Cooper takes pleasure in splashing around in a swimming pool. Photo courtesy of the Herald Sun.

Chasing his older brother Mitchell and playing around in the swimming pool are two things that bring joy to five-year-old Cooper Anderton. However, his body will become weak and tired well before other kids his age.

Mum Donna says that he has always been slower than other children. When Cooper was three he desperately wanted to learn to ride his bike, but couldn’t push the pedals. This is when she knew that her son was not just lazy, and that there was something wrong.

Following a blood test it was confirmed that Cooper had Duchenne Muscular Dystrophy (DMD). Children usually lose the ability to walk at the age of 12, and eventually their breathing muscles are affected. Ms Anderton and husband Matthew have found comfort in RCH’s neuromuscular clinic, which has about 450 children on its books, and 250 with DMD.

After running and activity, Cooper’s muscles do not repair and grow stronger as they usually should. “In DMD, that normal pathway of muscle regeneration is affected, and the loss and tear of muscles instead causes connective tissue to be replaced that seizes instead of contracting in the same way,” says clinic Associate Professor Monique Ryan.

Cooper will soon be participating in two studies through the clinic. The first will investigate the use of natural supplements in reducing the decline of bone density and muscle strength. Associate Prof Ryan will run the second one, which will be a long-term study focusing on whether other underlying medical problems are caused by a particular deletion in the child’s genetic code.

The clinic hopes to follow in the footsteps of childhood leukaemia in combining results to lead to better treatments. To achieve this, they hope to have every child at the clinic involved in a clinical trial.

“When I started, boys lived until they were about 20-25 years. Now they live to 30-35 years,” says Associate Prof Ryan.

Cooper has been receiving steroids to assist in increasing lost muscle mass, allowing him to be able to run and jump. Ms Anderton says, “He is now able to run to a degree in his own way. He can jump. To see his own two feet come off the ground an inch – it’s on Facebook, it was on YouTube – I told everybody.”

Ms Anderton has further said that the neuromuscular clinic’s compassion, prompt phone calls and emails are typical of the RCH’s neurology clinic. “As much as it’s devastating to be told that all your hopes and dreams for your boy are not going to be what you envisaged, you know they’re there for you…it feels like they’re a family team supporting you.”

Nicholas undergoes brain monitoring at the RCH. Photo courtesy of the Herald Sun.

For five years, the prospect of peaceful slumber has been out of arms reach for Nicholas Kontogeorgis and his mother, Julie.

The five-year-old has been plagued by night terrors that would wake him up to 10 times a night. The episodes leave Nicholas exhausted by the afternoon and cause anxiety at kindergarten  His mother, who sleeps in the same room as her son to ease his anxiety, is similarly exhausted and desperate to find a solution.

Last week, Nicholas was admitted to The Royal Children’s Hospital (RCH) to undergo five days of brain monitoring.  Nicholas was hooked up to a video EEG recording unit, attached by electrodes glued to his head.

Given his history of epilepsy, doctors first imagined the night terrors to be caused by seizures. However, the week of monitoring showed that Nicholas suffers from a sleep disorder called parasomnia.

Nicholas has now been referred to a sleep specialist and his mother Julie is hopeful that new treatment will help her son return to a normal routine.

Click here for a gallery of photos from The Royal Children’s Hospital Good Friday Appeal on the Herald Sun website.

Maeve and her mum Penny exploring the gardens near the RCH. Photo courtesy of the Herald Sun.

Maeve Gleeson’s intractable epilepsy was so severe it was causing her to have clusters of up to 90 seizures per day.

At the worst point, her high doses of medication weren’t working and surgery to remove the part of the brain causing seizures wasn’t an option for Maeve. It was then that the four-year-old became the youngest person in Australia to undergo Vagal Nerve Stimulation. The device sends electrical ‘shocks’ to the vagus nerve, the longest cranial nerve which runs down the neck connecting the brain to most of the organs.

Director of Neurology Associate Professor Andrew Kornberg says Maeve is much more awake and much more responsive. “This was her last resort and it seems to be working well.’’

Associate Prof Kornberg says the device doesn’t work for everyone and the RCH clinic’s targeted selection of three to five surgeries a year is providing better results.

Maeve’s mum Penny says her daughter can now make the most out of the different therapies available. “I only let myself take it one day at a time. If she was able to say a word, I’d be pretty happy. If Maeve was able to communicate through a device I’d
be really happy.”

