WE'RE STEPPING UP TO HELP SAVE KIDS’ LIVES
This May, I’m walking 6,000 steps a day to help Children's Medical Research Institute (CMRI) find cures for genetic diseases and childhood cancers.
Liam was diagnosed in February this year with a rare genetic disease called Primary Ciliary Dyskinesia.
Primary ciliary (SIL-e-ar-e) dyskinesia (dis-kih-NE-ze-ah), or PCD, is a rare disease that affects the tiny, hair-like structures that line the airways. These structures are called cilia (SIL-e-ah).
Cilia move together in wave-like motions. They carry mucus (a slimy substance) toward the mouth to be coughed or sneezed out of the body. The mucus contains inhaled dust, bacteria, and other small particles.
If the cilia don't work well, bacteria stay in your airways. This can cause breathing problems, infections, and other disorders. PCD mainly affects the sinuses, ears, and lungs. Some people who have PCD have breathing problems from the moment of birth.
For Liam, he was admitted into NICU at 4 days old with pneumonia and placed onto a CPAP machine, then later onto straight oxygen to keep his saturation levels up. He was there for three weeks before we were allowed to bring him home. We did not know this was because of PCD, as he was born five weeks early and sometimes premmie babies need to be in NICU.
It has been a long journey to get us to this diagnosis, but he has had the most amazing team of doctors and specialists helping us every step of the way.
Countless ear infections saw Liam undergo three separate surgeries for grommet insertion between the ages of two and five years old. He has also had his adenoids removed. These ear infections are also indicators of PCD.
Recurrent chest and upper respiratory infections since birth have seen Liam spend most of his seven years on this earth on some form of antibiotic. His GP was at a loss as to what to do, but thought that there must have been more going on then just being unlucky and getting sick all the time.
Liam's respiratory physician, Dr Bruce Whitehead has played a pivotal role in getting a diagnosis for him. By looking past Liam's initial asthma diagnosis and doing further testing after being suspicious of PCD, Liam was sent down to Concord Hospital for Cilia biopsies with Prof. Lucy Morgan.
We are now active participants in the REPEAT clinical trials, trying to get TGA approval for the drug Erdostine to be used in the treatment of kids with PCD. This research is so important moving forward.
Liam is also a patient of the newly formed Complex Respiratory Clinic team (CRC) at the John Hunter Children's Hospital, where he has Respiratory Specialists, Dieticians and Physiotherapists all working together to help him stay as healthy as possible.
One in 6,000 kids are diagnosed with PCD and out of those kids, only one third will also have asthma as well. Liam is part of that group. It does mean that one of the usual treatments used to help PCD kids loosen their mucus (hypertonic saline nebulizers) also causes flare-ups of Liam's asthma.
We are learning every day.
If we can stay on top of Liam's infections, this will reduce the amount of permanent damage made to his lungs (and yes, sadly, there is already permanent damage made). Hospital admissions every 3-4 months for a 7-10 day course of IV antibiotics are the new normal for us.
As a mum, I now carry a pulse oximeter in my handbag, so I can make sure Liam's saturation levels don't get too low and it helps me know when we need to go to the hospital and get him onto oxygen.
I am learning to see (or hear) the signs of when his oral antibiotics aren't quite cutting it. We now have a permanently half-packed suitcase for when those stays in hospital are needed.
Walking every single day isn’t going to be easy, but it’s nothing compared to the challenges facing children and families affected by these diseases.
I’m glad to be doing my bit to help step up the pace on much-needed research and I’m hoping you can do the same by making a donation today.
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