When Jenaya walked into the obstetrician’s office to chat about her birth plan, she didn’t know she’d taken the first step towards the darkest days of her life. But, throughout her journey, she would find the type of faith, endurance, and tenacity that only the most unimaginable hardships can lead to.
The runaround: we took matters into our own hands
That visit to the Maternal Fetal Medicine clinic was the first time the word “sarcoma” was mentioned to Jenaya and her husband, Joshua. A scan she’d had a few days earlier showed an anomaly on her son Toby’s arm. Her doctor said although he hadn’t seen anything like Toby’s arm, throughout his 20-year career, the anomaly was likely a vascular birthmark. While he assured Jenaya a cancer diagnosis was rare, the doctor cautioned “we do have to say it”.
Two months later, her son Toby was born with significant abnormalities covering his left arm and shoulder. Despite having a category one referral, Toby was discharged as an outpatient with a telehealth checkup scheduled two months later.
“At this stage I was this anxious first-time mum. I thought I was worrying too much – that I needed to trust the system,” Jenaya says.
Two months was too long for the new mum to wait.
Her mother had found an American organization called the Vascular Birthmark Foundation (VBF). They emailed photos of Toby’s arm and shoulder, along with a summary of the scans that had been done and his initial diagnosis.
“We got an email back saying, ‘This is not a birthmark, this baby needs urgent testing,” Jenaya says.
After two unsuccessful visits to GPs, an emergency department visit where her son’s condition was labelled “not a medical emergency”, and unsuccessful phone calls to the hospital where she had given birth, Jenaya finally got in touch with a doctor interstate who understood the severity of Toby’s condition.
The VBF gave her the name of an interventional radiologist in The Children’s Hospital at Westmead who, despite not having a referral, agreed to look at the photographs. Within days of hitting send, Jenaya got a call from a private number.
“He said, ‘This baby needs to be tested immediately. Come straight to the emergency department for admission and we will do a biopsy and a develop a treatment plan.’”
Even though she was still recovering from her C-section, Jenaya used her Flybuys points to immediately buy a plane ticket to Sydney.
“I was so nervous. I was second guessing myself, which is really sad. I have learnt to become a lot more assertive. Nobody else is going to advocate for him, he can’t do it for himself yet. His life is in our hands.”
At the hospital, Jenaya prepared Toby for the biopsy she hoped would finally give her answers.
“Let me tell you, fasting a three-week-old who is exclusively breast fed for seven hours was really difficult. He didn’t understand why he couldn’t feed and he could smell the milk on me as I held him. He cried continuously, then fell asleep from exhaustion.”
“It was really hard. My new baby is crying not knowing what is going on. I don’t know what is going on. We are over 1,000km from home in the middle of a pandemic, trying to get answers.”
The diagnosis: the beautiful room for bad news
That afternoon, the medical team found Jenaya, and her husband Joshua who had driven to Sydney to be with her and Toby, in the ward.
“They said ‘Hey let’s go have a chat, leave Toby with the nurses’ and he took us to another room.
“I thought ‘Wow this is a really beautiful room, this is the type of room where you’d go to give bad news. I didn’t realise we were those people who would have the bad news broken to them. I still thought it was going to be a form of a vascular anomaly.” Jenaya says.
“We sat down, and the doctor started by saying Toby had gotten through the procedure well. Then he said, ‘I’m sorry, it is malignant spindle cell neoplasm. We think it is something called infantile fibrosarcoma. The oncology department will be in to speak to you.’”
“I went very still and just sort of stared at the doctor. I didn’t fall to the ground, scream or break down. I just went very still; my eyes just welled a bit and a single tear or two fell down my face.”
Toby was only three weeks old.
The treatment: there’s no time to wait
After Toby’s diagnosis, the plan was to get scans to see if the cancer had spread to other parts of his small body, then the family would head back to Queensland for treatment.
But just hours after they were discharged, Toby’s arm started oozing. They returned to the hospital where the oncologist told Jenaya the infection was a sign the cancer was progressing, and they needed to start treatment right away.
The next day he had his first PET scan, then went into surgery to get his central line inserted – a semi-permanent IV inserted into his chest that could be used to give medications (like chemotherapy), antibiotics, nutrition, fluids, and to take blood tests quickly and easily.
“He didn’t have a bath for his first year of life because he couldn’t get the central line, or the dressing, wet, so we sponge bathed him on the kitchen bench,” Jenaya says, remembering that time in her life.
Not only was Toby’s cancer incredibly rare, but he also had a very unusual genetic change that caused the tumours to grow, which was different to most other cases of infantile fibrosarcoma. This meant he couldn’t access a targeted therapy had been developed. Because he had a different genetic mutation, he had to go through chemotherapy.
A week later, Toby flew back to Brisbane to continue treatment.
But it didn’t work.
“The cancer was growing; we could see it getting bigger every week. It was the size of an adult fist on the back of a three-month old’s shoulder. That was quite scary to see. The skin around the tumour was so tight you could see the veins. He couldn’t lie on his back without being tilted to one side.”
The impossible choice: keeping the cancer in our baby
At 3 months old, the scans confirmed what Jenaya already knew: The tumour had grown, exponentially.
The medical team told Jenaya and Josh they had two options, but no right answer.
Option one was to start Toby on stronger chemo, with no guarantee it would work or that his cancer wouldn’t spread through his body.
Option two was to amputate Toby’s entire arm and shoulder.
