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Phelan-McDermid Syndrome Foundation

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Phelan-McDermid Syndrome Foundation

Our official Foundation page aims to raise awareness of Phelan-McDermid syndrome

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.

09/04/2025

🔬 Behind the scenes in the lab: Researchers are finding innovative ways to better understand Phelan-McDermid syndrome, including growing “mini-brains” that help model how Phelan-McDermid syndrome works at the cellular level.

Dr. Alex Shcheglovitov, who has studied Phelan-McDermid syndrome since 2009, shares:

“This work has been deeply meaningful to me because I know many families and patients. My hope is that the discoveries we make in the lab will one day pave the way toward effective therapies for patients.”

This is the kind of science that inspires hope for our families and shows what’s possible when research moves forward.

🎥 Video created by Morgan Nelson, University of Utah.

💡 We’ve launched Driving Research Breakthroughs, PMSF’s new way for you to directly support the research that matters most to families. 100% of every gift goes directly to competitive grants that bring us closer to treatments and cures.

🔗 Donate today: link in comments

09/03/2025

🔹 Gut Motility Blue-Dye Test is Now Recruiting! 🔹

PMSF Translational Grant winner Dr. Julia Dallman and her team are enrolling participants in a study on gut motility in Phelan-McDermid syndrome.

🧁 Participants will eat two muffins with blue food coloring to see how long it takes to pass through the digestive system 💩.

Study details:
🔹 Ages 4+
🔹 At-home only — no travel required
🔹 Must eat by mouth (tube-fed will be included in a future phase)
🔹 Muffins are gluten-free
🔹 Symptoms tracked with the PMSF-funded STRiPES Symptom Tracker app

👉 Interested? Find the REDCap enrollment link in the comments.
👉 Watch Dr. Dallman’s video in the comments to learn more.
🎙️ And don’t miss our podcast episode with her!

09/02/2025

🎙️ New podcast episode out now featuring Megan O’Boyle!🎙️

When her daughter Shannon was diagnosed with Phelan-McDermid syndrome in 2001, Megan O’Boyle’s journey to advance research began. Her advocacy helped launch the first patient registry and the Shannon O’Boyle Memorial Neuropsychiatric Illness Grant, both of which continue to shape research and care today.

In this episode, Megan joins Dr. Lauren Schmitt to reflect on her family’s impact and to introduce Driving Research Breakthroughs, PMSF’s first dedicated research fund. This new opportunity ensures every gift goes directly to science, while unrestricted donations will always remain essential to every part of PMSF’s mission.

🔗 Listen now on YouTube or Spotify
🔗 Learn more about the 2025 Shannon O’Boyle Memorial Neuropsychiatric Illness Grant
🔗 Learn more about Driving Research Breakthroughs: funding research treatments, and cures for Phelan-McDermid syndrome

09/01/2025

This Labor Day, we honor the tireless work of caregivers, families, researchers, and professionals who dedicate themselves every day to improving the lives of those with Phelan-McDermid syndrome. 💚 Your efforts and commitment do not go unnoticed.

08/31/2025

💚 Thank you! 💚

As the 9th Annual Halfway to St. Pat’s Day PHELAN LUCKY campaign comes to a close, we are so grateful to Jen Randolph for her incredible work in making this campaign possible, and to our amazing community for coming together once again.

Thanks to you, we hit minimums, made this campaign a success, and raised awareness of Phelan-McDermid syndrome while supporting the work of PMSF. 🍀

We can’t wait to see your gear out in the world on Awareness Day, October 22! 💚👕
Phelan Lucky

08/30/2025

📸✨ Show us your smiles!

We’re collecting photos & videos from families to spotlight the joy, strength, and everyday moments in our Phelan-McDermid syndrome community. 💚

Your submissions may be featured in upcoming campaigns (including Giving Tuesday), on our website, and across social media. By submitting, you give PMSF permission to use your photos and/or videos in our communications and campaigns.

👉 Upload to the link in comments.

08/29/2025

We are pleased to share the meeting dates and registration links for our September Caregiver Support Groups. Please be sure to read the meeting descriptions carefully before you register 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. All groups are 90-minutes long and are NOT recorded. If you have any questions, please email our Director of Family Support at carla@pmsf.org.

