Article type:
Story
Estimated read time:
15 mins min read
Published:
15/04/2026
About You / Your Family
My family is like your family. We live in Melbourne and have a house which is often upside down, decorated with collections of fine works of (children’s) art and furniture which doubles as building blocks for hideouts and obstacle courses. We have a one-year-old groodle called Goose (full name Goose Stardust Woody Avocado Walker-Hyer) and return home daily to discover what treats he has managed to hunt down and chew. He has a penchant for Lego. I entertain the thought that one day our house will be tidy, and I will miss the mess, but I honestly don’t think I will. Life is generally chaotic, juggling work and a full timetable of kids’ activities, but we do have the occasional lazy morning making pancakes. I love my children completely. Like many parents of children with rare diseases, I am deeply grateful for the privilege and miracle that they are both still in my life. I do my best to appreciate the small things and try not to get upset when we’re late for school and both kids are performing acrobatics on the sofa in their pyjamas while breakfast remains uneaten on the bench.
Charlie (Charles) is a beautiful old soul. A quiet thinker. He is smart, thoughtful, goofy and loving. He and Goose are partners in crime, and he has a genuine affinity for animals. He is lucky to have a beautiful bunch of friends whom he loves dearly, sharing adventures through basketball, cricket and Australian rules football. I am so grateful for this, but loathe the constant requests of, ‘Can I have a playdate?’ He plays rock music on his guitar (thanks to his guitar teacher, who seems to favour the classics) and violin (for how long, I am not sure). His favourite food is probably mac and cheese. He supports St Kilda in the Australian Football League, and England in soccer and cricket, which is generally a recipe for disappointment.
Rosie (Rose) is a force to be reckoned with. A beautiful, wild and creative force. She is fiercely independent and very specific about how to make her porridge in the morning. She is a kind and considerate friend and has the absolute best giggles. She needs an audience and loves a performance, whether it is dancing, singing or telling a story. She will be the first to pipe up for a toast or ask a waiter for dessert. She loves bugs and beetles and often has mud under her fingernails. She writes (or narrates) the funniest and most random stories, where friends fall down drains, people fall asleep forever or turn into mermaids. I wouldn’t be surprised if she is running the country in the future.
The Journey to Diagnosis
As many of you would appreciate, children change your life forever. Irrevocably. I don’t think I was ever going to be ‘ready’ for children, but I felt excited and scared when we realised we were pregnant with Charlie. I remember my wife saying at our 20-week anomaly scan, ‘Isn’t anomaly another name for abnormality?’ The sonographer had shifted from laughing and smiling to anxious concentration, and the room became heavy with concern.
We received the news that Charlie had transposition of the great arteries, a congenital heart condition, and discussions around termination began. How do you weigh up a life? Charlie had major cardiac surgery when only two weeks old. They cooled his little body to 25 degrees, stopped his heart and diverted his blood through a bypass machine. Surgery involved closing a hole between the large chambers (ventricles), cutting and switching the major arteries, moving the delicate coronary arteries, and then restarting a heart which had been without blood for 80 mins. A heart the size of a walnut. The enduring feeling from that time is one of amazement and gratitude. It took us eight weeks to leave hospital due to a sternal wound infection and intravenous antibiotics. Life was small and focused, protected by diligent nurses and doctors in intensive care. Looking back, there were signs that something else was going on: fever, a high respiratory rate and surgery triggering an inflammatory cascade.
The following five months were a whirlwind of questions and concerns, reassurance from the cardiac team and, finally, a referral to respiratory when Charlie’s oxygen saturations dropped to 58% overnight. His lungs were scarred. ‘The chance of having two separate rare diseases is so small that it is most likely the lungs were damaged after the infection, a battle fought and finished,’ the head of the respiratory department at Great Ormond Street told us. Charlie didn’t grow out of his night-time oxygen. But he was stable, so life carried on.
When Charlie was two years old, we found out number two was on the way. I wondered if it was possible to ever love another child as much as your first. Rosie was screened very closely given Charlie’s heart condition, but she was fine. She was a gorgeous, smiley, happy child who refused to sleep for more than a few hours at a time. At 10 months old, at the height of Covid in London, she became unwell. It persisted, and a mother’s instinct knew something wasn’t right, so I dropped Sinead and Rosie at the Emergency Department at St Mary’s Hospital in Paddington at 8pm.
