William’s Story

As told by William’s mum, Rebecca

Hi, my name is William and I am almost one and a half years old. I was born with Kartagener syndrome meaning my internal organs are positioned mirror reversed compared to someone with normal positioning of their organs. Something unique about me is my heart is on the right side of my body. Unfortunately Kartagener syndrome is associated with Primary Ciliary Dyskinesia (PCD).

PCD is an inherited disorder of the moving cilia. Mummy found out I had this disorder 24 hours after I was born as I had trouble breathing. I was in the neonatal intensive care unit (NICU) for four weeks on oxygen until I was able to breathe on my own. A person with PCD experiences chronic, recurrent infections in the lungs, ears and sinuses due to impaired ciliary activity in those areas. To stop the progression of the disease and to protect my lungs, my daily treatments consist of chest physio and nebulising with hypertonic saline twice daily to move the mucus out of my small airways. I have a 24/7 cough and when I’m sick with a cold, my treatments increase dramatically to help move the mucus out of my airways. The little cilia are also in our reproductive systems so when I want to have children when I’m older I will need to undergo IVF.

The main issues with my disorder is that I am prone to many bacterial infections over my lifetime as the little microscopic hairs in my respiratory system do not protect me from common bacteria in our environment. Since I was born, I have been on antibiotics five times and I must have regular sputum samples conducted to see if I have any bacteria in my lungs. I do not like these tests and I cry so much for my mummy and daddy. I also battle daily congestion in my sinuses which makes it hard to eat. I will also have transient hearing loss as I grow due to a build up of fluid in my ears. When I learn to talk, I will need hearing assistance to ensure my speech develops properly.

While I have to be careful of catching colds, respiratory viruses and bacterial infections, I will not let this chronic condition define me. My mummy and daddy will ensure I have a normal and active lifestyle with my brother.

PCD is very rare with as little as an estimated 200 people in Australia with a diagnosis. The support for my disease is very small and at present, there is no standard of treatment for my disorder, which is different from doctor to doctor. My mummy is part of the PCD Foundation, who has a great team of parents working towards and advocating for PCD patients.

Thank you for reading my story,