How to Diagnose Cystic Fibrosis

Cystic fibrosis is a hereditary condition, caused by a gene mutation that triggers serious lung damage, nutritional defects and a host of other complications. While patients' quality of life can be improved through treatment, there is currently no cure for cystic fibrosis. Read on to learn how to diagnose cystic fibrosis.

Instructions

Difficulty: Moderately Challenging

1. Know the signs and symptoms of cystic fibrosis. The disease usually becomes manifest during a person's infancy or childhood. The most common symptoms include a failure to grow and thrive, chronic lung problems, recurrent pneumonia and thick feces. Have a doctor diagnose the cause of any of these symptoms.
2. Bear in mind that cystic fibrosis is among the conditions that newborn screenings can detect. Usually performed by taking a small blood sample from a newborn baby's heel (known as a "heel test"), newborns are routinely screened for a range of genetic and metabolic disorders. The prognosis for people born with cystic fibrosis is much better if a doctor is able to diagnose the disease early in the afflicted person's life.
3. Have your doctor perform a sweat test to diagnose cystic fibrosis. This test measures the concentration of sodium and chloride present in your child's sweat. If it falls within a suspicious range, a second test will be performed on a second day. If it, too, comes back positive, your doctor will then diagnose cystic fibrosis.
4. Ask for genetic testing to be done on a blood sample taken from your child, if you suspect she may have cystic fibrosis. These tests are designed to do a genetic analysis of the person, as well as to check the functioning of the person's lungs, liver and pancreas.
5. Remember that immediate family members may also be screened to determine if a person may have cystic fibrosis. Siblings as well as first cousins of a child suspected of carrying cystic fibrosis can have a sweat test or a genetic test performed on a blood sample. These are typically done to confirm a diagnosis or identify risk factors.
6. Know that help is available if you or your child suffers from cystic fibrosis. The Cystic Fibrosis Foundation offers a range of resources to patients and their families. See the Resources section below for a link.

Tips & Warnings

• If you are expecting a child or are planning a family, both you and your partner can take a cystic fibrosis carrier test. It will help you determine if your child is at risk for being born with cystic fibrosis and can help you plan in the event that your child is born with the condition.