Walking through the gate of her son’s eastern suburbs primary school, Marcela Carvajal-Bogaz waves at the small boy playing on the basketball courts. He doesn’t wave back.
“Did you see, he looked at me and pretends I am not here,” she laughs.
But Martin, a seven-year-old with a love of jiu-jitsu and Star Wars, is soon smiling and runs over to hug his mother. They head back to their apartment before Martin begins his homework and Marcela cooks dinner. Felipe, Martin’s father, will be home from work soon.
From the outside they’re a perfectly normal family. Their journey however, has been anything but.
Eighteen weeks into Marcela’s pregnancy, while attending a routine scan, something strange appeared on her ultrasound. A rhabdomyoma, a benign heart tumour, had developed.
This fact alone was terrifying for the young family, but the news that came next was worse.
A rhabdomyoma is the hallmark of Tuberous Sclerosis Complex (TSC), a disease that is caused by the random mutation of the genes that control cell growth in the body.
Called into hospital fortnightly for checks for the duration of her pregnancy, Marcela didn’t know what to think: “I couldn’t believe this was happening to me, you dream about the perfect pregnancy, but it wasn’t happening for me.”
When she eventually went into labour at Westmead Children’s Hospital, she was surrounded by specialists who whisked Martin away for tests the moment he was born. It was hours before the new parents were able to spend time with their son.
“He was covered in cables, but I could finally hold him. I felt so at peace, and he was at peace too. It was magical, I knew everything was going to be OK,” she says.
The feeling of peace did not last long however. Now out of the womb, doctors confirmed Martin had TSC, a fact that terrified Marcela.
“The only thing that could come out was tears,” she says. “I had hoped that they were wrong.”
Further testing found tumours in Martin’s brain, and the pair remained at the hospital for two weeks. Once dismissed, two years of fortnightly hospital visits began.
At three months Martin began having seizures and the full reality kicked in for the young couple.
“It was normal, they would check Martin, do their scans, that was our reality, that was our life,” Marcella says.
“I remember having a shower and screaming, I couldn’t believe what was happening. How was he ever going to be independent? If I die, how is he going to survive in this world?”
The cruel reality of TSC is it often appears in families that have never even heard of the disease.
Dr John Lawson, a paediatric neurologist at Sydney Children’s Hospital is the foremost expert on TSC in Australia. He says 80 per cent of cases are what’s called sporadic – “meaning no family history at all”.
With only around one in 10,000 babies born with TSC each year, and most into families with no genetic history of disease, awareness is a key issue.
“The general perception of the disease has always been that it has a terrible outcome… intellectual disability, autism, disfiguring rashes on your face, and seizures,” Dr Lawson says. “That’s true for a proportion, but some are very mild.”
Tuberous Sclerosis Australia (TSA), a non-profit organisation, supports and educate those diagnosed with TSC. Its website, chief executive Jackie Gambrell says, is the landing page for most individuals that find themselves grappling with TSC for the first time.
She says a feeling of profound confusion is not uncommon for those living with TSC, and their families, a sensation TSA describes as ‘freefall’, an unprepared dive into the unknown.
We can’t stop people being in freefall because it’s a really shocking thing.
This experience prompted the creation of ‘Parachute Packs’, information booklets distributed to families with new diagnoses to comfort and explain. They tell the stories of families who have navigated their own journeys with the disease, but a delicate balance, in the early stages of understanding diagnosis, between comfort and awareness, is required.
“We can’t stop people being in freefall because it’s a really shocking thing,” Gambrell says. “[The packs] offer a lot of practical information, a lot of emotional support and reassurance at that really critical time.
“They give the headline information, they try not to go into too much detail, they try to reassure rather than go into possibilities.”
The peculiar nature of TSC is in its range. Children can be born severely affected, whether it be through physical or intellectual illness, while others live their entire lives unaware of their own disease. According to Gambrell, this broad spectrum of disease, for many parents of young children, provides little comfort.
