In April I interviewed mothers of children with illness. I have one more story to share in this series that needs to be heard. I’ve known Claire for many years, and I knew I wanted to share her story for the April series when I was in the planning stages. Claire’s son, Joshua, is battling an “invisible” condition – Cystic Fibrosis. Not knowing much about CF, I asked Claire to share a bit about what CF actually was, as well as to share the ins and outs of being a Cystic Fibrosis Real Mum. Her story is insightful, emotional and inspirational as Claire, her husband Chris and most importantly Josh, are on the frontline every day battling CF. Grab a cuppa and take a moment to read this story! Thank you so much for sharing Claire x
Hi Claire! Thank you so much for joining us this week for the Real Mums series and sharing your story as a mum of a child with illness. To start us off, could you introduce us to yourself and your family?
Thanks Fi! I’m married to Chris and we have one son, Joshua, who is 3 and a half. Chris and I have been married for 12 years. We live on the north side of Sydney close to Josh’s grandparents and most of his aunts, uncles and cousins. Josh is a happy energetic and cuddly little boy who has Cystic Fibrosis – so it’s also good for us to be close to Westmead Children’s Hospital for regular visits and check ups.
What do you do with your time – both for work and for leisure?
Before Josh was born, I worked as a solicitor advising charities and not for profits on corporate governance, corporate structuring and tax. Since Josh was born I’ve run some training and served on the board of a Christian Charity and next month I’m dipping into doing some lecturing on church and not for profit law. Chris is a youth pastor at our local church – so I also spend time on camps with him encouraging and supporting teenagers and our young adult leaders, and I lead a small bible study group of young mums each week. I love to read (mostly historical fiction) and Chris, Josh and I are (crazy) Sydney Swans fans – we all have membership and get to any games we can. I’m trying at the moment to build my fitness – so I’m going out for runs (although not as regularly as I’d like), or doing workouts at home. I love catching up with friends, hanging out with my sister and brother, and going out for milkshakes with Josh.
You mentioned that Joshua has Cystic Fibrosis. Can you tell us a bit about CF?
In simple terms, CF is a genetic condition that affects the exocrine system – that’s the part of the body that’s responsible for sweat, saliva, tears and mucus. People with CF lose too much salt through their sweat and as a result develop an abnormal amount of excessively thick mucus in the lungs, airway and digestive system. For the digestive system, in most cases the enzymes needed to breakdown fats don’t move through the digestive system properly. In the lungs, it results in bacterial infections in the sticky mucus, ultimately resulting in lung damage.
CF affects approximately 1 in 2500 people – estimates are that a baby is born with CF in Australia approximately every 4 days. It is a recessive genetic condition, meaning that both parents need to be carriers of a faulty gene to pass the condition onto their children. It is considered a rare and life shortening genetic condition, for which there is no cure.
How did you and Chris find out about Joshua’s condition? What was the process for diagnosis?
CF is one of the conditions that is tested for in the newborn screening carried out a few days after birth (the ‘heel prick test’). When Josh was about 3 weeks old, we received a call from his paediatrician telling us that his heel prick test showed that he carried one CF gene, Df508 (there are lots and lots of CF mutations, this one is the most common in Australia) and that an appointment had been made for us at Westmead Children’s Hospital to do a sweat test. The sweat test involved putting electrodes on Josh’s arm to stimulate sweat production and then a dressing for half an hour to absorb the sweat produced. This sweat is then tested to measure its chloride levels – levels above a certain number (I think it was 60 – normal non CF levels would be under 30 – Josh’s level was over 100) are considered to be a definitive diagnosis of CF. We followed up with the paediatrician later that day and were advised of his positive result and referred to the CF Clinic at Westmead Children’s Hospital.
Obviously your son being diagnosed with CF would have been devastating – I can’t imagine what you and your family have been through in this whole process. How did you and Chris work through all the emotions and thoughts that went with this diagnosis?
I think it is one of those weird things where you go through so many emotions so quickly. I remember getting the phone call from the paediatrician when Josh was about 3 weeks old. The first thought was something irrational (like “oh, isn’t he nice for calling personally to confirm our follow up appointment”) but you never want to assume bad news.
Luckily with Josh, he had no symptoms of CF at birth like a lot of children with CF do (for example, needing immediate surgery to clear a blockage). There was a lot of surprise for us that this was even something we were having to think about since everything seemed so fine. Our family were shocked – we can’t point to anything in our family history. However the reality for CF is that it’s only be diagnosed for a couple of generations – in our grandparents’ generation a child with CF may have just been a sickly child who failed to thrive and died young. Because CF is recessive, and both parents need to be carriers to pass on the faulty gene to a child (and even then chances are 1 in 4), it can skip generations – it is so rare. So for us, the CF diagnosis was a complete shock.
