Pms Pathways Podcast

On the seventh episode of the PMS Pathways Podcast, Jackie speaks with Sue Lomas. Sue's son Sam was one of the first to be diagnosed with Phelan McDermid Syndrome. She and Jackie speak about what it was like to get a diagnosis where only a handful of families had also received that diagnosis, and the early days of the Foundation. From setting up a non-profit organization, to forming a board, and introducing more and more families to the community. The PMSF has grown significantly since the early 2000's, and Sue shares some of these stories and more! If you have questions or suggestions for future episodes, please reach out to Jackie Jacobs, the Family Engagement Specialist, at jackie@pmsf.org. PMS Pathways Podcast is written, produced and edited by Jackie Jacobs and is a production of the Phelan McDermid Syndrome Foundation. For more information about the Foundation, our programs, and initiatives, please visit our website at www.pmsf.org. Simply click on the player below to listen. You may also select one of

On the sixth episode of the PMS Pathways Podcast, Jackie speaks with Tesi Kohlenberg. Tesi is a mom to a PMS kiddo, but also a physician in her day to day life. From the perspective of both a mom searching for answers and a clinician, Tesi shares with listeners a little about her journey and some tips for speaking to doctors. She provides some background on the healthcare environment and how that shapes many of the choices doctor's make. Tesi provides important insights and recommendations for how to advocate for your child at their doctor's visits, highlighting important questions you want to make sure to ask, as well as how to document a concerning behavior so you can share it with providers. Tesi also briefly discusses the PMS_NCG (the ECHO Project) and a couple of items you can share with your provider if they are interested in participating: Announcing the PMS-NCG, PMS-NCG Intake Form, PMS-NCG Team If you have questions or suggestions for future episodes, please reach out to Jackie Jacobs, the Family Eng

On the fifth episode of the PMS Pathways Podcast, Jackie speaks with Marianne Scott. Marianne is a founder of Dignified Changes and has worked with other parents in Arizona to advocate for legislation that would help get adult changing tables into public bathrooms. We discuss the process of making a change like this at a state level -- how to get the attention of politicians, the importance and viral nature of social media, and how personal it can get. There are also ups and downs with the process -- sometimes you get unanimous support, but other times you have to make tiny changes to how the bills are worded. Marianne provides some great references in this podcast including: Dignified Changes and the Arc If you have questions or suggestions for future episodes, please reach out to Jackie Jacobs, the Family Engagement Specialist, at jackie@pmsf.org. PMS Pathways Podcast is written, produced and edited by Jackie Jacobs and is a production of the Phelan McDermid Syndrome Foundation. For more information about t

On the fourth episode of the PMS Pathways Podcast, Jackie speaks with Dr. Andy Nierenberg, a psychiatrist at Massachusetts General Hospital and Harvard Medical School and Principal Investigator of the Healthy Mind Healthy You study. Many people have heard of the word mindfulness, but what does it actually mean and how do we bring it into our lives? Dr. Nierenberg discusses the benefits of practicing mindfulness and how it can help offset the detriments of stress in our lives. They also speak about mindfulness practices in the context of the family -- how to introduce these concepts to our children, even children with PMS. If you have any questions or would like more information on how to participant in the Healthy Mind Healthy You study, you can contact Jackie via email at jackie@pmsf.org. If you have questions or suggestions for future episodes, please reach out to Jackie Jacobs, the Family Engagement Specialist, at jackie@pmsf.org. PMS Pathways Podcast is written, produced and edited by Jackie Jacobs and is

On the third episode of the PMSF Pathways Podcast, you'll hear from Jen Randolph, mom to Jack, the Membership & Donations Coordinator and Fundraising Chair of the Phelan McDermid Syndrome Foundation. Jackie and Jen dive into the history of the Phelan Lucky campaign and how it has grown from there. They chat about some of the other fundraisers the Foundation does, smaller family grown fundraising efforts, and how to start one of your own. A few resources mentioned in this episode include the main fundraising page, including guidelines around using the PMSF logo, and the Fundraising Toolkit. If you have any questions, you can contact her via email at jen@pmsf.org. If you have questions or suggestions for future episodes, please reach out to Jackie Jacobs, the Family Engagement Specialist, at jackie@pmsf.org. PMS Pathways Podcast is written, produced and edited by Jackie Jacobs and is a production of the Phelan McDermid Syndrome Foundation. For more information about the Foundation, our programs, and initiatives

On the second episode of the PMS Pathways Podcast, Jackie interviews Megan O'Boyle, mom to Shannon and the Principal Investigator of the PMS International Registry. They spend this episode talking about the National Institutes of Health (NIH), the NIH institutes that are most relevant to PMS, and Megan's role in advocating for our community on a national platform. Megan has been appointed to serve on the National Center for Advancing Translational Sciences (NCATS) Advisory Council and she has been appointed to represent NCATS on the Council of Councils. So what is translational medicine, exactly, and why should our families care? Tune into this episode to get those answers. Shortly after this episode was recorded NCATS released an updated "Translational Road Maps" an interactive map of drug discovery, development, and deployment.  If you have questions or suggestions for future episodes, please reach out to Jackie Jacobs, the Family Engagement Specialist, at jackie@pmsf.org. PMS Pathways Podcast is written, p

On the very first episode of the PMSF Pathways Podcast, you'll meet Ronni Blumenthal, the Executive Director of the Phelan McDermid Syndrome Foundation. Ronni has been in this role since January of 2018 and has spent over a year becoming familiar with some of our families, working on new family support initiatives, and even attending the 2018 International Family Conference. Interviewed by our host, Jackie Jacobs, Ronni reflects on her past experiences and how they have prepared her for leading the PMSF. If there's one thing to take away from this, it's that Ronni is incredibly approachable. If you have any questions, you can contact her via email at ronni@pmsf.org. If you have questions or suggestions for future episodes, please reach out to Jackie Jacobs, the Family Engagement Specialist, at jackie@pmsf.org. PMSF Pathways Podcast is written, produced and edited by Jackie Jacobs and is a production of the Phelan McDermid Syndrome Foundation. For more information about the Foundation, our programs, and initia