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.

10/18/2026

Phelan-McDermid syndrome does not look like one thing.

Individuals with Phelan-McDermid syndrome can have very different strengths, challenges, health needs, support needs, and ways of communicating. As Avis explains, they do not all fit into one box.

For Bennett, this has sometimes meant gaining a skill and later losing it. Because he does not communicate with spoken words, that regression can be misunderstood as defiance or a lack of motivation rather than a genuine change in his abilities.

In the second part of their family story, Avis shares why it is so important for providers, therapists, educators, and others to understand how differently Phelan-McDermid syndrome can affect each person.

Greater awareness helps people ask better questions, listen to families, and support each individual based on who they are and what they need.

Watch and share to help someone else understand more.

You Reading This Matters. You Sharing It Matters, Too.

Ask. Learn. Share.

Learn more at pmsf.org/pmsad.

Recognition can change what comes next.A recent study estimates that Phelan-McDermid syndrome may affect approximately 1...
10/17/2026

Recognition can change what comes next.

A recent study estimates that Phelan-McDermid syndrome may affect approximately 1 in 7,300 people. Applied to current population estimates, that could represent approximately 50,000 people in the United States and 1.1 million people worldwide.

Many may remain undiagnosed.

Phelan-McDermid syndrome can affect communication, learning, movement, sleep, behavior, and other areas of health and development. But it does not look the same for everyone, and not every person is recognized early. Genetic testing is required to confirm a diagnosis.

For individuals and families, an accurate diagnosis can open the door to:

đź’š Information and clinical care guidance
đź’š Clinicians familiar with the condition
đź’š Research opportunities
đź’š Support and a community that understands

Greater recognition can help more people find answers, resources, support, and connection.

You Reading This Matters. You Sharing It Matters, Too.

Save this post, share it with someone who should know, and learn more at pmsf.org/pmsad.

Ask. Learn. Share.

📢 FDA Announces New Rare Disease Framework Initiative Earlier this week, the FDA shared plans to improve how treatments ...
10/16/2026

📢 FDA Announces New Rare Disease Framework Initiative
Earlier this week, the FDA shared plans to improve how treatments for rare diseases are evaluated.

🤔 What does this mean?
The FDA recognizes that rare diseases present unique challenges and that the drug approval process should be more flexible and tailored to each disease and its patient population.

What’s next?
âś… The FDA will hold a hybrid public meeting on October 28 to gather feedback from patients, families, industry, and other key stakeholders.
âś… PMSF will submit a response to ensure needs and perspectives of our community are represented.

What can you do?
đź’š Attend the meeting virtually on October 28.
đź’š Share your comments with PMSF’s Chief Science Officer, Dr. Lauren Schmitt at [email protected] in help inform our response.

Links in comments to learn more and register for the meeting

đź’š Spots Are Still Available! Support Group for Newly Diagnosed Phelan-McDermid Syndrome CaregiverA new diagnosis can bri...
10/16/2026

đź’š Spots Are Still Available! Support Group for Newly Diagnosed Phelan-McDermid Syndrome Caregiver

A new diagnosis can bring many emotions, questions, and uncertainties. You don't have to navigate them alone.

Our quarterly support group offers a welcoming, safe, and supportive setting to connect with other caregivers, process emotions, and explore tools for coping with the challenges of a new diagnosis.

Facilitated by Al Freeman, Ph, this closed group is for parents, guardians, and primary caregivers whose child or adult child was diagnosed with Phelan-McDermid syndrome within the past 12 months.

đź“… Wednesday, October 21, 2026
đź•ś 1:30 PM ET

Please register using the link in the comments. We hope you will join us! đź’š

📢 Introducing Marvel Biosciences!💊Marvel Biosciences announced preliminary results showing that MB-204, a type of adenos...
10/15/2026

📢 Introducing Marvel Biosciences!

đź’ŠMarvel Biosciences announced preliminary results showing that MB-204, a type of adenosine receptor blocker, improved multiple behavioral measures in a Shank3 mouse model of Phelan-McDermid syndrome.

🔬This preclinical research study was conducted in collaboration with researchers at the iBraiN Institute in France. These findings add to emerging evidence of MB-204’s potential across diverse models of neurodevelopmental disorders as Marvel advances toward clinical development.

