🏃‍♂️ Raising Hope Through Movement – Registration is open... Ready to move with purpose?

💚 Understanding Mortality – An update from our Medical Advisory Committee.

💡 Gene Therapy 101 – Get the facts on gene therapy for Phelan-McDermid syndrome.

🛍 Coming Soon: PMSF gear is coming soon.

🎉 Team Update – Big welcome back to Kelise!

🧬 Clinical Trials Update – What's the latest update on clinical trials?

📚 May Pathways – Master the art of handling insurance and Medicaid denials.

🚀 Plus more inside!

From May 13–25, we’re moving for a mission—raising awareness and funds for individuals with Phelan-McDermid syndrome through our 13-day movement challenge.

Last time, 36 amazing fundraisers made a huge impact. This year, we’re aiming even higher—and we want YOU with us!

🏅 What to Do Before May 13:

✅ Join a Team Today – Choose your connection to PMSF:

• Phelan-McDermid syndrome individual or Parent

• PMSF Board Member

• Family & Friends

✅ Set Up Your Fundraising Page – Use our Fundraising Toolkit

✅ Choose Your Movement – Walk, ride, dance, scoot—move daily or go big on one day

✅ Invite Others – Ask your network to join, pledge, or donate

✅ Help Find Sponsors – Share our Sponsorship Packet with businesses ready to make a difference.

Please note: Fundraising and donations begin May 13—get ready now so you're set to go!

Ready to get started? Register here and help us turn movement into momentum and raise hope for our entire community.💚

In light of the recent losses and after further review of available mortality data in the community, our Medical Advisory Committee (MAC) has revisited their previously published letter regarding mortality. Based on the updated letter from the MAC, we are modifying the language on our website about life expectancy in Phelan-McDermid syndrome.

Notably, the MAC has added the following:

“There is likely an increased risk of early mortality in Phelan-McDermid syndrome with its associated health conditions.”

The MAC had identified the following health conditions associated with early mortality: 

• complications of severe epilepsy
• choking / aspiration, possibly related to catatonia - associated feeding problems
• significant worsening of problems with digestive tract functioning
• presence of a co-existing genetic condition in addition to Phelan-McDermid syndrome

Please see our website for the modified language as well as the updated MAC letter and key resources related to this difficult topic.

Save the Date!

Gene Therapy 101 Lunch & Learn

Save the Date!

We are excited to announce we are partnering with the American Society of Gene & Cell Therapy (ASGCT) to offer a Lunch and Learn on Gene Therapy 101 with Dr. Kimberly Goodspeed, MD, Child Neurologist and Medical Director at Ultragenyx.

We will offer the webinar live on June 3 at 12:00PM ET (9:00AM PT), and a recording will be available after! 

Details regarding registration to follow!

Clinical Trial Updates

We are excited to be able to share a recent update from Jaguar Gene Therapy.

Top 3 Takeaways:

🌟First pediatric patient has been dosed at Mt. Sinai

🌟No treatment-related adverse safety events have been observed

🌟Boston Children's Hospital will be added as a third site

It's Too Soon to Know...

📌...about the gene therapy's efficacy

📌...when the trial will be expanded further (age range, location)

📌...if the gene therapy will be FDA-approved

And don't forget Natural History study is enrolling 12-36 month olds at Mt. Sinai and Rush!

✅ Assistance with travel is available

✅ Great way to initially get involved in research

✅ Provides critical data to compare against gene therapy trial 

On April 15, 2025, Neuren Pharmaceuticals shared a press release about their “productive” Type C meeting with the FDA for the Phase 3 clinical trial of NNZ-2591. The press release also indicated the trial is “on track” to begin this year, and details regarding the trial are to follow.

As the Phelan-McDermid Syndrome Foundation continues to partner with Neuren, we are committed to keeping our community as updated as possible and hope we have more information to share soon!

Get Ready to Represent PMSF

PMSF Team Update

Welcome back, Kelsie Adams!

We are very pleased to announce that Kelsie Adams is back on board as our Operations Coordinator at PMSF. This is a new role for Kelsie, where she can apply her fantastic organizational skills to assist with project planning across all of our strategic objectives (CONNECT, CARE, CURE, and CULTIVATE). Kelsie will also play a central role in planning our 2026 Family Conference, just as she did in 2024! We are thrilled to have her back; please join us in welcoming her to the team.

Join Us for Our Next Pathways Education Series Session!

Tuesday, May 27, at 12 PM ET is the fifth session in our 2025 Pathways Education Series: "Handling Denials from Insurance and Medicaid" with Carla D'Imperio, PMSF Director of Family Support.

Learn how to navigate insurance and Medicaid denials with confidence. This session will cover common reasons for denials, how to file appeals, tips for building strong cases, and next steps after appealing. You'll leave with practical steps and resources to help secure the services and support your child or adult with Phelan-McDermid syndrome needs.

📌 Register now at the link below! This session will be recorded and sent to all registrants.

🎥 Missed a session? Watch past recordings on our YouTube channel.

Have you checked out our latest episodes of the Phelan-McDermid Syndrome Podcast: Sharing Research, Progress, and Hope? This past month, we released:

• Dr. Kristy Johnson - 2024 Awardee of the PMSF Innovation Grant - Part 1
• Dr. Kristy Johnson - 2024 Awardee of the PMSF Innovation Grant - Part 2

Don’t forget to check it out on Spotify or wherever you get your podcasts, as well as our YouTube page!

May Caregiver Support Group Meetings

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

We 💚 Our Sustainers of Hope! 

The Sustainer of Hope monthly donation program provides a steady stream of income that empowers the Foundation to create more robust support programs and research opportunities for the Phelan-McDermid syndrome community.

You can join by using the button below and choosing "Become a Sustainer of Hope. Make a monthly gift" for your gift option.