CdLS Connections

Canadian CdLS Foundation

Navigating the challenges & triumphs of Cornelia de Lange Syndrome (CdLS) and where we explore, learn, and share everything related to CdLS. We will learn from families, clinicians, researchers & educators and those exploring new frontiers relevant to the CdLS community.

  1. 9 hrs ago

    Ep. #21 -💜🏥 Clinical Series: Dr. Antonie Kline & Amy Kimball - SMC3 Gene in CdLS

    Understanding the SMC3 Gene in CDLS — Clinical Findings, Inheritance & the Future of Gene Therapy Watch this webinar on YouTube: https://youtu.be/iFPM8fMV1ow Join the Canadian CdLS Foundation for an in-depth workshop on the SMC3 gene and its role in Cornelia de Lange Syndrome (CdLS). Dr. Antonie Kline, Medical Director of the CdLS Foundation, and genetic counselor Amy Kimball cover everything families need to know — from how the cohesin complex works, to clinical findings across organ systems, inheritance and recurrence risks, how to read a genetic test report, and the current state of gene therapy research. A live Q&A with families follows the presentation, covering real-world questions about development, behavior, aging with SMC3, and more. This webinar was originally hosted by the US CdLS Foundation in September 2026 and is shared here with their generous permission for a wider audience. Speakers: Dr. Antonie Kline, M.D. — Medical Director, CdLS Foundation Amy Kimball — Genetic Counselor Mindy Graham — Family Service Coordinator, CdLS Foundation Chapters: 0:00 — Welcome 0:31 — Disclaimer 0:55 — Introduction 2:38 — Genetics & CdLS Background 8:12 — Clinical Findings in SMC3 9:23 — GI System 11:31 — Growth & Eyes 13:02 — ENT, Dental & Heart 16:58 — Neurology, Behavior & Development 22:01 — Inheritance & Recurrence Risk 25:00 — Reading Genetic Test Reports 28:35 — Gene Therapy & Research 34:15 — Q&A 50:37 — Outro & Resources Resources & Support: 🇨🇦 Canadian & Other Families — Canadian CdLS Foundation Website: canadiancdlsfoundation.com Email: support@canadiancdlsfoundation.com Phone: +1-437-734-2357 (CdLS) 🇺🇸 US Families — CdLS Foundation (USA) Website: cdlsusa.org Email: outreach@cdlsusa.org Family Service Team: familyservicesteam@cdlsusa.org Phone: 800-753-2357 Hashtags: #CdLS #CorneliaDeLangeSyndrome #SMC3 #CohesinComplex #RareDisease #GeneticDisorder #GeneTherapy #GeneticCounseling #CdLSFoundation #RareDiseaseAwareness #PediatricGenetics #CDLSConnections #Genetics #SpecialNeeds #ChromosomeDisorder ChromosomeDisorder Send us Fan Mail Support the show Thanks for listening to CdLS Connections brought to you by the Canadian CdLS Foundation. Stay connected with our community at www.canadiancdlsfoundation.com and follow us on social media for more stories, support and updates. Together, we're building awareness and connection for everyone affected by Cornelia de Lange Syndrome. (c) Canadian CdLS Foundation. All Rights Reserved.

  2. 2d ago

    Ep. #20 -💜🏥 Clinical Series: Dr. Matt Deardorff, Victoria Duke & Dr. Lynn Kerr - SMC1A Gene in CdLS