💬 Dr. Lauren Schmitt, PMSF Chief Science Officer shares, “This is an encouraging new treatment approach that adds to the growing pipeline of oral small-molecule therapeutics being investigated for SHANK3-related disorders, including vafidemstat (Oryzon) and BA-102 (NeuroNOS). While these findings are still preliminary, we look forward to learning more about MB-204’s potential for individuals with Phelan-McDermid syndrome and will continue advocating for therapeutic development specifically for our community.”

đź”—Check out the link in the comments to read the full press release.

10/15/2026

🎙️ New podcast episode available!

đź“Ź How do we measure meaningful progress in individuals with Phelan-McDermid syndrome, especially when traditional developmental assessments often miss important milestones? How do we capture meaningful change in clinical trials, especially when traditional measures are not sensitive enough to things that actually matter to our families?

To help answer these questions, Dr. Lauren welcomes Dr. Natasha Ludwig from Kennedy Krieger Institute and Dr. Mary Wojnaroski from Nationwide Children’s Hospital to discuss the Inchstone Project and its latest study, Parents Speak Survey 2 (PSS2).

🎧 Tune into this episode on Spotify, YouTube, or wherever you get your podcasts.

You can learn more about Inchstone and PSS2 in the links in the comments.

DEEP - Community Connections. Transformative Outcomes.

Please read below for an upcoming opportunity from the Child Neurology Foundation for our bereaved families.Willow & Win...
10/14/2026

Please read below for an upcoming opportunity from the Child Neurology Foundation for our bereaved families.

Willow & Wind: Healing Together is a FREE virtual course where families who have lost a child to complex healthcare conditions can access professional, compassionate grief support and connect in a space held with care. Each session is guided by a certified counselor, built on one simple idea: grief is lighter when we carry it together.

New sessions start October 20th - explore the course and sign up today:

https://www.surveymonkey.com/r/Q8F6JHS

After a decade of service to our community, Diane Linnehan, PMSF’s Chief Mission Officer, will retire from her staff rol...
10/13/2026

After a decade of service to our community, Diane Linnehan, PMSF’s Chief Mission Officer, will retire from her staff role on October 30. 💚

As the mother of Courtney, who has Phelan-McDermid syndrome, Diane brings both a deeply personal understanding and the perspective of a caregiver and advocate to her work. Her compassion, leadership, and determination have helped shape PMSF’s programs, strengthen connections, and expand support for individuals and families.

From family support and education to clinical care and research, Diane’s contributions reach across our mission. She also stepped forward as Interim CEO during our 2025 leadership transition, guiding PMSF with care and commitment.

As Diane shared, “Not one day felt like work.”

Her staff role is coming to a close, but her connection to the PMSF community continues. We look forward to sharing a special podcast conversation with Diane soon.

Please join us in thanking Diane and wishing her and her family happiness in this next chapter. Share a memory or a message of appreciation in the comments! đź’š

10/12/2026

Meet Bennett. đź’š

Bennett is 13 years old and, as his mom Avis describes him, a goofball with a lot of energy and joy.

He loves to run, jump, laugh, clap, and spend time with his family. He enjoys going for walks, whether he is walking, running, or riding his adaptive tricycle. He also loves navigating his tablet and watching Paw Patrol in many different languages.

In this first part of their family story, Avis introduces us to Bennett and shares some of the things that bring him joy. She also reflects on how hard he works every day to communicate, move through the world, and find his own ways of doing things.

Phelan-McDermid syndrome is part of Bennett’s story, but it does not define who he is.

Thank you, Avis, for helping us get to know your joyful, energetic, and wonderfully goofy son.

Every story builds understanding. Every share helps someone new discover our community.

You Reading This Matters. You Sharing It Matters, Too.

Ask. Learn. Share.

Learn more at pmsf.org/pmsad.

10/11/2026

What is life with Phelan-McDermid syndrome really like?

There is no single answer because every individual and family has a different experience.

In the final part of Ellie’s family story, Timothy and Molly share an honest look at what daily life is like for their family. It can be complex and challenging, but it is also filled with connection, laughter, love, and all the everyday moments that make Ellie who she is.

Their story does not represent every family’s experience, but sharing it helps others understand that life with Phelan-McDermid syndrome is about so much more than a diagnosis.

Thank you, Timothy and Molly, for helping us get to know Ellie and for sharing your family’s story.

Every story builds understanding. Every share helps someone new discover our community.

You Reading This Matters. You Sharing It Matters, Too.

Ask. Learn. Share.

Learn more at pmsf.org/pmsad.

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8 Sorrento Drive
Osprey, FL
34229

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