When Answers Matter: Living With CTLA-4 Deficiency
- Sunshine the Bear
- Jan 8
- 2 min read
For many families living with primary immunodeficiency (PI), answers don’t come easily. Symptoms can appear slowly, change over time, or affect multiple systems in the body—making diagnosis a long and frustrating journey. Vivianne’s story is one example of how persistence, connection, and the right care can make all the difference.
Vivianne lives with CTLA-4 Deficiency, a rare primary immunodeficiency that affects the immune system’s ability to regulate itself. Rather than simply weakening immune defenses, CTLA-4 Deficiency can cause the immune system to become overactive, leading to recurrent infections, autoimmune conditions, and chronic inflammation.
In Vivianne’s case, the path to understanding began with a family member. Years before Vivianne was diagnosed, a close relative experienced severe, unexplained health challenges. After extensive testing at the National Institutes of Health, doctors identified CTLA-4 Deficiency as the cause. That discovery prompted genetic testing throughout the family—and revealed that Vivianne and her mother were also living with the condition.
As Vivianne grew older, the diagnosis helped bring clarity to the health challenges she faced, including recurrent infections and autoimmune complications such as Type 1 diabetes. With answers finally in hand, her family was able to move forward with informed care, ongoing monitoring, and the support of specialists who understood the complexity of her condition.
Living with CTLA-4 Deficiency means regular medical visits, careful treatment decisions, and learning how to balance health with everyday life. It also means resilience—showing up for school, friendships, and milestones while navigating a condition most people have never heard of.
At Yellow Bear Foundation, stories like Vivianne’s remind us why awareness matters. Primary immunodeficiencies are often invisible, misunderstood, and under-diagnosed. By sharing real experiences, we help put faces to these conditions and move the conversation forward—toward earlier diagnosis, better support, and brighter futures.
No family should have to walk this journey alone.