Parents reveal the challenges of raising a child with cystic fibrosis and what you can do to help

Doing the things most kids take for granted poses a deadly risk for little Emilia. So much so she has never been able to have a birthday party.

First-time parents Jacqueline and Chris Lonsdale knew the birth of their daughter would change their lives forever – but not in the way they expected.

From the moment Emilia was born on January 25, 2020, parental instinct hinted that something wasn’t right.

She wasn’t sleeping, was constantly feeding and yet struggled to gain weight.

“Jacqui was feeding Emilia maybe seven times in the space of three hours. We knew that not everything was OK,” Chris told news.com.au.

“The first two-to-three weeks before we knew something was wrong, we were going through 40-plus nappies a day.”

The new parents were encouraged to be patient. It wasn’t until they received the results from a heel-prick test that they finally received some answers.

At around five weeks, Emilia was diagnosed with cystic fibrosis (CF), an inherited condition that affects the lungs and digestive system.

Now, she’s the promotional face of Friday’s Jeans for Genes Day, a major fundraiser to help find cures and treatments for genetic conditions.

Chris and Jacqueline with Emilia as a baby. Picture: Supplied

Those with CF develop abnormal amounts of thick mucus within the lungs, airways and digestive system. As a result, digestive functions are impaired and bacteria can get trapped in the lungs. There is currently no cure for CF.

One in 2500 babies are born with CF in Australia and one in 25 people carry the CF gene.

As most show no symptoms, they’re unaware they’re carriers which is what happened with the Lonsdales.

“At first there was this massive kind of shock value, you know? How’s this happening to our little family? But then there was this weird sensation of relief where we now had an answer for why things were the way they are,” Jacqueline said.

To make an already challenging situation worse, Emilia was born at the beginning of the pandemic and being immunocompromised, her parents had to be extra vigilant.

“Navigating (Emilia’s) first few weeks of life and then having to, I guess, essentially shut the doors and have no support was really hard,” Chris said.

Jacqueline added: “And when you’re going through countless bags of nappies and there’s a limit on how many you can get and you’re needing to fight tooth and nail to get some, we were like ‘please Emilia, just hold on because we can’t get any more for another few days’, so yeah it’s tough.”

Little Emilia is one of many faces of the 2022 Jeans for Genes day. Picture: Supplied

Due to the pandemic, Emilia was unable to have first and second birthday parties because of the risks that came with having people around her as well as constant lockdowns.

“Every time we planned it we’ve either gone into a lockdown or there’s been some massive outbreak of Covid again, and we’ve just gone ‘okay, like let’s not do this’,” Jacqueline said.

“There are things that we thought she’d be able to do like go in the local pool, play outside in the dirt and do things that you know you expect your child to do, but Emilia can’t and neither can other CF children because there’s bacteria that’s going to make them very sick.”

Despite a challenging two years, Jacqueline and Chris continue to hold onto to hope that their daughter’s life may not be like this forever.

After meeting with Associate Professor Leszek Lisowski from the Children’s Medical Research Institute (CMRI) last year, the family regained motivation as they could see that work was being done with the aim of finding a cure.

“We’ve seen how far she’s come with the treatment … although she has a really heavy daily schedule with medicines and physio, she gets to play with friends and, I guess, has as normal a life as she can, but that’s only because the medication is keeping it healthy,” Chris said.

“We’re just hopeful that there’ll be a day where she doesn’t need to take medication just to improve.”

On Saturday, Emilia met with a large group of people for the first time at a CMRI fundraiser, but it didn’t come without her parents feeling a pang of anxiety.

“The risk for her, because her condition impacts the lungs, is the common cold can be enough to put her in hospital, so for us I guess we just had to be extra vigilant,” Chris said.

“It’s hard when you sit down and her cousins are sitting on the table and then diving straight into the food and you have to be wary that she has to have medication before she even looks at or touches food.”

Chris and Jacqueline with Emilia at their Jeans for Genes Day fundraiser on Saturday. Picture: Supplied

Emilia’s parents said their story has motivated their friends and relatives, who are looking to start a family, to get tested for the gene.

“They say in life everything happens for a reason and I think Emilia was born into our little family for a reason and it’s very much our motivation. We would hate anyone else to be in this position,” Jacqueline said.

As for those who do have children with CF, Jacqueline and Chris said having a support network will go a long way in helping families.

“We’re very lucky with something like cystic fibrosis that there’s stuff known about it and we attend the clinic quite regularly so we have that support network within the clinic,” Jacqueline said.

“But we know that that’s one of those genetic conditions that has been picked up and a lot of research is going into it and there is still a lot more that needs to be done. But we still need to find those effective treatments and cures for it and until that happens no one can rest.”

A very happy Emilia posing for her Jeans for Genes Day photo shoot. Picture: Supplied

Jeans for Genes Day on Friday is the main fundraiser for the CMRI.

“Jeans for Genes for us is hope,’’ Chris said. “The reason it’s hope is because we’re at a stage where research is making leaps and bounds, particularly in the genetic field.”

“We want to work with Jeans for Genes so that genetic conditions can be a thing of the past.’’

Donate at fundraise.jeansforgenes.org.au.

Originally published as Parents reveal the challenges of raising a child with cystic fibrosis and what you can do to help