Siblings, Aria and Jack, fight through rare, inherited disease with no cure
From toys to parental attention, siblings share a lot of things in life. For Aria and Jack Hespell, ages 10 and 7, 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.
When starting a family, there are a lot of “what ifs” that cross parents’ minds. For Adelina and Brandon Hespell, having a child with cystic fibrosis wasn’t a worry that even crossed their minds since there was no known familial history of this genetic disease for either of them. It wasn’t until Adelina found out she was a carrier of the CF gene while she was pregnant with Aria that worry crept in. When Brandon tested positive as a carrier of the CF gene as well, the concern turned into a possibility.
“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 that their child will have CF.”
With only a vague understanding of what CF was at the time, the Hespells decided to move forward with an amniocentesis test to see whether Aria was affected. Despite the odds, the amniocentesis test revealed that Aria tested positive for CF.
“To say we were terrified was an understatement,” Adelina says. “Our whole world came crashing down.”
With basic knowledge of what CF is, Adelina spent countless hours researching CF. “There are so many scary things on the internet out there about CF. It was one scary thing after another.” With the varying degrees of impact CF can have and not knowing what degree Aria would have, Adelina chose to prepare herself for the worst.
When Aria arrived, the Hespells were both overjoyed and terrified as they navigated caring for a newborn with CF.
“Having a newborn with CF was particularly scary,” Adelina says. “People with CF are more susceptible to complications, so a simple cold could turn into something really nasty for someone with CF.”
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.”
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 their son 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 awhile to grieve the news,” Adelina says. But through support, she was able to find acceptance and strength.
“CF can be a very isolating disease,” Adelina says. “But it’s a disease that needs support. What really helped our family navigate this new reality for us was getting involved and fundraising for the Cystic Fibrosis Foundation’s (CFF) Great Strides events. Fundraising gives us a sense of power in a helpless situation and gives us purpose.”
The Hespells have been participating in Great Strides every year since Aria was born. Over the last 10 years, their team has raised over $100,000 and counting.
In addition to fundraising, Adelina also sits on the board of the CFF’s Delaware Valley Chapter – Lehigh Valley Office.
There is no cure for cystic fibrosis at this time. However, 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 are currently receiving care from Dr. Logan, who the Hespells say is “wonderful.” “We know our children are in good hands with Dr. Logan and we really appreciate her,” Adelina says.
Aria and Jack’s extensive treatment plan consists of the siblings 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 that consists of taking inhaled medications two times a day as well as chest physiotherapy for 20 minutes, twice a day. With chest physiotherapy, the siblings have to wear a vest that’s designed to shake up the mucus that 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 both take Trikafta, a gene modifier therapy, which Adelina believes is “really transforming how we think about CF.” And with the positive impact this gene modifier drug has had, the Hespells feel incredibly fortunate for this medical advancement and others that have been made over the last 11 years.
“Trikafta is one of several highly effective modulator therapies (HEMT) that we now have available for people with CF,” Dr. Logan says. “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.”
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.”
“We see the difference CFF is having with the medications and treatments that are available today that weren’t around when Aria was born,” Adelina says.
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.
As Aria explained to her mother, “I want to advocate for CF, not only to normalize CF, but to remove the stigma for all kids who are dealing with a disease or some kind of challenge.”
