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.

🍽 New blog on Nutrition and Phelan-McDermid SyndromeIn a recent study, over 75% of individuals with Phelan-McDermid synd...
12/18/2025

🍽 New blog on Nutrition and Phelan-McDermid Syndrome

In a recent study, over 75% of individuals with Phelan-McDermid syndrome experienced GI challenges, highlighting the importance of proper nutrition. Phelan-McDermid Syndrome Foundation has launched Nutrition Guidelines which offers practical guidance on diet, vitamins, and managing common GI symptoms. This guide was created by Chardell Buchanan, MA, RDN with consultation from Cara Dubinsky, MS, RDN, CDN. This guide has been reviewed and approved by the Phelan-McDermid Syndrome Foundation Medical Advisory Committee (MAC).

✨ Key tips include balanced meals, adequate vitamins, hydration, and strategies for constipation, reflux, and feeding challenges.

Check out the blog in the comments!

Don’t forget to watch the Pathways Education Series on Nutrition and Phelan-McDermid Syndrome (link in comments)!

✨ Thank You to All of Our Amazing Families! Throughout 2025, families like yours participated in over 15 research studie...
12/17/2025

✨ Thank You to All of Our Amazing Families!

Throughout 2025, families like yours participated in over 15 research studies. Your contributions are making a difference in advancing our understanding of Phelan-McDermid syndrome and paving the way toward treatments and outcome measures. Your time, effort, and willingness to share your experiences are truly invaluable. We are grateful for your continued support and dedication to research!

And THANK YOU researchers, for being dedicated to Phelan-McDermid syndrome!

🧬Here’s to another year year filled with scientific breakthroughs and discoveries!

Learn more about how you can participate in research- link in comments!

🔊PMSF is excited to announce the first ever Phase 3 clinical trial in Phelan-McDermid syndrome is now active. The Neuren...
12/15/2025

🔊PMSF is excited to announce the first ever Phase 3 clinical trial in Phelan-McDermid syndrome is now active. The Neuren medical team is available to answer your recruitment and enrollment related questions on the Koala study.

🐨 “Koala” is a Phase 3 randomized double-blind placebo-controlled clinical trial evaluating NNZ-2591 treatment in children aged 3 to 12 years with Phelan-McDermid syndrome. To learn more, check out Neuren's following slides and our blog post (link in comments). Or, visit clinicaltrials.gov!

📌 Please reach out to medicalinformation@neurenpharma.com for all enrollment and recruitment related questions!

Our mission is to remain objective in providing information to the Phelan-McDermid syndrome community; we do not endorse any particular treatment, therapy, clinical trial, or product. Participation in a clinical trial is a personal decision, and families are encouraged to discuss potential participation with their loved one’s healthcare team.

📢 Calling all of our parents, guardians, and primary caregivers! 📢Don't forget to sign up for this month's caregiver sup...
12/12/2025

📢 Calling all of our parents, guardians, and primary caregivers! 📢

Don't forget to sign up for this month's caregiver support groups. There are still three meetings left this month. Hope to see you there!

Please use the link in the comments to register. Be sure to read the meeting descriptions carefully before you sign up 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.

🎉 BIG NEWS! 🎉The Natural History Study has been funded for a third cycle!Check out our latest blog post for the newest u...
12/12/2025

🎉 BIG NEWS! 🎉

The Natural History Study has been funded for a third cycle!

Check out our latest blog post for the newest updates on the Natural History Study, including this exciting funding announcement and a summary of the latest podcast episode, “Behavior, Cognition, and Beyond.”

Don’t forget — you can listen on your favorite podcast platform or watch on the PMSF YouTube page (link in comments)!

🪽Calling all caregivers with loved ones 2-12 years old! Join the WINGS Study!🪽WINGS - or Web Intervention for Parents of...
12/10/2025

🪽Calling all caregivers with loved ones 2-12 years old! Join the WINGS Study!🪽

WINGS - or Web Intervention for Parents of Youth with Genetic Syndromes - is still enrolling! Drs. Latha Soorya and Allie Wainer as well as their study team at Rush University have put together a helpful video to learn more about the study and what participation looks like for your family.

