A 10-year-old Parker girl’s disease is one in a million, and advancements in her lifetime made all the difference

Juliette Picard, 10, loves drawing animals, playing Minecraft and hanging out with her dog. 

The Parker fourth-grader also has a blood disease so rare that only one in a million people are affected, and she is now one of 33 children in the world testing a new drug that means she can spend more days at school with her friends. 

A huge leap in medical advances to treat the disease — called atypical hemolytic uremic syndrome, or aHUS — has occurred in little more than the time Juliette has been alive. And it has made the difference between life and death. 

Before there was a drug to treat it, a diagnosis of aHUS meant the patient had a 60% chance of death or permanent kidney dialysis within the year, said Dr. Bradley Dixon, head of the nephrology department at Children’s Hospital Colorado and a professor at the University of Colorado School of Medicine. Juliette’s recovery is a reflection of just how far precision medicine, which uses genetic sequencing to pinpoint the cause and treatment of disease, and pharmaceutical discoveries that target specific proteins in the bloodstream or specific cells in the body have evolved in recent years.

Juliette’s disease causes the body to attack its own organs. 

The body’s immune system, once it starts attacking foreign invaders, can’t stop. The problem is in what’s called the complement system, which includes a series of about 50 proteins that are embedded on the surface of cells or circulate through the bloodstream. These proteins work like a set of dominoes — attacking one after the next — when they encounter a bacteria, fungus or other microorganism. 

This is normally a good thing, because the complement system is the body’s first defense against infection — a natural response and not one the body created in response to a vaccination. 

But in patients with aHUS, the killing power of the proteins runs out of control, attacking a patient’s organs, including the kidneys, heart and brain.

For Juliette, it was strep throat when she was 3 years old that ignited the attack against her own body. 

Until then, her parents had no idea she had the disease, which was caused by a defect in one of the proteins in her complement system. This complement system turned on to fight off the strep, and it didn’t stop. 

“It ran out of control, causing organ damage in a variety of organs, including her kidneys,” Dixon said. “It caused her red blood cells to be destroyed and the platelets to be destroyed, the result of that complement system running amok.”

Juliette’s mom, Erica Picard, recalled how her daughter kept getting sicker, even though she was taking antibiotics for the strep throat. “The symptoms really just kind of came on that weekend, like she stopped eating or drinking anything,” Picard said. “She was super lethargic. She was just so tired and would just lay on the couch and was just kind of like a zombie. But we hadn’t seen anything before that. She was totally fine, up until she had strep throat.”

Their pediatrician was alarmed at Juliette’s low red blood cell count, and recommended the family go to Children’s Hospital. 

The pediatrician specifically recommended that Juliette see Dr. Dixon, because — in what Picard considers more than just a coincidence — the pediatrician had recently attended a talk that Dixon gave about a rare disease. The disease was aHUS.

“What she has is so incredibly rare,” Picard said. “I always say the universe, somebody was looking out for us.” 

Juliette saw Dixon the day after she was admitted to the hospital and was quickly diagnosed with aHUS. “And it just so happened that we had started a clinical trial of a new drug being developed for this disease,” Dixon said. 

One of 18 patients in the world

The first drug to treat aHUS came out in 2011, a “game-changer” that for the first time meant people weren’t expected to die within a year of diagnosis. Before the drug, aHUS would destroy the kidneys, and there was no point in a kidney transplant because the disease would destroy the transplanted kidneys too. 

But the drug — called eculizumab — wasn’t easy to take, especially for kids. 

It came as an IV infusion every two weeks. Patients had to come to the hospital for every infusion, which lasted a few hours.

The new drug that was in trial when Juliette was diagnosed was a derivative of that first drug, one that lasts much longer in the body and allows patients to stretch the amount of time between IV treatments. Juliette only needed to come to the hospital every eight weeks. 

She was one of 18 patients in the world enrolled in the study. Children’s Hospital was tied for the most patients enrolled worldwide with two patients, Juliette and one other. 

“She responded beautifully to the medication,” Dixon said. “It turned off the signs of organ dysfunction. Her kidneys showed recovery. Her platelets and red blood cells showed recovery.” 

Juliette stayed on the medication even after the trial ended. Since her disease is caused by a genetic problem, stopping the medication could allow the disease to wake up again. 

The drug is an antibody that binds to the protein and takes away its power to attack infection, which means patients lose the ability to fight off certain infections, including meningitis. Patients must get vaccinations against meningitis and in some cases, preventative antibiotics.

Another clinical trial leads to at-home treatment

This year, drug treatment for aHUS advanced again. 

The new drug, another antibody that binds to the malfunctioning protein in the complement system, is an injection — not an infusion. It’s a shot under the skin that patients, or their parents, can give at home. 

Juliette is one of 20 children worldwide who switched to the injectable drug, called crovalimab, from the infusion. In addition, there are 13 children, including one at Children’s, who were recently diagnosed with aHUS, had not been taking the previous drug and are now taking crovalimab. That’s a total of 33 children in the world on the drug.

Juliette’s parents give her two shots once a month, in her stomach, at their house. Now she only has to go to Children’s to get checked out every four months, which means fewer days when she has to leave school and spend half the day at Children’s getting an infusion.

The only downside: She misses out on getting the ice cream from the hospital cafeteria, and riding in the glass elevators that carry her up from the lobby. Also, the shots at home kinda hurt, but they are quick, she said.

“I really don’t like how the shots feel when they inject medicine into my stomach, and then when it’s out, I’m like, ‘Yay!’” Juliette said.

“The shots take five minutes to do the whole thing,” her mom said. “We’ve already gotten so much time back in life. It’s definitely better than it was, and hopefully down the road, it will be even easier.” 

The Picards are hopeful that Juliette will get to take part in yet another clinical trial, next time for an oral medication. 

So far, their insurance, through Tricare because Picard’s husband is in the U.S. Air Force, has covered the cost of Juliette’s care. And enrolling in trials means the medication comes at no cost to the patient — which is important since the cost of one infusion, the kind Juliette used to get six times per year, was about $200,000, Picard said. 

For the Picards, it’s hard to think about the fact that without the last decade or so in pharmaceutical advancements, Juliette’s outcome would look much different.

“The hope is that one day down the road, it will keep evolving, and maybe she will have a pill form,” Picard said. “They’re always working on new things.” 

The trial Juliette is enrolled in is one of more than 1,200 research studies ongoing at Children’s, which had more than 7,000 patients enrolled in research in 2023. Studies can have even just one patient, and range from “registries,” in which the point is just to track and study a disease, to studies that test the safety and efficacy of new drugs.

Besides the drug trials, Juliette was helped by the quick diagnosis of a disease that is sometimes missed by doctors because it’s so rare, and by the precision medicine team at Children’s, which uses genetic testing and research from across the world to come up with tailored responses to treat diseases. In Juliette’s case, genetic testing helped determine which protein was not working properly and how much medicine she needed to fix it.

“Precision medicine has allowed us to even take a rare disease like aHUS and tease apart how some patients may need to be treated differently than others,” Dixon said. “It’s a very exciting time.”