Diagnosis and Genetics –

Cystic fibrosis is a genetic disease. People with CF have inherited two copies of the defective CF gene — one copy from each parent. Both parents must have at least one copy of the defective gene.

People with only one copy of the defective CF gene are called carriers, but they do not have the disease. Each time two CF carriers have a child, the chances are:

• 25 percent (1 in 4) the child will have CF
• 50 percent (1 in 2) the child will be a carrier but will not have CF
• 25 percent (1 in 4) the child will not be a carrier and will not have CF

The defective CF gene contains a slight abnormality called a mutation. There are more than 1,700 known mutations of the disease. Nick’s mutation is the most common in the CF world where mine is a bit more rare which can throw a loop in the medications as they don’t know how Maddox will react. Most genetic tests only screen for the most common CF mutations. Therefore, the test results may indicate a person who is a carrier of the CF gene is not a carrier.

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Diagnosing cystic fibrosis is a multistep process, and should include a newborn screening (which came back for us on Day 5) a sweat test (Maddox rocked his test as they basically heat you up so you sweat to collect the numbers), a genetic or carrier test (Nick and I went through this testing to understand who had which mutation), and a clinical evaluation at a CF Foundation-accredited care center (our CF team in GB).

According to the Cystic Fibrosis Foundation Patient Registry, in the United States:

• More than 30,000 people are living with cystic fibrosis (more than 70,000 worldwide).
• There are about 800 individuals in the state of Wisconsin alone.
• Approximately 1,000 new cases of CF are diagnosed each year.
• More than 75 percent of people with CF are diagnosed by age 2.
• More than half of the CF population is age 18 or older. When Nick and I were his age, the life expectancy was 10 years old and in the next blog posts we will talk on the future!

Information provided by http://www.cff.org