EXTRAORDINARY MEASURES

1. Describe how Pompe's disease can be inherited Pompes disease is inherited in an autosomal recessive pattern. This means that both copies of the gene in each cell, with one gene is inherited from each parent, have mutations. These parents who have autosomal recessive conditions, each carry one copy of the mutated gene, though typically they do not show signs and symptoms of the condition. With each pregnancy, carrier parents have a 25% chance to have an affected child, a 50% chance to have a child who is a carrier, and a 25% chance to have a child who is normal. Did the father and medical researcher's patience inspire you? How? I was more inspired with the fathers love for his children. It is because of this love that he had the patience, perseverance and the determination. His mindset, I cant just wait for my children to die, is both commendable and admirable. In life, we are faced with trials, and it up to us to find a way through it. Yes, God wants us to trust in Him, but He also expects us to do our part. People in the medical profession sometimes focus more on achieving goals and dreams, and not about helping patients. When we get to practice, we often separate ourselves from our patients. What inspired me is the fact that the medical researchers outlook was changed. From theories to real patients. It was because of this family that he was able to realize what he was really working for. 2. Defend the position that an Orphan disease like Pompe's disease should not get as much funding as other common diseases like cancer. Due to the rareness of Pompes disease, funding for medical research should be concentrated more on more common disease. If we compare cancer and Pompes disease, the former has indeed a higher incidence. With this being said, it is only fair that more funding be given to more common diseases since more people are being affected. Pompes disease and other orphan diseases however, should still be given funding. It does not have to match up to Cancer, nevertheless, they should still be given attention. 4. What genes are involved or related to Pompe's disease? Discuss the natural course of the disease.

The GAA gene provides instructions for producing an enzyme called the acid alphaglucosidase or also known as the acid maltase. This enzyme normally breaks down glycogen into glucose. In Pompes disease, the mutations in the GAA gene prevent acid alpha-glucosidase from effectively breaking down glycogen. This allows sugar to build up to toxic levels in the lysosomes. This buildup would in turn damage organs and tissues throughout the body, particularly the muscles, leading to the progressive signs and symptoms of Pompe disease. In the infantile form, storage occurs significantly in the heart, resulting in cardiomegaly with left ventricular (LV) thickening. Storage in skeletal muscle leads to hypotonia and weakness. The respiratory muscles are also affected, resulting in hypoventilation and respiratory compromise. Although the Central Nervous System is involved, it is primarily limited to the anterior horn cells of the spinal cord and brain stem nuclei. Despite this, intellectual performance has been found to remain normal.