Click here for a gallery of photos from The Royal Children’s Hospital Good Friday Appeal on the Herald Sun website.

Lexi enjoys the GFA festivities at Etihad stadium with brother, Jed, and sister, Evie. Photo courtesy of the Herald Sun.

It is hard for a two-year-old to understand the complexities of leukaemia, but little Lexi West is happy to go along with all of the medical appointments and treatments she needs.

The bright Geelong toddler was diagnosed with acute lymphoblastic leukaemia in September last year. Her weekly visits to The Royal Children’s Hospital (RCH) will soon become monthly visits, as she begins maintenance chemotherapy that will last for the next 18 months.

Click here for more stories and photos of the RCH Good Friday Appeal.

Sienna uses facial expressions to communicate her emotions. Photo courtesy of the Herald Sun.

Just before her first birthday Sienna Horton lay in intensive care following a group of unexplained seizures. Parents Lisa and James Horton were told that the white matter in Sienna’s brain was disappearing due to leukodystrophy. They were informed that it was responsible for the breakdown of the nerves used for processing and cognition, and was progressive and untreatable.

At this stage, doctors could not predict how long Lisa and James would have with their little girl.

Lisa and James are now four years on with Sienna still by their side, however the day of the diagnosis is still a painful memory for them.

Mr Horton said that the doctors’ confidence has grown in the last 12 – 18 months following the new finding, and that they are hopeful Sienna will be able to continue learning and growing. “We just don’t know in what capacity and in what way” he said.

Sienna has been under the care of Director of Neurology, Associate Professor Andrew Kornberg, who has given the Horton family confidence in Sienna’s future. “The RCH isn’t just about having experts, qualified physicians and surgeons…It’s about people who understand the conditions and who can provide hope,” says Mr Horton.

Mr Horton expressed his gratitude to the planning, positivity and programs of the neurology department. The Horton family are also able to be linked to future myelin repair clinical trials through the department’s international collaborations.

Focus has now moved onto Sienna’s learning habits – she has started prep at a mainstream school this year and has recently learnt the process of reading.

Although she is yet to talk in sentences, Sienna is learning to use exaggerated facial expressions to convey different emotions. This repetitive process will allow Sienna to learn it and rechannel it through a different way in the brain.

“She’ll be behind the others, but I think in the long term she’ll be as capable and independent as you or me,” says Mr Horton.

Vida flashes a brave smile. Photo Courtesy of the Herald Sun.

Brave Vida Dziduch has come all the way from Queensland to be treated at The Royal Children’s Hospital (RCH). Her rare condition was not picked up until she was six weeks old, to parents Che Dziduch and Louisa Banner, it looked like their daughter was trying to sneeze.

The 14-month old was born with hemimegalencephaly, a condition where the brain does not form properly in the womb. Half of the brain is abnormally large, which causes seizures.

Ms Banner’s Grandmother, a former nurse, could see that the twitches and clenches that made Vida look like she was sneezing were the makings of something far more complex, and urged her granddaughter to have Vida checked.

After presenting to hospital in Queensland and learning of Vida’s diagnosis, the couple found out that their baby would need to travel interstate for surgery. Although Sydney was a closer option, the couple opted to travel to Melbourne where Vida’s doctor would be the celebrated Ms Wirginia Maixner, who led the separation of conjoined twins Trishna and Krishna.

Vida’s condition is normally addressed by removing the problem area that is causing the seizures. In Vida’s case, 60 per cent of the right side of her brain was the concern.

A marathon 20-hour operation ensued in which Vida went through five times her blood volume in transfusions.

If her seizures return, Vida may have to endure further surgery and have more brain tissue removed. It may be up to two years until doctor’s can assess if her peripheral vision has been affected.

Meanwhile, Vida’s parents are staying positive and treating their daughter’s illness as a hurdle rather than a tragedy.

Erika Mondragon said today was the best day of her life. After a nine-month battle with Ewing’s sarcoma, a bone cancer, the 12-year-old has finally finished her treatment and can go home for Easter.

Erika has undergone treatment at The Royal Children’s Hospital, including 14 rounds of intensive chemotherapy and surgery to remove a bone in her arm, the location of the tumour, and replace it with bone from her leg. The surgery meant Erika had to re-learn how to use her arm.