At around 4am, a chest X-ray revealed that her little chest was dwarfed by a massive heart. It had failed. I remember the world collapsing. I called my mum to come over immediately and woke a neighbour to watch Charlie as I raced to the hospital. Covid rules allowed only one parent by the bedside, but the Emergency team knew this might be the last chance I got to see my daughter, so they made an exception.
Great Ormond Street had no beds. Royal Brompton, a specialist heart hospital, technically had no beds either. But, as we later learned, they bent the rules so they could save Rosie’s life. All 16 intensive care beds were occupied, but they discounted one occupied by a child who no longer needed respiratory support and accepted the transfer. They set up a bed for Rosie in a side room. They called it the ‘secret bed’. In an adjacent room, a special machine had been set up ready to take over the work of her heart if she went into cardiac arrest. Thankfully, we never needed it. We were told the rule of thirds: a third of children improve, a third stabilise with medication and a third need a heart transplant. Rosie was thought to be in the last group.
Genomic testing for known mutations associated with dilated cardiomyopathy didn’t provide an answer. Then I got a call from our geneticist. Testing had identified a rare mitochondrial mutation associated with a disease called MELAS (mitochondrial encephalopathy with lactic acidosis and stroke-like episodes). The proportion of abnormal mitochondria was relatively low in her blood but could be higher elsewhere in her body. Her future was very uncertain.
Our family moved to Melbourne for my work and Rosie’s care transferred to the Royal Children’s Hospital. Six months later, her heart was improving and the medicines started to be tapered. We went from fifteen medicines, which took us 45 minutes each day to prepare, down to zero over a few years. Rosie remains under follow-up but has made a remarkable recovery. Thankfully, she has not behaved like a child with a mitochondrial disease and remains a bit of a medical mystery (miracle).
While we were trying to understand what all of this meant for Rosie, another piece of the puzzle was quietly developing with Charlie. He had stopped growing and was struggling to keep weight on. A chance discussion with his cardiologists about having further children eventually led to a genetics referral. They felt it was worth testing Charlie too. In April 2023, five years and nine months after he was born, Charlie received his second rare disease diagnosis: STING-associated vasculopathy with onset in infancy (SAVI). A disease I had never heard of. A disease only described in 2014. I remember clearly the geneticist saying, ‘You will become an expert in this condition.’ It was not related to his congenital heart condition. It was not related to Rosie’s condition. Our family had been struck by lightning three times.
Life Since the Diagnosis
The period that followed was overwhelming. I cried more than I ever have in my life. I couldn’t shake the feeling that I was losing Charlie. Every moment of joy was tinged with a desperate grasping at the present. There was a vacuum of hope. All I wanted was life. For him to have a childhood. I wanted that myth of normal. As I spent time poring over research, the clouds gradually cleared. I realised there was hope, that there is always some hope. That was the seed from which FORGE would eventually grow.
Charlie started baricitinib, an immunosuppressant. That same evening he couldn’t weight-bear, and a scan showed a large hip effusion. There was concern about septic arthritis and, after a needle drew out thick pus, his hip was washed out in theatre. No bacteria ever grew and it was later recognised as inflammatory. He restarted the medication. It was the beginning of a new era for him. The difference was like night and day. His joint pains settled, his breathing improved and, most of all, he started growing again.
I turned to FORGE to help me cope. My wife said something at the time which has stayed with me. Charlie and Rosie were not going to be defined by a disease. We, as a family, were not going to be defined by a disease. Our job is to give our children a home full of love and the support they need to flourish, whatever that looks like within their physical limitations. I want them to be adventurous and excited by the future. I want them to push through the expectations placed on them because those expectations are wrong and limiting. I want them to have normal childhoods despite their diseases. There will be hospital appointments. Life will sometimes change because of medicines or because we need to carry oxygen onto a plane. But I don’t want their sense of being different to mean being lesser. We are all beautifully unique.
The resilience I have seen in our children is astounding. The same is true for all children. They want to live. Parents often bear the emotional trauma of a diagnosis, but children play with the cards they have been dealt. Of course, there are setbacks and all the usual trials and tribulations of being human. But despite rare disease taking so much, there is also a strange gift in being shaken to your foundations and having to rebuild.
