CdLS Connections

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-zj0AFollow Marci & Freya: Instagram, TikTok & Facebook: @freyasluckyarmYouTube: Freya’s Lucky Arm#CdLS #RareDisease #ParentingJourney #Advocacy #FreyaLuckyArmSend us Fan MailSupport the showThanks 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.

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/lifeonmavenueHer photography can be found here: https://www.mavenuephotography.comStrumming guitar performed by Tami Pfalzgraf @cdlsdadsSend us Fan MailSupport the showThanks 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.

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 MailSupport the showThanks 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.

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 MailSupport the showThanks 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.

In this deeply personal episode of CdLS Connections, Ken Pfalzgraf shares the life and legacy of his daughter Tami, who passed away at age 18 in late 2024 due to complications related to a gastric duplicative cyst associated with Cornelia de Lange Syndrome (CdLS).Ken reflects on fatherhood, advocacy, music, partnership, and the emotional reality of navigating complex medical systems. Through Tammi’s story, this conversation explores both the joy of raising a child with CdLS and the painful realities of medical dismissal and serious GI complications.Tami’s original music is featured throughout this episode.⚠️ Content Note: This episode contains discussion of death and dying, which may be sensitive for some listeners.In This Episode, We Discuss:• Gastrointestinal complications in CdLS, including gastric duplicative cysts• Recognizing when a child’s symptoms may be dismissed• The emotional toll of medical decision-making• Fatherhood and partnership in raising a medically complex child• Education systems and advocating for your child’s potential• Music as connection, expression, and legacyWhy This Episode MattersGI complications remain one of the most serious medical concerns in individuals with CdLS. Hearing directly from a parent who experienced these challenges offers invaluable insight for:Families navigating grief, sudden death, and advocacyClinicians working with medically complex patientsEducators supporting students with rare conditionsAdvocates seeking improved awareness and listening within healthcareThis episode bridges lived experience and clinical realities — reminding us that behind every diagnosis is a full and meaningful life.Support CdLS Education & AwarenessIf this episode resonated with you, please consider supporting the work of the Canadian CdLS Foundation. Your donation helps keep this podcast free and accessible to families worldwide.https://www.buzzsprout.com/1774404/supporters/newSend us Fan MailSupport the showThanks 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.

A fellow CdLS dad, Gary sits down with Edgar to hear a father's perspective on having a child with Cornelia de Lange Syndrome (CdLS). Edgar, originally from Mexico, is the father of Daniel, a young boy with CdLS. Edgar shares his story of meeting his wife Ulzi, starting a family, moving across continents from Mongolia, back to Mexico and to Switzerland. He shares his journey with receiving the diagnosis, his role as a father and the challenges on accepting the diagnosis, the impact on their marriage and how Daniel has brought hope, growth and strength to their relationship and family.You can view this podcast and others on our YouTube channel.Help is continue to bring stories that enable others to learn, offer support and encouragement and lift the feeling of isolation and loneliness by donating to the Canadian CdLS Foundation Registered Charity.Send us Fan MailSupport the showThanks 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.

Join us in a conversation with Charlotte Nordin, mother of 13 year old Vera who was born with Cornelia de Lange Syndrome (CdLS). Charlotte shares her journey as a mother, finding meaning and how this gift has opened her heart. Charlotte shares the challenges, spiritual perspectives and practical ways to find balance in the day to day.You can watch this podcast in video format on our YouTube Channel: https://www.youtube.com/@CanadianCdLSFoundationYou can follow Charlotte Nordin in Instagram here: https://www.instagram.com/charlotte.nordin?utm_source=ig_web_button_share_sheet&igsh=MXh6NnRlNHh5OXY1ZQ==You can listen to Charlotte and Vera's album here: https://hummusrecords.bandcamp.com/album/celle-que-je-suisIf you would like to donate to continue bringing you stories, content and information we would be grateful: https://www.canadiancdlsfoundation.com/donateWould you like to a guest on the show? Email us at [email protected] and we would love to hear your story helping others not feel so alone of bringing valuable expertise and experience to families, clinicians and their community.Send us Fan MailSupport the showThanks 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.

