Waiting for Treatment in Alpha-1: A Family’s Rare Disease Journey

When Natasha Durant’s daughter was just 6 weeks old, she was in liver failure. Doctors initially suspected biliary atresia, but further testing revealed the true diagnosis: Alpha-1 antitrypsin deficiency, often called Alpha-1, a rare genetic condition that can cause liver and lung damage. Soon after, Natasha and her husband had their older son tested. He, too, has Alpha-1. Both parents are carriers of the MZ genotype, and their youngest child is also a carrier.

Today, Natasha is a parent advocate working with the Global Liver Institute, using her family’s experience to push for greater awareness and research.

Alpha-1 can lead to the buildup of abnormal proteins called polymers in the liver. Over time, this can damage the liver and prevent it from properly protecting the lungs. While lung treatments are approved for adults with advanced disease, there are currently no approved liver treatments, and pediatric options remain limited. For families like Natasha’s, that means waiting.

“It's very disheartening,” she explains. “We just have to wait until our [kids’ conditions become] bad enough to get treatment.”

That waiting takes a toll both physically and emotionally. Natasha has participated in caregiver research studies that track daily life, but she says short survey windows don’t capture the full reality. They miss the emergency room visits, the battles with insurance over medication approvals and the days when support simply isn’t available.

Beyond the medical uncertainty, children living with rare diseases are aware of what lies ahead. They know there is no treatment yet. Natasha believes that earlier, safe inclusion of children in clinical research could improve not only long-term health outcomes but also mental well-being. Preventing decline, rather than waiting for it, could extend healthier years of life and reduce health care costs over time.

She acknowledges the ethical complexities of pediatric research, including safety concerns and consent. But she believes progress is possible — and necessary.

As part of The Educated Patient’s Rare Disease Day coverage, Natasha’s story highlights a powerful message: Families aren’t asking for shortcuts. They’re asking for safe, thoughtful innovation that gives children with rare diseases a chance at longer, healthier futures.