Primary ciliary dyskinesia, (PCD) causes life-threatening lung infections in both of my children, Heather and Logan. Along with chronic respiratory tract infections, PCD also causes abnormally positioned internal organs, and the inability to have children in some people.
Signs and Symptoms of Primary Ciliary Dyskinesia, PCD
Abnormal cilia cause the signs and symptoms PCD. Cilia are microscopic, finger-like projections that stick out from the surface of cells. They are found in many areas of the body: in the linings of the airway, towards the upper airway in the throat, the reproductive system, and other organs and tissues. PCD also causes abnormal tail-like structures, similar to cilia, that propel sperm cells forward.
In the respiratory tract, cilia move back and forth in a coordinated way to move mucus towards the throat, away from the lungs. Without proper movement of the cilia, elimination of fluid, bacteria, and particles from the lungs isn’t possible. People with primary ciliary dyskinesia also have year-round nasal congestion and a chronic cough.
Bronchiectasis
Chronic respiratory tract infections can result in a condition called bronchiectasis, which damages the passages, called bronchi, leading from the windpipe to the lungs and can cause life-threatening breathing problems.
Before scientists did genetic research using our family’s genes, doctors diagnosed Heather and Logan with bronchiectasis, however, they didn’t know how it was caused. Sometimes reflux causes bronchiectasis so both of my children had invasive surgery to correct their reflux.
Heather and Logan’s Early Symptoms
Both of my children experienced breathing problems at birth, and throughout their early childhood. They were both on antibiotics for ten years to avoid life-threatening infections. Although their chronic infections suggested problems, a correct diagnosis didn’t occur until their mid 30’s.
In March of 2010, we became the first family worldwide to have our family’s entire genomes sequenced. This research resulted in finding out Heather and Logan have bronchiectasis because they inherited the lung disease, PCD.
To inherit PCD, both parents must carry the disease-causing recessive gene, which results in each pregnancy having a 25% chance of producing a child with PCD. This is due to the child receiving two affected genes; one from mom and one from dad.
For answers to a list of FAQ you may go to the PCD Foundation website link below:
https://www.pcdfoundation.org/about-pcd/faqs
