Cystic fibrosis: Emilia is the face of Jeans for Genes day, her parents raising awareness of the disease

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 instincts hinted that something was wrong.

She didn’t sleep, fed constantly, and yet struggled to gain weight.

“Jacqui fed Emilia maybe seven times in the space of three hours. We knew all was not well,” Chris told news.com.au.

“The first two to three weeks before we knew something was wrong, we were using over 40 diapers a day.”

New parents were encouraged to be patient. It wasn’t until they received the results of a heel prick test that they finally received answers.

At about five weeks old, Emilia was diagnosed with cystic fibrosis (CF), an inherited disease 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 diseases.

People with cystic fibrosis develop abnormal amounts of thick mucus in 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 cystic fibrosis.

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

Since most have no symptoms, they don’t know they are carriers, which happened with the Lonsdales.

“In the beginning there was this kind of massive shock value, you know? How does that go down in our little family? But then there was this weird feeling of relief where we now had an answer for know why things were the way they are,” Jacqueline said.

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

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

Jacqueline added: “And when you go through countless diaper bags and there’s a limit on how many you can get and you have to fight tooth and nail to get some, we were like ‘s’ please Emilia, just wait because we can’t have more for a few days”, so yes it is difficult.

Due to the pandemic, Emilia was unable to hold first and second birthday parties due to the risks of having people around her as well as constant blockages.

“Every time we planned it, we either went into a lockdown or there was a massive Covid outbreak again, and we just went ‘okay, like let’s not do that,'” he said. said Jacqueline.

“There are things we thought she would be able to do like go to the local pool, play outside in the dirt and do things that you know you expect from your child, but Emilia can’t and the others Neither do CF children, because there are bacteria that will make them very sick.

Despite two difficult years, Jacqueline and Chris continue to cling to the hope that their daughter’s life won’t be like this forever.

After meeting Associate Professor Leszek Lisowski of the Children’s Medical Research Institute (CMRI) last year, the family was re-energized as they could see that work was being done to find a cure.

“We’ve seen how far she’s come with the treatment…although she has a very busy daily schedule with meds and physio, she can play with friends and I guess has as normal a life as possible. , but that’s only because the medicine keeps him healthy,” Chris said.

“We just hope there will be a day when she doesn’t need to take medication just to get better.”

On Saturday, Emilia met 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 that the cold may be enough to send her to the hospital, so for us, I guess we just had to be extra vigilant,” Chris said. .

“It’s tough when you sit down and her cousins ​​sit on the table and then dive right into the food and you have to be wary that she has to take medicine before she even looks or touches it. the food.”

Emilia’s parents said their story motivated 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 that’s really our motivation. We would hate for anyone else to be in that position” , said Jacqueline.

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

“We are very lucky with something like cystic fibrosis, there are known things about it and we go to the clinic quite regularly, so we have this support network within the clinic,” Jacqueline said.

“But we know that it’s one of those genetic diseases that has been detected and there’s a lot of research going into it and there’s still a lot to be done. But we still have to find those effective treatments and cures and until until this happens, no one can rest.

Friday’s Jeans for Genes Day is the primary fundraiser for CMRI.

“Jeans for Genes for us is hope,” Chris said. “The reason it’s hopeful is because we’re at a stage where research is making leaps and bounds, especially in the area of ​​genetics.”

“We want to work with Jeans for Genes to make genetic diseases 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