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Understanding Cystic Fibrosis

Monday, October 26, 2009

We are just beginning to better understand CF.  Here are a few things we've learned so far:  

What Made Bennett Have Cystic Fibrosis? 
Unfortunately, Bennett received a faulty copy of a certain gene - CFTR - from each of his parents.  This faulty CFTR gene is what caused him to develop Cystic Fibrosis. 

Since a single copy of the gene would have prevented the disease, we know Bennett inherited two genes with mutations, a 1 in 4 chance since we are both carriers. (One of us has the most common mutation, the other a rarer one.  Neither one of us knew we were carriers before Bennett was diagnosed.)


The CFTR gene produces a protein found in the cell membranes of epithelial (surface) cells in the lungs, digestive tract and skin.  When working correctly, this protein moves Calcium ions out of the cell which results, ultimately, to allow water to move into the surrounding mucus, making it more fluid.

For Bennett, who has two faulty copies of the gene, the CFTR protein actually causes all of the mucus membranes in his body is more sticky, making it more difficult to move through his system. This sticky mucus causes all sorts of problems in his body.


What Problems Will Cystic Fibrosis Cause For Bennett?
Digestive Issues
In Bennett's intestines, this thick mucus prevents digestive enzymes (produced in the liver and pancreas) to reach his stomach. This issue causes two problems: First, Bennett is unable to properly digest food as it effectively passes right through him without his absorbing the nutrients from it. Secondly, the digestive enzymes that don't get into the stomach cause damage to his liver and pancreas. In time, this damage can produce cirrhosis (or scarring) of the liver and diabetes, since the damage to his pancreas destroys the cells that produce insulin.

Lung Issues
In Bennett's lungs, the mucus builds up in the alveoli (the sacs at the ends of the branches of the bronchial tubes) where oxygen and carbon dioxide flow in and out of the blood. This thick mucus prevents gas exchange and, if not removed regularly, can cause lung failure. Furthermore, the mucus provides a breeding ground for bacteria and as a result Bennett is much more susceptible to lung infection, especially pneumonia.

The most common cause of death for people with CF is lung failure.

Treatment
Much of what will be done to treat Bennett will be simply to maintain Bennett's health as best as possible.  There is no cure for CF and, therefore, no way to make the body work properly.  Therefore, treatment involves preventing infection and keeping the body as healthy as possible for as long as possible.  However, deterioration of the body due to this mucus is ultimately unavoidable.


To help Bennett get all the nutrition he needs, he is being given copious amounts of vitamins each day.  At some point, he will be given enzymes to take before he eats so that his body will properly digest food.  Since many CF patients struggle to gain weight properly ("failure to thrive" - a common symptom of CF), Bennett is given a supplement to his breast milk with pre-digested formula.  He will likely be fed through a tube in his stomach at night, as well, in order to help him get enough calories.

To prevent damage to his lungs, Bennett will receive regular Chest Physical Therapy (CPT) four times a day. He will inhale Albuterol, which expands his bronchial tubes (which are narrower than most people's since they are coated with thick mucus) and we will literally beat on his back and chest to help dislodge mucus from his lungs.

Unfortunately, in time, Bennett will likely catch a respiratory infection.  He will be given antibiotics when this happens.  At this point, he'll likely stay on antibiotics for the rest of his life to prevent infection.

Exercise is very important for Bennett throughout his life as it will help to increase his lung function. 

Many Cystic Fibrosis patients are given double lung transplants as an end-stage treatment.  We will certainly consider this option if necessary.


Bennett's treatment will continue to change throughout his life.  We will know more about his treatment when we meet with the CF specialists in Fort Worth next month.

Prognosis
The life expectancy for Cystic Fibrosis has increased exponentially in the last 50 years. In 1959 the average life expectancy for a child born with CF was 18 months. In 1980 it was 14 years. Today Bennett is expected to reach at least 35 due to increasingly more effective treatment.
Because Cystic Fibrosis is the most common life-shortening genetic disease among Caucasians, there is a tremendous amount of research devoted to its treatment and cure. One possible cure is gene replacement therapy - the hope that Bennett could replace one of the faulty copies of his gene with a normal one.

Although finding out Bennett has CF has been tragic for us, we are fortunate to know now rather than later as early intervention and treatment will give him the best possible chance at thriving.


One Response to “Understanding Cystic Fibrosis”

  1. Thanks for the informative post. I had read up a little on it and it seems CF treatment and life expectancy has come a long way. I keep learning of more people with CF. One of Garth's fraternity brothers has been dating this girl for a couple of years now. Apparently, Garth just learned that she has CF. She's gorgeous and a wonderful person. She is just one of the many people we've come across lately that have CF or know people who have it.

    All that being said, I know all of this treatment sounds daunting. I know life will not be easy for Bennett. However, the more people I hear about with CF, the more I'm convinced he will be able to live a full life. Have faith!

    Much love to you all,
    Laura

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