Pompe Crime

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Pompe Disease : 

Pompe Disease April 1, 2010 Gloria Gallegos

Maddison B. Castillo : 

Maddison B. Castillo Born: May 8, 2009 This presentation is dedicated to Maddison B. Castillo

The Beginning : 

The Beginning Since birth Maddison has been in and out of the hospital. She was not reaching her milestones. She was not able to keep her food down. She was not able to move around and smile in her sleep like every other baby. She was also having trouble breathing especially in her sleep.

Admitted : 

Admitted Maddison was diagnosed with cardiomegaly. (enlargement of the heart. It's detected by physical examination, X-ray or other imaging tests.) Her doctor decided to run some other test and diagnosed Maddison with Pompe Crim Negative. Maddison was admitted to the hospital September 23, 2009. She was transferred to a children’s hospital that specializes in this type of disease in North Carolina where she now lives.

Pompe Disease : 

Pompe Disease Pompe Disease is an extremely rare, progressive neurological condition that affects people of all ages. Quality of life is reduced and life expectancy is considerably shortened. Clinically, three distinct phenotypes are recognized: infantile, juvenile, and adult forms. Infantile form is characterized by generalized hypotonia with muscle wasting, failure to thrive, and progressive cardiomyopathy. Juvenile form presents with skeletal muscle weakness in the first decade of life but no cardiac involvement. Adult form presents around third decade with muscle weakness and elevated levels of creatine kinase (CK) in blood plasma.

Some questions and answers : 

Some questions and answers Q: What happens to the body with Pompe disease? A: Normally, sugars are stored in our cells as glycogen and have to be broken down. But with Pompe disease, patients can’t break down glycogen. It just keeps accumulating in the muscles and in some cases the heart. This causes muscle damage, scarring of muscle tissue and muscle weakness. Q: How does someone get Pompe disease? A: It’s a genetic, autosomal recessive disease. Each affected individual has received two copies of an abnormal/defective gene – one from each parent. Q: Is there any treatment? A: An enzyme replacement therapy has been developed that has shown, in clinical trials with infantile-onset patients, to decrease heart size, maintain normal heart function, improve muscle function, tone, and strength, and reduce glycogen accumulation.

Continued… : 

Continued… Q: Do all treated patients respond to the treatment? A: Nothing is 100%. Some children respond well and go to school. Before, that was not possible. The earlier you treat, the better the outcome. But, as with any kind of treatment, there are always non-responders. Q: Is Pompe disease more easily diagnosed now? A: It’s very easy to screen for Pompe disease with a simple blood test. Doctors are hoping to get it on all newborn screening panels to diagnose patients at birth and institute therapy in that very critical early period before symptoms present themselves. Illinois and Missouri are planning to start newborn screening for Pompe disease this year.

Maddison now : 

Maddison now This is Maddison now with her mother Patsy (my best friend). Maddison is doing well. At times she feels good and is making her noises and moving around. At other times she doesn’t feel so well. She is a little princess and diva as well. She is very strong and is fighting to beat the odds. Her mother is with her all day every day in the hospital making sure she is doing well. At times she is worried but knows that she has to stay strong and positive for Maddison.

Maddison B. Castillo : 

Maddison B. Castillo Maddison will be 1 year old May 8, 2010. She would like everyone to see the movie “Extraordinary Measures”. Starring Brendan Fraser and Harrison Ford. It tells the story of a family struggling with a rare disease – the neuromuscular condition known as Pompe disease.

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