Ava Langenhop is always sick.

The 9-year-old mother, Alicia Langenhop, told CBS News that she started with “the time she was born.” She will catch any cough or cold. She went to the hospital twice for the virus before she was two months old. Ear infection is constant. The scratched knee turns into a skin infection.

Alicia and Jon Langenhop don't understand what caused it. They think Alicia may bring the disease home in a local daycare. When their second daughter, Olivia, was born, she "followed the same path": constant illness, frequent infections and multiple hospitalizations. Parents said it was difficult.

“It’s a real pressure to try to figure out who’s turn to stay home with the sick kids, and all the different hospital bills and doctor visits,” said Alicia Langenhop. “That was the first three years of having a baby.”

When Ava was three years old, her gums began to get inflamed and bleeding during her brushing. Periodontal doctors recommend Langenhops to test their daughter's autoimmune disease. This is a world that young couples are completely unfamiliar with.

They had to head to Cincinnati, about four hours after they lived in Canton, Ohio, to get a test that confirmed Ava had LAD-1. Rare diseases mean that a person's white blood cells cannot enter the infected site and kill bacteria, making the patient vulnerable.

As Langenhops struggled to understand the diagnosis, they gained even more devastating news: Olivia was only one year old and also suffered from the disease.

What is LAD-1 and how is it usually handled?

According to the basis of immunodeficiency, LAD-1 symptoms begin at birth. Soft tissue infections, slow wounds and gum infections are common. The foundation says that due to frequent illness, the lives of those diagnosed with it “repeatedly severely shortened”. Alicia Langenhop said doctors told them not to do the disease on Google.

According to the immunodeficiency basis, the only corrective treatment for LAD-1 is through bone marrow donation stem cell transplantation. Neither Langenhop’s parents are the exact match for their daughters, because everyone has a disease, so the girls cannot donate to each other. There is also a family possibility: Alicia Langenhop is pregnant. They hope their son can donate bone marrow. But when Landon Langenhop was born in October 2019, tests found that he also had LAD-1.

The mother of the three said the news made the parents "overwhelmed". This also means they must turn to the National Bone Marrow Donor Registration. The kids don't have an exact match, and Langenhops is not happy with the odds.

"The registry game has a 75% success rate. It's not that good with us, because every one of our kids isn't immune to the chance of transplantation." It's not what she and her husband want to hear "talk about their lives."

During the appointment, a member of the Langenhops nursing team mentioned that a doctor in Los Angeles was interested in talking to them about the clinical trial he was helping lead.

"At least, at least for us, it's a effortless person," said Jon Langenhop.

Review of clinical research

Langenhops, who participated in clinical trial testing, developed research therapies developed by rocket drugs. In the trials at three clinical sites, nine patients participated. Due to the rarity of the condition, the group was too small.

Pediatric bone marrow transplant physician Dr. Donald Kohn, who led the trial site at UCLA Mattel Children's Hospital in California, said the therapy essentially allows patients to become their own stem cell donors. Cohen said it was safer than bone marrow donation.

First, patients were given chemotherapy drugs to encourage their stem cells to leave the bone marrow and form and enter the blood. Then, blood is collected and stem cells are separated from blood cells. Stem cells were then transferred to the lab of Rocket Pharmaceuticals.

There, the cells were cultured and injected with viruses with genes missing from LAD-1 patients, Kohn said. The patient received another round of high-dose chemotherapy to eliminate their existing bone marrow stem cells. The new stem cells were then taken back to the hospital and were injected back into the patient through intravenous injection.

Ava is the second person to attend the trial, followed by Olivia and Landon. The family plans to travel between California and Ohio, returning home between treatments, but the shared 19 pandemics have changed that. Instead, they lived in Los Angeles for about nine months. When the children were treated, each child spent about a month in the hospital.

"It's heartbreaking to see them go through it all. Chemotherapy and all of it is painful. Seeing them go through a lot," said Alicia Langenhop. "One of us spent all the time in the hospital with one child and the other child went back to the apartment with two other kids. We felt we had no choice. We thought, 'This is what we were going to do. We were going to solve this problem.'"

Recovery and Science

All nine patients produced healthy immune cells that could fight the infection and continued to do so, Kohn said. He said none of the patients participating in the trial had severe infections since treatment. Six patients will be at least 15 years after UCLA.

"We're careful not to say healing, because it means permanent, we don't know," Cohen said. "But there's no change at all at the level of gene-corrected cell counts as we follow. It's definitely stable."

Five years after participating in the study, Langenhop's children performed well. Ava plays basketball. Olivia is a dancer and cheerleader who has just celebrated her seventh birthday. Langdon is playing T-ball. All three went to public schools. Because they attended the trial, they had to go to the hospital in addition to their annual follow-up with Kohn.

"When they scratched their knees for the first time after the transplant or the cold, they weren't sick, they were actually seen with our own eyes, which really made it obvious, and it was all worth it," said Alicia Langenhop.

The clinical trial therapy studied is now under review by the Food and Drug Administration, the UCLA said in a press release. The goal is to approve treatment as a licensed product that can be used to treat patients, Kohn said.

Langenhops said they were honored that their children could help create a drug that could be used to treat others.

“It’s incredible. It fascinates us because we’re just ordinary people,” said Alicia Langenhop. “When you think about numbers and think about how three of nine patients have received this treatment, it’s probably because other kids can get this treatment in the future, which is hard to solve.”