How Symmie survived a rare disorder affecting just four people in the world

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One of the rarest medical conditions on the planet is just part of a life spent fighting against the odds.

There is no one else in Australia like Symerien and only three others in the world share her condition.

Diagnosed with a complex congenital syndrome, doctors gave her a year to live, her short life expected to be filled with little growth, development or understanding.

Symmie, as she has come to be known, is mute, legally blind and hard of hearing.

But since the day she was born, six weeks early, she has fought to survive.

WARNING: This story contains content below that some readers may find upsetting.

Earlier this year the tenacious youngster celebrated her fifth birthday alongside her classmates at Gladys Newton School in Perth's north.

Her mother, Sharyn, made a special Elmo cake the whole class enjoyed.

Symmie adores the bright red Sesame Street character because red is one of the few colours she can make out.

As she looked on singing happy birthday, Sharyn could not help but think back to five years earlier.

The day Symmie was born.

A day Sharyn was not there for.

A traumatic birth

Symmie was born in July, 2014, in Fitzroy Crossing, a small town in the far north of Western Australia.

She is a descendent of the Bunuba people, the traditional owners of the south-west Kimberley, and her totem given to her before birth is the goanna, after a family hunting victory.

While Symmie's family, well-known and respected in Fitzroy Crossing, looked forward to welcoming its newest member, her arrival was fraught with problems.

Symmie's birth mother was intoxicated when she went into labour at 34 weeks.

It took just five minutes after arriving at the remote hospital in Fitzroy Crossing for Symmie to come out, feet first and in a hurry.

She weighed less than two kilograms and had multiple skin abnormalities and lesions across her small body.

One on the left side of her head looked like an open wound.

The mother and child were flown immediately to Broome and the next day to Perth, where Symmie was admitted into the neonatal intensive care unit at Princess Margaret Hospital.

Matrix of medical problems revealed

Symmie was initially diagnosed with SCALP syndrome, an extremely complex and rare skin disease that also impacts the nervous system.

To date only four cases have been reported worldwide.

But in the days, weeks, months and years following her birth, Symmie was diagnosed with numerous other conditions.

Her overarching diagnosis is now Mosaic NRAS gene mutation RASopathy, under which her SCALP syndrome now sits.

RASopathies are a group of developmental syndromes caused by mutations in genes, which can cause a wide range of issues.

Symmie also has epilepsy, was born with an underdeveloped cortex in her brain and has been diagnosed with level three autism (the highest on the spectrum), along with global developmental delay that places her intellectual development at three years below her current age of five.

One of the most serious of her conditions is neurocutaneous melanosis sequence. In simple terms, Symmie has multiple tumours on her brain.

Since she was born the tumours have needed to be checked every three months to determine if they have become cancerous.

She also has rickets, is blind in her right eye and has optic nerve hypoplasia in her left.

As part of her SCALP syndrome, Symmie grows dermoid cysts in her eyes — non-cancerous growths that can generally be removed.

But because Symmie's dermoids are so large her ophthalmologist, Professor Geoffrey Lam, cannot remove them completely.

Instead he must scrape them back on a regular basis, causing damage to her already limited eyesight.

All up Symmie has 28 specialists she now sees at Perth Children's Hospital.

But no one knows her medical needs better than Sharyn, the only mother Symmie has ever known.

When Sharyn met Symmie

Sharyn was a 50-year-old grandmother when she first met Symmie, then just six days old.

She had flown to Perth from Fitzroy Crossing to support Symmie's birth mother, having been a long-time friend of the family.

Four days after she arrived Sharyn was called into a meeting with Symmie's birth mother and representatives from the WA Government.

"Her mum turned around and said that she didn't want the child and she was giving her to me," Sharyn says. "So I took her on."

Sharyn remained by Symmie's side from that point on.

"I took her home from hospital in stages," she says.

"She was five weeks old when we were allowed to fly back to Broome and then it was another week or so before I could take her to Fitzroy Crossing."

With three children of her own and six grandchildren at that time (she now has eight), Sharyn says it was never a consideration not to welcome Symmie into her life.

"At first I kind of felt like she was another grandchild," she says.

