It is the vision of the PMS Foundation to advocate for families worldwide
affected by PMS and accelerate the search for a cure.
Limited time only!
Put your order in for 2017 Phelan Lucky gear
The 2017 Phelan Lucky campaign is under way and until Feb. 6 you can buy limited edition Phelan Lucky shirts at www.booster.com/phelanlucky2017. Join the hundreds of people around the globe who are Phelan Lucky and raising awareness for those diagnosed with Phelan-McDermid Syndrome.
Curious about which celebrities will be touting the T’s this year? We’re not saying just yet. But, follow us on Facebook (@22q13), Twitter (@PhelanLucky2213) and Instagram (@phelanlucky22q13) to see who and where people are Phelan Lucky in 2017.
Last year’s campaign saw the likes of former New York Giants quarterback Phil Simms, actor and comedian Jeff Garlin, inspirational running duo of Dick and Rick Hoyt, Green Bay Packers’ Justin Perillo, WNBA MVP Elena Della Donne and many more helping us spread the word.
All shirts sell for $25 apiece no matter which style you choose. In 2015, we sold more than 2,700 shirts in all 50 states and 13 countries. Let’s do even better this year!
The shirts are the perfect addition for St. Patrick’s Day and make awesome year-end gifts for all those incredible therapists and doctors you are Phelan Lucky to have in your life.
Also, make sure to tell your friends about our promotion. I can’t tell you how many people see our shirts and say, “I wish I would have known, I would love to be Phelan Lucky too”!
Go here to start your ordering process
PMSF thanks Geraldine Bliss for selfless
dedication to research, raising awareness
The Phelan-McDermid Syndrome Foundation would like to thank Geraldine Bliss for her selfless dedication to advancing research into PMS and raising awareness of the syndrome in the medical and research communities.
Geraldine has officially stepped down as chair of the Research Support Committee after eight years of building critical alliances that brought together academics, clinicians, doctors, researchers and families in collaborative efforts to improve the quality of life of those with PMS, all while dealing with issues surrounding her child, Charles, who is diagnosed with PMS. A tireless volunteer and parent, Geraldine has been hugely instrumental in advancing medical research into the causes of the syndrome and successfully launching initiatives that will shape the future of care for PMS patients.
“Words can't express how much we appreciate the countless volunteer hours Geraldine put in for our families," said Susan Lomas, Acting Executive Director and President of the PMSF Board of Directors. “On behalf of the Board of Directors, I would like to say we are greatly appreciative of everything Geraldine did to advance our cause and support our children."
As Research Support Committee Chair, Geraldine executed two scientific symposia which brought together researchers from around the world to study SHANK3, SHANK3 mutations and other genes as causes of PMS and autism. She planned the highly popular Phelan-McPosium at this past summer’s International PMS Family Conference; was instrumental in launching our unique International Registry; negotiated our participation in PCORI, the Patient-Centered Outcomes Research Institute; launched inaugural PMS-focused sites around the country to develop medical practice parameters and chart natural history as part of the Rare Disease Clinical Research Network; and lobbied influential decision-makers in Washington and academia to raise the profile and awareness of PMS.
While she's ending her tenure as chair of the Research Support Committee, Geraldine will continue to be involved with the Foundation in different ways and will remain as parent representative of the Developmental Synaptopathies Consortium.
As the PMS Foundation transitions to new scientific leadership, the Board of Directors will make sure our portfolio of research programs will continue to realize benefits for our families. Our collaborative partners can be assured that we will continue to lead efforts to study SHANK3 and related genes as well as their impact on those diagnosed with PMS.
Transitions will position PMS
Foundation for the future
The Phelan-McDermid Syndrome Foundation today announces some important changes that reaffirm our commitment to support all of our families worldwide.
On the heels of our impactful International Conference, groundbreaking Phelan-McPosium and highly successful Giving Challenge, the Foundation has formally launched a search for an Executive Director. We have hired Robert M. Miller (www.robmillerconsulting.com) to assist with an evaluation of the Foundation’s needs and identify the best candidates for the position that will guide the Foundation into an exciting future as influential members of the rare disease community.
The Executive Director will work in close collaboration with the Foundation’s Board of Directors to continue to grow research, family support and awareness programs that will benefit everyone diagnosed with PMS.
Our efforts at accelerating research have been lauded as key initiatives in expanding the number and breadth of funded research studies on PMS. Leading that effort was Geraldine Bliss, whose passion for making a difference in the lives of those with PMS has raised research activity to new levels. As our research efforts and collaborations grow around the world, we recognize the need to hire a full-time Scientific Director, a goal for which Geraldine has advocated and paved the way. She has announced her intention to step down as chair of the Research Support Committee, effective Dec. 9, but she will stay active with the Foundation in other capacities.
