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 patient population is age 18 or older.
- The predicted median age of survival for a person with CF is in the late 30s
**Courtesy of the Cystic Fibrosis Foundation (cff.org)
For our first post after Finn's diagnosis, click here.
Finn's Mutation Information
For a person to have CF, they need to have 2 different CF causing genetic mutations. Currently, there are over 1,900 identified mutations that can result in CF.
Finn's 2 mutations are: Delta F508 and 3905insT.
The Delta F508 mutation is the most common among CF patients. Nearly 90% of CF patients have at least one copy of this mutation. It is catergorized as a Class II mutation (there are 6 classes of mutations based on how the CFTR protein responds to the mutations). Currently, there are a few drugs now approved to treat this genetic mutation--Orkambi, Symdeko, and Trikafta. Orkambi and Symdeko are for those patients with two copies of DF508. Trikafta can be used for those with only one DF508 mutation and it's currently approved for use in those that are 12 years old and older.
Finn's 3905insT mutation is one of particular interest. This mutation is known to occur almost exclusively among certain populations. Specifically, this mutation occurs in those of Amish or Mennonite descent. The other population that it affects are those of Swiss descent. To read about our connection to these ethnic groups, click here. The incidence of this mutation occurring outside of these populations is so rare that there are no statistics. In other words, there is no doubt that I am the carrier of this mutation.
3905insT is catergorized as a Class I mutation. In other words, this is a "stop" mutation. As a result of this mutation, the body does not produce any CFTR protein. These mutations are known to cause more severe courses of CF.
For our first post after Finn's diagnosis, click here.
Finn's Mutation Information
For a person to have CF, they need to have 2 different CF causing genetic mutations. Currently, there are over 1,900 identified mutations that can result in CF.
Finn's 2 mutations are: Delta F508 and 3905insT.
The Delta F508 mutation is the most common among CF patients. Nearly 90% of CF patients have at least one copy of this mutation. It is catergorized as a Class II mutation (there are 6 classes of mutations based on how the CFTR protein responds to the mutations). Currently, there are a few drugs now approved to treat this genetic mutation--Orkambi, Symdeko, and Trikafta. Orkambi and Symdeko are for those patients with two copies of DF508. Trikafta can be used for those with only one DF508 mutation and it's currently approved for use in those that are 12 years old and older.
Finn's 3905insT mutation is one of particular interest. This mutation is known to occur almost exclusively among certain populations. Specifically, this mutation occurs in those of Amish or Mennonite descent. The other population that it affects are those of Swiss descent. To read about our connection to these ethnic groups, click here. The incidence of this mutation occurring outside of these populations is so rare that there are no statistics. In other words, there is no doubt that I am the carrier of this mutation.
3905insT is catergorized as a Class I mutation. In other words, this is a "stop" mutation. As a result of this mutation, the body does not produce any CFTR protein. These mutations are known to cause more severe courses of CF.