    💜 A heartfelt thank you to the US CdLS Foundation and the SMC1A Foundation for making this episode possible. This workshop was recorded in September 2026 as part of the US CdLS Foundation’s Back to School webinar series, and is shared on CdLS Connections with permission so that families everywhere can access it. Available on You Tube as well to see the slides and speakers https://youtu.be/xUcSbvHmUgw What does a change in the SMC1A gene mean for your child? In this gene-specific workshop, a geneticist, a neurologist, and a genetic counselor explain what we know about SMC1A, why changes in this one gene can look so different from child to child, and what the latest research is showing. Speakers: Dr. Matt Deardorff, Geneticist, Children’s Hospital Los Angeles, and CdLS Foundation Clinical Advisory Board member Dr. Lynn Kerr, Pediatric Neurologist and CdLS Foundation Clinical Advisory Board member Victoria Duke, Genetic Counselor, CdLS Foundation Moderated by Whitney Rinaldi, Program Director of Family Services, CdLS Foundation In this episode: The cohesin complex and how SMC1A fits into the bigger CdLS pictureMissense vs. loss-of-function changes, and why the type of change mattersSMC1A developmental and epileptic encephalopathy (SMC1A-DEE): seizure types, treatment options, and why seizures can be so hard to controlX-linked genetics made simple: why SMC1A affects boys and girls differentlyX inactivation, and how it helps explain the wide range of featuresCurrent research, including new insights into how different gene changes work, and a look at the recent ataluren studyQ&A: how many children with SMC1A changes have seizures, regression, seizure clusters, VNS, when seizures typically begin, low muscle tone (hypotonia), research participation, and preparing for the move to adult careLearn more: SMC1A Foundation: https://smc1a-epilepsy.org/smc1a-foundation/ US CdLS Foundation: www.cdlsusa.org Canadian CdLS Foundation: www.canadiancdlsfoundation.com CdLS Connections is the podcast of the Canadian CdLS Foundation, where we explore, learn, and share everything related to CdLS. Guest or topic ideas: www.canadiancdlsfoundation.com Need support? support@canadiancdlsfoundation.com This podcast is not intended to be medical advice. Each individual with CdLS is unique, so their own care team or education team should always be consulted. #CdLS #CorneliadeLangeSyndrome #SMC1A #RareDisease #Epilepsy #Genetics #CdLSConnections Send us Fan Mail Support the show Thanks for listening to CdLS Connections brought to you by the Canadian CdLS Foundation. Stay connected with our community at www.canadiancdlsfoundation.com and follow us on social media for more stories, support and updates. Together, we're building awareness and connection for everyone affected by Cornelia de Lange Syndrome. (c) Canadian CdLS Foundation. All Rights Reserved.

  3. 6d ago

    Ep. #19 -💜🏥 Clinical Series: Dr. Peggy Marcon, Dr. Kathy Loomes & Dr. Rudy Sanchez - GI Issues in CdLS

    GI concerns are one of the most common reasons families reach out for support. In this webinar, three GI experts from Canada and the US walk through reflux, EoE, malrotation, constipation, feeding tubes, and the red flags every CdLS family should know, across the whole lifespan. Recorded in September 2026 as part of the CdLS Foundation’s back-to-school event, and shared on CdLS Connections. This video version on YouTube https://youtu.be/Fjd4BDs1fI0 is recommended for visual of all slides. Speakers: Dr. Peggy Marcon, Paediatric Gastroenterologist, The Hospital for Sick Children (SickKids), Toronto, Canada & Medical Director of the Canadian CdLS Foundation Dr. Kathy Loomes, Paediatric Gastroenterologist, Children’s Hospital of Philadelphia Dr. Rudy Sanchez, Paediatric Gastroenterologist, Nationwide Children’s Hospital Moderated by Whitney Rinaldi, Program Director for Family Services, CdLS Foundation In this episode: Is it always reflux? How reflux shows up beyond vomiting, including cough, pneumonia, feeding refusal, and behavior changesTesting for reflux: barium swallow, endoscopy, and pH impedance studiesEosinophilic esophagitis (EoE): what it is, why it matters in CdLS, and how it’s treatedBarrett’s esophagus and why ongoing follow-up into adulthood mattersFundoplication: when it helps and what to watch for afterwardG-tubes and GJ-tubes: deciding together with your care teamMalrotation and volvulus: why an upper GI study is recommended for every child with CdLSConstipation: when to see a specialist, laxative options, and what research shows about MiraLAX safetyMotility testing and GI red flagsHow to help your care team hear your concernsQ&A: gallstones, outgrowing EoE, common EoE food triggers, improving motility without medication, managing secretions, and GJ feeds vs. fundoplicationThe medical alert card mentioned in this webinar is available from the Canadian CdLS Foundation here: https://www.canadiancdlsfoundation.com/_files/ugd/748ccb_fda99607e8d34c99a1168de14590d6d9.pdf US CdLS Foundation: https://www.cdlsusa.org/wp-content/uploads/2018/10/medical-card.pdf CdLS Connections is the podcast of the Canadian CdLS Foundation, where we explore, learn, and share everything related to CdLS. Thank you to the US CdLS Foundation and our clinical experts for sharing this webinar with our community. Guest or topic ideas: www.canadiancdlsfoundation.com Need support? support@canadiancdlsfoundation.com This podcast is not intended to be medical advice. Each individual with CdLS is unique, so their own care team or education team should always be consulted. #CdLS #CorneliadeLangeSyndrome #RareDisease #GIHealth #EoE #FeedingTube #SpecialNeedsParenting #CdLSConnections Send us Fan Mail Support the show Thanks for listening to CdLS Connections brought to you by the Canadian CdLS Foundation. Stay connected with our community at www.canadiancdlsfoundation.com and follow us on social media for more stories, support and updates. Together, we're building awareness and connection for everyone affected by Cornelia de Lange Syndrome. (c) Canadian CdLS Foundation. All Rights Reserved.

