Could your child have a rare disease that doesn't appear on newborn screening? What happens when a parent's instincts don't match the initial diagnosis? How can patient advocacy change the future for other families?
When a child faces a rare genetic disorder, every minute matters—and every voice counts. In this deeply moving episode of Ask the Patient Advocate, Dr. Elena Borrelli sits down with Jordan Kruse, founder of the Brave Little One Foundation, to share the heartbreaking yet inspiring story of her son, Pruitt, who was diagnosed with ornithine transcarbamylase (OTC) deficiency, a rare metabolic disorder that causes life-threatening ammonia buildup.
After losing Pruitt at just six months old, Jordan transformed unimaginable grief into a mission to improve rare disease awareness, patient advocacy, and support for families navigating medically complex diagnoses. Together, they discuss why rare conditions are often mistaken for more common illnesses, the importance of trusting parental instincts, gaps in newborn screening, and why the message \"Think Rare, Act Fast\" has the power to save lives.
If you have questions or topics you'd like us to explore, don't hesitate to reach out to us at advocate@pathwaypa.com. Remember, with the right advocate by your side, managing your health becomes a journey of empowerment and clarity.
For personalized assistance and support, reach out to us and discover how we can help you navigate your path to better health. Call us at (947) 517-8395
Connect with Jordan Kruse:
https://sites.google.com/view/thebravelittleone
https://www.instagram.com/brave.littleone/
https://www.facebook.com/profile.php?id=61563127591766
Connect with Dr. Elena Borrelli:
Instagram: @pathwaypadvocates
Facebook: Pathway Patient Advocates
Youtube: Pathway Patient Advocates
Tiktok: Pathway Patient Advocates
LinkedIn: Pathway Patient Advocates
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