Shay’s Diagnosis

Shay was diagnosed with cystic fibrosis on December 28, 2022, after the heel prick screening (newborn bloodspot screening) came back as positive. This screening is conducted on newborns to check for nine rare but serious conditions, including CF which was only added to the list in 2011 in Ireland. Early diagnosis of CF has been shown to improve quality of life.

After the positive screening, the blood was sent off for genetic testing. The results of this test provided further confirmation of the diagnosis and labelled the strains of each of the two mutated genes.

A few days later, we were sent to another hospital to complete the sweat test. This painless procedure is considered the gold standard for accurately diagnosing cystic fibrosis and would be the third and final test to confirm his diagnosis. The test measures the concentration of chloride excreted in sweat, as those with CF have defective chloride channels resulting in an elevated concentration of salt in the person’s sweat. Shay’s sweat test came back positive which was the final bow to tie around the diagnosis: Shay has cystic fibrosis.