Batten disease: Saylah was a happy toddler until she was diagnosed with rare genetic condition

Saylah Moylan-Starkey was a happy and cheeky toddler until one day her parents noticed something was off.

In June the then-one-year-old, who lives near the Whitsundays, Queensland, suddenly stopped responding to her name, speaking and using her hands.

Her condition only got worse but, despite numerous hospital visits and attempts to get an urgent paediatric referral, it took months for a doctor to diagnose Saylah with infantile Batten disease.

The fatal genetic disease primarily affects the nervous system of about one in 100,000 children, usually developing at about 18 months of age and causing nerve cells in the brain to die over time.

Without a cure, most patients only make it into mid-childhood before succumbing to its effects, according to MedlinePlus.

Saylah’s parents, Arron Starkey and Tess Moylan, put their final hopes in an experimental trial in the United States but family friend Marnie Marshman told 7NEWS.com.au the toddler’s condition had already regressed too far for her to be considered.

“Saylah had to be able to stand, even while holding someone’s hand before she would be accepted,” Marshman said.

“But no matter how much help she got from physiotherapists, chiropractors and exercises at home, (the disease) wouldn’t let it happen.

“It just takes, takes, takes and never gives back even an inch.”

Marshman said delays in getting a doctor to properly look into Saylah’s condition were demoralising for Starkey and Moylan, who knew something was wrong with their daughter — who celebrated her second birthday on November 15.

“She was throwing up everything, food, water, medication,” Marshman said.

“They took Saylah to the hospital and the doctor gave her a wafer for nausea and told Tess and Arron to give her a feed and sent them home.

“As soon as they got home Saylah was throwing up again.

“They had taken Saylah to the hospital six nights in a row during this time ... she had not had any bowel movements for nine days and with everything Tess was telling them she kept getting the same response: ‘She is fine, that is all normal’.

“They treated her like she was overreacting.”

Marshman described the young girl as having “come into this big world with the most pure, bright little soul”.

“She was always happy and very cheeky — ‘no’ meant ‘yes I can’ and ‘don’t touch’ meant ‘I’m going to touch it anyway’,” she said.

“Saylah’s regression is faster and every day is so different from the day before.

“She now has muscle spasms making it next to impossible to hold her and, without medication, it doesn’t stop, it just gets worse.”

Saylah is feared to have lost her sight and hearing during her most recent stint in hospital last week.

Marshman said she is “very lucky” to see Saylah every day while also being a support for Starkey and Moylan who “both carry it with such courage and love”.

“It’s really taking a huge toll on them both right now, they’re completely exhausted,” she said.

“They take turns of staying up all night with Saylah well the other tries to get a bit of sleep.

“They don’t complain even when they have every right to, this is the hardest thing I have ever seen but it is also the most powerful love I have ever witnessed.”

Another family friend, Tina Court, launched a GoFundMe in October to help ease the financial burden of medical bills and travel.

“Saylah has my heart and anyone who has the pleasure in meeting Saylah will feel the same way I do about this little girl,” the fundraiser reads.

“She is one in a million and we want to make a difference for Saylah.”