Dimitre was born in 1997 and was diagnosed with Cornelia de Lange Syndrome shortly after birth. Dimitre's mom Majda Ficko shares her life with her son Dimitre and how it shifted her career in a new direction and through Dimitre, continues to keep his legacy alive with a skincare line. Dimitre passed away in 2021 at the age of 23.*video contains discussion about death and dyingSend us Fan MailSupport the showThanks 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.

Join us for a conversation with Emily Turner at the recent US CdLS Foundation Eastern retreat in Oxford, Pennsylvania. Emily shares her journey to independence and her current life with her dog living in a tiny house. Emily describes how she has overcome challenges and provides wisdom that we can all learn from. During the retreat, Emily finally received a definitive molecular diagnosis of NIPBL after decades of searching. She shares the importance of the CdLS community to her and what it means to come together to meet clinicians, other families and individuals with CdLS.Send us Fan MailSupport the showThanks 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.

Join us to hear the story of Leanna who has lived with the diagnosis of CdLS for over 30 years. Only last year at the age of 32 did Leanna receive molecular testing to find out that she did not have Cornelia de Lange Syndrome but another rare syndrome, Rubinstein-Taybe Syndromes (RTS). Join us in hearing discussion with Leanna's mom, Brenda King, as she shares the Leanna's journey and similarities and differences between CdLS and RTS. An example of the benefits of advancements in genetics and the importance of molecular testing.Send us Fan MailSupport the showThanks 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.

Elaine is Madison's mom.  Elaine shares the triumphs and challenge of parenting Madison from diagnosis to Madison's life as a young adult in her 20's developing independence. Elaine shares her journey of how she created a community in Milton, ON. for adolescents and adults to enable an active social life for Madison through the creation of Special Friends Network. Send us Fan MailSupport the showThanks 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.

Voices for Ability Radio interviews the Canadian CdLS Foundation President & Founder about CdLS and the current work of the Foundation.Send us Fan MailSupport the showThanks 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.

Join us for a previously recorded webinar with Kelly Hall-Berenesky to learn about her daughter Grace's Autism Assistance Service Dog.  Grace lives in Red Lake, Ontario and was born with CdLS and as with many individuals with CdLS, anxiety can be a huge challenge that often times results in responsive behaviours.  Learn about the process for applying for a service dog, its challenges and benefits and how Sandro has become a part of Grace's entire family and community.Send us Fan MailSupport the showThanks 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.

Jenn Evans is a Physiotherapist, certified Rebound therapist and a volunteer Clinical Advisor for the Canadian CdLS Foundation.  Jenn shares with us a form of therapy that is fun, beneficial and relatively new in the Canadian landscape. Join us to learn more about the benefits of Rebound Therapy.Send us Fan MailSupport the showThanks 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.

Join us as we share the grief journey of a CdLS diagnosis. Carmen practices soul medicine in Calgary, AB and is a mother of three children. Her middle child Eli was born with CdLS and shares her story of receiving the diagnosis and how that has impacted her practice. Learn more about Carmen at www.carmenwilde.caIf you or your family member has been diagnosed with CdLS and you would like support, please contact [email protected] us Fan MailSupport the showThanks 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.

Join us for a conversation with Sarah Strathy-Alie, SLP as we discuss the role of Speech Language Pathology in the life of an individual with CdLS. This is Part 2 of our conversation.Send us Fan MailSupport the showThanks 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.

Join us for a conversation with Sarah Strathy-Alie, SLP as we discuss the role of Speech Language Pathology (SLP) in the life of an individual with CdLS. Sarah Strathy-Alie is a SLP in Toronto where she sees children and adults both in the Catholic School Board but also at her private practice where she sees individuals with CdLS.  She is also on the Clinical Advisory Team of the Canadian CdLS Foundation and provides consultation and treatment to individuals with CdLS.Send us Fan MailSupport the showThanks 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.