"A few months later, when I knew I was keeping her, my feelings changed to more maternal, to a mother."

Despite Symmie's medical needs, when the pair arrived back in Fitzroy Crossing life settled for a short time.

Symmie was a relatively happy and engaged baby who quickly bonded with Sharyn, knowing her by touch and smell.

Every three months Sharyn would take Symmie to Perth for scans and other check-ups, and before long Symmie celebrated her first birthday.

Sharyn was Symmie's carer, parent and advocate. Symmie became Sharyn's world.

"No one else understood the child, no one else understood the illness," she says.

"I did so much research on it and even the doctors say that I know more about it than them."

A struggle with the system begins

Under Sharyn's constant, considerate and loving protection, Symmie defied expectations.

"She's a very strong, strong child," Sharyn says.

"Very strong willed, very determined and she's been through a lot of things and a lot of illnesses.

"She's actually crashed a couple of times, but she always comes back."

Then in 2017, while in Perth for Symmie's scans, her doctors advised Sharyn it would be best if they moved down to the city from Fitzroy Crossing.

They feared Symmie had developed a brain condition that could be impacted by flying back and forth from their remote home, a round-trip of almost 5,000 kilometres.

The government had proposed that it would provide financial assistance to Sharyn should Symmie be required to relocate to Perth.

Government documents also outlined Sharyn should be assisted with the cost of taking Symmie back to Fitzroy Crossing for visits, to maintain a connection with her family, her land and her culture.

This has never happened.

Instead Sharyn, who ran a taxi company in Fitzroy Crossing, covered the entire cost of moving to Perth, just as she has covered much of Symmie's care since the day she took her on.

"I had to sell my business, I had to sell my block," she says.

"I left my children and my grandchildren behind in Fitzroy Crossing to move down here.

"I love Symmie to bits but my whole life is just revolved around her — her care and her needs.

"I've worked my whole life and now I'm broke."

Unaware and unaided

Sharyn says she believes she was not appropriately briefed on the full implications of taking Symmie on.

Considering Symmie's complex medical needs, government documents outlined that Sharyn should be able to access additional financial assistance, but that did not happen.

Instead Sharyn has received a standard payment from the government of just under $250 a week.

This is to cover a range of expenses including food and accommodation, leisure, outings and entertainment, basic medical treatment, and haircuts.

But Symmie's medications alone cost $150 a week.

Sharyn incurred more than $10,000 debt in ambulance fees alone for Symmie over a 15-month period, when she had a series of epileptic seizures.

When she was three years old, after what Sharyn says were repeated failed requests for assistance, she reached her wit's end.

"It wasn't until I turned around and said to them I needed a break … and if you don't find me some respite you can take her, that they gave me three days," Sharyn says.

"I didn't — I don't — want her to go.

"I love her to bits. She's like my … she is my child."

Advocate 'shocked' at lack of support

Soon after moving to Perth, Sharyn sought assistance through legal advocate Betsy Buchanan.

"We come across extreme and traumatic cases," Ms Buchanan says of her decades-long experience working with mostly Indigenous families.

"We deal a lot with evictions, lack of access to housing and domestic violence, so I shouldn't be easily shocked.

"But I was extremely shocked and upset at her situation."

Ms Buchanan says she cannot understand why Sharyn, who in her opinion is a perfect carer, is being so poorly treated.

"Sharyn was aware of the language, the cultural conditions, had a close relationship with the wider family and was — as I understand it — entrusted with Symmie especially by them," she says.

"She didn't want to remove Symmie from her community but had to out of necessity and they understood that.

"But for her to arrive [in Perth] and to have absolutely no support and no one to turn to, I was completely horrified."

Mounting pressure hits breaking point

For the 55-year-old grandmother, the mounting costs, stress and isolation from her family who remained in Fitzroy Crossing had been building for years.

"I got to a point where I was trapped," Sharyn says.

"I'd spent all my money raising this child and no one would help me. I couldn't even get Centrelink to begin with.

"I've always paid my bills on time and I found myself in a place where they were piling up around my neck."

Desperate and struggling, Sharyn did something she never thought possible — in April she attempted to take her own life.

"I felt I wasn't doing [Symmie] any justice," Sharyn says, her voice cracking with the memory.

