Not long after she was born, Lily was diagnosed with sickle cell disease.

A group of inherited blood disorders affecting the shape and behavior of red blood cells, sickle cell disease tends to be characterized by anemia, pain and a whole host of other complications.

By the time she was 3 years old, Lily and her mom Junie were still coming to terms with the condition and those many complications, just as they – or more specifically, Junie – were still seeking the kind of treatment that felt like it might make a real difference.

Now, following years of care at Children's Hospital of Philadelphia (CHOP), including groundbreaking gene therapy delivered through a clinical trial, 11-year-old Lily continues to not only grow and gain but thrive.

Health maintenance and coming to CHOP

Health maintenance is a term often associated with sickle cell disease.

Consistent long-term medical planning is required to manage the condition and its various painful complications, also known as vaso-occlusive crises (VOCs).

Children up to 2 years old require doctor visits every few months. Children older than 2 will see a doctor every three to four months. And all children living with sickle cell disease will need additional immunizations and consistent blood tests to monitor cell counts. The list of required maintenance, much like the list of complications, is a long one.

For most of her life, every single fever Lily's ever had required a hospital visit, "to make sure it's not bacterial," Junie explained, a product of a compromised immune system.

That meant hospital visits weren't just normal for Lily; they were incredibly common.

Junie, of course, learned what to look for when it came to treatment – both care and clinical empathy – so, when the New Jersey-based hematologist Lily had been working with left, Junie knew it was time to broaden her search.

Philadelphia remained over an hour away though, meaning that when Lily had an "acute event," like she did at age five, the family first went to the local emergency room.

"Splenic sequestration," a common symptom of sickle cell disease and one Lily suffered consistently, can be potentially life-threatening due to the associated anemia.

As a result of this VOC event, Lily was forced to have her spleen removed.

Difficult though it was, the experience firmly "solidified our decision to go to CHOP," Junie said.

CHOP seeks answers to sickle cell

In January 2022, Lily caught the flu.

7 years old at the time, Lily soon had difficulty breathing, Junie and Lily making the trip to CHOP's emergency department a total of four times that week.

So, when Junie received a call from a CHOP nurse just days after, she assumed they were simply checking up on Lily, who also has asthma.

As it turns out, it was a clinical trial for potentially curative gene therapy for sickle cell disease, led by CHOP experts.

"I still remember the emotions that day," said Junie. "Very surprised, kind of excited, scared at the same time as well, too."

Kim Smith-Whitley, MD, had become a lifeline for Junie within CHOP's Division of Hematology. When the clinical trial was proposed, the family met immediately with Dr. Smith-Whitley to discuss Lily's prospects.

Lily, of course, was already on a bone marrow transplant list, what experts considered for a long time to be the only certain cure for sickle cell disease.

But a transplant was no sure thing, requiring a donor within a certain timeframe.

This clinical trial held the potential promise of something else.

Something better.

"Lily is very articulate. Like, she will talk about everything and tell you the pros and cons and what she thinks about it," Junie said. "So, she was like, 'This is scary, but the idea of having a cure is so exciting.'"

Lily joins groundbreaking clinical trial

The "risk" of Lily joining the trial weighed heavily on the rest of the family as well.

"There's risk of her having the sickle cell and just going about her day-to-day life, right? But then the benefit of, wow, she could potentially lead an almost normal life," said Junie.

The family ultimately made the decision to take part, Lily immediately coming off hydroxyurea, a medicine she had taken since she was nine months old. To compensate for increased anemia, Lily was given blood transfusions every month.

A pair of in-patient procedures retrieved enough of Lily's stem cells to complete the eventual procedure. The cells were then altered in a laboratory setting, removing the problematic genes, to later be placed back into Lily's body.

This was completed through CHOP’s Cellular Therapy and Transplant Section (CTTS), a world-renowned program specializing in blood and marrow transplantation for children with severe illnesses, alongside the expert CHOP apheresis team.

And in August 2023, Lily was admitted to the Blood and Marrow Transplant (BMT) unit at CHOP, immediately undergoing four days of intensive chemotherapy to "empty out her bone marrow," per Junie.

On August 27, about two weeks into the trial, Lily's cell lines finally dropped enough that she could be given her altered stem cells back.

"It was so anticlimactic," Junie said, laughing lightly.

From there, it was "daily lab watching," as Junie put it, supporting Lily through the many physical side effects of the treatment and subsequent transfusions.

Fortunately, CHOP offers all manner of activities for kids like Lily, including incentives for kids to get up and move.

"They have a great system as far as rewarding a kid for not just sitting in bed all day and potentially getting sicker," said Junie.

CHOP also offers teacher access for children who are in the hospital long-term, though Lily's school district was able to tutor her virtually.

Lily's stay for the clinical trial lasted five weeks, an additional two spent at the Ronald McDonald House with her parents, regularly returning to CHOP for check-ins.

Looking back, Junie is stunned by the care Lily – and the family – received, whether from CHOP's "excellent" child life specialists to the psychologists who worked specifically with bone marrow transplant families, to all the nurses and doctors and other professionals who helped them in ways large and small.

Lily, Junie, sickle cell patients excited for the future

Following rigorous clinical trials like the one Lily participated in, the Food and Drug Administration (FDA)  approved CASGEVY™ (exagamglogene autotemcel) for the treatment of sickle cell disease in patients two years and older with recurrent VOCs.

Lily, who has a chronic kidney injury as part of her lasting complications from sickle cell, isn't daunted by much these days, mostly taking pride in the fact that she was part of something that might help other kids in the future.

"'I want people to know about the process that I went through, and I want them to know that they can do it," Junie said, describing Lily's perspective.

Lily continued virtual tutoring for a time, unable to get any vaccines until at least six months from the transplant date.

"And she had to be tested to make sure that her immune system would respond appropriately to be able to get the vaccines and to be able to mount the appropriate immune response," said Junie.

In May 2024, after years of pain and frustration and the journey to and through treatment, Lily finally returned to school alongside her friends.

Though, technically, she's still taking part in the trial, even now.

"They'll follow her, I think, all the way until she's 18 years old."

Most importantly, Lily's had almost no issues.

And despite joining a running club and even starting basketball this past winter, since the transplant, she hasn't once been admitted to the hospital for an "acute event."