“Even if your child is progressing in a certain direction, you don’t know that’s going to continue,” she says. “You don’t know if any other symptoms are going to present. You don’t know if suddenly that child is going to develop severe epilepsy… the uncertainty is actually really crippling.”
To manage the emotional experience of the disease, and offer planning for future outcomes, TSA provides an in-house telehealth service. Through a federally funded grant, as part of the Patient Pathways program, a nurse can speak to patients and carers about their healthcare options.
Being a rare condition, TSC care is often fragmented, and navigating the health system is complex.
Katrina Watt serves as TSA’s telehealth nurse, working for a few hours a week with those in need of support.
‘Telehealth is absolutely crucial in supporting families with TSC,” she says. “Being a rare condition, TSC care is often fragmented, and navigating the health system is complex especially if you have a rare condition or are caring for someone who does.
“The support of a healthcare practitioner, especially in the acute phase of navigating a new diagnosis is invaluable.”
Watt’s work with TSA often deals with caretakers, and their difficulties in understanding and managing their child’s TSC.
“Many parents report feeling anxious about their child’s prognosis, and they express concern and fear about the developmental impact of TSC, especially if the child is having epilepsy or seizures that are difficult to control,” she adds.
Care for those living with TSC is highly structured. Regular scanning and MRI’s throughout patients’ entire lives are standard, especially for those with brain tumours.
In 10-15 per cent of individuals with TSC, brain tumours might develop into subependymal giant cell astrocytoma (SEGA’s), an advanced stage of tumour growth, which can cause serious health consequences. Changes to modes of care, access to facilities, or healthcare providers can be incredibly detrimental to patient health.
During 2020, the COVID-19 pandemic stopped Martin and his parents from accessing routine scans. In 2021, when operations were resumed, an MRI showed that one of the tumours in Martin’s brain had developed into a SEGA. He would have to undergo emergency surgery to have it removed.
Dr Lawson described the situation as “really unlucky”.
“If he had presented earlier, it would have made a big difference,” he adds.
Medication can be provided as an early intervention when tumours are seen to be growing. However, it was too late. The tumour had grown, unchecked, to cover a quarter of Martin’s brain. A four-hour surgery successfully removed the mass, and Martin was placed on medication to slow the growth of his tumours, a medication he will take for the rest of his life.
Martin’s health has improved since his surgery, with his next MRI scheduled for early 2023, and Marcela believes her son can grow and become independent but remains anxious for his future.
“Everyone has a time, everyone has a purpose,” she says. “The only thing I want for Martin is to live a normal life.”
Martin’s dad, Felipe Sanhueza, is concerned his son may not have as many opportunities in life and also that he may pass on TSC to his own children some day.
“We’ve been very lucky, but it might not be the same case for him if he has a child with this condition,” he says. “For sure there might be opportunities for them, alternative opportunities… but yeah that frustrates me a little bit.”
Martin’s case is mild, and will likely become a smaller part of his life as he grows. However, for many, the progression means further challenges in managing their healthcare.
As children with TSC grow, they age out of access to multidisciplinary paediatric care centres, like the one based at the Sydney Children’s Hospital.
These centres offer the guidance of a variety of specialists like neurologists, geneticists and dermatologists that can treat young patients holistically. This transition, is something Watt says most parents find difficult.
“Individuals caring for someone with TSC will reach out during the transition from paediatric to adult care,” she says. “At this point there is a massive restructure of care delivery than can be difficult to navigate without assistance.”
Gambrell shares the same sentiment about the difficulty of transition periods for young TSC patients.
“People leave paediatric care and then it becomes really disjointed for many people,” she says. “They have to see multiple specialists, they are responsible for tracking their own surveillance and screening, and that’s really difficult.”
While breakthroughs and cures may come one day, Gambrell hopes for functional change in the near future: “Moving the road blocks around the country to try and get really good multidisciplinary care for both adults and children across Australia would just be amazing.”
Main photo by Nick Newling.