CdLS Connections

What does an HDAC8 gene variant mean for someone living with Cornelia de Lange syndrome (CdLS)?

In this episode of CdLS Connections, we explore HDAC8, one of the genes associated with Cornelia de Lange syndrome, and its important role in human development.

HDAC8-related CdLS is a rare, X-linked genetic condition. The HDAC8 gene produces an enzyme involved in regulating proteins that are important for chromosome organization and normal development. Changes in this gene can affect development in different ways, and the clinical presentation can vary considerably from one individual to another.

Understanding the underlying genetic diagnosis can help families and healthcare professionals make more informed decisions about clinical care, developmental support, genetic counselling, and long-term planning.

Topics explored in this episode include:

• What the HDAC8 gene does and its relationship to CdLS.
• How HDAC8-related CdLS differs from other genetic forms of the syndrome.
• Understanding X-linked inheritance and why individuals can be affected differently.
• The importance of genetic testing and interpreting genetic findings.
• Clinical and developmental considerations for individuals with HDAC8-related CdLS.
• The role of multidisciplinary care, individualized monitoring, and ongoing support.
• The importance of research and improving our understanding of rare genetic forms of CdLS.

Whether you are a parent, caregiver, healthcare professional, researcher, or someone living with CdLS, this episode offers an opportunity to learn more about the genetics of CdLS and why understanding the specific gene involved matters.

At the Canadian CdLS Foundation, we believe that knowledge empowers families, strengthens advocacy, and helps individuals with CdLS access the care and opportunities they deserve.

Resources and Helpful Links

Canadian CdLS Foundation

Website: https://www.canadiancdlsfoundation.com

Healthcare resources: https://www.canadiancdlsfoundation.com/healthcare-providers

Know Your CdLS Genes — Canadian CdLS Foundation

An educational brochure to help families understand the different genes associated with CdLS.

https://www.canadiancdlsfoundation.com/_files/ugd/748ccb_32db7a79ba9f4dab83430b03ac525fa8.pdf

CdLS Emergency Care Card — Canadian CdLS Foundation

A practical resource to help communicate important medical information when accessing emergency healthcare services.

https://www.canadiancdlsfoundation.com/_files/ugd/748ccb_fda99607e8d34c99a1168de14590d6d9.pdf

CdLS Foundation (United States)

Website: https://www.cdlsusa.org

CdLS Clinical Management and International Consensus Recommendations

https://www.canadiancdlsfoundation.com/_files/ugd/748ccb_16921ca059e64f2e8311365d8fac3a55.pdf?index=true

Support Our Work

The Canadian CdLS Foundation is a registered Canadian charity dedicated to supporting individuals living with Cornelia de Lange syndrome and their families through education, clinical consultation, advocacy, and community connections.

Your support helps us continue providing educational resources, family support, and the CdLS Connections podcast.

Donate: https://www.canadiancdlsfoundation.com/donate

If you found this episode helpful, please follow CdLS Connections, share it with another family or healthcare professional, and help us raise awareness of Cornelia de Lange syndrome.

Together, we can build a more informed, connected, and supportive CdLS community.

This podcast is intended for education and awareness and does not replace individualized medical advice or genetic counselling.

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.

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

If you would like to donate to continue bringing you stories, content and information we would be grateful: https://www.canadiancdlsfoundation.com/donate

Would 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 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.

Resources & Support:

🇨🇦 Canadian & Other Families — Canadian CdLS Foundation
Website: canadiancdlsfoundation.com
Email: [email protected]
Phone: +1-437-734-2357 (CdLS)

🇺🇸 US Families — CdLS Foundation (USA)
Website: cdlsusa.org
Email: [email protected]
Family Service Team: [email protected]
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.

💜 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 picture
• Missense vs. loss-of-function changes, and why the type of change matters
• SMC1A developmental and epileptic encephalopathy (SMC1A-DEE): seizure types, treatment options, and why seizures can be so hard to control
• X-linked genetics made simple: why SMC1A affects boys and girls differently
• X inactivation, and how it helps explain the wide range of features
• Current research, including new insights into how different gene changes work, and a look at the recent ataluren study
• Q&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 care

Learn 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? [email protected]

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.

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 changes
• Testing for reflux: barium swallow, endoscopy, and pH impedance studies
• Eosinophilic esophagitis (EoE): what it is, why it matters in CdLS, and how it’s treated
• Barrett’s esophagus and why ongoing follow-up into adulthood matters
• Fundoplication: when it helps and what to watch for afterward
• G-tubes and GJ-tubes: deciding together with your care team
• Malrotation and volvulus: why an upper GI study is recommended for every child with CdLS
• Constipation: when to see a specialist, laxative options, and what research shows about MiraLAX safety
• Motility testing and GI red flags
• How to help your care team hear your concerns
• Q&A: gallstones, outgrowing EoE, common EoE food triggers, improving motility without medication, managing secretions, and GJ feeds vs. fundoplication

The 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? [email protected]

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.

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.

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.

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.

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.

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.

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 legacy

Why This Episode Matters

GI 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 advocacy
• Clinicians working with medically complex patients
• Educators supporting students with rare conditions
• Advocates seeking improved awareness and listening within healthcare

This episode bridges lived experience and clinical realities — reminding us that behind every diagnosis is a full and meaningful life.

Support CdLS Education & Awareness

If 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/new

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.