Family Support Blog

PMSF collaborates with Heterogenous registry

By Ronni Blumenthal, Executive Director We recently had an opportunity to spend some time chatting with Patrick Short, CEO of Heterogeneous, based in the UK. We invited him to explain his company and their mission to our families. We look forward to continued discussions about how we can collaborate. We encourage everyone who is ready to send their information to Heterogeneous also take [...]

PMSF leads coalition to increase research

By Mark Vieth PMSF Legislative Advocacy Consultant/Sr. Vice President, Cavarrochi Ruscio Dennis Associates Gastrointestinal (GI) symptoms –such as constipation and reflux -- are one of the top quality of life concerns for individuals with Phelan-McDermid Syndrome (PMS).  To date, little research has been conducted at that National Institutes of Health (NIH) on GI complications for PMS-diagnosed individuals, and for this [...]

Phelan-McDermid Syndrome families inspire zebrafish research study

By Geraldine Bliss PMSF Board Member, Parent If you attended the 2016 or 2018 McPosium, you might remember meeting two young investigators, David James and Robert Kozol, and their mentor, Dr. Julia Dallman from the University of Miami at Coral Gables.  When they attended the 2016 McPosium, they had recently published a paper on a SHANK3 knockdown zebrafish.  Inspired by the stories [...]

Constipation, Diarrhea, and GERD, Let’s Talk About It

By Jackie Jacobs, Family Engagement Specialist Gastrointestinal (GI) issues are quite common among individuals with PMS. A 2013 study of 32 PMS cases found that 44% of individuals reported gastroesophageal reflux disease (GERD) and 38% reported constipation and/or diarrhea (Soorya et. al., 2013). This continues to be a topic of concern and one that requires more research. As a result, […]

Phelan Lucky shirts available ONLY until Jan 28, 2019

By Jen Randolph Fundraising Chair, Mom to Jack January 7th marked the official start of the 6th annual Phelan Lucky campaign to benefit the Phelan-McDermid Syndrome Foundation (PMSF). For those of you who have been ‘lucky’ enough to have experienced a Phelan Lucky campaign in the past, you know that the excitement that surrounds this campaign is contagious and something [...]

Comorbidities of Epilepsy in Persons with PMS: Results from the Rare Epilepsy Network

By Geraldine Bliss PMSF Board Member and mom to Charles In 2014 PMS families whose children have epilepsy were invited to participate in the Rare Epilepsy Network (REN), a registry of rare epilepsies. The REN conducted a study to describe the prevalence and characteristics of comorbidities (the simultaneous presence of two or more chronic diseases or conditions in a patient) [...]

Webinar Series

By Lexi Norris, Media Relations, Lasell College; edited by Jackie Jacobs, Family Engagement Specialist Upcoming Resources for You: Webinars and More The Phelan-McDermid Syndrome Foundation is looking for ongoing activities to provide services to families in the community, and we’re doing so by starting a webinar series! In my recent phone call with Jackie Jacobs, the Family Engagement Specialist, I [...]

Registry Insights

by Sara Tuller, Media Relations, Lasell College PMSF Registry Coordinator, Upcoming Webinar There are many important roles within the Phelan-Mcdermid Syndrome Foundation community including patients, parents, family, researchers, friends, supporters, and volunteers. Genetic counselors are another one of the other roles you can find within the community. We were lucky enough to get some insight on Brittany McLarney, a genetic [...]

PMS Canada

By Stephanie LeClerc, President, PMSF Canada PMS volunteers create PMSF Canada For over a year now, a group of five dedicated volunteers have been pooling their knowledge, investing their time and energy in order to create an organization that will support Canadian families who have a member affected by Phelan-McDermid Syndrome (PMS). We are proud to announce that the Phelan-McDermid [...]

Phelan Lucky

By Jen Randolph, PMSF Fundraising Chair Are you Phelan Lucky this year? Phelan Lucky is set to kick off on the 7th of January and will run for a strict 22 days through the 28th of January. The strict timeline enables us to ship your orders so that you have them for the unofficial holiday of Phelan Lucky, St. Patrick’s Day. [...]
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