Aviana McElwee probably won’t make her first birthday but her parents are determined to make every day count

FIVE-month-old Aviana McElwee probably won’t make her first birthday so every night when her parents go to sleep they thank her for giving them the gift of another wonderful day being her mum and dad

Five-month-old Aviana McElwee ... every night, before her parents go to sleep, they thank her for giving them the gift of another wonderful day of being her mum and dad. Picture: Supplied

FIVE-month-old Aviana McElwee probably won’t make her first birthday, so every night before her parents go to sleep, they thank her for giving them the gift of another wonderful day being her mum and dad.

A day after turning three-months old Aviana was diagnosed with Spinal Muscular Atrophy Type 1.

It’s a fatal genetic condition that affects roughly one in 6000 babies.

Symptoms of the condition can include poor head control, weakness of muscles of the arms and legs and difficulty in coughing or breathing deeply.

SMA has been described as the infant version of Motor Neurone Disease and means eventually young Aviana’s muscles will waste away and breathing will become impossible.

Her name means the ‘graceful flight of a bird’ and Aviana, or ‘Avi’ as she is affectionately known, is the first baby for Wanguri couple Jonathan and Bethan McElwee.

Mrs McElwee said when Aviana was born it was the happiest they’d ever been.

“We were really happy and thought everything was great, she’s always been really bright and engaging,” she said.

Aviana McElwee, with mum Bethan and dad Jonathan, meeting Mickey and Minnie at Carols by Candlelight at The Domain in Sydney, the night before her surgery. Picture: Supplied

“SMA is really hard to spot in babies. We took her to a paediatrician because she had a bit of a flat head and presented as a little bit floppy.

“He tested for absolutely everything and when we found out it was SMA it was a massive shock to us, we’d never even heard of it before.”

Following Aviana’s diagnosis, both Bethan and Jonathan discovered they were carriers of the defective gene.

It has meant that Aviana was born with a one in four chance of having SMA.

“You can have a blood test to see if you’re a carrier (and) we’d like to see it become a standard test for people wanting to start a family,” Mr McElwee said.

“Had we had known of the risks we could have investigated other ways of having a family ... nobody deserves to watch their child die.”

Mrs McElwee said the most devastating thing was learning they would have “to watch her shut down in front of our eyes”.

“There’s nothing we can do to stop her wasting away ... what seems really scary at first you’re surprised at what you are able to deal with,” she said.

“We don’t want her to see us upset, we want her to see us smiling and happy, we tend to cry in private.

“It was like the end of the world for us, each day or each week is precious and we just cherish all of the time we have with her.

“If you met her you’d not even know she was sick, we’re just so proud, she’s so bright, so bubbly and so strong.”

The young family is currently in Sydney where Aviana is receiving access to a special drug helping with her muscle strength. It won’t increase her life expectancy but will improve the quality of her life.

The couple is determined to make every day count with their little one and have set about ticking off items on a bucket list.

So far she has seen her first musical, attended Darwin’s Beer Can Regatta, had her first day of school and even got kicked out of a Sydney pub for being there too late.

“When our precious angel is physically gone from this world nobody can take away the precious moments that we have shared together,” Mrs McElwee said.

“The beautiful memories that we are making will live on forever.”

Mr McElwee said the couple was determined to raise awareness about SMA and wanted to thank the community and staff at Royal Darwin Hospital who had provided so much support already.

A Go Fund Me page to help raise funds for Avi and SMA research is at gofundme.com/little-angel-aviana.