Alessia was just four weeks old when she made Australian medical history - twice

When Sydney couple Adriana and Adam Sharpe welcomed their first child, they had no way of knowing she would go on to make history, not once, but twice, by the time she was four weeks old.

After a textbook pregnancy and delivery, Alessia underwent the usual newborn health screenings, including a newborn bloodspot screening test, also known as a heel prick test.

"I didn't really know much about it, being my first child. They just gave up a pamphlet and said it's just a routine test," Adriana told 9honey.

Seventeen days before her birth on August 18, 2018, three more conditions had been added to the screening test in NSW, including spinal muscular atrophy (SMA).

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"When she was 13 days old, we received a call from the paediatrician that was on shift when she was born," she said.

Soon after receiving the call telling them Alessia had tested positive to SMA they received another call, this time from Sydney Children's Hospital at Randwick, asking them to come in.

"I said, 'Do you want us to come tomorrow?' and they said, 'Come in straight away'," Adriana recalled.

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"When we got there, we were taken into a room where a neurologist, a genetic counsellor and a social worker were waiting."

Alessia's shocked parents were told she had the most serious type of SMA – a rare genetic condition that affects the motor neurons – the nerves in the spinal cord that control muscle movement.

As the muscles stop receiving signals, they waste away. Babies with the most serious form of the condition will not reach their normal milestones, and eventually lose the ability to swallow and breathe, before dying between 18 months and two years if untreated.

"We were just devastated. Our whole world just crumbled," Adriana said.

"I just kept asking, 'Are you sure?'"

Alessia's was the first case picked up after screening was introduced in NSW. Up until then, babies were not diagnosed until they started showing symptoms, such as poor muscle tone or floppiness, or started missing developmental milestones.

The family was told the only treatment at the time was medication delivered straight into Alessia's spine via a lumbar puncture up to four times a year, but this was not as effective in children with her subtype.

They were also told about a new clinical trial of gene therapy that had just begun in the US and was about to be offered in Australia.

If they agreed to be part of the new trial and tests showed she was eligible, Alessia would be the first baby in Australia to undergo the treatment.

With the clock ticking – once a child loses function due to SMA it can never be recovered – they immediately agreed.

"It was a Friday and they insisted we take the weekend to think about it. On the Monday we said, 'Yes'."

Gene therapy is a way of introducing an absent or faulty gene to the body using a virus. Both Alessia and Adriana had to undergo tests to make sure they were not immune to the virus used in the treatment before getting the green light.

"From that first meeting, it was two weeks later she received the treatment," Adriana said.

"They moved heaven and earth to get it done."

Being so tiny, the only place they could place the IV for the treatment was in her head. She slept through the one-hour infusion and spent just one night in hospital before the family went home.

At first, they went back to hospital daily for monitoring and check-ups.

Adriana recalls the uncertainty around what was then an experimental treatment.

"She was the first child outside North America and there were a lot of uncertainties around it," she says.

"We did not know if the treatment was going to work. It was just a gut instinct."

The couple anxiously waited to see if she reached milestones.

"Things like lifting her head up to support her weight, then being able to sit up, all those gross motor skills."

Alessia met all her milestones, albeit a little later than other children, and today there is hardly any sign of the condition, that left untreated, would have claimed her life by now.

"She does have a little bit of weakness in her legs and hips. You can see when she is running she is a little slower than her peers."

Alessia, who turns seven this month, is one of the faces of this year's Jeans for Genes Day on August 7.

Jeans for Genes is one of Australia's oldest charities and raises funds to support the work of Children's Medical Research Institute (CMRI) so scientists can look to cure genetic conditions affecting children.

CMRI Gene Therapy Research Unit head Professor Ian Alexander was involved in the introduction of the SMA heel prick test in NSW and the gene therapy trial coming to Australia.

He and his team are now working on the next generation of gene therapies to improve the technology and hopefully treat other conditions.

"The majority of my career has been about the possibility of being able to treat children in the future and now the field has got to the point where that is possible and it's incredibly exciting,'' Professor Alexander said.

SMA is just one of a number of genetic conditions that parents can pass to their children, often unknowingly.

Both Adriana and Adam later learned they were carriers of the condition and have a one-in-four chance of having another baby with SMA.

They went on to have a second daughter, Emilia, who was conceived naturally and underwent screening at birth that showed she did not have the condition.

Adriana said she and Adam were thankful Alessia's condition was picked up and treated when it was.

"If she was just born three weeks earlier it would have been different," she said.

"Ten years ago, if you were given the diagnosis of SMA for your child, it was a death sentence.

"You were told to go home and to love your child because they will not reach their second birthday, if you were lucky."

She called on Aussies to support Jeans for Genes Day.

"This is our way of giving thanks," she said. "We really want everyone to support this cause because we have seen the amazing work and the incredible outcome from it.

"Even in the SMA space, they are now looking at treatment for those kids who can't have gene therapy."

From 8am today, every donation to the charity's website will be doubled by sponsors including Lowes. Donate at jeansforgenes.org.au

The information in this article relates to one individual's experience and should not be taken as general medical advice. Please consult a healthcare professional for medical advice that is tailored to your health.

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