition. Patients who live with this disease have issues dissolving glycogen. The accumulation of glycogen affects muscle cells. Generally, patients find it difficult to move and breath.
People who have the condition have inherited a recessive gene from both parents. Even if both parents have this gene, there are only 1 out of 4 chances to inherit Pompe condition. This illness was revealed to affect between five thousand and ten thousand people in the world. One of the treatments which may be used to cure the disease is the enzyme replacement therapy.
John Crowley, Megan’s father, stated that his children do not produce as much of that enzyme as other kids. Both Megan and Patrick Crowley were affected by this condition. Approximately 99% of the enzyme is eliminated by the quality-control mechanisms from their cells. These cells have developed to allow just perfectly designed proteins and enzymes able to accomplish their tasks.
John Crowley, the father of these two Pompe condition patients, has written a book about his kids’ daily struggle. The book is called Chasing Miracles. He explains there that he finds it tough to look at his sick kids and know that he could not do anything to help them. Every morning he takes care of them, waking them up, dressing and feeding them. Dr. Alfred Slonim argued that life expectancy varies.
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