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.

⚡ Don’t Forget! Jaguar is looking for participants for the Early Childhood Natural History Study!🧠This study aims to gai...
11/19/2025

⚡ Don’t Forget! Jaguar is looking for participants for the Early Childhood Natural History Study!

🧠This study aims to gain a better understanding of individuals with Phelan-McDermid syndrome so that effective treatments and interventions can be used.

✈️Travel stipends may be available through Phelan-McDermid Syndrome Foundation.

📝Eligibility:
• Ages 12-36 months
• Individuals with either deletions or sequence variants of SHANK3

📍Enrollment: To learn more, please contact your nearest site.

Boston Children’s Hospital (Boston, MA)
Contact: Anna Cronin
Email: anna.cronin@childrens.harvard.edu

Icahn School of Medicine at Mt. Sinai (New York, NY)
Contact: Serena Cai
Email: serena.cai@mssm.edu

Rush University Medical Center (Chicago, IL)
Contact: Madison Nava
Email: madison_t_nava@rush.edu

It’s a special kind of hope that sparks when newly diagnosed families discover our PMSF community 💚 They are welcomed in...
11/18/2025

It’s a special kind of hope that sparks when newly diagnosed families discover our PMSF community 💚 They are welcomed into a warm network of support AND they also gain access to diagnosis-specific resources and cutting-edge research throughout their journey.

Because no family walks this path alone. On , your donation helps Phelan-McDermid Syndrome Foundation (PMSF) reach more families, provide more support, and fuel more joy.

Every donation will be matched up to $25,000! That means your impact goes twice as far to:
💚 Support more diagnosed families
💚 Provide vital educational resources
💚 Advance research that brings us closer to treatments and cures

From now until Giving Tuesday, please consider giving a gift of $22 or more to help us support more families living with Phelan-McDermid syndrome.

👉 donate.pmsf.org

We extend our deepest condolences to the Mitchell family as we share the news of the loss of their beloved son, Kyle, ag...
11/14/2025

We extend our deepest condolences to the Mitchell family as we share the news of the loss of their beloved son, Kyle, age 32. Kyle will be remembered for his infectious laughter, his love for his family, and his deep faith.

Despite the challenges he faced, Kyle was an avid bowler, enjoyed music and food passionately, and found pure joy in the simple pleasures of life. He was the very heart of his family, who misses him so much.

Please hold the Mitchell family in your hearts as they mourn the immeasurable loss of their precious son, Kyle.

🌟 Research Opportunity for Phelan-McDermid Syndrome Caregivers! Your experience matters, and it could help shape the fut...
11/13/2025

🌟 Research Opportunity for Phelan-McDermid Syndrome Caregivers!

Your experience matters, and it could help shape the future of clinical trials for Phelan-McDermid syndrome.

Researchers at RTI International, led by Dr. Anne Wheeler, are inviting caregivers to join a new study testing the Caregiver Impression of Change (CIC) form, a simple way to share your perspective on how your child’s condition changes over time.

What’s Involved:
Complete the CIC form 4 times (baseline, 2 weeks, 3 weeks, and 13 weeks after baseline)
About 5 hours total time commitment

Who Can Participate:
Caregivers who are 18+, have child with Phelan-McDermid syndrome between 3-14, live in the U.S., and speak English

Important: families enrolled in a Neuren clinical trial are now eligible!

📧 To learn more or sign up, contact Emily Cheves at echeves@rti.org

🏁Last Call - Participate in Rare Epilepsy Quality of Life (QoL) Survey Project November is National Epilepsy Awareness M...
11/12/2025

🏁Last Call - Participate in Rare Epilepsy Quality of Life (QoL) Survey Project

November is National Epilepsy Awareness Month
🟢One way to increase awareness is by increasing representation of Phelan-McDermid syndrome in rare epilepsy research
🟢UCB is trying to better understand the lived experiences of families affected by rare epilepsies
🟢The survey will close on November 15, 2025 – so get your voice heard now!

