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A new cystic fibrosis diagnosis can be overwhelming and all consuming. Cystic Fibrosis Canada can help you through this news by connecting you with important resources and information.
The below information will provide you with information on how CF is diagnosed. To learn more about the importance of Newborn screening and the Newborn screening advocacy program across Canada please click here.
In many provinces, early diagnosis of cystic fibrosis happens through newborn screening programs. Shortly after a baby is born, a small blood sample is taken from the baby’s heel. The blood sample is sent to a laboratory, where it is screened for a number of different health conditions. The laboratory screens for cystic fibrosis by testing for a chemical made by the pancreas called Immunoreactive trypsinogen (IRT). If the initial IRT screen is high or positive, more testing at a specialized CF clinic is needed to determine if the baby has cystic fibrosis or not. These tests will include a sweat test, but other tests may also be done such as detailed genetic testing looking for CF genes. If more genetic testing is needed, a cheek swab or a blood sample may be required.
The sweat test is a good test for diagnosing cystic fibrosis. It is an accurate test, detecting abnormal function of the cystic fibrosis protein. It measures the amount of chloride (salt) present in the sweat. Cystic fibrosis is the most common cause of an elevated sweat chloride level. The sweat test does not hurt at all, and is done by collecting a small amount of sweat from the skin.
In children who are not diagnosed by newborn screening, most are diagnosed with cystic fibrosis once they start to show symptoms. The most common of these symptoms include chronic coughing or not gaining weight as well as expected. There may also be signs of bowel movements which are not normal. These symptoms will signal to your doctor to order a sweat test.
After newborn screening, some infants will be diagnosed as Cystic Fibrosis Screen Positive Inconclusive Diagnosis (CFSPID). This indicates your baby has a positive newborn screening result, but does not meet all of the criteria for a cystic fibrosis diagnosis.
BC Children’s Hospital and Hospital for Sick Children in collaboration with the CF Newborn Screening Working Group have created an information sheet for families who receive a CFSPID diagnosis. This resource is available for download here.
Cystic Fibrosis Canada has developed a list of resources, both federal and provincial, available for you and your family to access many areas of support, and to identify sources of financial assistance, tax credit opportunities, and insurance for persons with cystic fibrosis. These can be accessed in Resources for CF patients and their families.