Cystic+Fibrosis_LexiRichie

Sophia Marenn March 5, 2012

Note to self: Speech Purpose is to help children and parents at the Children`s Hospital of Pennsylvania learn to live with their disorder, inspire them with a true story, and show them that they are not alone.

CHOP Speech Rough Draft

Hi! My name is Sophia Marenn, and I`m going to tell you about the most challenging thing I have ever experienced in my life. When I was a baby, I was diagnosed with Cystic Fibrosis, which is a genetic disorder in the lungs in which thick, sticky mucus builds up in the lungs and blocks your airways. Each of my parents gave me a Cystic Fibrosis gene, because Cystic Fibrosis is autosomal recessive, which means that you have to have two genes that carry the disease- my parents have to have one gene, but since my disease is recessive, it doesn`t show up in them. Cystic Fibrosis is caused by inheriting two defective genes on chromosome 7 called CFTR. The most common mutation that causes CF is when there is an amino acid missing in your DNA. I have very salty tasting skin and I lose too much salt through my sweat, which is very unhealthy because it disrupts the delicate mineral balance in your body. I also have persistent coughing with phlegm, since there is mucus in my airways. CF gives patients increasing damage to the lung and respiratory systems- it gives lung damage because they have a regular chronic cough, and it causes respiratory damage because the mucus in the airways makes it difficult for you to breathe. Also, I constantly have sinus infections; the mucus in my body, which is supposed to be watery and keep bacteria out, is thick, so it increases my chances of getting sicknesses like pneumonia and bronchitis. I cough and get sick from pneumonia and bronchitis so often that they give me serious permanent lung damage like scar tissue, wheezing, lung inflammation and lung cysts- that`s how serious my cough is. Since the mucus also causes intestine blockage, the enzymes and nutrients can`t get to my pancreas, and my body can`t break down my food. This causes me to have poor growth, malnutrition and weight loss. Other signs of my disease are pancreatitis, rectal prolapse, liver disease, diabetes and gallstones. My parents tested me for Cystic Fibrosis because I showed most of those symptoms, also including smelly and greasy stool. Gross, I know! There is no sure way to cure my disorder, but there are types of therapies, such as chest therapy, when the doctor slaps the patient`s chest or back to release the mucus in the airways. Also, you can be given enzyme supplements and enzyme replacement therapy, where the doctors put nutrients in your body to help you grow right, or gene therapy, where a healthy gene is put in your DNA to help the sickness go away. Other ways to help make the disease a little better are inhaled antibiotics to kill bacteria and prevent lung infections and coughing, or medicines that break up the mucus and get it out of your airways. I am very lucky to be here right now, because Cystic Fibrosis can be fatal during childhood. Most people with the disease that I have only live to about 30 years old, because their lung cells don’t last as long as they should since they have the terrible cough all of the time. Cystic Fibrosis affects over 30,000 kids and adults in the US- there are tons of people just like me! And no matter what you think, you are never alone; you will always have others by your side to help you. =Sources:= []

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