“I never thought in my whole life I would get cancer, but now I just feel so happy”, said Erika.

RCH oncology resident, Dr Sally Campbell, said if you can re-sect the tumour and treat any lasting elements with chemotherapy you can offer a cure.

Donate to The Royal Children’s Hospital Good Friday Appeal at goodfridayappeal.com.au or phone 9292 1166.

Click below to watch the 7 News story.

Chanel back home after surgery. Photo courtesy of the Herald Sun.

Eight-year-old was born with craniosynostosis, a condition caused by the growth plates that move to give room to the growing brain closing too early. When Chanel was born she had a tower-shaped head, which was applying too much pressure to her brain.

At just 10 months of age, surgeons at the RCH remodeled Chanel’s skull bone to relieve pressure from the fused plates. Although this surgery created space for Chanel’s brain to develop, it left her with one temple hallowed in and the other curved out.

Chanel’s dad John said that she always wants to wear her hair down, “with her long hair, she tends to hid her temples and face with it”.

Last week, surgeons operated on Chanel to correct her temples. The much anticipated surgery required using bone substitute to correct the shape of her temples, bringing Chanel closer to her wish of looking more like her friends.

“Chanel just wants to look like a normal girl” John said.

Caleb undergoing rehabilitation at the RCH. Photo courtesy of the Herald Sun.

In three-weeks eight-year-old Caleb Scarlett will have the plaster removed from his legs after surgery at The Royal Children’s Hospital (RCH) to break his thigh bones and rotate his legs.

Caleb has cerebral palsy and has always walked with both knees and feet bent inwards. It took four surgeons three hours to rotate Caleb’s twisted femurs and fix them with metal plates, and also release tendons in his calves to stop Caleb walking on his toes.

With Caleb preparing to return to school after Easter, his mum Cathy Scarlett said this would mean the start of a new life for her son.

“I hope this is the turning point for him where he can become more independent,” she said.

Oscar Rose at the RCH. Photo courtesy of the Herald Sun.

Usually parents deal with rule breaking when their children are entering their teens. But parents, Hanna and Danny Rose, have been watching their baby, Oscar, break all the rules of his condition since he arrived.

Oscar was born with a mild form of achondroplasia, a bone growth disorder affecting the length of arms and legs. Prenatal scans detected the abnormality at 38 weeks.

The couple’s own research led them to The Royal Children’s Hospital (RCH) where they were reassured by Professor Ravi Savarirayan, an internationally renowned expert in genetic skeletal disorders.

Danny expressed surprise when Oscar was born, his legs were not as tiny as he had imagined and Oscar looked like a normal baby. Professor Savarirayan refocused the couple’s attention on enjoying their baby, encouraging them to understand that Oscar was indeed a normal baby with a mild condition that does not normally provoke any complications in the first year.

But, on January 10, Oscar defied the rules when his lips and face turned blue and he stopped breathing. As soon as the paramedics had stabalised the him and left, Oscar again turned blue. Under observation in the Emergency Department of the RCH, the same episode occurred another four times.

The baby underwent every possible check, but tests proved inconclusive and the episodes were put down to a virus. The RCH Neurology Department continued to review Oscar’s case, and two days after he returned home, they found the source of his problems; his top two vertebrae were pressing on his spinal cord, stopping his breathing.

A risky surgery ensued that should have brought the Oscar’s troubles to an end. However, the seizures continued, the source of which is still relatively unknown and very complex.

Associate Professor Andrew Kornberg says that there are three factors contributing to Oscar’s seizures. Firstly, his severe reflux temporarily reduces blood flow to the brain and secondly, the area of his brain that controls breathing may not have developed properly. Thirdly, there are the unexplained seizures that Associate Professor Kornberg describes as small “storms of abnormal electrical activity that cause him to stop breathing”.

Oscar’s rare and puzzling condition has opened a new window for research into mild achrondroplasia, doctors suspect that other babies born with the condition may have suffered from the same complications.

Hanna and Danny are hopeful for Oscar’s future and give credit to Oscar’s specialists at the RCH. He may be eligible for a world-first drug trial for children with achondroplasia, run by the RCH and Murdoch Childrens Research Institute, that hopes to kick-start bone growth.

Click here for a gallery of photos from The Royal Children’s Hospital Good Friday Appeal on the Herald Sun website.