Emotional support
You're part of a community that gets it. Connect with families walking the same path.
For families Newly diagnosed?
Newly diagnosed?
You're not alone.
A diagnosis of Phelan-McDermid Syndrome can bring many emotions and questions. We're here to help you take the first steps with confidence — and to connect you with a community that understands.
First steps
Some gentle first steps
Take them at your own pace. There's no rush, and no wrong order.
1
Take a breath
It's normal to feel overwhelmed. Give yourself time to process — support is here when you're ready.
2
Learn about PMS
Understanding the condition helps you advocate. Start with our clear, compassionate overview.
3
Connect with others
Reach out to families who understand. You don't have to navigate this alone.
4
Build your team
Find clinicians and specialists experienced with PMS to support your family's needs.
5
Plan for the future
Every person is unique. We'll help you explore resources and plan what's ahead.
Ways we support you
Support for the whole journey
Education & therapies
Guidance on early intervention, communication (including AAC), and school support.
Coordinated care
Help thinking through the medical team and follow-up your loved one may need.
Practical & financial
Signposting to benefits, services and practical help available where you live.
Find your association
Connect to a national organization near you — or to us directly if there isn't one yet.
Events & meetups
Family conferences and community gatherings to learn, share and belong.
Medical support
Do you need medical support?
PMS is rare, and many doctors will never have seen it before. Two things help most: experts who know the syndrome, and the consensus guidelines that tell any clinician how to care for it.
Clinical guidelines
Evidence-based guidance for PMS care
Written by the clinical and research community, these consensus documents describe how PMS should be assessed and managed across the lifespan. They are the best thing to put in a doctor's hands.
European guidelines
European consensus on PMS management
Consensus recommendations for the assessment and management of people with Phelan-McDermid Syndrome across the lifespan.
Request references North American guidelines
North American consensus on PMS management
Consensus guidelines developed within the North American PMS community for practitioners and specialists.
Request referencesThese guidelines are written for healthcare professionals. They are a good document to share with your child's doctors — and we're happy to connect you with the experts behind them.
No association in your country?
Start a family organization — we'll help
Every association in our directory began with a handful of families who decided not to wait. A patient advocacy organization gives your country a voice, a door for newly diagnosed families, and a seat in PMS GO.
We are preparing a step-by-step guide on how to build one. Until it's published, write to us — we'll put you in touch with an association that has done it.
Talk to us about starting one 1
Find the families
Two or three families are enough to begin. Your national PMS community, social media and your genetics clinic are the usual starting points.
2
Give it a legal form
Most countries have a simple route to register a non-profit association. The founding organizations of PMS GO have all done it — and can share their statutes.
3
Lean on the network
You don't start from zero. PMS GO connects you with associations that have been where you are, and with clinicians who know PMS.
4
Join PMS GO
Once constituted, your organization can become a member — with full voice and vote — and represent your country in the global community.
Real families. Real journeys. Shared with heart.
Family stories Share your story
Every family has a story worth sharing
Stories connect us. They remind newly diagnosed families that there is community, hope and understanding on the other side of that first appointment. We're gathering voices from across our global community — and we'd love to include yours.
The day we got answers
How families process a diagnosis — and find their footing again.
Finding our people
The relief of meeting others who truly understand this journey.
Celebrating every win
The milestones, big and small, that mean the world.
We're here for you
Whenever you have questions, we're one message away.
Families, associations, clinicians and researchers — whoever you are, there's a place for you in the Phelan-McDermid community.