I would never wish it on anyone. But if I were offered my time again without the desperate moments, without the times when your soul literally aches with grief at the loss of a future, I would also have to give up those moments of pure joy, the sense of purpose and responsibility, and the feeling of a heart full of love and knowing that I already have enough. With everything we have been through, I would do it all again in a heartbeat.
Finding Support and Community
A diagnosis is both a privilege and a curse in the rare disease community. Many families find genetic mutations on testing which are of unknown significance. Others have constellations of symptoms which don’t fall neatly into a ‘disease’. Some, like Charlie, have a diagnosis where treatment options are limited. Some have no treatment at all.
A diagnosis can be a new beginning. You search the medical literature, look up world experts and eventually find your tribe: other patients and families. That community can be an extraordinary source of support, but it can also be incredibly confronting. You meet families at different stages of the disease and families who have lost loved ones. You read case reports which can leave you feeling anxious and hollow. I remember dwelling on a sentence in a paper which stated that patients with SAVI had ‘a high mortality within the first two decades of life’. Scientific literature is not written for parents or patients. Stark statistics don’t necessarily represent the child sitting in front of you. In this case, they also didn’t take account of newer treatments or earlier diagnosis. I had to remind myself that medicine marches forward.
As a doctor, I was fortunate to be able to reach out to my professional network. Through a friend of a friend at AstraZeneca, I was encouraged to contact Raphaela Goldbach-Mansky, a world expert in Bethesda, Maryland, who had led the original work describing SAVI. I arrived at our first immunology appointment armed with information. From there, one connection led to another: researchers, clinicians, biotech companies and, most importantly, other patient families across the world. We shared stories and knowledge, practical advice, new papers and thoughts about medicines. Our shared experiences made me feel less alone. But we needed to do more.
For the first time, technologies capable of targeting diseases like SAVI were becoming a reality. But who was going to catalyse that research for such a small community? How would families find clinical trials? Who would connect clinicians, researchers, biotech and patients? How could we make sure people were receiving the best care available now? Could existing medicines be repurposed while we searched for better treatments and, ultimately, a cure? FORGE grew out of those questions. It’s no secret that my FORGE was, in part, a way of learning to live with an uncertain future. But what our FORGE has become is so much more than that. It is a place of strength and hope. It is families who have become extensions of our own. Children and parents telling stories of adversity, loss and courage. Fierce and fragile. It is a shared belief that there is a pathway to a cure, and that together we can help draw the map through this inflammatory landscape. We will get there together, as a community.
Looking Ahead
Charlie was up one night crying because his elbow was really sore. He’d had a flare-up and had been struggling. Seeing him in pain was a reminder of why we started FORGE. It is surprisingly easy to forget that underneath all the administration and strategy, the website copy, end-of-year accounts and policy documents, there are real people, mostly children, suffering. And through what we do, we have a very real opportunity to relieve some of that suffering. I learned from my time working in a hospice that suffering can be physical, emotional and spiritual.
Through research, we hope to achieve better disease control and reduce or prevent flares. In the longer term, we want to reduce disability and the consequences of chronic disease. Through advocacy and patient support, we want to relieve some of the emotional suffering too: bringing people together, restoring hope and reminding families living with rare diseases that they have not been forgotten.
I remember sitting on the floor in Charlie’s room once he had fallen asleep and thinking that if we can improve just one child’s life, everything will have been worthwhile. If we can prevent just one flare or admission to hospital, we have won. If we can help just one parent look at their child and imagine a future without the burden of this disease, then we can know that we have, in no small way, saved a world. This is what I want from FORGE, and this is what I want for Charlie and Rosie. I want a life full of meaning, health and happiness. I will do everything within my power to help realise that dream. That is my promise to them. And there is real hope.
FORGE is working alongside researchers, clinicians, biotech and families to turn extraordinary advances in medicine into meaningful progress for people living with rare autoinflammatory diseases. And we intend to bring every patient with us.
Message to Others
You are stronger than you believe you can be. Your children are stronger than you believe they can be. I know how frightening it is to look into the future and see only uncertainty. I also know now that uncertainty leaves room for hope. Medicine is moving at an extraordinary pace. New genetic and immune therapies are changing what is possible for children with rare diseases. There are brilliant people working on problems that, not very long ago, seemed impossible to solve. But you don’t have to carry the uncertainty alone. Talk to friends and family. Talk to other rare disease families. Be open and honest. Find your people.
We will be with you. There is hope. And now, there is a plan.