Key Details
💚 Loved one with Phelan-McDermid syndrome ages 2-12 years old
🔑 Telehealth intervention targeting challenging behaviors
💻 100% Virtual/In-home
👩🏻‍⚕️60-minute weekly therapy sessions with licensed clinician

Check out the video as well as the study website for additional details - link in comments!

📣 Exciting News from PMSF!We are thrilled to welcome Robbie Baker as our new Chief Executive Officer, officially joining...
12/09/2025

📣 Exciting News from PMSF!

We are thrilled to welcome Robbie Baker as our new Chief Executive Officer, officially joining PMSF full-time in mid-January.

Robbie brings three decades of leadership experience in patient advocacy, fundraising, and scientific partnerships. His background and passion for community-focused work will help guide PMSF into an important new chapter.

Read more about Robbie and this important milestone by visiting the link in the comments.

Please join us in welcoming Robbie to the PMSF community! 💚

We are heartbroken to share the loss of Morgan "Pie" Heidrich of Florida. In the words of her family, Morgan's "journey...
12/08/2025

We are heartbroken to share the loss of Morgan "Pie" Heidrich of Florida. In the words of her family, Morgan's "journey was marked by courage, sweetness, and a spirit that taught others how to love with patience and depth."

We extend our love and our condolences to Morgan's family as they face this unfathomable loss. If you are in need of support from our team, please reach out to us at info@pmsf.org.

NurseNat Rose

12/04/2025

🎙️Dr. Schmitt is back with a new podcast episode!

Behavior, Cognition, and Beyond: Updates from the PMS Natural History Study with Drs. Audrey Thurm and Latha Soorya

We are so excited to have the opportunity to interview two amazing psychologists, Drs. Audrey Thurm (Boston Children’s Hospital) and Latha Soorya (Rush University) for this episode! They will discuss key findings from the NIH-funded Natural History Study in Phelan-McDermid syndrome, including intellectual disability profiles, daily living skill growth, regression, and how caregiver input drives research. Learn how these discoveries are guiding clinical trials, behavioral therapy, and everyday care!

And stay tuned for the companion blog post!

You can tune in to wherever you listen to podcasts or watch on our PMSF YouTube page (link in comments)!

💚 Thank you—we did it! 🎉Thanks to you, we raised $77,000 in ONE DAY for PMSF families!Because of your support on , fami...
12/03/2025

💚 Thank you—we did it! 🎉

Thanks to you, we raised $77,000 in ONE DAY for PMSF families!

Because of your support on , families living with Phelan-McDermid syndrome now have trusted clinical resources, groundbreaking research, and a caring community ready to welcome them from day one.

You’ve shown families that this community is strong, passionate, and full of hope.

Today, we celebrate the incredible difference you’ve made for the Phelan-McDermid syndrome community. We’re so grateful for your belief in what’s possible for PMSF.

Final hours! 💚✨We’re in the last stretch of Giving Tuesday—and thanks to you, we’ve already raised $66,000. We've hit ou...
12/03/2025

Final hours! 💚✨

We’re in the last stretch of Giving Tuesday—and thanks to you, we’ve already raised $66,000. We've hit our $30,000 match and surpassed our stretch goal of $65,000!

Now, let's do our best to finish strong with a final push to $70,000. We can do it!

Your gift tonight can help us finish strong and fuel even more support for PMSF families.

Right now, families are counting on us. New families are receiving diagnoses every day, and families further along their journey continue to navigate complex medical, behavioral, and emotional needs. Your support ensures that no one walks this path alone.

Your donation powers PMSF’s First 100 Days program, expands trusted clinical and neuropsychiatric resources, strengthens caregiver support, and fuels research bringing real hope for treatments and cures.

If you haven’t given yet, now is the moment. Let's cross the finish line together. 💚

👉 https://donate.pmsf.org

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