Frequently families like mine don't know what's available to help us, we're too focused on getting through our day-to-day. But even if we had time, we would need to know what to look for. It's my mission to introduce a new organization or individual serving those with disabilities every week.
All views and opinions represented are my own. I am not writing on behalf of Capital Motion or Visible National Trust. Neither Capital Motion nor Visible National Trust endorse or in any other way support this content and podcast. This podcast is wholly owned and operated by me, Eric Jorgensen.
This is the last episode of the ABCs of Disability Planning podcast. Thank you for listening.
27 Jan 2025
Pediatric Genomics and the Future of Rare Disease Diagnosis
I reached out to Dr. Saquib Lakhani and his collaborator after reading about their discovery of the Jeffries-Lakhani Neurodevelopmental Syndrome (JELAN). Dr. Lakhani agreed to be my guest. This conversation is about a possible future for those born with a rare disease.
I had no idea the numbers were so high, 8 - 10% of the U.S. population has a "rare" disease. I would guess these numbers are higher. I'd like us to start testing those with Cerebral Palsy and Autism to see if some individuals may also have an undiagnosed condition.
In my perfect world, everyone will have their genes sequenced at birth. I believe gene editing will eventually help improve our healthspan, allowing us to live longer lives that we can enjoy.
Resources:
American Society of Human Genetics - https://www.ashg.org/ (https://www.ashg.org/)
Yale's Pediatric Genomics Discovery Program - https://www.yalemedicine.org/departments/pediatric-genomics (https://www.yalemedicine.org/departments/pediatric-genomics)
Jeffries-Lakhani Neurodevelopmental Syndrome (JELANS) - https://omim.org/entry/620771 (https://omim.org/entry/620771)
20 Jan 2025
Neurodiversity-affirming support by Autistics, for Autistics
Doug Blecher founded Autism Personal Coach (https://www.autismpersonalcoach.com/) in 2013 in response to the near-total lack of real-life support for Autistic adults.
In 2022, Doug officially confirmed his suspicions about his neurotype. APC is now happy to confirm they are fully Autistic-led (and have been all along)!
All of their autism life coaches are either Autistic or chosen by Autistics. We choose them based on their commitment to trauma-informed and neurodiversity-affirming strategies. Their Coaches deeply understand burnout, sensory needs, and the importance of special interests. They empower our clients to take the lead, determine their goals, and choose their paths.
They know that lived experience makes Autistic people the real experts on autism. They're here to help make their goals a reality!
Connect to learn more:
Website: https://www.autismpersonalcoach.com/ (https://www.autismpersonalcoach.com/)
IG: @autismpersonalcoach
FB: @autismpersonalcoach
For additional resources and more information about Visible you can find us here:
Web: https://visiblenationaltrust.com/ (https://visiblenationaltrust.com/)
Podcast (ABC's of Disability Planning) - https://anchor.fm/abcs-disability-planning (https://anchor.fm/abcs-disability-planning)
Waypoints - https://waypoints.substack.com/ (https://waypoints.substack.com/)
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