A VOYAGE OF AWARENESS: Lee, Mason and Julie Hayes are leading a local charge to shine a spotlight on a rare respiratory and lung condition called Primary Ciliary Dyskinesia (PCD). Mason, 4, was diagnosed with PCD 18 months ago, with the Hayes, and a few friends, to travel 544km by river in October in an effort to raise funds and awareness. Photo: PAUL MENSCH
By VINNIE RODI
A MILDURA family is gearing up to travel 544km in a ‘tinny’ in an effort to raise vital funds and research for a little-known about, and rare, respiratory and lung condition.
Primary Ciliary Dyskinesia (PCD) is considered one the world’s silent and rare health conditions, with not a lot known about the disease, and no known cure currently in existence.
Mildura’s Julie, Lee and Mason Hayes, however, know all too well the effect the condition can have on an individual, with four-year-old Mason diagnosed with PCD 18 months ago.
“We’d never heard of it before, our GP didn’t know anything about it either,” Lee said.
According to recent figures, only 32 kids in Victoria are currently diagnosed with PCD – further demonstrating how rare the condition is.
Lee and Julie said that while Mason is able to live a normal and happy life following his diagnosis and subsequent treatment, they had been “through hell” getting to this point due to a lack of knowledge surrounding the disease.
“When Mason was younger, he was always coughing and sounded really chesty, and we had him through paediatricians, doctors – the whole lot – and we even went through an ENT (ear, nose and throat) specialist in Adelaide,” Lee said.
“Within two months (of seeing the specialist) Mason had his adenoids and grommets removed, which cleared up a lot of the build-up, and we thought things were looking good.
“It wasn’t until we got further down the track that we found that he wasn’t really any better.”
Mason then spent close to two-and-a-half years on antibiotics – which had no effect – before the family decided enough was enough.
The Hayes booked into see Professor Michael Marks at the Royal Children’s Hospital in Melbourne – where Mason was submitted to a number of tests.
“He wanted to test for a couple of things, including cystic fibrosis, which came back negative, and then they tested for PCD, which at the time they didn’t think he had,” Lee said. “As it turns out, that’s exactly what he had.”
The task at hand…
THE Hayes are leading a local charge to change the knowledge and education around PCD, with the scheduled Murray River boat trip, which will take place in early October, aiming to raise vital awareness and funds for the newly formed PCD Foundation, and two local families battling the disease.
“The more we can do now to make people aware of this condition, the better,” Lee said. “It will mean that more people, and even GPs, can be more aware and more sensitive to the condition.”
Lee, Mason and Julie will be joined by a couple of family friends for the trip, which will start in Swan Hill on Sunday, October 6, and conclude in Mildura on Saturday, October 12.
The group will travel at an average speed of 30km/h across the week-long voyage, covering an average 90 kilometres a day to reach Mildura.
Lee said that the group will make stops in a number of towns along the way, including Tooleybuc, Boundary Bend, Nangiloc and Euston, before hosting a major fund-raising event at the Gol Gol Hotel on Saturday, October 12.
“We will also be hosting an event at the Swan Hill Big 4 before we leave on Sunday, and that will feature health professionals and the local hospital,” Lee said. “It will be a chance for us to tell our story, how we’ve come to get Mason diagnosed with PCD, and then field questions.
“We will be doing similar things along the way, including hosting a night at the Euston Club where we will meet with local health professionals and representatives from Mallee District Aboriginal Services on Wednesday, October 9.
“We then have a massive night planned on October 12 at the Gol Gol Hotel, with Mason’s PCD specialist, Dr Phil Robinson, to be in attendance.
“We have 110 tickets available, with the night to include auctions, raffles etc. with 50 percent of the money to go to the PCD Foundation, and the other 50 percent to be split between two local families affected by the disease.”
What is PCD?
PCD is a genetic disease that occurs when a person’s cilia – tiny hairs spread throughout the human body which help flush mucus and infection – don’t work properly.
Being a genetic disease, it’s estimated that close to one in 10 people are PCD carriers – this is compared to cystic fibrosis, where an estimated one in 25 people are genetic carriers of the disease.
The extent of PCD varies case to case, and while it is considered manageable, there is no known cure.
“The aim is to diagnose it as early as possible so that you can get on the right form of medication to try and clear as much of the disease as possible,” Lee said.
“Some kids can go about normal lives, and to look at Mason, he runs around like a normal four-year-old, but you’ll here a chesty cough… especially when it’s cold.”
Mason is currently on a course of antibiotics, distributed through a nebuliser – and is expected to have to manage the condition for the rest of his life.
The medication Mason is on is also quite expensive, and is currently not covered by the Australian Pharmaceutical Benefits Scheme.
As it currently stands, only two doctors in Australia are qualified to treat those with PCD.
“We see Dr Robinson at the Royal Children’s in Melbourne, and we go there every eight to 10 weeks, and see a physio at the same time,” Lee said. “A lot of the physical work is around training Mason’s lungs to get stronger, and function correctly.”
More information about the Hayes’ family’s PCD awareness and fund-raising campaign is available by contacting Lee on 0439 922 618.
The family is also calling on local businesses to sponsor the event, or make donations to support the fund-raiser planned for Saturday, October 12.
Those interested can also contact Lee for more information.
GETTING TO TO THE HEART OF PCD
FOR most of us, our heart is located on the left side of our body, while our liver is on the right.
For a select few people, this is reversed, with the positioning of these organs caused by tiny, small-like hairs called ‘cilia’.
Cilia very early in development, and through their regular beating, move the heart to the left.
These hairs are important after birth, as well as up to 200 of them sit on the lining cells of the upper and lower airway and other parts of the body.
In the airways, they beat up to 15 times a second (for life), and help keep the airway clear of mucus and any inhaled particles, including infectious agents like viruses.
In some people, these cilia, although present, don’t work properly, so the important function of keeping the airway clear of mucus that is produced every minute of our lives is defective.
People with these cilia defects have a condition called Primary Ciliary Dyskinesia (PCD), and almost 50 percent of people with PCD have their hearts on the right-hand side.
As the cilia need to work from the moment we are born, people with PCD often have breathing difficulties as early as the first day of life, even if they are born when expected.
As the cilia cannot work to clear the mucus, people with PCD have to cough regularly to clear their airways.
The same problems in the upper airway often lead to recurrent ear infections and constant runny noses.
As these symptoms are seen in many young children without PCD, the diagnosis of PCD is often missed for a long time, leading to considerable stress for families.
One study suggested that many parents will have up to 40 consultations with medical staff before the diagnosis is suggested.
The Royal Children’s Hospital in Melbourne runs one of two full service diagnostic centres for PCD in Australia, and is able to test people of all ages.
Children diagnosed with PCD are seen regularly in the hospital’s PCD clinic where they are seen by a paediatric lung specialist, as well as a physiotherapist experienced in airway clearance in children.