ONCE UPON A GENE - EPISODE 190 SCN8A Rare Mom - The Inch Stone Project and DEE-P Connections - Creating Better Tools, Resources and Research for the Most Severely Affected Families with Gabi Conecker Gabi Conecker is an incredible advocate who has worked in the rare disease space for over 10 years. She's accomplished a lot, all while caring for her for her son Elliot with SCN8A and a severe variant of epilepsy.  EPISODE HIGHLIGHTS Where does your rare disease journey begin? My son Elliot was diagnosed with SCN8A in 2014, and there were only about ten known cases in the world. We founded Wishes for Elliot as a way of doing something when nothing was being done. It has evolved into the International SCN8A Alliance and we are focused on research, advancing the field, providing resources and supporting families.  What is DEE and DEE-P? Developmental and epileptic encephalopathies (DEEs), is a hard to control form of epilepsy that cannot be treated with the drugs currently on the market, accompanied by developmental delays and/or regression. Developmental Epileptic Encephalopathy-Project (DEE-P) was formed to break through the isolation families face while researching their children's symptoms and challenges, to facilitate connections and share critical resources with families facing similar challenges. What is the Inchstone Project? The Inchstone Project is a multidisciplinary group of consumers, stakeholders, researchers and clinicians collaborating to accelerate outcome measures development. We came together to address an unmet need and to identify and develop tools to measure patient response to therapies. Our goal is to release a survey soon around head control so we can begin measuring and capturing data. We will continue to test and adapt the tools in preparation for clinical trials.  How can parents and other patient advocacy groups get involved? Visit our website and get in touch with me. For the Inchstone Project, we want to get as many families involved as possible so that when we're developing tools, your voice is heard and you can ensure your child is included.  LINKS & RESOURCES MENTIONED 2023 CTNNB1 Natural History Study, Family Meeting, and Research Conference https://www.curectnnb1.org/research/research-conference/ Wishes for Elliot https://www.wishesforelliott.com/ International SCN8A Alliance https://scn8aalliance.org/ SCN8A Unraveled https://scn8aalliance.org/scn8a-unraveled/ DEE-P Connections https://deepconnections.net/resource-center-main/ Inchstone Project https://deepconnections.net/inchstone-project/ TUNE INTO THE ONCE UPON A GENE PODCAST Spotify https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7 Apple Podcasts https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Stitcher https://www.stitcher.com/podcast/once-upon-a-gene Overcast https://overcast.fm/itunes1485249347/once-upon-a-gene CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/ Interested in advertising on Once Upon a Gene? Email [email protected] for more information!

Intro Music Credits: Title: Storybook Author: Scott Holmes https://freemusicarchive.org/music/Scott_Holmes/inspiring-background-music Source: Free Music Archive https://freemusicarchive.org/music/Scott_Holmes/inspiring-background-music Licence: CC BY-NC https://creativecommons.org/licenses/by-nc/4.0/

