Phelan-McDermid Syndrome Foundation

Phelan-McDermid Syndrome Foundation Our official Foundation page aims to raise awareness of Phelan-McDermid syndrome
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This is the official page of the Phelan-McDermid Syndrome Foundation, a 501 (c)(3) non-profit established by families impacted by a diagnosis of Phelan-McDermid syndrome/22q13 deletion.

🛍️ The PMSF Store is officially OPEN!We’re excited to launch our new year-round PMSF Merchandise Store featuring: 💚 2026...
05/15/2026

🛍️ The PMSF Store is officially OPEN!

We’re excited to launch our new year-round PMSF Merchandise Store featuring:
💚 2026 Conference gear
💚 PMSF awareness apparel
💚 Hoodies, tees, accessories, and more
💚 New designs inspired by community feedback

Last year, families told us they wanted:
✔ More variety
✔ “Phelan-McDermid Syndrome Foundation” spelled out on merchandise
✔ More awareness gear
✔ A permanent store with direct shipping

We heard YOU and made it happen.

You can now shop conference merchandise ahead of the 2026 Family Conference and find everyday PMSF gear to wear year-round.

📦 Items ship directly to your home through Bonfire. Most items arrive within 7–14 business days.

Please note: Registered conference attendees will still receive a complimentary conference t-shirt onsite in Colorado.

👉 Shop now: (link in comments)

Every purchase helps support PMSF’s mission and raise awareness for the Phelan-McDermid syndrome community.

The EMERALD study has officially completed recruitment and enrollment! Thank you to the incredible Phelan-McDermid syndr...
05/14/2026

The EMERALD study has officially completed recruitment and enrollment! Thank you to the incredible Phelan-McDermid syndrome families who participated. 💚

The team at Praxis Precision Medicines shared, “This would not have been possible without you. The trust you've built within your communities, and your willingness to share information about the study with the families, is the reason we're at this point. We know how much care goes into that work, and we are deeply grateful.”

For families who are just learning about relutrigine, or who would like to stay connected for future updates, check out the link in the comments.

Neuren shared the Koala Study site map for active and soon-to-be active sites. The Koala Study is Neuren’s Phase 3 trial...
05/11/2026

Neuren shared the Koala Study site map for active and soon-to-be active sites.

The Koala Study is Neuren’s Phase 3 trial of NNZ-2591 in Phelan-McDermid syndrome for children 3-12 years old.

Interested families can access additional information on their new website (link in comments) as well as on clinicaltrials.gov.

Please note: Due to federal delays, active sites may not yet be listed on clinicaltrials.gov.

Today, we honor every mother and caregiver in the Phelan-McDermid syndrome community. 💚For some, today is filled with hu...
05/10/2026

Today, we honor every mother and caregiver in the Phelan-McDermid syndrome community. 💚

For some, today is filled with hugs, laughter, celebration, and moments of deep love.
For others, Mother’s Day may carry grief, longing, exhaustion, or the ache of missing a child or loved one gone too soon.

Wherever this day finds you, whether joyful, heartbroken, hopeful, overwhelmed, or somewhere in between, you belong here.

We see the mothers advocating through sleepless nights.
The moms learning medical language they never expected to know.
The grandmothers, bonus moms, foster moms, siblings, and caregivers who love fiercely every single day.
And we hold close the families carrying the unimaginable loss of a beloved member of our Phelan-McDermid syndrome community.

There is no single way to experience Mother’s Day.

Today, we celebrate love in all its forms. The quiet strength, the resilience, the tenderness, and the enduring connection that lives within this community.

From all of us at PMSF, we are holding space for every heart today. 💚

We hope to see you at our monthly May Caregiver Support Groups!Please use the link in the comments to register, and be s...
05/08/2026

We hope to see you at our monthly May Caregiver Support Groups!

Please use the link in the comments to register, and be sure to read the meeting descriptions carefully to make sure you choose the right group for you.

These support groups are not individual or group therapy and are not intended to replace direct clinical services. Please note that these sessions are in English. These groups are NOT recorded. If you have any questions, please email our Director of Family Support at carla@pmsf.org.

05/07/2026

The 2026 PMSF Family Conference is just around the corner! 🎉

In this podcast episode, Dr. Lauren sits down with conference co-chairs Carla D’Imperio and Amanda Bergen to share what’s ahead for this year’s gathering in Aurora, Colorado. From the theme “The Climb We Make Together” to exciting sessions on research, clinical care, and community connection, this conference brings families, clinicians, and researchers together like never before! ⛰️🧬💚

Check out the latest episode to hear about all the exciting opportunities at this year’s conference!

Links in the comments!

The Rare Epilepsy Network (REN) is inviting participants to take part in an online survey focused on the real challenges...
05/06/2026

The Rare Epilepsy Network (REN) is inviting participants to take part in an online survey focused on the real challenges, unmet needs, and priorities across the rare epilepsy community. PMSF is proud to be a member of REN and support this important effort.

✅Complete surveys on your own schedule
✅Your responses are fully confidential
✅Open to adults (18+) across all roles (patients, clinicians, researchers, and advocates). Families can respond for their loved ones of any age.

Your voice can help shape future research!

Link to participate in bio/comments!

Questions? Contact info@rareepilepsynetwork.org

💚 Please join us in welcoming our new Chief Development Officer, Kris van Osnabrugge!This week marks an exciting new cha...
05/05/2026

💚 Please join us in welcoming our new Chief Development Officer, Kris van Osnabrugge!

This week marks an exciting new chapter for PMSF. Kris brings more than 20 years of nonprofit fundraising leadership, with a proven track record of building high-impact development programs at some of the country’s most recognized health organizations.

Her expertise spans peer-to-peer and event fundraising, major gifts, corporate partnerships, legacy giving, and donor stewardship. Throughout her career, she has led teams that raise millions annually, secured innovative multi-year partnerships, and consistently exceeded campaign goals, all grounded in a genuine commitment to the people and missions she serves.

As we continue to advance progress across our CONNECT, CARE, and CURE priorities, Kris’s leadership will help strengthen our impact and accelerate what’s possible for this community.

Based in Minneapolis, Kris enjoys life with her husband, Mark, their two kids, Alec and Ingrid, and their dog, Zoe. 🐾

We’re thrilled to have her leading the way forward.

Welcome, Kris! 💚

**Registration is live for the May meetings of our Family Support Groups!**These support groups are not individual or gr...
05/01/2026

**Registration is live for the May meetings of our Family Support Groups!**

These support groups are not individual or group therapy and are not intended to replace direct clinical services. Please note that these sessions are in English. These groups are NOT recorded. If you have any questions, please email our Director of Family Support at carla@pmsf.org.

Explore all of our May support group offerings and sign up for a group by clicking the link in the comments.

04/30/2026

🎙️New podcast with Dr. Lauren is out! 🎙️

In this episode, we dive into groundbreaking cross-species research connecting mice, primates, and humans to better understand perception, learning, and decision-making in Phelan-McDermid syndrome with the ultimate goal of accelerating treatment discovery.

🔬 Featuring Dr. Ben Scott (Boston University) and Amanda Fath (MIT)
🎮 Their simple “Asteroid” game has been adapted so more individuals with Phelan-McDermid syndrome can play!
💬 “All data is good data”. Every participant brings us closer to answers.
👉 Listen now and learn how your family can get involved!

Link to the podcast and our Open Studies page in the comments!

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