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TANIA CONNOLLY

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Nine-year-old boy Scott Gerini has raised more than $75,000 for Telethon’s sick children over the years but now he faces his own very serious health struggles from what his family suspect is the highly contentious illness, ‘Lyme Disease’, which medics claim doesn’t exist in Australia 

In 2010, four-year-old Scott Guerini wanted to ‘help sick kids and babies’, so he decided to walk 24km, collecting donations for Perth’s Telethon along the way. “Scott’s Great Walk” became an annual event which has morphed into a 42.915km marathon, from his father’s Southern Cross wheat farm to the local sports oval.

Over the years, miners from Cliffs Natural Resources and junior footballers have joined Scott on parts of the walk, and in 2014, police escorted him with sirens and flashing lights for the last few kilometres. In five years, Scott has battled wind, rain and freezing temperatures to raise over $75,000.

Ironically, Scott is now one of those ‘sick kids’. In November 2013, his mother, Nicole, noticed Scott scratching the backs of his legs with his shoes while he stood in the bush in Kings Park. The following day he complained to her of tiredness and queasiness, but refused to miss school.

In five years, Scott has battled wind, rain and freezing temperatures to raise over $75,000.

When he arrived home he stripped off his uniform and curled up in bed – an unusual occurrence for Nicole’s “energiser bunny”. Although he experienced cold sweats, Nicole says his temperature and breathing were normal. When she couldn’t rouse him for dinner, she became concerned. The next morning she noticed a bulls-eye rash on Scott’s swollen legs. The local chemist admitted he had never seen anything like it but told Nicole it was probably an allergic reaction and prescribed antihistamine.

The rash disappeared in a matter of days but, according to Nicole, debilitating fatigue, daily headaches and agonising stomach pain continued to plague Scott. Other symptoms he has experienced and continues to experience, in varying degrees of severity and regularity, include loss of bladder control, 40 degree temperatures and hallucinations, dizziness, stinging eyes, a crawling sensation over and under his skin, an inability to focus, aggressive and erratic behavioural changes, tingling in limbs, numbness in fingers and hands, loss of motor skills, memory lapses, unconsciousness, tremors, nausea, anxiety and ‘popping’ in his brain. Scott also suffers from pains in his leg, chest, neck and upper spine.

Nicole says that in other countries Scott’s symptoms are enough for a clinical diagnosis but very few Australian GP’s will risk their reputation to diagnose Lyme Disease.

Within 16 months Scott underwent countless blood tests plus an MRI and EEG scan, and visited a range of specialists including a gastroenterologist, a neurologist, a paediatrician and finally a specialist of infectious diseases who, Nicole says, all concluded Scott was ill but were at a loss to explain why.

Nicole felt increasingly frustrated until early in 2015 when a friend suggested the possibility that Scott was suffering from Lyme Disease. Nicole admits never having heard of it, but her research uncovered a notable symptom – a bulls-eye rash. Armed with this information Nicole returned to the doctors but says, “Because we hadn’t travelled to the areas they believed was necessary to pick it up, they weren’t terribly concerned with the evidence that we presented to them, and the connection that it had to Lyme.”

A 1994 tick research study, ‘Lyme disease: a search for a causative agent in ticks in south-eastern Australia’, which failed to find conclusive evidence of the bacteria that causes true Lyme Disease, has resulted in the prevailing viewpoint that this disease does not exist in Australia. Nicole disagrees and laments, “As with many things, a lot of the time you don’t know about something until it affects you. This is very much the case for us. I didn’t realise how many people were affected. The difficulties that they face. It’s heartbreaking.”

As Scott’s health deteriorated, his absences from school increased, his school sports were cancelled and he lacked the energy to participate in swimming lessons with his classmates. Nicole finds the more he rests, the better his body seems to cope. She says hot showers and heat packs soothe his aches and pains, and excluding gluten, dairy and reducing his sugar intake, appears to ease his symptoms.

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Scott has yet to meet someone his own age who is experiencing similar health issues and even though he’s a fighter, Nicole admits that it’s starting to affect him emotionally. She is grateful for the monthly support group she and Scott attend. “It’s good to be around people who are supportive and will listen to you. They’re in the same position, so they’ve been through all the same things. They know exactly how you’re feeling.”

Waiting lists to see a certain GP who treats over 400 patients in Perth with Lyme-like symptoms, are months long.

Nicole says Scott has gone from a healthy child to one who never feels well and he doesn’t understand why no one seems willing to help him. This feeling propelled him to write a letter to then Prime Minister, Tony Abbott, stating, “It makes me feel worried and sad. I just want to feel better. Please, please, please help me and everyone else who is suffering the same way I am.”

In a media release dated 30th June 2015, the Lyme Disease Association of Australia (LDAA) were hoping that new research released on 25th June 2015 by Murdoch University in the journal, Parasites and Vectors, which they believe provides “scientific evidence that Lyme-like pathogens are present in Australia” will persuade the Australian Government to rethink their current stance.

