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CYSTIC FIBROSIS



“Cystic fibrosis (also known as CF or mucoviscidosis) is an autosomal recessive genetic disorder that affects most critically the lungs, and also the pancreas, liver, and intestine. It is characterized by abnormal transport of chloride and sodium across an epithelium, leading to thick, viscous secretions.
The name cystic fibrosis refers to the characteristic scarring (fibrosis) and cyst formation within the pancreas, first recognized in the 1930s. Difficulty breathing is the most serious symptom and results from frequent lung infections that are treated with antibiotics and other medications. Other symptoms, including sinus infections, poor growth, and infertility affect other parts of the body.
CF is caused by a mutation in the gene for the protein cystic fibrosis transmembrane conductance regulator (CFTR). This protein is required to regulate the components of sweat, digestive fluids, and mucus. CFTR regulates the movement of chloride and sodium ions across epithelial membranes, such as the alveolar epithelia located in the lungs. Although most people without CF have two working copies of the CFTR gene, only one is needed to prevent cystic fibrosis due to the disorder’s recessive nature. CF develops when neither gene works normally (as a result of mutation) and therefore has autosomal recessive inheritance.
CF is most common among Caucasians; one in 25 people of European descent carries one allele for CF. The World Health Organization states that “In the European Union, 1 in 2000–3000 newborns is found to be affected by CF”. Individuals with cystic fibrosis can be diagnosed before birth by genetic testing, or by a sweat test in early childhood. Ultimately, lung transplantation is often necessary as CF worsens.”
-From Wikipedia

Our daughter, Bethany, has cystic fibrosis. She was featured on StillWeWait in an article related to cystic fibrosis.

To view the article, click HERE









2 comments:

  1. Someone this morning directed me to your blog. My granddaughter, Ella, who is 7, has CF. She is so much like your daughter...bright, funny, active. I read your article that you linked to, and I find myself thinking the same way about Ella. I see her beauty and her vivacity, and it just is so hard to imagine that her life might be cut short by this horrible disease. While Ella has been fairly healthy, we as her family know how quickly that can change.

    I hope that Bethany gets better from this current siege and will eat. I know that is such a challenge for you and her. Thank you.

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    1. I know how you feel. It is so hard to know that even though they may look healthy they have a disease that can cut their life short. But, I am always hoping to keep Bethany healthy enough so that if a cure does happen it won't be too late for her. Actually, Bethany hasn't really been that sick. She has never been hospitalized for any CF related problem, yet. Eating is the hardest thing right now -- she just doesn't want to eat. I am constantly looking for ways to increase her appetite. Does your granddaughter have feeding issues?

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