Click the link below to directly access the survey!

Today, on Veterans Day, we honor and thank all who have served in the armed forces. Your courage, dedication, and sacrif...
11/11/2025

Today, on Veterans Day, we honor and thank all who have served in the armed forces. Your courage, dedication, and sacrifice protect the freedoms we hold dear and inspire us every day.

To all veterans and their families within our Phelan-McDermid syndrome community and beyond, we see you, we thank you, and we stand with you. 💚

📢 We want to hear from you! 🗳️As we plan the 2026 PMSF Family Conference, we want your valuable insights on which topics...
11/10/2025

📢 We want to hear from you!

🗳️As we plan the 2026 PMSF Family Conference, we want your valuable insights on which topics you want to see covered in our sessions!

👉 Click the link in our bio/below to access the survey.

⛰️Your responses will play a significant role in ensuring that this conference is informative, engaging, and empowering for everyone–after all, this is “The Climb We Make Together”.

✨Act fast and get your responses in by Friday, 11/14, to make sure your priorities are heard!

We hope you will join us for our November session, “Nutrition and Phelan-McDermid syndrome." This webinar will take plac...
11/10/2025

We hope you will join us for our November session, “Nutrition and Phelan-McDermid syndrome." This webinar will take place on Thursday, November 13 at 12pm ET. Learn about the basics of good nutrition for individuals with Phelan-McDermid syndrome, including supplements, GI symptoms, and maintaining a healthy weight.

This webinar will be facilitated by Chardell Buchanan, MS RDN. Chardell is a Registered Dietitian Nutritionist, a Director on PMSF’s Board of Directors, and mom to Ben, her son who has Phelan-McDermid syndrome.

Please use the link in the comments to register for this session!

Did you know? November is National Family Caregivers Month, which is a time to honor and recognize the millions of famil...
11/07/2025

Did you know? November is National Family Caregivers Month, which is a time to honor and recognize the millions of family caregivers in the United States who provide care for loved ones with disabilities or chronic illnesses.

This year’s theme is “Plug-in to Care” with a focus on connection to help caregivers easily connect to vital support tools, networks, and educational resources. You can learn more by visiting caregiveraction.org.

📢 Research study alert: ROSCO Study!Are you a parent or caregiver of a child or teen with Phelan-McDermid syndrome and l...
11/06/2025

📢 Research study alert: ROSCO Study!
Are you a parent or caregiver of a child or teen with Phelan-McDermid syndrome and limited spoken speech? Join the ROSCO Study (Rapid Online Sample of Communication for Individuals with PMS), led by Dr. Kristy Johnson.

💡This study is supported by the 2024 PMSF Innovation Grant!

What’s Involved:
✅ Virtual or in-home sessions
✅ 4 visits over 6 months
✅ Only ~15 minutes of participation per visit from the individual with Phelan-McDermid syndrome

Who Can Join:
Parents/caregivers of individuals with Phelan-McDermid syndrome
Located in the United States
Ages 4-18 with fewer than 200 spoken words
English-speaking household
Not deaf or hard of hearing

Help researchers better understand and track communication in Phelan-McDermid syndrome.

💬Your voice matters!

📧 Interested? Respond to the survey to see if you are eligible!

New Blog Post! Together We Are Mighty: Attending the 2025 NORD Breakthrough Summit🌟Last month, Meagan Hutchinson represe...
11/05/2025

New Blog Post! Together We Are Mighty: Attending the 2025 NORD Breakthrough Summit

🌟Last month, Meagan Hutchinson represented Phelan-McDermid Syndrome Foundation at the 2025 NORD Rare Diseases Summit in D.C.! She came back inspired after a few days of science, networking, and advocacy.

Check out her reflections on the conference and explore valuable NORD resources available to the rare disease community!💚

We are pleased to share the meeting dates and registration links for our November Caregiver Support Groups. Please be su...
10/31/2025

We are pleased to share the meeting dates and registration links for our November 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.

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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