Thanks to newborn screening, children with cystic fibrosis are now being diagnosed at birth, as my daughter was, rather than after they have been struggling to gain weight and hospitalized with a lung infection or two. Unfortunately, it wasn't until last year that all 50 states were officially testing children at birth for CF, so there are still children out there waiting to be diagnosed. And even with newborn screening, 5% of kids who actually have the condition will be missed due to false negatives. Therefore, it is still important to know the symptoms of CF, which can sometimes take years to diagnose correctly.
Failure to Thrive
Despite having a large appetite, many children with CF will have trouble gaining weight.
Salty Tasting Skin
Since the inability of salt to move through the cell wall is the main problem in CF, those with it will lose salt faster than the rest of us. Because of this, if you kiss a child with CF and lick your lips, they will taste salty.
Frequent Respiratory Illness
People with CF are susceptible to frequent lung infections. Even just a cold can lead to a respiratory infection that requires antibiotics.
Thick mucus in the lungs makes people with CF cough. Their mucus doesn't move freely like ours does and clogs the lungs.
Shortness of Breath
It is hard to breathe with all that mucus in your lungs and frequent lung infections can lead to a decline in lung function making it even more difficult to breathe.
Frequent Greasy, Bulky Stools
Since the pancreas is clogged with mucus, people with CF are unable to properly digest and absorb food, especially fat. Fat goes right through and makes stool look fluffy, greasy, and bulky. Stools are also quite foul smelling.
While it is important to note that CF affects all patients differently, these symptoms are true for many. If your child is exhibiting any of these symptoms, talk to your pediatrician. There are over 1600 CF gene mutations. Even if the doctor dismisses CF, a simple test called the Sweat Test can help you rule out CF.