New Diagnosis
You Are Not Alone
Welcome to the Phelan-McDermid Syndrome Foundation. We are glad you found us. As parents of children living with Phelan-McDermid syndrome, we know how those first hours and days after receiving a diagnosis feel. Maybe getting this diagnosis wasn’t something you saw coming, and it feels heavy and uncertain. Or perhaps you’ve been on this journey, searching for answers, for a long time and it feels like a relief to finally have an answer. You surely have many questions, and receiving a rare diagnosis can cause feelings of isolation and loneliness. Most likely, your doctor wasn’t able to tell you much about Phelan-McDermid syndrome, or if they did, you heard about limitations.
Don’t let this news or the diagnosis limit your child. Kids with Phelan-McDermid syndrome are strong, beautiful and surprise us every day with what they accomplish. Our families around the world are experts, they know what living with this diagnosis means.
When you are ready to learn more, here are first steps we encourage you to take:
A Community of Hope
We never forget the day our loved one was diagnosed. It can feel overwhelming, scary and, like the end of so many dreams for your child. But know that the shock and the grief will fade. It is going to be ok. There is still happiness to come, and more than that, there is hope and life.
We encourage you to connect with families who have been walking this road for some time. They can share so much about the wonderful things our kids can accomplish, how they smile and have a sense of humor uniquely their own, that they enjoy horseback riding, surfing, playing soccer, that they have favorite movies and can be masters at navigating an iPad. They are tough and resilient and are the hardest workers in the room. They are the common thread that brings us together, and we are stronger and better for having them in our lives.
Our Children Are Beautiful
Our kids are such lights in our world! They are beautiful inside and out. If the diagnosis came as a shock, it is easy to forget that even though your world feels broken and so very hurt, nothing has actually changed for your child. They are still the same precious person they were before getting a named diagnosis. Who they are does not depend on a label.
Our children are so much more than the sum of their genes. Each one is unique and beautiful and gifted in their own way. And many of our families will tell you that while we would give anything to make their genes whole and perfect, we are still grateful for every accomplishment, every milestone. For all the good things that are still to come.
"I used to obsess over milestones… We learned while waiting for the big stuff to happen to also celebrate the “inch stones” that come in between."
Latest Research
We are fortunate to live in an exciting time for science and medicine. At every moment of the day, somewhere around the world is an incredibly gifted doctor, scientist or researcher working hard to find treatments for our loved ones. Like us, they are working every single day to make today better and the future brighter for everyone living with Phelan-McDermid syndrome. We are standing right beside them, funding their research, driving research breakthroughs and advocating for you and your family.
See Latest Research
Family Support
More than anything, take heart that you are not in this alone. The Phelan-McDermid Syndrome Foundation (PMSF) works to connect families from all over the world. Our community will understand your struggles, celebrate your accomplishments and be a source of wisdom and comfort. Our families are our strongest asset and our biggest advocates. When we gather together for our biennial conferences it is a sweet reunion and a wonderful opportunity to connect with hundreds of other families. We are all in this together and there is a special kinship amongst those who intimately understand your walk.
The PMSF staff and our regional representatives (REPs) from around the world are passionate about connecting and welcoming new families. We can help find local resources, connect you with other families in your area, find someone who speaks your language, or shares a current concern. In addition to attending our national conferences, our REPs plan local gatherings for families like Moms Night Out, zoo trips, cookouts and pumpkin patch visits. Though PMS is considered a rare disease, you might be surprised to find another family not too far from you or someone who is experiencing something similar to your current situation.
Contact our Family Support Specialist if you have any questions or concerns. Contact Us
Join Our Community
The Phelan-McDermid Syndrome Foundation has the largest community of individuals and families living with this genetic condition in the world. Our Phelan-McDermid syndrome community grows by nearly one new family a day.
Learn more and join us to find the hope, help and answers you need now.
