My name is Dominic Walsh, my son is Cian Gollner, and I’d like to tell you his story.
Cian is six. He’s a charismatic kid; full of energy and particularly intelligent. He’s also as tough as nails. That’s why, when he told his mum his leg hurt, she took it seriously. She asked what had happened and where it hurt, and she had a look at his feet. Which didn’t look quite the same colour. They didn’t feel the same temperature, either. A pale, cool left foot and a pain high up in his thigh. She called me to see if she was overreacting, and in a minute we had her heading for the ER. We’re not doctors, but we know the dangers of an embolism.
That’s a pretty unexpected way to end a Monday. That was nothing. A quick listen through the stethoscope, and the good people at Orange Health Service were suddenly very interested in what was going on with his heart. They suspected an infection of the aortic valve and a resultant loose piece of matter thrown to his leg. They also realised the risk of further matter being thrown into his arterial system, and the danger of it lodging somewhere far worse than his leg. By Tuesday morning they were conferring with the cardiac team at Westmead Children’s Hospital, and a helicopter was arranged. He was flown down by the wonderfull people of Careflight, given an ECG, and prepped for surgery. We were on the road behind him. Anaesthetic was administered at 11.45 on Tuesday night.
The cardiac team were first. They opened his ribcage and went on the hunt for what had compromised his aortic valve. They removed it, and went on to perform what’s called a Ross procedure. They took his pulmonary valve and used it to replace his aortic valve. Then, they used a cow’s artery formed into valve to replace his pulmonary valve. They also discovered that his left cardiac artery had been rendered useless. It wasn’t functioning at all. Amazingly, his heart had grown compensatory circulation from his right cardiac artery, and the perfusion of his heart was good. Next was the vascular team. They performed an embolectomy at his upper thigh, and then, because his circulation had been compromised for so long, they performed a fasciotomy on his lower leg. The operation was complete at 9.18 on Wednesday morning. He’d spent hours on bypass, his heart not beating. The idea of that haunts me.
Our kid had been swimming the length of a pool and running in a school sports carnival just days before. Now he was in intensive care. This had been a parents’ nightmare and the repeated shocks were wearing us down. His life had been in the balance, and we were so happy the many coin-tosses had gone his way. That’s when we found out that the aorta hadn’t been compromised by infection, but by a tumour. It was with pathology and we’d have to wait till they could identify what it was before we knew if it was malignant. So, wait we did. On the Friday, oncology told they weren’t completely clear on what it was, but that it some variety of sarcoma. By the next Monday, just a week after Cian had declared a sore leg, we were told it was a malignant myxofibrosarcoma. We were also told that the margins that the surgeon was able to take around the tumour were not clear of cancer cells. There was no tumour left in there, but the cancer wasn’t gone. And no further surgery was possible.
I’m a science enthusiast, but I really didn’t know much about oncology. Certainly, I didn’t know as much as I do now. At this point I thought this was shocking and strange, and didn’t know the half of it. Dr Geoffrey McCowage sat us down and patiently explained that this cancer occurred pretty much exclusively in the extremities of senior citizens. It was totally unprecedented for it to occur, not in one of greatly advanced years with decades in which repeated mutations might compound, but in a six year old, and in his thorax, at that, where it never happens. This is typical of Cian. “Unprecedented? Unique? Considered impossible? Count me in!”
Dr McCowage also patiently explained that it was known to be unresponsive to chemotherapy. Where it couldn’t be effectively removed with surgery, the best treatment was radiotherapy. He then had his colleague, an Oncology Radiotherapist, explain that 50 rads of EMR are required to treat myxofibrosarcomas, and that more than 30 rads would wreck a heart. We asked about immunotherapy, not really knowing what that was, and asked if there was any other magic bullet. We asked, grasping and hoping. He explained, patiently, as our reality settled on us.