Nicole says that in other countries Scott’s symptoms are enough for a clinical diagnosis but very few Australian GP’s will risk their reputation to diagnose Lyme Disease. She says waiting lists to see a certain GP who treats over 400 patients in Perth with Lyme-like symptoms, are months long. Scott finally secured an appointment in April 2015. It cost Nicole $3000 to send her son’s blood to Sydney and Germany for conclusive testing which detected rickettsia and bartonella with further tests pending. Nicole says, “It shouldn’t be this hard to get your child healthy.”

 

Last year’s Telethon walk was extremely difficult for Scott…“ It’s like glass is sticking through his feet or that he’s got rocks in his shoes, those kinds of sensations.”

She adds, “He’s got all this going on but he’s not letting it stop him. He’s still going to school, he’s still doing his walk, he is still contributing to society. It’s nothing to fear. People who have this [disease] are still people. They deserve better”. Last year’s Telethon walk was extremely difficult for Scott. Nicole says, “We had lots of rests, massages and shoe changes because of the pain. It’s like glass is sticking through his feet or that he’s got rocks in his shoes, those kinds of sensations.”

This year he has been named the Telethon Little Ambassador and, determined not to let anyone down, he completed the marathon in 11 hours and 32 minutes. Nicole says, “He found the recovery a lot harder than previous years. [He] couldn’t even get out of bed two days later to eat dinner. He was completely washed out.”

This year he has been named the Telethon Little Ambassador and, determined not to let anyone down, he completed the marathon in 11 hours and 32 minutes.

While Nicole discusses treatments, she is reluctant to pump Scott full of drugs while his body is already overloaded, possibly causing other problems down the track. Scott continues his fight against the bugs that have invaded his body with the courage and determination that propelled him to help other ill children.

Avoiding Tick Bites

  • Wear a hat, long sleeved shirts and long pants tucked into socks.
  • Spray Insecticide containing permethrin on clothing and shoes.
  • Apply Insect repellent containing DEET to bare skin (DEET is toxic to children).
  • Avoid brushing against long grass and shrubs.
  • Wear light coloured clothing to spot ticks.

Twenty-month-old Isabella Crosby acts like an average toddler; babbling constantly, moving around at lightning speed and keeping her mother busy with her demands. However, a large scar, which snakes across her distended abdomen and around her back, indicates her life has already been far from normal. A rare, life-threatening disease has ravaged her liver and a transplant may be her only chance for a future.

Isabella scoots across the timber floorboards on her bottom, pulls herself up by the edge of the coffee table and grins mischievously. Her 29 year old mother, Yani, watches intently. Her eyes are full of love but a sadness lurks in their depths.

Yani yearned to be a mother but thought falling pregnant would prove extremely difficult, if not impossible, due to polycystic ovary syndrome. She buried hopes of ever holding her own child, until she conceived “a very amazing mistake”.

She tells me how her dream pregnancy turned nightmarish. From 14 weeks she battled constant nausea; at 16 weeks her blood pressure began to climb; and by 18 weeks she weighed an extra 20kg. Diagnosed with pre-eclampsia, her blood pressure soared and dipped, causing her to faint several times. This resulted in regular hospital stays, increasing in length when her baby appeared to cease growing. Yani’s placenta also began to rupture so at 27 weeks, her baby girl was born via emergency caesarean. On 21st March 2015, 13 weeks premature, Isabella weighed just 750g.

13 weeks premature, Isabella weighed just 750g.

After her dramatic birth, a ‘very yellow’ Isabella spent 108 days in a Neo-natal Intensive Care Unit (NICU). Paediatric Gastroenterologist, Dr Madhur Ravikumara, who treated Isabella, confirms jaundice is common in newborns but should be investigated if it persists beyond two weeks. Isabella’s jaundice hadn’t dissipated and scans revealed issues with her liver. A needle biopsy showed Isabella’s bilirubin levels (pigments in her blood) were extremely elevated, revealing her liver was not functioning properly. Doctors confirmed she suffered from biliary artresia – a condition where malformed bile duct openings trap bile, forcing toxins to build up and damage the liver.

Yani says once Isabella’s weight reached one kilogram surgeons performed the Kasai Procedure (a portion of the intestine is used to surgically bypass blocked bile ducts to allow bile to drain to the gut). The surgery took around eight hours.

“I panicked the whole time,” Yani recalls. “We left the hospital because my anxiety got a bit too much. The nurses kept me in the loop about what was going on and then I came back and just sat in the waiting room … and waited … and waited, until she came out.”

Seeing her tiny baby in a crib surrounded by tubes and ‘beeps’ she says was, “probably the most confronting thing that I’ve ever been faced with …”

Dr Ravikumara states that the majority of babies born with biliary atresia require a Kasai procedure but achieving bile flow is not always attainable and the liver may continue to deteriorate. Yani believes Isabella’s liver was too damaged for the surgery to be successful, explaining her daughter already has cirrhosis and portal hypertension (partially blocked blood flow increasing pressure to the portal vein, which can cause gastrointestinal bleeding). This is evident by the venous pattern on her swollen belly. Bulging tummies, explains Dr Ravikumara, are due to enlarged livers and spleens and possibly fluid accumulation. In her daughter’s instance, Yani views the Kasai as “just a preventative, it’s kind of like a Band-Aid.”