  4. Oct 16

    Ep. #18 -💜🏥 Clinical Series: Julia O'Connor PhD. Dr. Rowena Eng & Dr. Rudy Sanchez - Pain & Behaviour in CdLS

    The Connection Between Pain and Behavior in CdLS  When someone with CdLS can’t say “my belly hurts,” behavior is often how they tell us. In this workshop, a pediatric gastroenterologist, a neuropsychologist, and a behavior psychologist explain how the gut, the brain, and behavior connect, and how families can figure out what a sudden change in behavior might mean. Shared with thanks to the US CdLS Foundation, who generously allowed us to add this workshop to CdLS Connections so families everywhere can access it. Speakers: Dr. Rudy Sanchez, Pediatric Gastroenterologist, Nationwide Children’s Hospital Dr. Rowena Eng Dr. Julia O’Connor Hosted by Ashley Fernandez, Family Service Coordinator, CdLS Foundation In this episode: Signs of GI problems, and the basic tests doctors use to check for them Why constipation isn’t diagnosed by X-ray Nerve sensory conditions like IBS, and the gut-brain connection Why GI doctors sometimes prescribe “anxiety” medications for the gut How communication level affects how pain shows up as behavior AAC devices and choosing the right communication tools Functional behavior assessments: figuring out why a behavior happens Practical strategies: schedules, redirection, social stories, coping skills, and replacement behaviors Q&A on medication side effects, feeding refusal at school, infant reflux, the rotavirus vaccine, planned ignoring, recognizing pain, and constipation and seizures #CdLS #CorneliadeLangeSyndrome #RareDisease #GutBrainConnection #BehaviorSupport #SpecialNeedsParenting #CdLSConnections We recommend watching on YouTube for the visual slide presentation for optimal learning. https://youtu.be/pjQiZM5TUTA Send us Fan Mail Support the show Thanks for listening to CdLS Connections brought to you by the Canadian CdLS Foundation. Stay connected with our community at www.canadiancdlsfoundation.com and follow us on social media for more stories, support and updates. Together, we're building awareness and connection for everyone affected by Cornelia de Lange Syndrome. (c) Canadian CdLS Foundation. All Rights Reserved.

