))
Raising a Child with STXBP1 With Guest Chloe Weber
Manage episode 439173302 series 2905833
Content provided by Jessica Temple. All podcast content including episodes, graphics, and podcast descriptions are uploaded and provided directly by Jessica Temple or their podcast platform partner. If you believe someone is using your copyrighted work without your permission, you can follow the process outlined here https://ro.player.fm/legal.
Episode 103: Raising a Child with STXBP1 With Guest Chloe Weber
In this we discuss rare genetic disorder called STXBP1. Guest Chloe Weber’s son Remy has a rare genetic disorder called STXBP1. This condition affects syntax and binding protein. For these individuals, their bodies don’t make enough of the protein,the protein is misfolded, and the proteins can affect the brain. The condition can cause delays, cognitive impairments, ataxia, apraxia, parkinsonian tremors, and epilepsy.
Remy was referred to early intervention at 9 months, as he was not developing as expected, although Chloe first started seeing signs at 4 months. He was then referred to genetics and neurology. He was diagnosed with a genetic disorder at 2.5 years old.
Although her son has a lot of impairments, Remy remains happy and in the moment, even during this therapies. His seizures started when he was 2 years old, around the time he was diagnosed. For treatments, they manage seizures, stress, insomnia, and any symptoms that arise. There is no cure. They have tried intense therapy programs, CBD, oxygen therapy, supplements, movement therapy, ozone therapy, hyperbaric therapy, neurofeedback, and floor time. Remy needs constant supervision, even at night, due to having nocturnal seizures.
Chloe discusses all of the advocacy work she has had to do to help Remy, including advocating for him to be allowed to attend school. Remy was kicked out of school twice, causing them to have to move, and uproot her company and leave behind family and friends. When Remy was 3, there was an inclusion program that he was able to attend through the school system, with a lot of supports. As Remy got older, Chloe started getting phone calls to come pick up Remy because the school didn’t want to deal with his behaviors. He is now in a great program in Colorado, although the paraprofessionals are mostly in charge of the children, rather than the special educator.
For Chloe, she copes by being easier on herself, using positive self-talk, uses Fight Camp, being in nature, and using meditation.
Links:
Email us if you have any questions or ideas!
Check out updates on our website.
Please subscribe to our podcast in the iTunes store, or wherever you find your podcasts, Leave us a 5-star review, to help us know what you like and what you don't like, and to make sure other like-minded people find support through this podcast.
Show Music:
Intro Outro: Intro Outro 2 by Mattias Lahoud under CC-BY 3.0 License (www.freesound.org)
Theme Song: 90s rock style by monkeyman535 under CC-BY 3.0 License (www.freesound.org)
Self Care Song: Green and Orange No Water by Duncan Alex under CC-BY 3.0 License (www.freesound.org)
Hosted by: Jessica Temple and Lewis Temple
Disclaimer: Our show is not designed to provide listeners with specific or personal legal, medical, or professional services or advice. Parents of children with health issues should always consult their health care provider for medical advice, medication, or treatment.
Copyright 2021 Jessica Temple
100 episoade
Distribuie