Isabella undergoes regular blood tests to assess her bilirubin levels and ingests a “tonne of different medications” including vitamins (as her body struggles to absorb them) and a daily antibiotic to prevent infection.

Fortunately, her premature birth hasn’t manifested in other physical or developmental health issues and for that, Yani says, “We’re so blessed. She’s an absolute miracle.”

However, in August 2016, doctors advised Yani that “a transplant is inevitable” and will need to be done within the next 12 to 18 months. “I think we’ve got to the point now it’s very factual instead of being emotion-based … It’s too hard. I think if I cry every time I get upset about it or something, I wouldn’t get up in the morning …”

Doctors advised Yani that “a transplant is inevitable” and will need to be done within the next 12 to 18 months.

Apart from watching for yellowing eyes – the first sign Isabella’s liver is failing – Yani has purposely not researched the transplant operation. “It’s hard enough hearing all these words that no parent should ever have to hear in their life … it gets to that stage where you just don’t cope, and I didn’t for a long time. [For] a long, long time I didn’t cope at all.” Yani’s voice quietens and tears glisten in her eyes but she blinks them away and continues. “I think it benefits us this time not to know anything about it. I just sleep a little bit better at night. I’m sure it’ll come and I’m sure they’ll start telling me about it in the new year. But until then, no, I don’t want to know anything.”

Dr Ravikumara’s comment justifies her fears, “Liver transplantation is a major undertaking, associated with significant morbidity and even mortality. In general, the bigger the child, the better the outcome.”

To add to Yani’s distress, Isabella must fly to Sydney for the surgery as no paediatric liver unit in Perth exists to enable transplants to be performed on children. She may need to remain in Sydney for up to six months depending on the outcome. Although medical costs, flights and living arrangements are met by the Government, Yani says the emotional strain of being away from her support network, and the financial burden of losing one wage, will weigh heavily.

With support from her husband, Joe, and an au pair, Yani returned to full-time work in January 2016, looking to seek solace in keeping busy. She admits working and placing Isabella into day care has been the “best thing” for their family, and her daughter has thrived.

Interacting with others also gave Yani the impetus to become proactive in campaigning for a transplant facility in Perth, and to raise awareness of Isabella’s plight – and those of other children in her position – by fundraising for the liver foundation. “This is going to be our life. It’s going to be Izzy’s life. Why should another family have to go through what we, and families before us have gone through?”

She adds, “The last two and a bit years have been the greatest years of our life but they’ve also been the most horrific years.” She admits that if her pregnancy had run smoothly she would definitely have planned to have more children. Although biliary artresia is not hereditary there is no known cause and Yani is reluctant to try to become pregnant again as Isabella requires so much attention. Currently she must be taken to regular appointments, follow a diet, and Yani isn’t sure how much care she will need after the transplant. “I wouldn’t want another child to miss out or to feel like everything is dedicated to Izzy and not to them.”

Yani no longer relaxes with a glass of wine as she has chosen to give up alcohol, hoping that Isabella will notice and abstain as well. Before her daughter needs to worry about peer pressure, Yani hopes her toddler sails through the next 12 months “as unscathed as possible” and her memories of this time fade with her scar. “I don’t want her to grow up and remember being poked and prodded. I want her to grow up like any other kid. After everything she’s been through, [I hope she’s] a happy, healthy, compassionate, kind little girl.”

After everything she’s been through, [I hope she’s] a happy, healthy, compassionate, kind little girl.”

To help raise funds toward a liver transplant unit in WA, please contact The Liver Foundation of WA on +618 9336 3178 or contact@liverfoundation.org.au

Six years ago, Giulia Lake gave birth to her daughter, Téa, and knew nothing of the Zika virus. By 2015, as thousands of Brazilian babies were born with smaller-than-average heads due to microcephaly – a condition linked to the virus – she could only empathise. Téa had been diagnosed with a similar but much more severe and rare neurodevelopment disorder called microcephaly-capillary malformation syndrome for which there is no known cure.

Téa averages 20 seizures a day, sometimes over 40, and they continue throughout the night like clockwork – 10pm, 2am and 4am – each one lasting between 10 and 15 minutes.

“They just didn’t know,” Giulia says. “They basically had a meeting with us and gave us all the options that might be out there. So we kind of knew that severe disability was on the cards.”

Looking back, Giulia suspects Téa’s health issues began in the womb. She says a 23-week scan depicted Téa’s head to be disproportionately small, but she recalls no concerns being raised or follow-ups requested. At the same time, she felt continual rhythmic movements in her belly. “I thought Téa was having hiccups which, in hindsight, were probably seizures.”

Since her birth, Giulia says Téa averages 20 seizures a day, sometimes over 40, and they continue throughout the night like clockwork – 10pm, 2am and 4am – each one lasting between 10 and 15 minutes. “I’m not entirely certain if she’s actually awake during the seizure, but she’s asleep when it starts and asleep when it finishes.” Giulia concedes the triggers continue to remain a mystery.