I’ve never felt like that. I honestly don’t think I can convey it to people who haven’t. I’ve been through rough stuff. I watched my mum die from pancreatic cancer. It’s not the same, when it’s your kid. I could try to tell you how I felt weak; physically weak, or talk about the rage I couldn’t put my mouth around, because the horrible, honest betrayal of resignation won’t let me. I could try to tell you the depth of the pain. And I’m sitting there, trying to maintain a facade of civility while a cascade of memories, images, conversations, hugs, cheeky grins and loving words storm over me, threatening to leave me forever; to leave me and perhaps take any heart I’ve left with them. At this point I’m certain I can’t do this. I only know I have to.
Dr McCowage did say he’d send samples of the tumour off for genetic analysis, though we shouldn’t expect anything. The odds were long. Cian needed time to recover from his surgeries, and the occurrence was so unusual, and the options for treatment so lean, he suggested we should take a watch and see strategy. In the mean time, the cardiologists were becoming anxious. Waiting was not their thing. It’s really not how cardiologists do it. See a problem, grab a scalpel. They’d invested quite a bit of effort in this powerful little heart. Dr McCowage mooted the idea, should there be no outlier result from testing, of Cian speculatively go on the VAC protocol, in case that might, against all expectation, have an effect. As dire as the situation was, I was not at all keen. Life is for living, and subjecting someone, anyone, let alone this boy I love so much, to a tough protocol without a confidence that it would make a life for them, was not for me. And yet I didn’t know if I’d say yes or no. It’s a horrific choice to be presented with.
And this is where you (The Leila Rose Foundation) came in.
Well, you’d already acted. Geoff had told me that he’d asked you (The Leila Rose Foundation) to sponsor the analysis, but I was in my own world. In the meantime, Cian’s DNA, along with his cancer’s rogue version, were being teased apart in Cambridge, Massachusetts, and at some expense, I understand.
Miraculously, there’d been a hit.
There’s plenty yet to learn about our genomes, but we know about the PDGFRA gene. We haven’t known for terribly long, but we do know. We know what it does, and we know where on the chromosomal map it ought be. And in Cian’s beloved heart, it wasn’t there. It had slipped across chromosomes, and was, presumably, doing something it oughtn’t. And given the GFR in PDGFRA stands for Growth Factor Receptor, this looked like the prime suspect. Further examination of the tumour showed vastly elevated levels of PDGRFA proteins. Smoking gun.
This might all be no more than academically interesting, but there’ve been other offences pinned on meandering PDGFRA genes. Philadelphia translocation is a relatively prevalent one. And so research in modifying and suppressing the behaviour of the Platelet Derived Growth Factor Receptor has been done and resulted in some pharmacology that can act to influence that. And one of those, Sorafenib, looks likely to help with, perhaps stop Cian’s cancer.
So now, my beautiful six year old boy runs to my bedside at 5.30 or 6.00 in the morning, and asks for his Sorafenib. He’s pretty keen on breakfast, and also second breakfast, and also third breakfast, and he knows he can’t tee all that up until half an hour after medication. I’m not a morning person, he got that from his mother. But I wake with absolute joy to hear my boy ask for what gives him a chance of living what I have no doubt will be an extraordinary life. For months I lived without hope, and it felt like death. Now he’s a chance to live, and it gives us a chance to live too.
So, this letter is to say thank you. I want to say it so you can understand what I mean, but again I fear I can’t convey it unless you’ve felt something I wish you hadn’t; knew something I wish you didn’t. The tests you invested in Cian might have come to nothing, but they didn’t. This is unprecedented stuff, so for all we know, the treatment may yet not. But he has a chance, and he wouldn’t without you. I wake up with his smiling face in mine, asking for what I desperately hope means he outlives me, and I get to be alive for another day. I get to take him to school and have hope. I get to take him to gymnastics and have hope. Last night he read to the end of chapter six of The Philosopher’s Stone to me. Joy. Love. And hope.
For all this, I thank you.