We ask about your experience
1. Can you tell us a little about yourself (or your family)?
- Charli is an 11-year old girl, with a sassy, fierce, and quirky personality who has a deep love of animals. She is especially passionate about birds.
- She is the youngest of two girls in our family, and lives at home with Mum (Liz), Dad (Paul), sister (Scarlett), Dog (Cliffy) and budgie (Nugget).
2. The Journey to Diagnosis:
Many families describe this as an emotional rollercoaster. There is a sense of relief to have answers, but the gravity of the diagnosis and fear of the unknown can be overwhelming. Be honest, but know that others reading will find comfort in your courage and openness.
When did you first notice something was different, and how did you find your way to a diagnosis?
Charli’s diagnosis story has many twists and turns across almost 4 years. The start of this long journey was at her 4-month child health check, where she had dropped from the 85%ile to the 15%ile in weight, and had a seemingly innocuous little cough. We visited our family GP, who after a chest X-ray sent us to our local kids hospital, with suspected pneumonia.
During that first two week admission she was placed on oxygen for “just a cold”, with the expectation that she would fully recover. After a failed discharge, there was another extended stay, where Charli’s challenges continued to perplex the consultant. There were countless bloods and reviews, with each appearing to draw a blank.
At 6 months of age, she had a bronchoscopy, lung biopsy and lavage, which resulted in an unanticipated ICU stay. Once they extubated Charli, she appeared to be the best she had been in months. I recall joking with the doctors that either the high dose of steroids were doing wonders for her or they must’ve washed out the issue.
Despite having agreed to send some of the lung tissue to a specialist ChILD lab in Texas, the pathology team had stained all of the available samples and we faced the first of many “we’ve got this handled here…we don’t need to consult elsewhere” battles with the medical team. The samples showed clear pathology, though nothing pathognomonic that would give the them an answer. So the diagnostic uncertainty and search continued. As a ‘holding diagnosis’, she was labelled with Idiopathic Childhood Interstitial Lung Disease (ChILD) . Despite not having clarity on diagnosis, the Doctor confidently asserted that she would “grow out of” this and would “most likely be off oxygen by 12 months”.
Throughout this time, I often raised that I felt there was more going on than in her lungs, and that given aspects of our family medical history, I was concerned that there was an autoimmune process at play. This was fiercely dismissed by the consultant for over 12months. This forced my advocacy to grow louder and more insistent.
Despite the acknowledgement of the now broader multi-disciplinary team (including rheumatology at that point), and that there was a recognition that an immune process was underpinning Charli’s condition, the diagnosis still remained elusive. It took several more years and many more dead ends before the diagnosis was confirmed. This was through one of our many doctors undertaking an autoinflammatory gene panel after hearing about a similar young patient on the other side of Australia.
When our medical team received the result, the overseeing consultant was on leave so another Doctor forwarded me the genetic panel findings. So I googled (well google scholar). What I read was overwhelming, complex, and confronting. It was news I did not want to hear.
How did you feel when you received the diagnosis?
With the unsupported process of reading the papers at the time (circa 2018), I felt beyond broken. The articles I had access to were relatively old science, and presented a devastating prognosis in raw, unemotional, scientific jargon. It was too much and I can now see was an avoidable trauma had the disclosure, and discussion had been handled with more foresight.
Was there anyone or anything that made that time a little easier?
After sitting with the despair that came from my deep dive into the literature, we finally had the chance to sit with the three consultants weeks later to discuss. By this stage, they’d had the chance to consult with leading researchers and clinicians around the globe. To our great relief, this presented a different story to what I had faced in the scientific literature; one of rapidly evolving complex science and medical advancement, and ultimately one of hope. I could breathe. There was a plan! Amazing minds were involved and we had the support from hospital executives to progress what sounded to be a promising novel treatment.
Life Since the Diagnosis:
Life with a rare condition can bring unexpected strength, perspective, and community. Feel free to share both the tough and the uplifting parts – both matter.
How has life changed since finding out about the diagnosis?
- What have been some of the challenges?
I often reflect on the small moments of grief that catch me off guard at times. The everyday things that normally go unnoticed in families who have the privilege of not living with complex medical conditions. Attending kids birthday parties in the early days was one of the hardest times – the unavoidable standing out, the constant questions (out of love and curiosity), the fear of infection and what that could mean for our little human, and the pit of the stomach feeling that accompanied the palpable pity from parents of healthy kids.
The other huge challenge was navigating school. This system was fundamentally ill- equipped for kids who don’t fit inside the ‘typical box’. While we have had some incredibly positive experiences in schooling, there’s also been some horrific ones involving extreme negligence and reckless child endangerment. This resulted in formal disciplinary action on a senior staff member).
- What have been the bright spots or moments of joy?
