They didn’t understand why their kids kept getting sick. After a rare diagnosis, a new gene therapy offered hope.

Ava Langenhop and her family went through a challenging time when she was constantly sick since birth. Her parents, Alicia and Jon Langenhop, struggled to understand what was causing her frequent infections and hospitalizations. They later found out that Ava had LAD-1, a rare disorder that affects the immune system.

The Langenhops also discovered that their second daughter, Olivia, had the same disease. They were devastated to learn that their son, Landon, born in 2019, also had LAD-1. This led them to explore treatment options, including a stem cell transplant via bone marrow donation. However, finding a suitable match for their children proved to be a challenge.

Eventually, the family enrolled in a clinical trial led by Dr. Donald Kohn at UCLA Mattel Children’s Hospital. The trial tested an investigational therapy developed by Rocket Pharmaceuticals that allowed the patients to be their own stem cell donors. The process involved chemotherapy, blood collection, gene correction, and stem cell transplantation.

Despite the hardships and challenges they faced, the Langenhops remained hopeful and committed to the treatment. They spent nine months in Los Angeles for the therapy, with each child undergoing treatment one by one. The results were promising, with all nine patients in the trial, including Ava, Olivia, and Landon, producing healthy immune cells capable of fighting infections.

Five years after participating in the study, the Langenhop children are thriving. Ava plays basketball, Olivia enjoys dancing and cheerleading, and Landon is playing T-ball. They are all enrolled in public school and have not had any severe infections since the treatment. The success of the clinical trial has led to the therapy being reviewed by the FDA for approval as a licensed product.

The Langenhops are grateful that their children could help pave the way for a new treatment for LAD-1. They are proud to have been part of the process and hope that the therapy will benefit other patients in the future. The family’s journey is a testament to their resilience, determination, and the power of medical science in overcoming rare diseases.