Phelan-McDermid Syndrome Foundation

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.

Rare Disease Day is one week away!This year, we’re inviting our community to help raise awareness for Phelan-McDermid sy...
02/21/2026

Rare Disease Day is one week away!

This year, we’re inviting our community to help raise awareness for Phelan-McDermid syndrome by sharing their stories and making rare visible.

✔️ Create a customizable one-page summary featuring your loved one
✔️ Add a Rare Disease Day profile frame to your social media photo
✔️ Share trusted Phelan-McDermid Syndrome Foundation resources

Every post, every share, every story matters.

🔗 Get started here by visiting https://pmsf.org/2026-rare-disease-day-phelan-mcdermid-syndrome/

There is still time to sign up for our remaining February Caregiver Support Groups! Please use the link in the comments ...
02/20/2026

There is still time to sign up for our remaining February Caregiver Support Groups! Please use the link in the comments to register. Be sure to read the meeting descriptions carefully before signing up to ensure 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.

Don't miss the American Society of Gene & Cell Therapy’s Empowering Patients 2026: A Cell and Gene Therapies Summit next...
02/19/2026

Don't miss the American Society of Gene & Cell Therapy’s Empowering Patients 2026: A Cell and Gene Therapies Summit next month! This summit is designed to be family-friendly. As cell and gene therapies continue to evolve, it’s critical that patient communities, including the Phelan-McDermid syndrome community, stay informed and engaged!

🗓 March 11-12
⏰ 10:00 AM-1:00 PM ET
💻 Free/Virtual

Over two half-days of accessible learning, you’ll gain:
🔬 Insights into the latest advances in cell and gene therapy
📚 Practical takeaways to support the patient journey
💬 Inspiring case studies and real-world perspectives

Link in the comments.

🎉Big Wins for the Rare Disease Community🎉As we head into Rare Disease Day (2/28), we’re celebrating meaningful progress ...
02/18/2026

🎉Big Wins for the Rare Disease Community🎉

As we head into Rare Disease Day (2/28), we’re celebrating meaningful progress from Congress that strengthens support for rare disease families nationwide.

Here’s what Congress passed:
✳️ Five-year reauthorization of the Rare Pediatric Disease Priority Review Voucher (PRV) Program.
✳️Accelerating Kids’ Access to Care Act.
✳️Extension of Medicare telehealth flexibilities until December 31, 2027.
✳️NIH will receive $48.7 billion for FY26, an increase of $415 million.
Thanks to our advocacy partners including National Organization for Rare Disorders (NORD) and Everylife Foundation for Rare Diseases.

Together, we move research forward and expand access to care. 💚

02/16/2026

We’re so happy to welcome Robbie Baker as PMSF’s new CEO! 💚

To kick things off, we created a short, fun video so our community can get to know Robbie as he begins listening, learning, and settling into his new role.

As Board Treasurer, Mike Cento shared:
“Robbie is a strong leader, and I believe his care and compassion for our community will be evident in his leadership.”

Rare Disease Day is just two weeks away!There are more than 7,000 rare diseases worldwide, affecting approximately 300 m...
02/14/2026

Rare Disease Day is just two weeks away!

There are more than 7,000 rare diseases worldwide, affecting approximately 300 million people, and Phelan-McDermid syndrome is one of them.

On February 28, we’ll join the global rare disease community to raise awareness, share stories, and make rare visible. In the coming weeks, we’ll be sharing ways you can participate, including new tools to help amplify your voice.

Together, we can advance research, improve care, and strengthen support for families of loved ones living with Phelan-McDermid syndrome.

🔗 Learn more by visiting https://pmsf.org/2026-rare-disease-day-phelan-mcdermid-syndrome/

✴️It’s Seizure Action Plan Awareness Week ✴️It's an essential time to spread awareness about the importance of Seizure A...
02/12/2026

✴️It’s Seizure Action Plan Awareness Week ✴️

It's an essential time to spread awareness about the importance of Seizure Action Plans (SAPs) and how they can make a difference in emergencies.

Seizures and epilepsy affect approximately 40% of individuals with Phelan-McDermid syndrome, so it is important to create a Seizure Action Plan and share it with your family, friends, caregivers, medical team, therapists, and others.

Seizures are medical emergencies, and a personalized SAP acts as a safety guide during these critical moments. It provides tailored guidelines on how to respond during a seizure based on the individual's medical history. SAPs should be updated at least once a year.

What goes in a Seizure Action Plan?
✳️Seizure information (seizure type, duration, frequency)
✳️Triggers and rescue medications
✳️Relevant medical history and other medications
✳️Seizure first aid and when to call 911
✳️Post-seizure care

Create or update your Seizure Action Plan today! Link to templates in the comments.

