Dr. Joaquin Espinosa of the Linda Crnic Institute joined the podcast again today to answer a listener question on a recent scientific study published in the prestigious journal of Nature.  https://www.nature.com/articles/s41467-024-49781-1.  Listen as he explains what could one day be the future of personalized medicine in Down syndrome.  Will we one day be able to reliably predict which conditions a person with Down syndrome may be more likely to have? For more information on the Linda Crnic Institute for Down Syndrome: https://medschool.cuanschutz.edu/linda-crnic-institute

For more information on the Human Trisome Project: https://www.trisome.org

If you would like to suggest a topic for us to cover on the podcast, please send an e-mail to [email protected].

If you would like to partner with the Down Syndrome Center, including this podcast, please visit https://givetochildrens.org/downsyndromecenter.

To commemorate the year-end of 2024, Liz Sattler joined us on the podcast.  Liz is a self-advocate who has worked in our Down Syndrome Center for many years.  Liz's position, like all of our roles at the Down Syndrome Center, was made possible through generous philanthropic giving.  We are only able to do what we do at our Center because of ongoing support through 1000s of donors over the years.

If you would like to partner with the Down Syndrome Center, including this podcast, please visit https://givetochildrens.org/downsyndromecenter.

If you would like to suggest a topic for us to cover on the podcast, please send an e-mail to [email protected].

Dr. Victor Morell, Chief of the Department of Cardiothoracic Surgery at the Children's Hospital of Pittsburgh joined the podcast to talk about cardiac surgery in patients with Down syndrome.  He also discussed the new Heart Center buliding that is being constructed and how that will improve the already amazing cardiac care that children receive.

Dr. Diane Langkamp is the Director of the Down Syndrome Program at Akron Children's Hospital.  She joined the podcast to discuss immunizations in people with Down syndrome.  

If you would like to suggest a topic for us to cover on the podcast, please send an e-mail to [email protected].

If you would like to partner with the Down Syndrome Center, including this podcast, please visit https://givetochildrens.org/downsyndromecenter.

Beth Gibson (Executive Director & Founder) and Allison Davis (Program Director) from Buddy Up For Life joined the podcast today to talk about their amazing programs.  

For more information: https://buddyupforlife.org

If you would like to suggest a topic for us to cover on the podcast, please send an e-mail to [email protected].

If you would like to partner with the Down Syndrome Center, including this podcast, please visit https://givetochildrens.org/downsyndromecenter.

Dr. Stephanie Meredith from the University of Kentucky joined the podcast today to talk about her recently published studies showing how bias affects how medical providers deliver the diagnosis of Down syndrome.  She also discusses how her findings on how trust impacts the care delivered to people of Black and Hispanic descent.

For more information:

Resources for new and expectant parents: https://www.lettercase.org

Courses for medical providers: https://www.lettercase.org/education/medical-professionals/

PCORI Resources: https://www.lettercase.org/support-for-black-and-hispanic-new-and-expectant-parents/

Artal JM, Randall L, Rubeck S, Allyse M, Michie M, Riggan KA, Meredith S, Skotko BG. Parents of children with Down syndrome reflect on their postnatal diagnoses, 2003-2022. Am J Med Genet A. 2024 Aug;194(8):e63619. doi: 10.1002/ajmg.a.63619. Epub 2024 Apr 15. PMID: 38619097.  https://pubmed.ncbi.nlm.nih.gov/38619097/

Meredith S, Weiss S, Kleinert HL, Tyrrell CA. The impact of implicit and explicit bias about disabilities on parent experiences and information provided during prenatal screening and testing. Disabil Health J. 2024 Jan;17(1):101514. doi: 10.1016/j.dhjo.2023.101514. Epub 2023 Aug 4. PMID: 37633732. https://pubmed.ncbi.nlm.nih.gov/37633732/

Ijaz MR, Trepanier AM, Kleinert HL, Weiss SM, Meredith SH. Parent-reported genetic counselor adherence to the NSGC practice resource for communicating a potential prenatal diagnosis: Impact on the Down syndrome diagnosis experience. J Genet Couns. 2024 Jul 19. doi: 10.1002/jgc4.1948. Epub ahead of print. PMID: 39031948. https://pubmed.ncbi.nlm.nih.gov/39031948/

If you would like to suggest a topic for us to cover on the podcast, please send an e-mail to [email protected].

If you would like to partner with the Down Syndrome Center, including this podcast, please visit https://givetochildrens.org/downsyndromecenter.

On this podcast, Dr. Vellody addresses the same question that came in from 2 listeners about the role of a Down Syndrome Center?  Why have one?  Are there things that happen at a Down Syndrome Center that are not easily done in a regular primary care visit?

If you would like to suggest a topic for us to cover on the podcast, please send an e-mail to [email protected].

If you would like to partner with the Down Syndrome Center, including this podcast, please visit https://givetochildrens.org/downsyndromecenter.

Shannon Frizzell, MS, RD, LDN leads our Nutrition team at the Down Syndrome Center of Western PA.  She joins the podcast today to answer a listener question on nutritional supplements in Down syndrome.

If you would like to suggest a topic for us to cover on the podcast, please send an e-mail to [email protected].

If you would like to partner with the Down Syndrome Center, including this podcast, please visit https://givetochildrens.org/downsyndromecenter.

Dr. Dusan Bogunovic is the Director of the Center for Genetic Errors of Immunity at Columbia University Medical Center in New York.  He joined the podcast today to share about the intriguing immune system in people with Down syndrome and their increased risk of inflammation and infection.

For more information on Dr. Bogunovic research trial, go to https://www.downsyndromeclinicaltrial.com.

If you would like to suggest a topic for us to cover on the podcast, please send an e-mail to [email protected].

If you would like to partner with the Down Syndrome Center, including this podcast, please visit https://givetochildrens.org/downsyndromecenter.

Jill Rabin joined the podcast today to discuss Baby Led Weaning and what that looks like for someone with Down syndrome. 

For more information: Rabin, Jill, and Gill Rapley. Your Baby Can Self-Feed, Too: Adapted Baby-Led Weaning for Children with Developmental Delays or Other Feeding Challenges. The Experiment, 2022. https://theexperimentpublishing.com/catalogs/fall-2022/your-baby-can-self-feed-too/

www.jillrabin.com

https://www.instagram.com/jillrabinablw/?igsh=MWd5NTFzZmQ0enNwbw%3D%3D&utm_source=qr

If you would like to suggest a topic for us to cover on the podcast, please send an e-mail to [email protected].

If you would like to partner with the Down Syndrome Center, including this podcast, please visit https://givetochildrens.org/downsyndromecenter.

The Down Syndrome Center of Western Pennsylvania's very own psychologist, Dr. Tarin Santamaria, joined the podcast to help us understand the "alphabet soup" of behavioral support services that are available in the community.