  5. Mar 31

    Ep.#17 💜 Family Series: Marci Dunning - Freya's Mother

    In this episode of the CdLS Connections Podcast, we sit down with Marci Dunning—mom to Freya and creator of Freya’s Lucky Arm—for an honest and heartfelt conversation about parenting, resilience, and showing up authentically. Marci shares her journey raising Freya, the power of confidence and advocacy, and what it means to live openly and unapologetically in the rare disease community. Her story is a reminder of the strength, love, and connection that brings families together. This episode also available on YouTube: https://youtu.be/2xhz_t-zj0A Follow Marci & Freya: Instagram, TikTok & Facebook: @freyasluckyarm YouTube: Freya’s Lucky Arm #CdLS #RareDisease #ParentingJourney #Advocacy #FreyaLuckyArm Send us Fan Mail Support the show Thanks for listening to CdLS Connections brought to you by the Canadian CdLS Foundation. Stay connected with our community at www.canadiancdlsfoundation.com and follow us on social media for more stories, support and updates. Together, we're building awareness and connection for everyone affected by Cornelia de Lange Syndrome. (c) Canadian CdLS Foundation. All Rights Reserved.

  6. 2025-10-14

    Ep. #16 💜 Family Series: Maria Watkins & Ella- "Life on M Avenue"

    Maria Watkins is a mother of five children, their middle child Ella was born with CdLS. Her and her husband live near Sioux City, Iowa, USA. They have a small farm, juggle work, a business, and their busy family and have recently started on their fitness journey. Maria shares Ella's early years and how a serious medical emergency helped her in finally accepting the diagnosis of CdLS. Maria shares the meaning of writing her blog in the early days and how circumstances moved her to entrepreneurship while her and her husband continued to ensure family and children remained their priority. You can find Maria's blog "Life on M Avenue" here: https://www.mavenuephotography.com/lifeonmavenue Her photography can be found here: https://www.mavenuephotography.com Strumming guitar performed by Tami Pfalzgraf @cdlsdads Send us Fan Mail Support the show Thanks for listening to CdLS Connections brought to you by the Canadian CdLS Foundation. Stay connected with our community at www.canadiancdlsfoundation.com and follow us on social media for more stories, support and updates. Together, we're building awareness and connection for everyone affected by Cornelia de Lange Syndrome. (c) Canadian CdLS Foundation. All Rights Reserved.

  7. 2025-08-26

    Ep. #15 - 💜 Family Series: Dawn Seitz Rauscher - Team Nikki

    Join us for a conversation with Dawn Seitz Rauscher as she shares her journey and  her life with Nikki who passed away ten years ago at the age of 17. Nikki’s memory and legacy lives on in her family, community and the global CdLS Community. Send us Fan Mail Support the show Thanks for listening to CdLS Connections brought to you by the Canadian CdLS Foundation. Stay connected with our community at www.canadiancdlsfoundation.com and follow us on social media for more stories, support and updates. Together, we're building awareness and connection for everyone affected by Cornelia de Lange Syndrome. (c) Canadian CdLS Foundation. All Rights Reserved.

  8. 2025-07-23

    Ep. #14 -💜🏥 Clinical Series: Dr. Peggy Marcon- Blenderized G-Tube Feeds for CdLS

    Join us for a webinar presented by Dr. Peggy Marcon M.D. and Kelsey Gallagher R.D. of Sick Kids Toronto at the US CdLS Virtual Conference in 2020 where you will learn about what is Blenderized Tube Feed diet, how to transition, findings from research and first hand parent experience. The quality of the audio is less than optimal due to the recording of a live virtual event. We recommend you download the slides to view along with the presentations here, or watch the webinar on our YouTube channel. Send us Fan Mail Support the show Thanks for listening to CdLS Connections brought to you by the Canadian CdLS Foundation. Stay connected with our community at www.canadiancdlsfoundation.com and follow us on social media for more stories, support and updates. Together, we're building awareness and connection for everyone affected by Cornelia de Lange Syndrome. (c) Canadian CdLS Foundation. All Rights Reserved.

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Ratings & Reviews

5
out of 5
6 Ratings

About

Navigating the challenges & triumphs of Cornelia de Lange Syndrome (CdLS) and where we explore, learn, and share everything related to CdLS. We will learn from families, clinicians, researchers & educators and those exploring new frontiers relevant to the CdLS community.

Information

  • Creator
    Canadian CdLS Foundation
  • Years Active
    2023 - 2026
  • Episodes
    22
  • Rating
    Clean
  • Copyright
    © 2026 CdLS Connections
  • Show Website
    CdLS Connections