A Plainfield mom was the first Riley patient to take Trikafta while pregnant to help her daughter, who was diagnosed with CF before birth. Both are doing well today.
By Maureen Gilmer, Riley Children’s Health senior writer, mgilmer1@iuhealth.org
Six-month-old Piper Norris doesn’t yet know how special she is.
The second child of Matt and Shelby Norris of Plainfield was born with cystic fibrosis (CF), but her story starts well before birth.
Piper was the first child at Riley Children’s Health to be treated in utero with a drug (Trikafta) that Shelby Norris took to reduce CF complications for her baby at birth.
CF is a genetic disorder that causes thick, sticky mucus to build up in the lungs, pancreas and other organs, leading to breathing and digestive problems. It's inherited through a mutated gene, and while there's no cure, treatments can help manage symptoms and improve quality of life.
Trikafta, approved by the FDA in 2019, treats the genetic mutation causing CF, not only improving symptoms but slowing the progression of the disease.
Though officially approved for ages 2 and older, a Riley Fetal Center multidisciplinary team was able to advocate for the Norris family to receive in-utero therapy for CF, allowing Shelby, who does not have CF, to begin taking the drug while pregnant. Piper was then approved for her own prescription as the team guided them through the insurance authorization process.
It wasn’t easy by any means. But Shelby, a veterinarian, was relentless in her pursuit of information regarding Trikafta in pregnancy and found partners at Riley who were willing to listen.
Dr. Hiba Mustafa, director of fetal surgery, coordinated the team meeting to discuss offering this innovative fetal therapy. The team also included Dr. Don Sanders, a pulmonologist and director of Riley’s CF Center; Dr. Cynthia Brown, director of the adult cystic fibrosis program at IU Health; Dr. Mindy Markham, neonatology; Karrie Theoharis, genetic counselor; the pharmacy team and a host of others.
The team meeting included a thorough review of the available literature and other centers’ experiences, and a decision was made to start offering this therapy in the hope of reducing CF-related bowel complications in infants.
“I would be the first patient at Riley (that did not have CF themselves) to take Trikafta for their unborn baby with CF,” Shelby said, recalling her journey last year.
“There were many unknowns since this is still a very new protocol … however there was never any hesitation in my mind because I wanted to do anything I could to help my daughter as well as any other families that find themselves in this situation. We all can never grow and learn if we aren’t willing to take risks for those we love and beyond.”
Dr. Mustafa said the Norris family’s story “highlights the profound impact of genetic screening during pregnancy, allowing early detection of conditions like cystic fibrosis.”
“With groundbreaking in-utero therapies like Trikafta, we now have a window of hope — offering treatment even before birth,” she added. “While data on these interventions is still emerging, every case contributes to building the evidence we need. The more data we gather, the stronger our case for making these life-changing therapies accessible, cost-effective, and covered by insurance as a standard of care."
For Shelby and her husband, taking Trikafta was a low-risk, high-reward option.
“After starting Trikafta, I was seen by Dr. Mustafa and her colleagues at the Riley Fetal Center to continue monitoring our girl in utero for any complications,” said Shelby, who was also seen by Dr. Brown in the adult CF clinic to ensure she wasn’t suffering any adverse reactions from the drug.
Multiple ultrasounds of baby Piper over several weeks revealed that her bowel issues (common in CF babies) had resolved.
“Our perfect Piper (6 pounds, 18½ inches) was born with no signs of meconium ileus (bowel obstruction), no need for bowel surgery, no NICU stay and no side effects from the Trikafta,” Shelby said.
“She was unfortunately found to be pancreatic-insufficient, but this is something that is manageable and may change in the future.”
Dr. Sanders continues to monitor Piper’s health as she takes the drug.
He and his team worked with the Riley Fetal Center and all the other teams mentioned above to determine the best options for Shelby and Piper after consulting with CF teams across the nation.
“We want to be there to support them,” Dr. Sanders said, adding, “This is a new opportunity for us. We only have case reports, so we’re not sure how much benefit there will be … but most parents in this situation want to do something if they can, and part of my job is to work through that decision-making process with them.”
Life expectancy for a baby born today with CF is about 60 years, which is much improved from previous decades, but there is still a high risk for hospitalizations due to respiratory issues, Dr. Sanders said.
“About 20 percent of people with CF can suffer bowel obstructions, which can lead to further complications and surgery. With newborn screening now (and prenatal testing when requested), we have early diagnosis and can avoid some complications that can lead to worse outcomes.”
While Piper is not cured, the hope is that the medication she is taking will improve her overall health until even better treatments or a cure are found.
“Trikafta has been a fantastic medication for (CF patients),” Dr. Sanders said, pointing to improvements in lung function, reduced hospitalizations and better growth and nutrition.
As director of fetal surgery, Dr. Mustafa said her job is to think outside the box when it comes to caring for unborn babies and their moms, rather than waiting until a baby is born to address a health issue.
“That kind of thinking was important for this family. We started with a multidisciplinary meeting with the CF clinic, maternal-fetal medicine, neonatology, critical care, nursing, pediatrics, pharmacy ... We reviewed the literature and case reports from around the country, we talked with our colleagues elsewhere, and we thought this approach has enough promise that we can start it for select candidates,” she said.
Still, it’s hard to say how much this innovative therapy will change Piper’s life, Dr. Mustafa cautioned.
“We know it improves bowel function for these babies, but for long-term outcomes we need more babies to look at and decide if this is truly helpful. That’s why there is a registry being built … to look at imaging, outcomes and findings to see if this is truly as promising as we hope it is.”
Shelby is just grateful to the Riley team for listening to her and advocating for her family every step of the process.
During a recent visit to Riley, she and her husband, along with Piper and Piper’s big brother, Elliott, reunited with both Dr. Sanders and Dr. Mustafa.
“She’s so cute,” Dr. Mustafa said, as she cuddled Piper. “Her eyes are so beautiful.”
This journey has been stressful, Shelby acknowledged, with a lot of appointments and a lot of unknowns. But their goal in sharing their story is to help other families dealing with a CF diagnosis.
“If you dig, the information is there, but we want to make it more accessible so others can be helped by it,” she said.
“We are so incredibly thankful to our team at Riley for the safe and healthy arrival of our Piper Laine. We advocated for her fiercely, and all of the teams were and continue to be right there every step of the way with unwavering support.
“It’s easy to get down and lose faith, but things are changing,” Shelby added. “Our daughter is going to know a very different CF than those before her, and that’s so encouraging.”
Photos submitted and by Mike Dickbernd, IU Health visual journalist, mdickbernd@iuhealth.org
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