After a perfectly normal pregnancy and C-section delivery, when Claudette was just two days old, she was transferred to the Special Care Nursery with low oxygen levels. After three long weeks in the Special Care Nursery and seeing many confused doctors unsure of what was going on with her, it was thought Claudette must have caught pneumonia after birth. When she was three weeks old, Claudette was finally well enough to go home. But after only a few days at home, it was apparent Claudette was still having difficulty breathing.
After presenting to the emergency department at our local hospital, Claudette was transferred to a larger hospital. Her lungs were collapsing, and she was admitted to the Intensive Care Unit with dangerously low oxygen levels. One week later, when she became stable enough, at just five weeks old, Claudette had her first general anaesthetic so that doctors could examine her lungs in more detail and try to understand what was wrong.
Following this examination, we were told that one of the three possible explanations was a very rare lung condition called Primary Ciliary Dyskinesia (PCD). We still spent another three weeks in hospital while doctors stabilised Claudette’s breathing and investigated every possible reason her lungs weren’t working properly. Finally, when she was two months old, we were able to take her home, along with an oxygen machine and nasogastric tube to support her breathing and growth. Claudette spent another two months on a home oxygen machine, attached to an eight-metre cord, until she was finally able to breathe safely on her own.
The process to be diagnosed with PCD is very long. There are only two doctors in Australia who can test for it – one in Sydney and another in Melbourne. Typical wait times are six to 12 months for an appointment, and families fly to these cities from all over Australia for testing. We were very lucky to be living in Sydney.
A couple of months before our scheduled appointment, we received a call to say there had been a cancellation and we could come in that day. We met the professor in her lab, where she put a sample straight under the microscope and confirmed that Claudette’s cilia, which should normally wave, had no movement. She was four and a half months old at the time when the PCD diagnosis was confirmed.
Claudette has spent most of her life on antibiotics. They are used to prevent lung scarring. When Claudette has a lot of oral antibiotics and they don’t seem to be enough, we switch to IV antibiotics. Claudette also has regular tune-ups, which involve having a general anaesthetic to place a midline IV in her arm so she can receive a two to three week course of IV antibiotics.
Claudette has already had eight general anaesthetics at just two years old. The cilia in her ears are also affected, which means she wears a hearing aid to hear properly. But she doesn’t let this, or the twice-daily physio and nebuliser treatments and awful-tasting antibiotics stop her. Frequent specialist appointments and check-ups have become her normal.
Despite it all, Claudette is the happiest, cheekiest, and most caring girl. She loves jumping on the trampoline, singing, dancing, and playing with her big sister. She has recently started family daycare and gets ready an hour early because she can’t wait to see her friends.
We are extremely lucky to have an amazing medical team, including a wonderful occupational therapist who sees her weekly through the National Disability Insurance Scheme (NDIS). Claudette gets to live an ‘almost’ normal life because we have access to healthcare and the NDIS.
We were very fortunate to receive such an early diagnosis. PCD is often not diagnosed until a child is four or five years old and after having lots of unexplained respiratory issues. Being so rare makes the path to diagnosis and treatment extremely difficult. I can’t tell you the number of doctors and nurses I’ve met who have told me they have never seen a case of PCD before. We are so proud of Claudette – she is so resilient. We will never stop advocating for her. I hope she grows up knowing that being rare is a special journey with unique challenges and that she has so much to be proud of.
