TRANSLATION IN Deutsch, Nederland, Italiano, Francaise, Español,
The Phelan-McDermid Syndrome Foundation is a nonprofit organization that offers support for families who are affected by Phelan-McDermid Syndrome. We connect families through our Web site; our monthly newsletter, PMSF UPDATE; Facebook; Twitter and membership efforts.
Our purpose is to bring together everyone affected by Phelan-McDermid Syndrome to help them through the challenges they face every day and to raise awareness of the syndrome in the medical and research communities. Our mission is “To improve the quality of life of people affected by PMS worldwide by providing family support, accelerating research and raising awareness.”
With new cases being identified every day we have divided our membership into regions. Regional Representatives collect contact information from new families, put them in touch with other families who live nearby and help to plan regional gatherings.
To get the process started, click on the Membership link on the left side of this page. You can also work through your Regional Representative by clicking on the Contact Us link and find the Regional Representatives link under Family Support.
Kontakt in Deutschland
For other International Regional Representatives click here.
Global Partners trip to Europe was moving, fulfilling, a milestone
By Susan Lomas, President, Phelan-McDermid Syndrome Foundation
This trip was long. And, this trip was fabulous. I feel the same way I feel after every conference. Only it was four conferences in a row.
Dr. Katy Phelan and I visited with four international groups on our trip in May 2015. It was wonderful to meet the families. Each group is excited and enthusiastic to learn from us and to collaborate with us. The opportunities we have with each country to share resources, grow research and promote awareness are many. We had our first day-long Global Partner meeting with seven country representatives attending with two on the phone and one additional country rep sending in answers via email.
Our families are passionate. Our families are kind and loving and eager to help not only their own child but all those affected by PMS. Language does not change our bond.
I cannot thank all of our host families enough: Frederique and Francoise in France, Alison and Kelly in the United Kingdom, Carlo, Chiara and Saverio in Italy and Norma and Juan in Spain. We are so ever grateful for your kindnesses and your passion. I also must mention what a pleasure it was to spend time with Rich's Tia and Teo and cousins!
And to those who attended our first daylong Global Partner meeting, thank you for your determination to collaborate and recognize that we are stronger with a unified mission and voice. It is so moving to be determined to create such impact.
An embrace to all of the families. I know some of you are just starting this journey but I hope, after these gatherings, you know, you are not alone.
It has been fantastique, fabulous, fantastico, magnifico!
The most love I want to give is to my husband, Ricardo, and to my Sammy for caring so deeply for this group of families and for so very much for our family that I was able to be away so long.
Merci, Cheers, Grazie, Gracias!
UK families mark first anniversary with business, family meetings
By Alison Turner, PMSF UK president
The Phelan-McDermid Syndrome UK Family Day was May 16, 2015, at Brookfield Primary School in North London. This year, Dr. Katy Phelan the geneticist who discovered this rare deletion, and Susan Lomas, President of the Phelan-McDermid Syndrome Foundation, were in attendance.
We had more than 240 people attend representing 52 families affected by the syndrome from six countries. These families came to meet Dr. Phelan and also other families with children who have this rare genetic chromosome abnormality. PMS affects about 130 people in the UK and Ireland and less than 1,300 people worldwide.
The kids painted T-shirts, learned football skills, bounced on a bouncy castle and many shared glitter tattoos. PMSF UK also launched their new pamphlet about Phelan McDermid Syndrome and how to get involved with the Foundation, the patient registry and where to get UK support. The event also marked the first anniversary of the PMSF UK association.
Local businesses and many friendly volunteers gave up their Saturday to support the event and helped to make it a lovely day. It was very inspiring to be a part of the day and helping PMS families feel supported in their wider community.
The day before the family day, PMSF UK hosted a Global Partnership meeting and 14 delegates represented eight countries (two by phone) as Susan Lomas led discussions on how we can work together globally and support each other. These were fruitful talks as each country has very specific goals and varying regional guidelines about how to offer support to families.
The meeting participants left with action items and a resolve to keep moving forward on Global Partnership for PMS families around the world.