WHEN Patrick Humphreys rang to ask us to write a story about his grandson’s first birthday celebration my journalist radar plunged to zero.

Until I heard his story.

“It will be a celebration of Tarik’s first birthday, his 18th birthday and his 21st birthday, because we don’t expect him to be here for any of them,” Mr Humphreys told me.

The Spearwood infant, with the engaging smile and gorgeous blue eyes, suffers Krabbe disease and, at eight months old, has mere months to live.

The killer disease affects one-in-100,000, there is no cure and his grandfather’s impotence was palpable down the phone: “you feel helpless, if he needed blood I could line up a thousand people, but…” he trailed off.

• Tarik is turning one, but is unlikely to turn two so his family is celebrating all his likely missed birthdays at once. Photo supplied

Tarik is only the second person in WA to be diagnosed with Krabbe. The first, young Levi Wibberley, lost his battle last year.

“It’s amazing that under the circumstances Tarik is a bright little guy who loves chocolate,” Mr Humphreys says.

“Although you can see he is deteriorating, he has a smile for everyone.”

Mum Helena Smriko knew early on there was a problem, but doctors and health professionals fobbed her off.

The child care worker has another child, aged 4, and works with babies. She reckons she knows a “thing or two” about them.

“They eat, shit and sleep, and my baby was not doing any of those…but [doctors] weren’t listening,” she says.

It took her having a meltdown at PMH to convince doctors to dig deeper: two months ago a tube was put down Tarik’s throat, to determine the problem.

Being told initially that her son had cerebral palsy was a relief for Ms Smriko, because it offered a reason for his screams of pain, lack of eating and failure to gain weight.

But a lumbar puncture and more blood tests found Tarik actually suffers the fatal degenerative disorder which affects the myelin sheath of the nervous system, and is named for Danish neurologist Knud Krabbe.

Faced with the the imminent and inevitable death of her baby, the 24-year-old shows a stoicism belying her years.

“I have a four-year-old so there’s no point staying in bed, crying,” she says.

She’s keen to raise awareness of Krabbe disease, and has created flyers she hopes doctors will display in their surgeries.

While there’s no cure, an early diagnosis can ease suffering, Ms Smriko says.

“Tarik would have been more comfortable and would have been eating.”

by JENNY D’ANGER