Things to Know When Your Child Is Diagnosed With CAH, with Richard Auchus, M.D., Ph.D.

When your child is diagnosed with congenital adrenal hyperplasia (CAH), it’s normal to feel overwhelmed. But according to Richard Auchus, M.D., Ph.D., professor at University of Michigan Health and a leading expert in adrenal disorders, families have more support, better treatments and greater hope today than ever before.

Auchus emphasizes three key takeaways for families facing CAH. First, the quality of care has improved dramatically. Thanks to advocacy efforts from organizations like the CARES Foundation and The MAGIC Foundation, more comprehensive care centers and centers of excellence now exist across the country. These centers bring together experts who specialize in rare diseases like CAH and provide holistic, coordinated care.

Second, there’s a growing wave of interest and innovation in CAH treatment. Thanks to grassroots advocacy and sustained research efforts, CAH is receiving more attention in both clinical and pharmaceutical settings. This has accelerated the development of new therapies, beyond traditional glucocorticoids.

That leads to the third point: New treatment options are here — and more are on the way. While medications like crinecerfont represent major advancements, several other investigational drugs are now in clinical trials. These therapies work at different points along the hormone regulation pathway, offering new possibilities for managing CAH with fewer side effects.

Auchus compares the current evolution in CAH care to the dramatic improvements seen in Type 1 diabetes treatment over the past decade, thanks to continuous glucose monitors and insulin pumps. “Control is better now, and it’s only getting better,” he says.

He also encourages families to consider clinical trial participation. Not only do participants often receive personalized care and close monitoring, but they also help advance treatment for others. In recent CAH trials, retention was extraordinary — with 96% of patients completing the studies — a testament to the commitment of families and the promise of new treatments.

Ultimately, Auchus wants parents to know that CAH is manageable and treatable, and the future looks brighter than it did even a decade ago. “This isn’t what it was 30 years ago,” he says. “There’s a lot of good happening now — and more to come.”

4 Things To Know When Your Child is Diagnosed With CAH:

• CAH care has significantly improved due to advocacy and the creation of comprehensive care centers.
• Research and awareness are growing, leading to more interest and investment in better treatments.
• New therapies are in development.
• Clinical trials are safe and valuable, offering patients access to cutting-edge care and contributing to the broader CAH community.

This transcript was edited for clarity.