And don’t forget to check out the Consensus recommendations on Epilepsy in Phelan McDermid syndrome in the comments.

Let’s work together to spread awareness, improve access to care, and support those affected by seizures and epilepsy.

02/12/2026

🎙️New podcast episode out now!🎙️

🧠Dr. Lauren Schmitt is back with a new podcast episode featuring Dr. Jonathan Santoro from Children's Hospital Los Angeles. Dr. Santoro is the 2025 PMSF Shannon O’Boyle Memorial Neuropsychiatric Illness Grant Awardee.

🦠His project titled,“Diagnostic Biomarkers in Phelan-McDermid Syndrome-Associated Neuropsychiatric Disease,” will explore whether immune system dysfunction contributes to changes in mood and regression seen in Phelan-McDermid syndrome-associated neuropsychiatric illness. In this episode, Dr. Santoro talks about his background as a neuroimmunologist and his plans for this research study.

🎧 Listen now and learn more about how you can participate in the study! Links in the comments!

This week, we are celebrating Feeding Tube Awareness Week®. Tube feeding, also known as enteral nutrition, provides esse...
02/11/2026

This week, we are celebrating Feeding Tube Awareness Week®. Tube feeding, also known as enteral nutrition, provides essential nourishment for people who are unable to eat or drink by mouth—or who need extra support to meet their nutritional needs. There are different types of feeding tubes used to deliver nutrition, and many individuals with Phelan-McDermid syndrome rely on feeding tubes to support health, growth, and quality of life.

Resources available in the comments!

Feeding Tube Awareness Week® is a registered trademark of Oley Foundation.

✨RESCHEDULED: Informational Webinar on the EMERALD Study!✨📅Tuesday February 17, 2026🕗8:00-9:00PM ET (live, recording ava...
02/10/2026

✨RESCHEDULED: Informational Webinar on the EMERALD Study!✨

📅Tuesday February 17, 2026
🕗8:00-9:00PM ET (live, recording available after)

🧠What: Informational webinar on the EMERALD study, which is investigating a new potential treatment aimed at reducing seizures in children and adults with Developmental and Epileptic Encephalopathies (DEEs), including Phelan-McDermid syndrome. This informational webinar will highlight key aspects of the trial and have live Q&A following the brief presentation.

👩🏻‍⚕️Who: presented by Julia Chase and Kelley Del Real from Praxis Medicines

💻How to Attend: Link to registration in the comments
(Already registered? Great! You will receive the updated invite!)

💊EMERALD Study Criteria
2 through 65 years of age
Have received a diagnosis of a DEE by genetic mutation and/or syndrome diagnosis (Phelan-McDermid syndrome is considered a DEE)
Have at least 4 motor seizures (seizures that involve movement) in the 4 weeks prior to screening

❓Got any questions for our presenters? Fill out the form in our comments section!

Hotel rooms are booking fast!We’re already at 60% of our PMSF room block for the 2026 Family Conference, and rooms are f...
02/09/2026

Hotel rooms are booking fast!

We’re already at 60% of our PMSF room block for the 2026 Family Conference, and rooms are filling quickly.

If you’re planning to join us in Aurora, Colorado | July 15–19, 2026, we strongly encourage you to register soon so you can access the PMSF hotel rate.

⏰ Reminder: Early bird registration pricing is available through February 28.

When you register, you can:
✔️ Register for the conference
✔️ Book your hotel through the PMSF room block
✔️ Sign up for daycare or sibling programs (if needed)

✨ Thanks to our incredible sponsors, we’re continuing to enhance the conference experience — more details coming soon.

🔗 Get started and view FAQs by visiting the link in the comments.

✨ NEW ✨ Support Group for Adult Siblings (21+) We’re excited to invite adult siblings (age 21+) of individuals with Phel...
02/06/2026

✨ NEW ✨ Support Group for Adult Siblings (21+)

We’re excited to invite adult siblings (age 21+) of individuals with Phelan-McDermid syndrome to a brand-new support group created just for you.

For the first time ever, PMSF is offering a dedicated space for adults who have a brother or sister with a Phelan-McDermid syndrome diagnosis. This group is a place to connect with others who truly get it, share experiences, and talk openly about the unique challenges and joys of being a Phelan-McDermid syndrome sibling.

✨ This group is open to all adult siblings, whether or not you are a caregiver, including our bereaved siblings.

🗓 Tuesday, February 24
⏰ 2:30 PM
🕒 90-minute session

Please use the link in the comments to register!

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

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