From toys to parental attention, siblings share a lot of things in life. For Aria (10) and Jack (7) Hespell, the list of things they share includes cystic fibrosis (CF) – a rare, inherited disease that can result in persistent lung infections, destruction of the pancreas, and complications in other organs.
Finding out about CF
With no known familial history of CF for either Adelina or her husband, Brandon, having a child with this genetic disease wasn’t on the Hespells’ radar. That is until Adelina discovered she was a carrier of the CF gene while she was pregnant with Aria. Brandon then got tested, revealing he was also a carrier of the CF gene.
“CF is inherited, which means it is passed down from parent to child through the genes,” says Jennifer Logan, MD, pediatric pulmonologist with Lehigh Valley Reilly Children’s Hospital. “For an individual to have CF, they must inherit two mutated CF genes – one from each parent. If both parents are carriers, there’s a 1 in 4 chance their child will have CF.”
The Hespells decided to move forward with an amniocentesis test to see whether Aria was affected. Despite the odds, Aria tested positive for CF.
Aria’s arrival
When Aria arrived, the Hespells were both overjoyed and terrified as they navigated caring for a newborn with CF – which Adelina says “was particularly scary as people with CF are more susceptible to complications, so a simple cold could turn into something really nasty for them.” As Aria grew from an infant to a toddler, “there were little hiccups here and there, but for the most part, she was a healthy kid.”
Jack’s journey begins
As CF carriers, the Hespells had a 1 in 4 chance that any additional child could be born with CF but a more optimistic 3 in 4 chance that a child would be born without CF or as a CF carrier without symptoms of the condition.
While pregnant with their son Jack, the Hespells chose to wait until he was born to find out if he, too, would have CF. Despite the odds being in their favor, when Jack arrived, he tested positive for CF.
Adelina took Jack’s diagnosis harder than she thought she would. “The odds of having two children with cystic fibrosis were slim, and it took me a while to grieve the news,” Adelina says. But through support, she was able to find acceptance and strength.
Finding support
“CF can be a very isolating disease, but it’s a disease that needs support,” Adelina says. “Getting involved and fundraising for the Cystic Fibrosis Foundation’s (CFF) Great Strides events really helped our family navigate this new reality for us. Fundraising gives us a sense of power in a helpless situation and gives us purpose.”
The Hespells have participated in Great Strides every year since Aria was born. Over the last 10 years, their team has raised over $100,000 and counting.
Treating an uncurable disease
While there is no cure for CF at this time, there are both clinical and at-home treatments available.
The Lehigh Valley Cystic Fibrosis Center at Lehigh Valley Reilly Children’s Hospital has cared for Aria and Jack from day one. The siblings’ extensive treatment plan consists of returning to the CF center every three months for 3.5 hours of treatment.
To maintain their best possible health, the siblings also have a daily at-home treatment regimen consisting of taking inhaled medications twice a day and chest physiotherapy for 20 minutes twice a day. With chest physiotherapy, the siblings have to wear a vest designed to shake up the mucus they may have in their chest and help them expel it.
“CF is an everyday battle for Aria and Jack,” Adelina says. “Their at-home treatment is a daily regimen that they have to do every single day, no exceptions. That includes holidays, birthdays, special events – there are no days off with their treatment.”
Aria and Jack also take Trikafta, one of several highly effective modulator therapies (HEMT) available for people with CF. “HEMT medications, like Trikafta, are the first medications that work to correct the underlying problem with CF to effectively improve the lives of people with CF,” Dr. Logan says.
Because of the CFF’s continuous investment in finding a complete cure, Dr. Logan says, “so many people with CF are now healthier than ever” and that with new therapies on the horizon, “the future looks very bright for people with CF.”
Raising awareness while hoping for a cure
Despite a few instances, both kids have maintained a very healthy life.
“We feel really grateful for where we are today – thanks to the Lehigh Valley Cystic Fibrosis Center at Lehigh Valley Reilly Children’s Hospital,” Adelina says. “With the extensive treatment CF requires, your CF care team really becomes part of your orbit.”
Aria has really taken an interest in being an advocate for CF because she feels it’s important to put a face to CF. She’s starting by spreading awareness among her classmates. This past school year, Aria brought in a book about CF to read to her class and then answered questions afterward.
