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Lucas & Menkes Disease: From Diagnosis Day to The Disorder Channel

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Manage episode 310287066 series 3051496
内容由Grey Genetics提供。所有播客内容(包括剧集、图形和播客描述)均由 Grey Genetics 或其播客平台合作伙伴直接上传和提供。如果您认为有人在未经您许可的情况下使用您的受版权保护的作品,您可以按照此处概述的流程进行操作https://zh.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 Foundation

Menkes' Families support group on Facebook

Courageous Parents Network

The Disorder Channel

Disorder: The Rare Disease Film Festival

Daniel’s interviews for the Once Upon A Gene podcast

Rare Together Watch Together - Film Selections from The Disorder Channel in Partnership with Global Genes

Films and Fatherhood

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.

--- Send in a voice message: https://podcasters.spotify.com/pod/show/patient-stories-with-grey-genetics/message
  continue reading

94集单集

Artwork
icon分享
 
Manage episode 310287066 series 3051496
内容由Grey Genetics提供。所有播客内容(包括剧集、图形和播客描述)均由 Grey Genetics 或其播客平台合作伙伴直接上传和提供。如果您认为有人在未经您许可的情况下使用您的受版权保护的作品,您可以按照此处概述的流程进行操作https://zh.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 Foundation

Menkes' Families support group on Facebook

Courageous Parents Network

The Disorder Channel

Disorder: The Rare Disease Film Festival

Daniel’s interviews for the Once Upon A Gene podcast

Rare Together Watch Together - Film Selections from The Disorder Channel in Partnership with Global Genes

Films and Fatherhood

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.

--- Send in a voice message: https://podcasters.spotify.com/pod/show/patient-stories-with-grey-genetics/message
  continue reading

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