The source of Téa’s issues puzzled doctors until her dermatologist chanced upon a newsletter, detailing a study carried out by a Washington doctor on children with symptoms mirroring Téa’s; specifically a head circumference less than the first percentile, numerous tiny red birthmarks and epilepsy.

Giulia’s little girl is also afflicted with profound intellectual delay, resulting in an inability to walk or speak. Confined to a wheelchair, she has no control over her hands so cannot perform sign language, but will soon begin a trial to learn to communicate with her feet. Tests conclude Téa is vision impaired, able to distinguish only shadows and lights. She struggles to swallow so meals are fed into a percutaneous endoscopic gastrostomy (PEG) tube attached to her stomach, in which medications are also directly injected.

To correct her scoliosis, Téa wears a ‘secondskin’ – a garment which is rigid around her torso ensuring she remains upright with her lungs open. Recurrent pneumonia and aspirations have resulted in lung disease and a constant patchy left lung. Her epilepsy is controlled as best as possible with diet and a variety of drugs. With “a mini ICU going on” in their home, the Lakes avoid transporting Téa to hospital where possible, as it’s paramount to keep her delicate respiratory system free from infection.

Confined to a wheelchair, she has no control over her hands so cannot perform sign language, but will soon begin a trial to learn to communicate with her feet.

Data compiled on all Téa’s health challenges and forwarded to America prior to her first birthday, confirmed a diagnosis of microcephaly-capillary malformation. The condition is so rare, only 12 cases have been reported globally and Téa is believed to be the only child in Australia who suffers from it. The study also revealed the cause of the condition to be genetic. Subsequent blood tests indicate both Giulia and her husband Danny carry a mutated gene. “There’s nothing that connects us in any way so it’s just a random throw of the dice,” Giulia sighs. Their decision to have more children hinged on this information and she reflects sadly on the consequences.

Told there is a one in four chance of future children inheriting the condition, Giulia says, “[It’s] not good odds. I don’t think I’d be able to terminate but then at the same time I wouldn’t willingly do that to another child … I wouldn’t want another child to go through what she does every day.”

Téa requires 24-hour care and Giulia says she and Danny only stopped floundering when they discovered other parents in the same situation.

“Being around people who knew exactly what we were going through, that kind of got us to the point where we’re okay with it. When you’re first in that position you feel like you’re completely alone because you look around and see ‘normal’ people, ‘normal’ families going about their business.”

She admits it took her six months and an encounter with another mother with a special needs child to come to terms with the tangent her life had taken. “It was pretty much at that point that I thought, she’s surviving, she’s getting on with life and her life is still relatively normal. It’s terrifying at the start because you’ve got no idea. You just manage. Fall into your routine. It just turns into ‘normal’.”

Movies, shows, parks and shopping; Giulia ensures Téa experiences everything, although being cuddled by her family is her favourite thing to do. “She’s cheeky. She’s really beautiful,” Giulia says with pride, but is aware outings tend to highlight her differences. She is more relaxed when Téa is in the hospital ward or at gatherings surrounded by children with similar issues.

“It’s hard because Téa is a palliative patient. She’s part of end of life care now… Now everything that is done for her is purely for comfort.”

“It’s nice because you can kinda plonk them down together and they touch hands and make little noises to each other. It’s really cute. All the parents understand what’s going on.” She pauses and adds quietly, “Your kid’s not the weird one.”

Giulia credits Danny, her stepson Jamie, her parents and close friends for providing much-needed assistance.

“My parents are very supportive. They can both care for Téa [just] as well as us,” Giulia says and adds, “I’ve got a friend I’ve managed to quietly train up, so she’s looked after Téa a couple of times as well. It’s not easy for someone not used to doing that.” She insists she and Danny have had to become stronger or risk “falling in a heap”.

Giulia knows of four other children from overseas who have passed away in recent years from complications related to this condition. She explains that generally it is respiratory problems that ultimately claim them so is adamant they live in a warm climate. Currently the oldest child living with the condition is eight years old, only two years older than Téa. This causes Giulia angst which is why she prefers to focus on the present and is reluctant to plan too far ahead.

“It’s hard because Téa is a palliative patient. She’s part of end of life care now, with the hospital. Now everything that is done for her is purely for comfort.” Giulia stresses Téa will not be subjected to invasive, painful or uncomfortable tests and procedures that provide no obvious benefit to her wellbeing. “We just want quality of life, that’s all.”

At six months Joshua was diagnosed with a rare type of dwarfism that results in multiple physical problems including skeletal abnormalities, an unstable neck, club foot and means he may only grow to be three feet tall.

Joshua walks confidently around the room, talking and smiling cheekily, like any two year old. Clamouring for his mother’s attention, he trips and she gasps, flinging her hands out to catch him. He clutches the sofa and giggles, and she visibly relaxes. If her reaction seems overly dramatic, it’s not. Unlike other two year olds, a simple fall could prove fatal.

