Tuesday, February 5, 2013

Share the Love for Quinn 2013: mutants...not the turtle ninja kind

What Is Cystic Fibrosis?

Cystic fibrosis is an inherited chronic disease that affects the lungs and digestive system of about 30,000 children and adults in the United States (70,000 worldwide). A defective gene and its protein product cause the body to produce unusually thick, sticky mucus that:
  • clogs the lungs and leads to life-threatening lung infections; and
  • obstructs the pancreas and stops natural enzymes from helping the body break down and absorb food.
In the 1950s, few children with cystic fibrosis lived to attend elementary school. Today, advances in research and medical treatments have further enhanced and extended life for children and adults with CF. Many people with the disease can now expect to live into their 30s, 40s and beyond. (from www.cff.org)

(To learn more about CF, here is a video we shared yesterday about Quinn, CF, and the CF clinic made by Ethan and Corina Burke.)

 What does this mean for Quinn?

It means a lot of things. Quinn has inherited two mutant or defective genes from Ryan and me. One is the most common among people with CF (called Delta F508) and the other is one that had not been identified previously. Johns Hopkins maintains a huge database of these gene mutations as part of ongoing research. 

For folks with two Delta F508 mutations, symptoms are often more severe. Because Quinn only has one copy of the Delta F508 and this other new mutation, we don't know what that means for Quinn. The doctors aren't able to predict how sick Quinn will be. We just have to take each day as it comes.

In 1989, the CF gene was identified. In January 2012, a drug was approved by the FDA called Kalydeco. This was a BIG deal. This drug was effective in patients with a different genetic mutation than Quinn's but the amazing thing was that it helped the gene function more like it was supposed to. Not 100% function but instead of constant thick, sticky mucus, it thinned the mucus out and improved lung function!!! BIG NEWS!

Work is being done to develop a similar drug that would benefit people with the Delta F508 mutation--the testing is for people with both Delta F508 mutations. I'm not sure how this might impact Quinn in the future because he only has the one Delta F508 mutations.

This is why we are partnering with the Cystic Fibrosis Foundation Great Strides Campaign to raise money to fight this disease. We know there are many needs in the world right now but if you feel compelled to "Share the Love for Quinn" to donate $1 or one million dollars you can click on Team Win With Quinn and donate to our campaign to raise $3000.

 Quinn at the Great Strides Walk 2012

Here is a little more information about Cystic Fibrosis:

Symptoms of Cystic Fibrosis

People with CF can have a variety of symptoms, including:
  • very salty-tasting skin;
  • persistent coughing, at times with phlegm;
  • frequent lung infections;
  • wheezing or shortness of breath;
  • poor growth/weight gain in spite of a good appetite; and
  • frequent greasy, bulky stools or difficulty in bowel movements.
  • About 1,000 new cases of cystic fibrosis are diagnosed each year.
  • More than 70% of patients are diagnosed by age two.
  • More than 45% of the CF patient population is age 18 or older.
  • The predicted median age of survival for a person with CF is in the late 30s.
    (from www.cff.org)

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