“It was really hard; it was a lot of weight and responsibility. The oncologists said if they had to give an answer, they would lean towards more chemotherapy, but because the situation was unprecedented, the medical teams would support whatever choice we, as his parents, made.”
At first, Jenaya and Josh chose the amputation. Toby was booked in, they went through the consultations, speaking with the surgeons for hours on end about the procedure while their oncologist spent late nights researching possible outcomes.
Then they discovered the risk of the cancer coming back at the site of the amputation was greater than the risk of it spreading during chemo. Plus, if it came back, there wouldn’t be much more they could surgically remove from Toby’s body.
“We had to make the decision to keep the cancer in our baby so we could know whether the treatment was working. That was my first Mother’s Day.”
The brink: there’s no baby-strength chemo
Jenaya and Josh cancelled the surgery, and Toby immediately began more intensive chemo.
The tumour stopped growing, but it wasn’t having the effect they hoped. When Toby reached six months of age, he was treated with even more aggressive chemotherapy, which was intended for adult use.
The short-term side effects baby Toby went through intensified. Hair loss, vomiting, febrile neutropenia, blood transfusions, platelet transfusions, skin infections, viruses. The long-term side effects, such as organ damage or heart failure, can take several years to manifest.
Hospital admissions were par for the course.
“We were often admitted for several days at a time, because the treatment was so intense his body started to shut down and he experienced bone marrow failure, which meant he needed to receive multiple life-saving blood and platelet transfusions.”
“Chemo takes you to the brink of death and I remember an oncologist telling us, ‘We give the child chemo, and we hope the cancer dies before the child does.’ Because it is so toxic.”
In total, Toby had chemo almost every week for 11 months.
“We got to the point where he’s had the maximum of chemo possible, any more chemo and the risks would outweigh the benefits – but the cancer was still very much there.”
While the surgeons said the cancer may have shrunk enough to be removed, Jenaya was apprehensive. She faced yet another impossible choice: Amputate and Toby would grow up and learn to live with a limb difference or proceed with a limb-salvage surgery and commit to a childhood marked by multiple surgeries, limited mobility, and scar tissue.
In the end, the choice was made for her. The salvage surgery was cancelled because tests indicated that the surgeons wouldn’t be able to get clear margins around the cancer in Toby’s arm.
“I’d been pretty numb the whole way through. I think that survival mode – it’s unfathomable really, you never expect to face those choices as a new parent. But you do what you have to, because it is your child’s life.”
The miracle
With amputation seemingly the last option left, Toby’s oncologist approached Jenaya and Joshua with a new, untested possibility.
Toby was nearly 12 months old, and his medical team had agreed to try an off-label use of another cancer drug as a last resort.
“She explained the drug theoretically inhibits the genetic fusion that is driving his cancer.”
It had not been used for this purpose, and it had not been used for babies, but Jenaya and Joshua agreed, it was worth a shot.
The pharmaceutical company approved the request to use the drug on compassionate grounds and sent it to the hospital.
For the next 9 months, Toby was given liquid medication daily through a nasogastric tube, which was inserted into his nose and down to his stomach.
It was not easy – his tube came out close to 40 times, either from vomiting, or he or someone else pulling it out. Every time that happened, he had to go back to hospital and Jenaya watched him scream and cry as he was held down to reinsert the tube.
But the medicine worked.
“The treatment has had, what many medical professionals are describing as, a miraculous effect. It has shrunk the tumour to a mere few centimetres.”
“The targeted therapy gave us our life back. On chemo we were in hospital every week, Toby had next to no immune system, he couldn’t go back into the community, it was dangerous if caught a simple cold. This new form of precision medicine meant we could live at home most of the time, his hair grew back, and he could even begin going to daycare.”
Toby’s central lines have been removed, and at 1 year old, he finally had his first real bath – he loves the water!
His next step is scans, and surgery to remove the remaining tumour from his shoulder.
“He’ll be keeping his arm, keeping his shoulder. They have to take some muscle, but they think he’ll be able to compensate for the loss of that muscle. It is unlikely his left arm will ever look similar to his right, there will always be evidence of the disease and how the arm formed in utero around the tumours.”
The end of the beginning: where there’s life, there’s joy
Toby’s team can’t say for sure if there is any active cancer still in his arm, so Jenaya and her family will just have to wait and see whether anything will grow back after stopping treatment.
“A lot of people think cancer stops when treatment is over, or their hair has grown back. Our kids get follow up for years. They are at risk of heart failure, medical trauma, secondary cancers… the fear is always there. Every bruise, every small symptom makes you wonder if it is back.”
“I have learned to be present to live in the moment and to embrace joy in every space. I have not been so present in all my life than I am now. Today is really all that we have.”
In the face of immeasurable uncertainty, Jenaya says her faith and the support of her community have made her a stronger, more empathetic person.
“I’m grateful for the people who have just appeared, offered meals, sent messages of encouragement, helped financially.”
“We haven’t really asked ‘why me’ it’s like, well ‘why not’? There’s nothing we did or could have done to cause or prevent this. This is simply one of those things that just happen.
“I hope our story can show that even in the darkest most horrific circumstances where there’s life, there’s joy – even when it looks different to what we first imagined.”
“There are too many children we have met along the way who haven’t had a long life because of cancer and the toxic treatments used to fight it. We need better, safer options for our kids and that can only come through research. Just because a life is little, doesn’t mean it’s not worth fighting for. Our kids deserve the opportunity to live.”