After a straightforward pregnancy with son Jesse, now three, Michelle Xavier and her partner James Paulson conceived again, just nine months later. The pregnancy progressed smoothly until a 20-week scan revealed their unborn child had congenital talipes equinovarus, more commonly known as club foot. Their shock turned to relief when they realised it was treatable.

At 26 weeks they received another shock when Michelle says, “We got told his limbs weren’t growing as they should and were up to three to four weeks behind.” Doctors suggested they terminate the pregnancy, or brace themselves for the likelihood their baby would die due to a suspected lethal form of dwarfism. Michelle is still astonished that medical professionals continually urged her to end her baby’s life.

“That is something I will never forget. To be honest, it wasn’t an option for James and me. We just thought, he’s still our child and there’s no way we could do that. We stuck to our guns and it’s such a good thing we did.”

Doctors suggested they terminate the pregnancy, or brace themselves for the likelihood their baby would die due to a suspected lethal form of dwarfism.

With no history of dwarfism in either family, Michelle admits she felt like a “lab rat” as doctors attempted to understand the cause and extent of her baby’s issues. She was told Joshua’s condition was “a freak thing that happened at conception”, occurring in less than one in 100,000 pregnancies.

On New Year’s Eve 2013, Joshua arrived via caesarean in a room filled with breathing apparatus and an entire team of doctors. Only 41cm long, the focus was his tiny chest. When Michelle heard “a magnificent roar” she knew his lungs were fine and the breathing machines remained unused. Monitored in ICU for a few days Michelle took Joshua home a week later, overwhelmed by how to care for him.

At six months Joshua was diagnosed with spondyloepiphyseal dysplasia congenita (SEDc) – a rare type of dwarfism that results in skeletal abnormalities, extremely short stature, unstable neck, club foot and problems with the spine and joints.

Joshua’s uniqueness raises questions about his future prognosis. Michelle says, “I kinda wish there was another family in WA to talk to,” but she has found solace communicating with others via the SEDc facebook page. Their experiences offer her insight to what lies ahead, including the possibility Joshua may suffer ongoing chest complaints and become wheelchair-bound.

Speaking to a 60-year-old woman with SEDc gives Michelle hope Joshua will attain a normal life expectancy, but due to his diminished lung capacity, a common cold causes serious complications. A bout of gastroenteritis prior to Christmas, cost Joshua one third of his body weight and admission to hospital.

Michelle shares these details of Joshua’s condition and development on a Facebook page she created called, ‘More Than Just Small’, in the hope it may bring comfort to others around the world.

She documents his operation at seven weeks old to uncurl his feet. With such a small chest, any sedation is dangerous and Michelle says, “It look longer than expected for Josh to wake up.”

It breaks Michelle’s heart when Joshua cries at being strapped in, but the improvements in his mobility prove their worth.

For three months Joshua endured plaster casts so heavy, they would slip off. “Most of the time I sat in a nursing chair with him on my shoulder and that’s how we’d both fall asleep.”

Once removed, for 23 hours a day Joshua’s legs were encased in “boots and bars” – shoes connected to a shoulder-width metal bar to ensure his feet remained at right angles. Now he must wear them for 12 hours each night, until he turns four. Getting tangled in sheets, banging the apparatus on the bars of his cot or wanting a feed, means he rarely sleeps for long periods. It breaks Michelle’s heart when Joshua cries at being strapped in, but the improvements in his mobility prove their worth.

Everyday activities are potentially life threatening for Joshua. “The doctors have told us no rough play, no jumping castles, no trampoline.” It saddens Michelle to explain to Jesse why his little brother is unable to join him on playground equipment. “It’s hard to think about because I want to do the same things I did with Jesse, but I know some things I will never be able to do, nor share that experience with him.”

The unstable bones in his neck increase Joshua’s risk of spinal cord damage. It’s highly likely surgery will be required to fuse his vertebrae in an attempt to stabilise his neck.

Initially Joshua’s intellectual and physical development were delayed but now appear on track. Michelle says, “Because he had such a big head for his body size he found it difficult to hold his head up.” At 13 months of age, Joshua sat in a special chair for 20 – 30 minutes a day for three months, enabling him to strengthen his back. It prepared him to sit unaided at 16 months. He spoke at 14 months, stood at 17 months and took his first step at 18 months.

He still wears size 00 and doctors predict Joshua may only grow to three feet, so Michelle’s worries include everything from bullies, school playtime, reaching door handles, turning on switches and flushing toilets.

Joshua attends up to eight appointments a month but these are dwindling as he gains independence. Since his birth Michelle admits to suffering anxiety. He still wears size 00 and doctors predict Joshua may only grow to three feet, so Michelle’s worries include everything from bullies, school playtime, reaching door handles, turning on switches and flushing toilets, to the fact the world does not accommodate people of his small stature.

Michelle also worries how she’ll explain everything to him. “It makes you think when Joshua is a bit older … he’s going to ask questions. Why aren’t I taller like Daddy? Why can’t I go on that with Jesse? I have to brace myself. I still think about it every day. What do I tell him? How do I tell him?”

“We could easily be angry all the time … I know we’re going to have some people who [are nasty], but we also have people who are genuinely interested in him, as a person, not just his size.”

