Phelan-McDermid Syndrome Foundation

03/31/2026

The 2026 Giving Challenge is just around the corner: April 15–16. Every gift of $25–$100 will be matched dollar-for-dollar, doubling your impact for PMSF families like Terry and her daughter.

Together, we can unlock special prizes, reach donor milestones, and fuel breakthroughs in research. It’s going to be an exciting day and we hope you join us.

💚 Want to do even more? Create your own fundraiser and help expand our reach.
Get started by visiting our Giving Challenge page and clicking the “Fundraise” button. (link in comments)

The 2026 Giving Challenge is presented by the Community Foundation of Sarasota County with giving strengthened by The Patterson Foundation.

to make rare SHINE!

03/30/2026

👩🏻‍⚕️ Today is National Doctor’s Day

We extend our heartfelt thanks to the physicians who care for and support the Phelan-McDermid syndrome community.

A special appreciation goes to the physicians on our Medical Advisory Committee, Scientific Advisory Committee, and Neuropsychiatric Consultation Group. Your commitment to sharing expertise and advancing care across the PMSF community makes a meaningful difference every day.

Your dedication inspires us, and your compassion truly matters. 💚

📲CALL TO ACTION:
Families - A great way to show your appreciation for your loved one’s doctors is to complete our Healthcare Provider Survey.

This will take 15-30 minutes, BUT this information helps guide us in identifying new Phelan-McDermid syndrome clinic locations and even establishing the next multi-disciplinary clinic.

Link in the comments.

03/27/2026

**Registration is live for the April meetings of our Family Support Groups!**

We are excited to bring back our "Support Group for the Newly Diagnosed Phelan-McDermid Syndrome Caregiver", which is for parents who have received their child's diagnosis in the last 12 months.

Explore all of our April support group offerings by clicking the link in the comments.

03/27/2026

⏰ Last chance for early bird pricing!

Early bird registration for the 2026 PMSF Family Conference closes March 31.
If you’re planning to join us in Colorado this July, now is the time to register and lock in the lower rate before prices increase.

Don’t miss this opportunity to be part of an incredible few days of connection, learning, and community.

➡️ Register now (link in comments)

We can’t wait to climb together. 💚

03/26/2026

🌟 Big news for the PMSF community!

The FIRST multidisciplinary Phelan-McDermid Syndrome clinic is now open at Cincinnati Children’s 💚

🧠 Multiple specialists
📅 One visit
🤝 Coordinated care

Phelan-McDermid syndrome requires team-based care, and this model reduces stress while improving outcomes.

Dr. Ame Shillington (geneticist and clinic director) shares, “Our goal is to make care feel less fragmented and more connected. Families of children with Phelan-McDermid syndrome are often managing complex needs across many specialties, and this clinic brings many pieces together, so parents can focus on their child, not the logistics of navigating healthcare systems.”

Important Notes
🧑There is NO age limit within Cincinnati Children’s genetics
🌎Cincinnati Children’s accepts patients from across the world

👉 Check out the blog post link in the comments to learn more, including how to establish your loved one’s care at Cincinnati Children’s!

03/25/2026

Have you ever heard of basket trials or umbrella trials? Basket trials and umbrella trials are two innovative clinical trial designs that are helping move precision medicine forward.

🧺 Basket trials test how well a single treatment works in patients with different disorders that share similar genetic variants or biomarkers.

☂️In contrast, umbrella trials study multiple treatments within one disorder, grouping patients based on different variants or biomarkers.

💡 Why it matters: These trial designs help researchers move faster and match patients with more personalized treatments. As research evolves, these trial designs could open new doors to more personalized therapies for people living with Phelan-McDermid syndrome in the future.

03/24/2026

✨ Something big is coming! ✨

Mark your calendars for April 15–16th: 24 hours where your gift can DOUBLE THE IMPACT for PMSF families!

The 2026 Giving Challenge is a 24-hour online giving event (April 15–16), and for one day only, unique gifts of $25–$100 will be matched dollar-for-dollar, so every gift goes twice as far for families around the world.

When you create your own fundraiser, every donation through your personal link counts toward matches and prize opportunities, fueling family support, improving care, and accelerating research breakthroughs.

To get started, visit the link in the comments. Once on our Giving Challenge page, click the 'fundraise' button.

Together, we can drive breakthroughs and spread hope for Phelan-McDermid syndrome.

to make rare SHINE!

The 2026 Giving Challenge is presented by the Community Foundation of Sarasota County with giving strengthened by The Patterson Foundation.

03/23/2026

We are grateful to recognize Jaguar Gene Therapy as a Gold Sponsor of the 2026 PMSF Family Conference.

