Our Voice Newsletter - March 2023

We live rare every day in our community - Rare Disease Day 2023

Second podcast episode is live, with Dr. Billy Bennett

This month’s podcast - Convos with Dr. Kate - is now available! Available on Apple Podcasts, Spotify, or Google podcasts. Kate interviews Dr. Billy Bennett, a PMS dad, gastroenterologist, and researcher. They discuss two ongoing family engagement research initiatives - the first to improve the genetic counseling experience, and the second to improve the research landscape for GI disorders in PMS. New episodes are released on the 22nd of every month. The full audio is also posted on Youtube where subtitles can be generated. Hope you enjoy!

Listen Here

March Phamily Chat

Please join Carla D'Imperio, our Family Support Specialist, for our third Phamily Chat of the year on Monday, March 27th at 12pm EST. This will be an informal time for parents, guardians, and foster parents of individuals with Phelan-McDermid syndrome to come together and connect. Please submit your ideas for topics in the registration link. You might even make some new friends! Hope to see you there!

Click here to register

Get Ready for St. Patrick's Day with Phelan Lucky

Friday, March 17th is St. Patrick's Day, the official holiday of PHELAN LUCKY so get ready to wear your Phelan Lucky gear! Seeing photos from around the globe of friends, family, and supporters rocking their shamrocks in honor of our loved ones with Phelan-McDermid syndrome is such an incredible reminder that together, we're never alone!

Newly developed drug (JB2) has possible relevance to Phelan-McDermid syndrome

A research team at Northwestern University, led by Dr. Peter Penzes, recently tested a new drug in a laboratory model of Phelan-McDermid syndrome (PMS). It is designed to mimic part of a protein found naturally in our bodies, called “Insulin-like growth factor binding protein 2.” Researchers are hopeful this drug will be helpful in treating Phelan-McDermid syndrome.

Read the Full Story

Have You Heard...

Meet Your Region 2 REP!

Cynthia Schauss is the REP for families in Nebraska, North Dakota, South Dakota, and Minnesota. Cynthia and her husband, Jeff, Iive in Bennington, Nebraska and have two children. Colton is in his final semester of college and Ashlyn participates in a transition program. Ashlyn was diagnosed with a 22q13 microdeletion at age seven.

Cynthia is the admin of the "22q13 Deletion" and "Faces of PMS" pages on Facebook. She is the PMSF Finance Committee Chair and sits on the PMSF Development Committee. Cynthia is a Business Analyst working with HDR Architecture.

2022 Virtual Conference Videos:

The 2022 Virtual Conference App has been closed, so please do not be concerned if you try to access the app and you receive a message stating that “you have been removed from the app by the administrator”.

Thanks to everyone involved, we now have an extensive library of videos on topics that are important to our community!

You may view the recorded videos on our website or on the PMSF Youtube channel.

Sustainers of Hope

The Sustainers of Hope recurring donation program provides a steady stream of income that empowers the Foundation to create more robust support programs and research opportunities for the community.

Thank you to our monthly donors, our Sustainers of Hope.

In honor of Asa Silva, our sweet 7-year-old boy. With love from his parents, Talya and Arturo, along with his big brothers, Ezra and Jonah.

Happy Birthday Adaline! Pops and MiMi love you!

Become a Recurring Donor Today!

On the PMSF Website...

Use the search feature on the PMSF website to access resources - You may use search terms using the spyglass search feature on the website to get access to resources. Here are two examples:

-Search “NF2” or “Ring 22” to get access to publication about these topics

-Search “Advisory” to get access to the important PMS Medical Advisory Committee statements. You may want to upload these to medical records.

Have you checked out the PSMF Resource Library? Here you may access a searchable document library, Youtube video links, and family resource links .

Help us improve the search feature and library. Let us know what resources you are looking for on the website by sending email to Diane at diane@pmsf.org

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