When Juliette was 3 years old, she came down with a case of strep throat. For most kids, a round of antibiotics is all it takes to kick the illness. But instead of getting better, she just got worse.
Juliette and her mother Erica visited the family’s pediatrician, who ran routine labs. The results didn’t look quite right, with startling kidney and red blood cell numbers. Though most doctors might’ve been a bit puzzled by this, Juliette was sent to Children’s Hospital Colorado where she met pediatric nephrologist Bradley Dixon, MD, an expert in an exceptionally rare condition: atypical hemolytic uremic syndrome.
Atypical hemolytic uremic syndrome, or aHUS, affects the body’s complement system (part of the immune system), which targets infectious organisms, such as the bacteria that causes strep throat. Sometimes though, the complement system can get out of hand and target healthy cells. When this happens, built-in brakes pull the system back before it can run wild. In aHUS, these brakes don’t work properly. When triggered by something as simple as strep throat, the unregulated complement system can cause damage across the body, including major organs like the kidneys.
Luckily, Juliette’s doctor was quick to identify the potential for an aHUS diagnosis and referred the family to Dr. Dixon, a leading expert on the condition who happened to be just a short drive away.
Connecting with the right care
“When we originally were admitted to the hospital, Juliette was not yet in kidney failure, but her red blood cell count was so low that she did have to have a blood transfusion,” Erica explains. “We didn't have to do any dialysis, which was great, but that could have been an option had we not gotten there when we did.”
Within just one day under the care of the kidney team, Juliette was on the path to healing, but with such a rare condition, the future of her care was not so simple.
In fact, for decades, an aHUS diagnosis was a death sentence. Even if patients were able to replace a failing organ with a transplant, aHUS would eventually impact the new organ too. But in 2009, the U.S. Food and Drug Administration (FDA) approved a new medicine that changed the game.
The drug, eculizumab, was given by intravenous (IV) infusion every two weeks and put the all-important brakes back on the complement system. But it also required lifelong, twice monthly infusions.
Getting involved with pediatric clinical trials
By another stroke of fate, Juliette’s diagnosis came during a new era of exploration for aHUS. Dr. Dixon was actively recruiting kids with aHUS for a new research study testing a drug called ravulizumab that was designed as a modification of the original treatment. Instead of getting an infusion every two weeks, this medicine allowed patients to go four to eight weeks between them.
“We felt pretty comfortable with it because it wasn't necessarily a new drug,” Erica says. “It was just a new variation of one that was already out there and approved. And for us, when she was so little, the extended period between the dosage really was a big reason why we decided to do it.”
Ever since her enrollment in that clinical trial in 2018, Juliette, who is now 10, has lived life as a happy, healthy little girl who especially loves art — particularly drawing and clay.
But that’s not the end of Juliette’s research journey.
Recently, the Picard family decided to explore a second clinical trial together with Dr. Dixon. The new drug, crovalimab, can be given as a quick injection under the skin rather than an IV infusion, meaning that instead of spending hours at the hospital, Juliette can be in and out in minutes. To top it off, the Children’s Colorado team was able to teach Erica to give the injections to Juliette at home, which means fewer trips to the hospital.
When research improves quality of life
Deciding to join a second clinical trial was easy for Erica and Juliette. After years of working with Dr. Dixon, research coordinators, child life specialists and nurses, the family had built a deep sense of trust.
“I really went with what Dr. Dixon said,” Erica says, noting that the entire team went above and beyond to ensure both her and Juliette were fully informed. “They also had a kid's version [of a consent form] that they read to her, and she had to sign it to say that she understood and that she was willing to participate. We've made sure she knew at any time, it's her body. If she wants to go back [to the original medicine], we will 100% do that.”
In the meantime, Dr. Dixon is working on additional clinical trials that could one day result in Juliette simply taking a pill to manage aHUS, rather than needing injections. Until then, the poke of a needle may not be her favorite, but with a little help from Danger Force and YouTube, Juliette musters through it. And for Erica, participating in a clinical trial has allowed her to not only help other families facing the same challenges, but also help Juliette build a brighter future.
“I'm not really concerned about the disease anymore. I'm more concerned about making sure Juliette can manage this moving forward because at some point, we're not going to be here to take her to the hospital,” Erica says. “I'm always looking for or hoping for the next thing that'll be easier for her down the road. That's really my motivation: to make sure moving forward that she has the best quality of life and can do all the things.”