She will be his advocate for as long as possible but concedes it can be overwhelming when people stare and comment. Having a child with special needs who requires constant supervision places added pressure on Michelle and James but she says, “James is my rock. He’s such a great dad. I think our relationship is definitely stronger since having Josh. It’s opened our eyes to different things we used to take for granted.”

She adds, “We could easily be angry all the time … I know we’re going to have some people who [are nasty], but we also have people who are genuinely interested in him, as a person, not just his size.”

She hopes her smallest son soars to incredible heights in his life and says, “He was born to stand out, there’s no point hiding him. As long as we make Joshua feels comfortable with his condition and show that we love him no matter what, I think that will be enough to make him venture out there.”

It’s every parent’s worst nightmare to learn their child has cancer, one Naomi and Hannes Holly wish they could wake from.

On 2nd February 2016, the lives of Naomi and Hannes Holly were thrown into turmoil, when tests revealed a malignant tumour strangling their eight-month-old daughter’s spine. No-one can confirm if it existed at birth, or pinpoint when it first appeared. All Naomi knows is, she wants it gone.

Nora, who the couple affectionately call, their ‘Ginger Ninja’, is little sister to two energetic brothers: Jonte (6) and Johnas (4). Naomi recalls all three pregnancies and births as unremarkable, with the exception of feeling nauseous whenever she consumed anything sugary, while pregnant with Nora.

Naomi proudly claims her little ‘Pocket Rocket’ was crawling, pulling up and using push-toys at seven months.

“She was actually quite ahead of all her milestones,” Naomi recounts.

Three days prior to their life-changing diagnosis, Naomi placed her grizzly baby down for a nap, thinking she was teething. When Nora woke, Naomi noticed her legs weren’t kicking. She placed her baby at the coffee table and Nora’s legs buckled beneath her.

“She was just gripping onto the table,” she says. “She wasn’t doing any weight-bearing at all.” Naomi said Nora’s sudden inability to move her lower limbs was as if a switch had been flicked.

“I want Nora’s story to be told so parents feel they can question doctors, nurses, anyone, regarding their children. Especially first time mums.”

An initial consultation at their local hospital resulted in a doctor deciding Nora’s condition was ‘behavioural’, which Naomi says, she refused to accept. Blood tests and x-rays of Nora’s legs and hips were then arranged. “That’s when they said there might be something suspicious in her right leg, probably a toddler fracture.”

A plaster cast was fitted to only one leg which unsettled Naomi as she suspected Nora’s issues involved both limbs. Her uneasiness escalated when she witnessed her baby’s condition worsening. She says when Nora struggled to sit, she feared the problem could be spinal and expressed her doubts, “What happens if she ends up being paralysed or her organs stop working?” It appeared to her as though something was creeping up Nora’s body.

The concerned parents deliberated over driving to the specialist hospital for children, but chose to wait until Monday. Naomi thought the weight of the plaster cast might have hindered any improvement but, “Come Monday morning, she was like a little rag doll”.

“[I want] to make it a really special one because you don’t know if it’s the first of many or her …” Naomi stops as she cannot bring herself to say ‘last’

Now really worried, Naomi raced Nora to the children’s hospital where staff removed the cast because, she was told, there was actually no evidence of a fracture. Unfortunately, multiple scans booked for the morning following Nora’s admittance uncovered something far more sinister.

Naomi’s eyes fill with tears when she recalls the moment doctors mentioned neuroblastoma, a rare type of cancer consisting of specialised nerve cells, which commonly affects infants. A large tumour spanned the length of Nora’s spine from her T1 vertebrae to her T8, pinching her spinal cord to 85 per cent, causing the loss of mobility.

“A bit of disbelief [and] a lot of grief,” is how Naomi describes her feelings after the diagnosis. During five hours under general anaesthetic, Nora underwent an MRI, CT scan, biopsy and lumbar puncture. “Hard day,” Naomi whispers, “A day I won’t ever forget, that’s for sure.”

Emergency chemotherapy and steroids were administered that Tuesday. “We didn’t know how long her spinal cord had been crushed for or what permanent damage had been done. We still didn’t know if she would ever walk again.”

Nora endured three days of chemotherapy and gradually regained strength. “She made progress every single day. You could see her getting stronger and stronger, that’s just her spirit.”

“Parents know their children the best, so keep asking until you are happy. Don’t ever feel silly for asking. Follow your instincts.”

Coming to terms with the enormity of their situation, Naomi says, “It was hard. My first reaction was like, how am I going to juggle this? How am I going to be there for my boys and my husband as well? I felt really disjointed from what was going on in their lives. As much as family time was important before, it’s just got a completely new depth.” She credits her “awesome support network” for helping her and Hannes get through some tough days.

The anxious parents waited two weeks for test results that would clarify if the cancer had spread to Nora’s bones and if the MYCN amplification gene was present, which indicates a more aggressive tumour. Those tests returned negative but Naomi explains an MIBG test, where nuclear dye is injected, showed several smaller ‘satellite’ tumours.