I still remember when Chris spoke to the paediatrician on the phone after the extra tests, I kept waiting for him to respond with a cheerful “No problem, thank you”, which never came. It was a difficult day.
It was also strange for us to work through the concept of having a perfectly healthy baby, in every way, who at the age of 4 weeks old was just diagnosed with a life shortening, genetic condition that could (or will) kill him.
We had a hard time getting pregnant with Josh – to some extent he is our miracle baby. We trust that it was God’s timing and God’s plan for Josh to come when he did. So soon after the diagnosis, I had a sense that God was preparing me to have a child with special needs, as we had been waiting a long time to have a child. God strengthen us and our marriage and gave us friends at the same stage of life to support us through it all.
Obviously we had those first thoughts of “I can’t believe that something is wrong with my beautiful boy,” and “God made him this way and we don’t know why”. Of course there was grief, where we sat and cried. We were upset when telling our immediate family. We had to do it through text message as that was all we could cope with at the time, but we needed them to know straight away.
Now we’re in a stage of getting on with this as our reality, although every now and then something will hit me – like you see something on TV shows or read in books about CF that causes the emotions to flood back. To an extent, I think we still have a lot of learning and coping to do – Josh has been really healthy so far. He’s had no hospitalisations, he hasn’t cultured any nasty bacteria in his lungs, has had no major digestive complications. There’s an element to which we haven’t had to deal with the really hard stuff yet. We know the first hospitalisation will likely be tough, but we haven’t got there yet.
One of the strange things with CF is that because it is a chronic illness, there is no crisis or emergency stuff. There is no rushing, it is all drawn out, a lifelong condition. CF is a life-shortening condition, and it is really scary to think about the implications of that. On the other hand, however, life expectancy is just a statistic. We trust in God and our hope in heaven means that life is not all there is, so that helps was to process and deal with that to an extent.
Joshua has grown into such a happy and vibrant boy. How is he coping with Cystic Fibrosis, and the processes that go with that, for example taking his medication?
Honestly, he doesn’t know any different. CF is the only reality he knows and it’s his only life experience. Josh takes liquid vitamins every day and approximately 20-25 scoops of pancreatic enzymes per day as needed with food. He is also regularly on oral antibiotics – probably 6-10 courses per year (in his first year he was on antibiotics full time to protect against common infections). Josh takes his meds himself and knows that he needs them – he’s very good at reminding us he needs his meds! In addition, Josh needs to breathe hypertonic saline through a nebuliser regularly, especially when he has a cough, and daily physiotherapy on his chest to help move the mucus in his lungs.
He’s comfortable with most of his treatment – he doesn’t love the physiotherapy but loves letting his doctor listen to his chest. His least favourite treatment is the regular sputum collection – his nurse puts a suction tube down his throat to collect sputum for testing on each visit and it’s always distressing. Eventually he’ll learn how to cough up the sputum himself so it doesn’t need to be suctioned. His treatment team are great and work hard to make treatments fun and engaging – jumping on the trampoline and blowing bubbles in water make for great physio!
His diet is different from other kids his age. He needs a large amount of salt in his diet each day – even as a baby he needed as much salt daily as is recommended for an adult! When he was a little baby we dipped our finger in salt and put it in his mouth – now he has his meds with salted puréed apple (a true delicacy!). He also needs a higher fat diet than is normally considered ‘healthy’ – so has regular desserts and milkshakes, and chips are actually very good for him.
He understands that other kids don’t need meds with every meal like he does – but so far he seems to understand that he needs them, and trusts us that they are keeping him healthy and enabling him to grow up big and strong. He loves his visits to the hospital and his care team (although these days, poor Sharon his nurse doesn’t get such a friendly welcome – he knows she’s followed by the sputum collecting machine).
On the one hand he’s a very healthy little boy – he goes down to his appointments regularly and he’s used to check ups. Josh has an awareness about his condition, a maturity that should be beyond his age. He shouldn’t have to deal with this stuff yet.
The team at Westmead Kids is incredible. Without the support there it would be much harder to work through. There is a fantastic group of doctors, nurses, and specialists. Plus he has a great GP and Paediatrician. There is a whole team that are caring for him and looking out for him, as well as caring for us and I think that’s amazing.