08/28/2025

👨‍👩‍👧‍👦 New Research Opportunity for Phelan-McDermid Syndrome Families

Help refine a tool that could improve clinical trials for individuals with Phelan-McDermid Syndrome!

The Refining a Clinical Global Impression Scale for Use in Persons with Phelan-McDermid Syndrome study is being led by Dr. Anne Wheeler (RTI International).

Who Can Participate?
• Must include two caregivers of an individual aged 3-14 years with Phelan-McDermid syndrome
• Self-reported diagnosis of their loved one with Phelan-McDermid syndrome by a health care provider
• Age 18 years or older
• Fluent in English (able to speak, read, and understand)
• Must have access to a reliable, high-speed internet connection to accommodate virtual interviewing via teleconferencing
• Must have a computer with a screen large enough to easily view documents via screen sharing
• Willing to be audio recorded during the interview
• Caregivers currently participating in the associated Neuren clinical trial are not eligible to participate in the current study.

💻 How It Works:
🕒 About 5 hours total
📄 Complete forms online or by mail (FedEx)
📞 Includes a few short phone interviews
📝 Assess your loved one’s functioning at multiple time points using the Caregiver Impression of Change (CIC) tool

💵 Compensation:
Earn $75 per completed form (up to $225 total)

📧 Interested? Contact the research team to enroll:
Sean Halpin: snhalpin@rti.org
Emily Cheves: echeves@rti.org

08/27/2025

🧠 New Blog Post: SPACES Webinar Series Recap

The Phelan-McDermid Syndrome Foundation was proud to co-sponsor the six-part SPACES (Supporting People with Autism and Catatonia through Education and Support) webinar series. Catatonia is a complex, often under-recognized condition that can significantly impact individuals with autism, including individuals with Phelan-McDermid Syndrome.

In our latest blog post, we recap key takeaways from each session. Read the full recap and revisit the insights that are helping drive awareness, early diagnosis, and effective treatment.

08/26/2025

Clinical Trial Update!

Today, Neuren Pharmaceuticals announced the initiation of the first
investigational site in the United States for its Phase 3 clinical trial of NNZ-2591 in Phelan-McDermid syndrome. This is the first ever Phase 3 trial in Phelan-McDermid syndrome! The randomised, double-blind, placebo-controlled trial will assess treatment for 13 weeks in approximately 160 children aged 3-12 with Phelan-McDermid syndrome.

To read more, visit the link in comments.

08/25/2025

We are heartbroken to share the loss of Avyanna Shinn, two-year-old daughter of Amanda Dailey and Cameron Shinn. Avyanna passed away suddenly on Thursday.

Avyanna was a happy little girl whose laughter lit up the room and she brought a smile to the face of everyone she met. Despite her complex medical needs, she loved life and especially enjoyed being at the beach with her family and being close to family pets. She showed strength and joy beyond her two years, even in the face of great adversity.

Please hold the Dailey/Shinn family in your thoughts as they cope with the loss of their precious daughter. If you need support from our team during this time, please reach out to us at info@pmsf.org.

08/22/2025

We hope you will join us for our September Pathways Education Webinar, “Coping strategies for the Phelan-McDermid Syndrome Caregiver”.

Caring for an individual with Phelan-McDermid syndrome is full of challenges. You may feel isolated and “in the trenches”. Join Kiley Richards, LISW, to learn concrete strategies for coping with the challenges of caring for a loved one with this rare diagnosis.

This webinar is coming up on Tuesday, September 23rd from 2pm to 3pm ET. Please use the link in the comments to register for the session. Please note that most of this session will be pre-recorded. When you register, you will have the opportunity to submit your questions for the facilitator in advance of the session.

Address

8 Sorrento Drive
Osprey, FL
34229

Opening Hours

Monday	9am - 5pm
Tuesday	9am - 5pm
Wednesday	9am - 5pm
Thursday	9am - 5pm
Friday	9am - 5pm
Saturday	9am - 5pm
Sunday	9am - 5pm

Website

http://www.pmsf.org/

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