The initial chemotherapy was followed by further rounds every three weeks. After every second round Nora had an MRI and MIBG to monitor her progress. Naomi says the tumour shrunk 36 per cent after the first two rounds, but with no significant changes since then the doctors opted to operate. Surgery was booked for May 6 but Nora’s immune system completely crashed and she developed a rash requiring a week in hospital on antibiotics.

On Friday 13, three and a half months after diagnosis, doctors performed open surgery. Naomi says they completely detached the tumour from Nora’s spine, removing 90 per cent of it, although a tiny amount remains attached to her aorta.

Three days later, Nora was weight-bearing and walking around her hospital cot. Now back at home, she is crawling and furniture-walking as if nothing happened. Her gorgeous smile and lively demeanour belie the internal battle raging within her tiny body, making it difficult to understand how her prognosis could be anything but positive.

Taking a deep breath, Naomi wipes away tears and says it’s a matter of “wait and see” to gauge the tumour’s response to treatment.

“They’ve given her a 70 per cent chance of survival. She will probably be having tests every three months just to monitor it and make sure it doesn’t come back, or it doesn’t grow somewhere else. For the next five years, and probably for the rest of her life, we’ll be on edge.”

Naomi is aware that even if children survive this cancer, it’s possible they may not survive the side effects of treatment, which is why she hopes radiation is unnecessary and chemotherapy is limited.

She admits to feeling angry towards the original doctors. She believes if the plaster cast had remained on, Nora might have been at risk of becoming paralysed, as essential treatment would have been delayed.

“I wish to see her grow into a beautiful woman”.

According to Neuroblastoma Australia; as the disease is so rare with symptoms that can be vague and mimic other illnesses, making a diagnosis can prove difficult. On behalf of the local hospital which diagnosed Nora with a leg fracture, Dr Lachlan Henderson stated that their staff, “undertook investigations based on the clinical presentation” of Nora, and had consulted with the children’s hospital regarding treatment. The Hollys were also advised to return if Nora’s condition deteriorated.

It will be Nora’s first birthday soon. “[I want] to make it a really special one because you don’t know if it’s the first of many or her …” Naomi stops as she cannot bring herself to say ‘last’. Tears flow freely and almost inaudibly, she shares her hope for Nora’s future, “I wish to see her grow into a beautiful woman”.

Naomi dries her eyes and adds, “I want Nora’s story to be told so parents feel they can question doctors, nurses, anyone, regarding their children. Especially first time mums. Parents know their children the best, so keep asking until you are happy. Don’t ever feel silly for asking. Follow your instincts.”

If you wish to help the Holly family, please donate to www.mycause.com.au/payment/frp_donation/118476

Mum, Laura, administers 13 medications a day to daughter 18-month-old Charlotte, who had her first operation at three days of age, and worries that just a common cold could prove lethal to her third child.

Charlotte’s gorgeous grin and serene temperament belie her extraordinary struggle for survival and tenacity to cling to life, as her tiny body is ravaged by a multitude of health issues. Her cherubic face lights up as four-year-old sister Isabella twirls nearby in her sky-blue dress, and seven-year-old brother Joshua chases a bouncing ball. Their mother, Laura, looks on with mixed emotions. She draws strength from spending time with her three children, and prefers not to dwell on the uncertainty of Charlotte’s life expectancy.

Laura’s third pregnancy progressed similarly to her previous two and she had no qualms about attending the first trimester screening. An unexpected phone call requesting she visit the doctor’s rooms to discuss the result, “knocked the wind out of me,” she says.

The nuchal measurement on the back of her baby’s neck was 9.1mm, she’d been told, much higher than the standard 2.5mm – 3.5mm. She says, “They basically said the chance of a good outcome was very, very slim and I was more or less led to believe that she wouldn’t make it. It was not a viable pregnancy.”

Chorionic villus sampling (CVS), a check for genetic abnormalities, was arranged and Laura says all Charlotte’s chromosomes were fine and there was no indication of any syndromes. “So we breathed a sigh of relief and thought that everything would be fine with her,” she says.

The scan revealed Charlotte suffered from an extremely severe case of congenital diaphragmatic hernia – all her abdominal organs had migrated into her chest, inhibiting the area available for her heart and lungs to develop.
She dissolved into tears when the doctors recommended terminating the pregnancy, handing her a tablet to ingest to induce birth.

At 19 weeks Laura underwent an anatomy scan. When the sonographer consulted with others, Laura started to feel uneasy and suspected something might be wrong. Her suspicions were confirmed when they asked her to meet in the counselling room to review the findings.

The scan revealed Charlotte suffered from an extremely severe case of congenital diaphragmatic hernia – all her abdominal organs had migrated into her chest, inhibiting the area available for her heart and lungs to develop. The implication was insufficient lung tissue to enable Charlotte the ability to breathe.

“They said the chance of her surviving to term, and then making it to the surgery she’d have to have almost at birth, and on through to being discharged and having a healthy life, was almost non-existent. They said it was a less than 10 per cent chance,” Laura says; and adds, she dissolved into tears when the doctors recommended terminating the pregnancy, handing her a tablet to ingest to induce birth.