We go to the Clinic every 3 months, and in the space of 2 hours Josh sees 4-5 specialists, including the physio, dietitian, gastroenterologist, nurse… He has flu shots, sometimes blood tests, sometimes a chest x-ray, and soon he’ll start to have regular lung functioning tests. If we had to make all those appointments individually and see those people, we’d spend 2 weeks every 3 months sitting in appointments. However the way this clinic is set up, we only spend 2 hours every 3 months in appointments which is amazing. Plus the specialist team is always on the end of the phone on any work day if we have concerns about Josh’s health. We have a whole specialist team on speed dial which is such an amazing gift and makes it so much easier to deal with because that support is there constantly. The way the clinic is set up has been a massive help.
Treatment for CF is aggressive and preventative. The idea is you’re treating to prevent infections from arising to help their lungs. The aim is for someone with CF to get to adulthood with healthy lungs. Sometimes it can be challenging when he is healthy to go through treatment, because we want him to go out and experience a “normal” childhood. However we have to be mindful to keep up with the treatment to prevent any issues arising. So for example, Josh has to avoid swimming in indoor pools and squirty bath toys, as they can grow black mould (For example, the Sophie’s!). That mould is what we need to avoid. We have to be ultra-protective around that kind of thing, because while that mould would make most kids just a little sick for a day or two, for Josh it can be really serious.
Another challenging thing with CF is they don’t encourage people with CF to interact with others who also have CF. Because the primary issue is around bacterial infections, and these can be easily passed on, they discourage people with CF spending time together to avoid infection. As Josh grows up, there aren’t going to be weekends away or support networks for him with other children with CF, although social media can make a difference to that. As parents, it’s also not that easy to meet other parents of children with CF. We’re not in the waiting rooms chatting – instead we’re keeping the kids apart to avoid cross infection. It can be very isolating.
You and some family/friends recently participated in the 65k Roses fundraiser for Cystic Fibrosis. What did this fundraiser entail? How does participating in fundraisers such as this impact you and your family?
The concept of 65 Roses comes from the fact that most children with CF try to say “Cystic Fibrosis” and end up sounding like they say “65 roses”. This organisation had a big fundraiser recently – a walkathon to raise money for the CF clinic at Westmead and Cystic Fibrosis NSW. Most of my family did a 7k walk with us to support Josh, and my sister, brother-in-law and I did 3 laps (21km). In the grand scheme of things, walking doesn’t do much but it does help us to raise awareness as well as some much needed funds. We were absolutely blown away by the support we raised, as well as the overall funds raised by the event. There is a lot of support out there, and for us participating is about coming together as a family and saying to Josh that this is important; that we want to fight it and not just sit back and accept it. We want to fight for a cure and for better treatments, and we want to try to find a way to do that as a family. The support of our family, friends and community just blew us away. I think it made Chris and I feel very supported in this whole process. Because it is an everyday thing, it can feel like it can be forgotten, but having the support was so lovely. It felt like a we had a real big community support base; and for an isolating condition that’s a real blessing. We love to do events like these to do our bit in finding a cure, and it is nice to be encouraged in that way by other people.
You have gone through such a range of experiences and emotions with Joshua’s diagnosis and continued treatment. What advice would you share with new mums out there who might be going through the beginning stages of diagnosis or coping with life having a child with illness?
Don’t necessarily fill your mind with information that isn’t your reality yet. There are so many different possible outcomes and we can research all of them and panic about all of them, but all we need to do is treat and care for the child that is in front of us. When it is a long-term condition like CF, I don’t think you need to be thinking now about how you’re going to deal with it when they’re a teenager – we’ll deal with that when we come to it, knowing how the condition has played out for Josh. For example, how are we going to deal with hospitalisations for Josh? We don’t need to know that yet, so we will deal with it as it comes.
Trusting your care team to give you the information you need and share with you along the way. Our team is fantastic – it feels like it’s a partnership with Josh’s care team – they realise it is the parents on the frontline everyday. There is a lot of information out there – conferences, reading, web pages, forums etc. We’re trying to get enough information to deal with what we need to deal with – not panicking about down the track what might or might not happen. For example, Josh’s future may involve a lung transplant, but that doesn’t help us deal with the 3.5 year old in front of us. So we take each thing as it comes. It is all he knows and all we know.
Ultimately, I’m thankful for the diagnosis – I try to think of it as knowing in advance one of the things I’m battling, whereas other mums are battling the unknown. Even though it has been a real hard process to work through, it has become our reality, our norm, and we just take it one step at a time.
Thank you so much for joining us and sharing your story Claire! If you’d like to learn more about Cystic Fibrosis, or offer support for finding a cure, visit Cystic Fibrosis Australia HERE or the 65 Roses website HERE.