ONCE UPON A GENE - EPISODE 187 A Rare Collection - Keep Digging There's power in storytelling- for the listener and the storyteller. A Rare Collection is a monthly series featuring people from the rare disease community, sharing a story with a common theme.  EPISODE HIGHLIGHTS Angela, Mom to Yiannis with IRF2BPL, a neurodegenerative disorder When Yiannis was born on a Saturday evening in July 2020, we knew immediately that something wasn't right. He was whisked away to the NICU and nobody could tell us what was happening. Yiannis was in the NICU for more than two weeks without answers. After 18 months, a neurologist started to piece the puzzle together. Through whole exome sequencing, we found Yiannis had two ultra rare fatal progressive neurodegenerative disorders, IRF2BPL and LSM1. We started a foundation, Yellow for Yiannis, to be a leading resource forIRF2BPL funding and for the support of other families that are enduring this disease. Katie, Mom to Beau with KIF1A, a neurodegenerative disorder  On December 17th, 2021, just shy of a month after his second birthday, our son was diagnosed with KIF1A, a super rare genetic condition that affects about 400 people in the world. We had a healthy, happy pregnancy leading to a pretty uncomplicated birth. Beau  met all of his milestones and he was a healthy baby. When discrepancies in his communication, social skills, gross motor and fine motor skills developed, Beau was diagnosed with KIF1A through genetic testing. I encourage any parents who don't feel okay with a diagnosis to keep digging and keep pushing for the safety of your child.  Dana, Sister to Jason and Sean with BCAP31  After years of genetic testing, it was revealed that my brothers Jason, age 21, and Sean, age 18, were both missing six pairs of their x chromosome. There's no cure for what my brothers have. They're the oldest documented case and most families I've met since have received a diagnosis for their kids around 3 years old. It was at that age when my mom noticed that Jason wasn't hitting his milestones. Kelly, Mom to Emma with dopamine transporter deficiency syndrome (DTDS) When my daughter was 2 months old, I started noticing she was missing milestones. I sought out a complex care pediatrician who started running tests and lab work. Emma received a cerebral palsy diagnosis, but I couldn't accept this diagnosis and sought out other opinions. After a genetic panel on neurotransmitters a genetic counselor revealed the real diagnosis- dopamine transporter deficiency syndrome. Had we settled for the CP diagnosis, we wouldn't have known that our daughter's life expectancy was only late adolescence or that a gene therapy clinical trial will be available.  CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/

ONCE UPON A GENE - EPISODE 186 The Tréxō Robot and the Many Benefits of this Technology for Kids with Disabilities with the Founder and CEO Manmeet Maggu Manmeet Maggu is the Founder & CEO of Tréxō Robotics. Manmeet’s commitment to helping children with cerebral palsy walk drove the vision for Tréxō. An engineer and MBA by training, Manmeet has previously worked in several technical and project management roles before inventing a device called Tréxō, a robotic walker used in therapy programs. He joins me on this episode for a deep dive into the device.  EPISODE HIGHLIGHTS What is the origin of your vision for the Tréxō device? I have a background in robotics, but the history of Tréxō begins when I found out my nephew was diagnosed with cerebral palsy and learned he wouldn't be able to walk. I convinced my friends to help build a prototype for my nephew to help him walk. We worked hard, flew the device to India to try it with my nephew and it didn't work. We made a few more changes and tried again and it allowed him to take a few steps, which proved technology could be a bridge to improving access in his life. Other families started inquiring about getting a Tréxō for their child and that's when the company was born, with the goal of enabling walking for any child that wished to do so.  How does the Tréxō work? The Tréxō is designed around an existing walker called a Rifton Dynamic Pacer. The Rifton is the base support structure and we design the robotic legs that attach onto the Rifton. The Rifton provides support and the legs provide the power to walk. Full control is in the hands of the parent or caretaker, operated by a tablet interface. There are different modes for each child's needs and abilities. Sensors on the device detect the user's initiation, if they're helping or resisting and where in the gait they're helping. There are a lot of features built into the system which allows for the maximum potential benefit from physical therapy, walking and exercise.  How do families obtain a Tréxō for home use? If you want to buy the Tréxō, it costs $35K-$40K, but it can also be leased for around $1K per month on a 12 month lease. Many families use fundraisers, grants or Make-A-Wish. We are starting to get some insurance coverage as well. Families can look at the fundraising and grant resources on our website. LINKS & RESOURCES MENTIONED Fundraising and Grant Resources https://www.trexorobotics.com/category/resources/ Tréxō Robotics Website https://www.trexorobotics.com/ Wish-to-Walk https://www.trexorobotics.com/make-a-wish-and-trexo-robotics/ Find a clinical location with a Tréxō https://www.trexorobotics.com/trexo-locations/ TUNE INTO THE ONCE UPON A GENE PODCAST Spotify https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7 Apple Podcasts https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Stitcher https://www.stitcher.com/podcast/once-upon-a-gene Overcast https://overcast.fm/itunes1485249347/once-upon-a-gene CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/ Interested in advertising on Once Upon a Gene? Email [email protected] for more information!