They believed if Charlotte survived to term and her operation was successful, it was likely that would be the extent of her issues.

That night Laura couldn’t sleep. Instead she researched the disease. Her Googling presented her with pictures of children with comparable prognoses, looking perfectly normal and leading relatively ordinary lives. The next morning she shared her discovery with her husband. They believed if Charlotte survived to term and her operation was successful, it was likely that would be the extent of her issues. They agreed to proceed with the pregnancy. Laura describes this pregnancy as “extremely stressful” and “tough both emotionally and physically”. Every ten days from 25 weeks until her caesarean at 38 weeks, Laura drove 100km each way from Northam to King Edward Hospital in Subiaco, to have two litres of amniotic fluid drained directly from her belly, because Charlotte wasn’t able to swallow and process it.

The days she didn’t feel many kicks Laura experienced a “sinking feeling” and wondered if Charlotte had already died.
“I don’t think I allowed myself to think about bringing a baby home just in case it didn’t happen. If anything I’d started thinking what was the memorial service going to look like?”

The days she didn’t feel many kicks Laura experienced a “sinking feeling” and wondered if Charlotte had already died. Laura says, “I’d almost started grieving her during the pregnancy as a form of self-preservation. I had no baby things out. I hadn’t got the cot ready. I had no clothes packed. I don’t think I allowed myself to think about bringing a baby home just in case it didn’t happen. If anything I’d started thinking what was the memorial service going to look like? How am I going to get through that? What do you do for a newborn no-one’s really ever going to meet?”

Charlotte arrived on 21st March 2015 and Laura says her baby had a tube down her throat and drains inserted before she was even cleaned. Transferred to Princess Margaret Hospital at seven hours old the tiny tot endured her first surgery at three days of age.

Charlotte was three and a half weeks old before Laura was allowed to cuddle her.

“I was nervous as anything to be honest. She was so fragile looking; she still had a machine basically breathing for her and tubes coming out of everywhere.”

Charlotte was three and a half weeks old before Laura was allowed to cuddle her. “I was nervous as anything to be honest. She was so fragile looking; she still had a machine basically breathing for her and tubes coming out of everywhere. I was terrified I was going to dislodge a tube, or move something, or block her mouth … I was just too scared to hug her too tightly. It was very nerve-wracking.” Up until that point Laura had been given strict instructions how to handle Charlotte. Gentle touching was fine, but stroking could create additional stress to her baby as she tried to process the sensation, which could result in her becoming unstable.

Charlotte went home at six weeks old but failed to thrive and returned two weeks later. Since then, Laura says, she hasn’t been home for more than three weeks at a time. “When we were first discharged we thought her diaphragmatic hernia had been repaired and we were good. That was it. She didn’t have a chromosomal issue. We thought we were taking home a healthy normal baby.”

The geneticist noted Charlotte’s dysmorphic features – wide set eyes and low set ears which, she told Laura, are indicative of a genetic condition.

She explained that it’s not until babies are older that developmental delays, specific features and certain behaviours are noticed.

Unfortunately various investigations since have uncovered numerous anomalies within Charlotte’s complex anatomy. In her short life she has already undergone 13 surgeries, many to do with resolving feeding issues. Charlotte’s stomach simply doesn’t function so after unsuccessful attempts at breastfeeding, tubes have been placed up her nose, down her throat, directly into her stomach and currently she is fed via the duodenum.

With her hearing below par she has been fitted with bilateral grommets to drain excess fluid and had her adenoids removed. She has been diagnosed with epilepsy and cerebral palsy, has a bi-uvula palate abnormality, and her lower left rib is fused.

An MRI also depicted the brain’s layer of white matter, which conveys messages to the body’s muscles, to be noticeably thinner than average. The geneticist noted Charlotte’s dysmorphic features – wide set eyes and low set ears which, she told Laura, are indicative of a genetic condition. Laura says the geneticist openly admits she doesn’t understand the cause of Charlotte’s problems, other than finding a very minor duplication of one of her x chromosomes. She explained that it’s not until babies are older that developmental delays, specific features and certain behaviours are noticed.

Laura administers 13 medications a day to Charlotte, takes her to weekly specialist appointments and worries that a common cold could prove lethal.

Laura has been advised that Charlotte’s global developmental delay is at about a six months level and that her daughter will never sit unaided, walk or talk. She knows the risk of re-herniation is ever present, with scar tissue and adhesions adding complications to future procedures.

Laura administers 13 medications a day to Charlotte, takes her to weekly specialist appointments and worries that a common cold could prove lethal.

Laura concedes, “She is considered palliative and there is no cure: it’s just a case of managing and keeping her as comfortable as possible.”

Although the impact of Charlotte’s ongoing challenges has resulted in Laura separating from her husband and their older children being confronted with their sister’s mortality, Laura would prefer to focus on the positives.

“She’s here and I think she’s here for a very good reason. She’s got a lovely temperament and so many people are inspired by this little girl.” Laura adds, “My hopes are just that she reaches her full potential and that she’s given the opportunity to be the best that she can be and be as comfortable as she can, for as long as she can.”