About Cystic Fibrosis

When Joe and I found out Sienna had Cystic Fibrosis, we had both heard of the disease but knew nothing about it.  This has been a common theme among our friends and family as we share this news, so I thought it might be helpful to share information on what exactly Cystic Fibrosis is and how it affects the body. 

I took this directly from the Cystic Fibrosis Foundation website: 

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.

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.

Statistics

• 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 population is age 18 or older
• The predicted median age of survival for a person with CF is in the late 30s

Vsit the CFF website to learn more about the therapies and treatments for a typical CF patient.  Someday in the near future, many of these will be built into our daily routine with Sienna.  We haven't needed to start any treatments at this time and will just continue to work closely with our CF clinic to monitor her health.

We are able to stay strong and positive knowing what we do about CF as there have been tremendous advancements in treating this disease in recent years.  One drug is already available for those with the G551D mutation (about 4% of CF population - sienna does not have this mutation) that actually corrects the underlying issue of CF; it doesn't just treat the symptoms.  This is a HUGE win for those with Cystic Fibrosis. We are hopeful that the pharmaceutical companies that partner with CFF will continue making great strides in developing treatments and hopefully one day find a cure!