Support from partners like Jaguar Gene Therapy helps bring families, clinicians, researchers, and industry leaders together to share knowledge, strengthen connections, and advance progress for the Phelan-McDermid syndrome community.

We appreciate their partnership and commitment to supporting this important gathering.

Learn more about Jaguar Gene Therapy:
jaguargenetherapy.com

Explore the 2026 Family Conference:
pmsf.org/2026-conference

03/19/2026

Thank you, Dr. Kohlenberg! 💚

Dr. Tesi Kohlenberg is a dedicated member of the Phelan-McDermid Syndrome Foundation community, serving on the Medical Advisory Committee and the Neuropsychiatric Consultation Group. She is a Child Psychiatrist and, most importantly, a mother to her daughter Amadi, who lives with Phelan-McDermid syndrome.

Dr. Kohlenberg generously supports families navigating complex neuropsychiatric challenges, bringing both professional expertise and personal experience to her work through the Neuropsychiatric Support Program. There have been more than 100 referrals to the Neuropsychiatric Support Program!

Reflecting on her journey, Dr. Kohlenberg shares: "When our 14-year-old daughter started having manic episodes, we did not yet know that she had Phelan-McDermid syndrome. Her bouts of illness and her unusual reactions to medications led to her genetic diagnosis, and stretched me far beyond my previous experiences as a child psychiatrist.
Since then, I’ve learned from the community of devoted and persistent Phelan-McDermid syndrome parents, and joined the tribe of researchers and clinicians who deepen our understanding of this complication of Phelan-McDermid syndrome. The Foundation has built a strong team to support families facing these crises, connecting them with each other and with resources that help them advocate for their loved ones. I’m glad to bring what I’ve learned as a mother, a researcher, and a psychiatrist to helping families like ours.”

If you would like to learn more about our Neuropsychiatric Support Program, please reach out to our Director of Family Support at carla@pmsf.org.

03/18/2026

🔆 New Monthly Study Spotlight Series 🔆
Each month, Dr. Lauren will be highlighting one of the openly enrolling studies - sharing brief details about the purpose, eligibility criteria, and steps for participating!

🪽WINGS - Web Intervention for Parents of Youth with Genetic Syndromes
✳️ Led by Drs. Latha Soorya and Allie Wainer at Rush University.
✳️ Comparing two evidence-based, telehealth behavioral interventions.
✳️ Teaching caregivers skills to help manage their loved one’s challenging behaviors.

Eligibility criteria
✅ Aged 2-12 years
✅ Child demonstrates challenging or disruptive behaviors
✅ Caregiver must have English proficiency
✅ Weekly attendance for telehealth sessions
✅ Internet access and tablet/computer to attend sessions

The WINGS study team added, “Thank you for your incredible support for the WINGS study thus far, approximately 20% of enrolled families include PMS children. Enrollment is ending in May 2026 and we are looking for more families to help bring us to the finish line!”

Interested in enrolling? Want more information? Check out the link in the comments.

03/17/2026

The Phelan-McDermid Syndrome Foundation is proud to recognize Profound Autism Day.

Although not every individual with Phelan-McDermid syndrome receives an autism diagnosis, the majority that do, meet the definition of “profound autism”:
💚 Require adult supervision 24/7
💚 Are unable to perform most daily living activities independently, and
💚 Have IQs below 50 and limited ability to verbally communicate their basic needs

Today, we bring awareness about profound autism and support the entire profound autism community.

To learn more about profound autism and the Profound Autism Alliance, check out the links in bio/comments.

Today, we recognize Profound Autism Day across the country.

Why it matters: too many autistic individuals who need care all day, every day are being left behind. Families are stretched to their limits. And the providers, educators, and physicians trained to support them are far too few.

That’s not acceptable.

Awareness leads to action. Action leads to change.
Take a moment today to learn what profound autism really means.




Learn more at https://ow.ly/GI5H50Yvag0

03/16/2026

In the Phelan-McDermid syndrome community, we are a rope team and no one should climb alone.

Inspired by this year’s theme, The Climb We Make Together, the Rope Team Travel Assistance Fund helps individuals and families with Phelan-McDermid syndrome attend the 2026 PMSF Family Conference.

Support may include:
✔️ Conference registration
✔️ Up to four hotel nights
✔️ A travel stipend to help with transportation and related expenses

Applications are prioritized based on financial need and first-time conference attendance.

📅 Application deadline: April 10 at 6:00 PM ET
📢 Recipients notified: April 24

💚 Learn more and apply for travel assistance by visiting the link in the comments.

The Rope Team Travel Assistance Fund is made possible by the DeFlorio family and other generous supporters of the PMSF community.