Episode #3 - An Interview with A Rare Mother

In this heartfelt episode, we hear from a courageous mother who shares her deeply personal journey of raising two children diagnosed with the ultra-rare genetic condition ADSL deficiency. The conversation opens with a raw reflection on the early days—when something didn’t feel quite right with her children, Sydney and Carson. As a parent, that intuitive knowing can be both unsettling and confronting.

She speaks candidly about the emotional impact of finally receiving a diagnosis. While the medical path was uncertain and, at times, overwhelming, the sense of clarity brought a new level of understanding—and a fierce determination to advocate for her children.

Throughout the episode, themes of strength, surrender, and the importance of community support shine through. One quote shared by the family’s respite provider sums it up beautifully:

“Sleep and laughter will cure almost everything.”

These simple, powerful words became a kind of balm—a reminder to find lightness amidst the heaviness and that even in the most difficult times, moments of joy and rest are essential.

Whether you're a fellow rare parent, a healthcare professional, or someone wanting to understand the emotional terrain of rare disease caregiving, this episode offers a tender, honest, and inspiring window into one family’s experience.

🔗 Riley’s Rest Foundation – A Respite Organisation Supporting Families in Western New York
Dedicated to providing comfort, community, and rest for families caring for medically complex children.

🔗 Pilates & Wellness Retreat – Koh Samui, Thailand | April 2026
Join us for a restorative retreat designed to nurture body, mind, and spirit through movement and connection.

🔗 ADSL Deficiency Journeys – Private Support Group for Families
If your child has been diagnosed with ADSL deficiency and you haven't found us yet, we warmly invite you to join our private support group.

Help us raise awareness of ADSL deficiency by sharing this podcast with others. Every share helps shine a light on this ultra-rare condition and connects families who might otherwise feel alone.

📣 We’re on a mission to reach 1,000 followers on our dedicated Facebook page—a space for community, connection, and support.
👉 Follow us here: ADSL Deficiency Journeys

Thank you for being part of our growing community. Alone, we are rare; together, we are strong and can make a difference.