I feel so strongly that this journey has given me a tough, but powerful reminder of the beauty and magic of the present. I learned to slow down and celebrate the little things that I know I would have missed before in the hectic pace that was our normal. I also found a strength and power in me that I never could have imagined. I can confidently say, as a lioness medical mumma, there is not much you could throw at me that would knock me out of play now. I also see this in Charli – she has the most incredible, skilful and hilarious way of advocating for herself that is well and truly beyond her years. Handled well, pain and fear can promote immeasurable growth and strength. Charli is an absolute testament to that. That brings us great pride and joy.
- How has this experience shaped your outlook or your family life?
- looking back, what strengths or qualities have you or your family discovered or developed through this experience that you might not have recognised otherwise? Or – In what way has this experience highlighted strengths in yourself, your child, your family?
- What small moments or everyday things do you notice or appreciate more deeply now?
For our family, it has shaped us with an absolute, unforgiving force! But we have also learned to ride that force and find creative, novel ways to do what matters to us. Camping with a child on oxygen? Sure thing, we’ve got this! Rock climbing? Why not? While there have been changes to the life we had expected, it has become about finding ways to make things happen. As my gorgeous Pop used to say “where there is a will, there is a way”. Having to let go of overseas trips, and being stricter with friends and family about sickness has sometimes hampered the vision for our family life but we’ve reinvested in other areas to make up for what we often missed.
Within the struggle, extraordinary strength emerges. I have seen it in our daughter, in myself, our family, and in other families walking this path. We adapt, advocate, and love with a fierceness we never knew possible. We learn to find joy in the smallest moments – a deep breath, a giggle, a day without hospital visits. In the stuff that is so often taken for granted when health is kind. We celebrate the ordinary as the remarkable.
4. Finding Support and Community: Having a rare condition can feel isolating. It’s powerful to show how connection makes a difference. Sharing where you found understanding helps others know they’re not alone.
How did you connect with FORGE, and what has it meant to you?
- Have you met others through FORGE or elsewhere who understand your experience?
What was this like?
- Are there moments or people who have helped you feel supported?
As a health professional, I thought I understood resilience. But when your child becomes the patient, everything changes. We didn’t fit anywhere — no longer one of the medical team, yet different from other parents who had answers, a clear pathway and shared experiences. The isolation was vast._ as per comments on other sheet
Then suddenly, connection changed everything. It was meeting professor Adam Jaffe that led to us meeting some of the other ILD families, via an online group, Instantly, we found our people – our tribe. This small group and sense of shared understanding immediately inoculated the isolation. However, there were initially no other SAVI families within that group, which is why meeting the FORGE family has been a lifeline.
Meeting Jon, Sinead, Charlie and Rosie in particular has been nothing short of life changing There is a powerful invisible thread with shared experiences. Even with long physical distances, knowing you are not alone anymore (as we were for so many years), and having others who are equally as passionate, determined, driven and committed to changing the paths of future SAVI families is contagious.
5. Looking Ahead: This is where your strength shines – focusing on what’s possible, the progress being made, and the love that keeps you moving forward.
What does the future look like for you and your family?
- What gives you hope right now?
- What are your dreams for the future?
- What would you like others to understand about rare conditions?
- What do you want/need from FORGE
We have just experienced unexpected set-back, which was a reminder of how important support, advocacy, and progress in science are. Fortunately, with the network of families, clinicians and researchers Forge has been instrumental in connecting, alongside our dedicated team, treatment was swiftly pivoted and optimised, and things are again looking good. During the initial upheaval of re-admission, having the close, supportive ear of the Forge families was incredible. I often reflect on how different our first admissions were. Those isolating and big moments in our diagnostic and treatment journey would have been so much better, had we not felt so completely and utterly alone. I also wonder how much more effectively I might have advocated—ensuring my voice was heard—and what progress might have followed had the medical team truly heard it at the time
Our dream for the future would be that no family living with a rare childhood condition feels alone. That parents, and SAVI kids themselves, are listened to as an integral part of the diagnostic/therapeutic process. I wish for continual breakthroughs in science that effectively treat the pathology. My wish for Charli is that she continues to know what she wants and how she wants it, and that she doesn’t lose her incredible gift of being able to negotiate life (and doctors) with humour and intellect. I would also love to see science find ways to undo the damage caused to her body through all those years not being heard. I believe it is possible and know Forge will do what it can to support these wishes.
I would also love to see coordinated support, from mental health to practical care. Navigating everything alone deepens the strain on families already living in survival mode. This is why collective voice matters so much.
I would love to see more equitable supports, funding, and awareness for rare.
6. Message to Others: Sometimes the simplest words can mean the most.
If someone has just received a similar diagnosis, what would you want them to know?
Over time, life will illuminate beauty in unexpected places — in a deep breath, a small smile, or a moment of stillness between medical chaos. You will discover strength in yourself and your family that you never knew existed. You will learn you can bend, and you won’t break.
While this takes shape, when in doubt, return to the smallest simplest acts in life. Healing often begins there.
You are not alone. Wherever you are on this road, know that there is a village of parents walking beside you. Together, we are quietly, powerfully, here forging hope.