))
Lucas & Menkes Disease: From Diagnosis Day to The Disorder Channel
Manage episode 310287066 series 3051496
Grey Genetics द्वारा प्रदान की गई सामग्री. एपिसोड, ग्राफिक्स और पॉडकास्ट विवरण सहित सभी पॉडकास्ट सामग्री Grey Genetics या उनके पॉडकास्ट प्लेटफ़ॉर्म पार्टनर द्वारा सीधे अपलोड और प्रदान की जाती है। यदि आपको लगता है कि कोई आपकी अनुमति के बिना आपके कॉपीराइट किए गए कार्य का उपयोग कर रहा है, तो आप यहां बताई गई प्रक्रिया का पालन कर सकते हैं https://hi.player.fm/legal।
After birth, Lucas spent ten days in the NICU due to a skull fracture he was born with. This was the window of opportunity for him to be diagnosed with Menkes Disease and receive treatment that would have meant a fairly normal outcome. Instead, Lucas went undiagnosed with this rare disease. His parents noted developmental delays at 4 months, regression at 8 months. At 9 months of age, Lucas finally saw a geneticist, and at 1 year of age he was diagnosed with Menkes Disease and given a life expectancy of 3-10 years. Lucas’ father Daniel describes Diagnosis Day as the shock event, the worst day of his life. He also describes how he and his family adjusted and found joy in their time with Lucas, who passed away at age 11 in June 2020. A filmmaker, Daniel co-founded the Rare Disease Film Festival and has now launched a related streaming channel, The Disorder Channel, which can be found through Amazon Fire and Roku.
Related Resources:
Menkes Disease: Finding Help & Hope: A ten-minute documentary about Daniel’s son Lucas
Menkes' Families support group on Facebook
Disorder: The Rare Disease Film Festival
Daniel’s interviews for the Once Upon A Gene podcast
Rare Disease Trailblazer and Co-Founder of Disorder - The Rare Disease Film Festival
Have thoughts or a related story you’d like to share?
Leave us a short voice message here! We may use your message on a future show.
Check out other Patient Stories podcast episodes.
Read other Patient Stories on the Grey Genetics Patient Stories Page
Do you want to support Patient Stories? You can now make a donation online!
Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media.
Patient Stories on Twitter: @GreyGeneticsPod
Patient Stories on Instagram: @patientstoriespodcast
Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.
94 एपिसोडस
साझा करें