"I couldn't provide for her, I couldn't give her the things that she needed.

"I couldn't look after her the way she needed to be looked after.

"I was in such a low place."

Sharyn says her doctors at Sir Charles Gairdner Hospital contacted the government and requested she be provided with assistance.

"I'm trying to do what I can to keep this child alive and give her a long quality of life, not just quantity, and make every day as happy as possible," Sharyn says.

"But when I get failed by services, it makes it so hard to be able to do that."

A mysterious payment appears

After Sharyn's suicide attempt there was some improvement, with the government stepping in to help pay some of her outstanding bills.

Since late August she began receiving additional financial assistance from the government of just over $500 a week.

There have also been two further offers for housing, but they were not appropriate to Symmie's unique needs.

In July, Sharyn felt hopeful after she received an email from a government department, which read:

"I'm concerned by the possibilities for funding and what appears to be buck-passing between services".

Yet since that time further promises or commitments for financial and non-financial assistance have been denied or not yet delivered.

In early October, after the ABC began investigating Sharyn's case, she was informed her retrospective additional assistance payment, dating back to late 2015 when she took on full responsibility of Symmie, had been approved.

Three weeks later, as the ABC was preparing to publish this story, a payment of almost $83,000 landed in Sharyn's bank account, despite her having neither seen nor agreed to a figure.

After emailing a government department for clarification she was told: "… this payment is the total retrospective payment for the [additional financial assistance]."

By her calculations, this figure is $13,000 below the retrospective payments she is owed since late 2015, not including reimbursement for other costs she was promised.

She is still working to determine how that money ended up in her account considering she never signed off on any payment, which is customary.

The ABC provided a long and detailed list of questions regarding Sharyn and Symmie's case to the government.

It responded with a brief statement that misspelt both their names.

"It is acknowledged that families who have complex needs may require particular support to access relevant services and financial support," wrote a government representative.

"In view of this, the [government] has been working to ensure that appropriate supports are in place for both [Sharyn] and Symerian [sic].

"Given privacy issues it would not be appropriate for the [government] to comment further on the detail of this support."

Sharyn's case far from unique

In 2015 the government surveyed 18 people across the state who are in the same situation as Sharyn.

The report found participants had "… advised that the [government] had given them limited and/or inconsistent information about [taking on the role]".

"Four [people] had contacted the [government] to get information about legal procedures and/or where to get legal advice; however, they were advised that the [government] was unable to help," the report stated.

The ABC's questions to the government regarding the situation Sharyn and others are under, and the report itself, were not answered.

By March this year there were 760 children in WA living with people under the same situation as Sharyn, that number having increased year-on-year since this became an option in 2011.

Legal advocate Betsy Buchanan says she believes while Sharyn's case is extreme, she is likely not alone and is calling for an independent inquiry into the way the government handles these types of cases.

"To force someone into such desperation is extremely serious," she says.

"I know it sounds an odd thing to say but I think to myself, 'where is the love?'

"[Sharyn] felt so neglected and it doesn't take money — a team of volunteers simply checking in, helping her access services she should rightly be able to access would do it."

Against the odds, Symmie thrives

Sharyn gave her daughter the nickname "Symmie Wonder", riffing off the famous musician Stevie Wonder, after she saw the joy music brought to her life.

Despite all the struggles, Symmie continues to defy expectations.

Earlier this year she was placed on a drug trial to help her retain the nutrients required to stop her bones from bending and breaking.

She is the only person in Australia on the trial and it has already helped her stand by herself and even take a few tentative steps.

"She is tenacious, cheeky and talented," Sharyn says.

"My world and my guardian angel."

While there are some days that Sharyn still gets overwhelmed and weary of fighting for help, she says she looks to Symmie and cannot help but be filled with joy.

"She gives back and not just to me, to other people around her," Sharyn says.

"She's taught so many people so many different things about life.

"She's here for a reason, she's here for a purpose and she's fulfilling that purpose."

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Topics: health, medical-specialisation, children, child-health-and-behaviour, medical-research, social-policy, infant-health, maternal-and-child-health, perth-6000, wa, fitzroy-crossing-6765

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