After six years of living in what co-host Emily Whiting calls the no man’s land of rare undiagnosed disease, her daughter Charlotte has finally received an overarching diagnosis that explains her medical anomalies.
In today’s episode, Emily reveals that diagnosis and the wild journey that led to the genetic anomaly discovery. She openly discusses the challenges of living with an ultra-rare undiagnosed disease, the pros and cons of having a diagnosis, and what it might mean for Charlotte’s future.
Emily begins the discussion of how Charlotte has no ‘medical home’ where her care is proactively managed, and the care gaps despite having more than 20 specialists involved.
Join Emily to dream about how Charlotte’s journey can positively impact and improve the world of pediatric complex care, of living with a rare and undiagnosed disease, and, of how Charlotte’s Hope Foundation could one day unite the nine current families known to have the same syndrome as Charlotte (and maybe even more as they continue to be discovered).
What a powerful podcast Emily! Thank you for sharing your journey with Charlotte and her diagnosis. I pray for Charlotte’s Hope Foundation to grow into helping MORE than you could have even imagined!
Thank you for listening to the podcast episode Aunt Heidi! I agree… I pray the Foundation has an even more profoundly positive impact than I can imagine. I think we are well on our way thanks to supporters like you.😘 ❤️