“We cannot thank Geraldine enough for all of her hard work and the countless hours as a volunteer that she spent advocating for our families,” said
, Acting Executive Director and President of the PMSF Board of Directors. “The connections she made in the research community will pay off for the Foundation for years to come.”
The researchers Geraldine worked with lauded her dedication. Matt Mosconi, director of clinical and translational research at the University of Kanas said he was “grateful” and “inspired” by all of her efforts as chair of the PMS Research Support Committee. Added Joe Buxbaum, director of the Seaver Autism Center at the Icahn School of Medicine at Mount Sinai: “You have done a terrific job and an unparalleled service to the PMS community.”
The Foundation’s Board of Directors, along with its future Executive Director, will make sure the great work Geraldine has done will continue and we are developing a plan with her guidance to make sure there are no interruptions in programming.
Since its founding 14 years ago, the Foundation has grown immensely in the number of families it serves and the worldwide connections it has made to raise awareness of PMS. We are eager to continue that growth and feel this is a critical time to move your Foundation forward. Under the guidance of Program Director
, we have completed a detailed strategic plan that embodies our vision, solidifies our mission and sets aggressive goals in all key areas. It’s a living document that will grow along with your Foundation.
Its implementation, with the Board’s approval, will aggressively move the PMS Foundation to the next level, with a focus on family support, advocacy, a higher-profile Web presence, worldwide engagement and expanded research initiatives. Once finalized, we’ll share it with our families and community.
“We feel these moves will help the Foundation to achieve new heights, ones we could not begin to imagine when 23 families met for the first time in Greenville, South Carolina in 1998,” said
, Vice President of the Board of Directors. “Today, we firmly believe the Foundation is in a strong, unique position to make even greater impacts on the everyday lives of our families.”
We look for your continued loyal support of your Foundation in this exciting time of growth. Our volunteer Board deeply appreciates the dedication families have shown. We welcome all new members and look forward to engaging a new generation of advocates to carry on the deep tradition we have built to serve all those diagnosed with Phelan-McDermid Syndrome.
THANK YOU! THANK YOU! THANK YOU!
Everyone was so awesome donating to this year's Giving Challenge.
Your generosity and enthusiasm means so much to all or our families
in so many ways: Advocacy, Support and Research.
Without you, it wouldn't be possible. We unofficially raised
more than $95,000! Can you believe it? We are so grateful.
WATCH: Our Giving Challenge video!
We're so proud of unveil our awareness video
and thank everyone involved with its production,
as well as our donors who made this possible.
‘Be the One’ who makes this year’s
Giving Challenge a success
By Jen Randolph
Chair, Fund-raising Committee
Be the one to make a difference! Be the one that inspires others! Be the one to support those diagnosed with PMS! Be the one that helps PMSF accomplish its mission!
“Be the One” is the theme of this year’s Giving Challenge https://givingpartnerchallenge.org , from noon Sept. 20 and noon Sept. 21. The Community Foundation of Sarasota County, Florida, is sponsoring the event, in conjunction with the Patterson Foundation, Manatee Community Foundation, John S. and James L. Knight Foundation, William G. and Marie Selby Foundation and the Herald-Tribune Media Group.
This will be the fourth year of participation by the Phelan-McDermid Syndrome Foundation, whose home office is in Venice, Florida, in Sarasota County.
For those who are not familiar with the 24-hour Giving Challenge, it is an on-line giving opportunity. Donations made during the Giving Challenge are eligible for matching grants and will help us earn other incentive grants. By sharing information about the fund-raising event to your networks and supporting us with a donation during the challenge, you could “Be the One”!
Thanks to your support, the kindness of your networks and the generosity of the Patterson Foundation we raised just shy of $118,000 in 24 hours last year.
This year, the Patterson Foundation is offering incentives for donations from new donors – people who did not donate to PMSF last year – and returning. This means the earning potential for PMSF is exponential!
The Patterson Foundation will provide support in two ways:
-- A 2:1 match for each new online donor’s contributions – up to $100 per donor, per organization.
-- A 1:1 match for returning donor’s contributions – up to $100 per donor, per organization.
So how can you help?
-- Like our Facebook page, “2016 PMSF 24 Hour Giving Challenge,” and invite your friends to do the same. This is where you will find details and information leading up to the challenge and the link to donate.
-- Consider making a donation of $25 (or more). Whether you’re a new or returning donor, your contribution will grow, thanks to the generosity of the Patterson Foundation.
-- Share the donation link (it will be announced closer to the launch of the campaign) on your Facebook page and rally the support of your network.
Please feel free to contact any of us with questions. We would be happy to answer any questions for you.
As always, your support is so greatly appreciated! Be the One to make this a success.
CLICK HERE FOR LIVESTREAM SESSION ARCHIVES
THANK YOU to everyone who made this year's conference a wonderful experience
Another outstanding conference
draws 150 families, researchers
By Vicki Kurkimilis and Veronica Frunzi
Conference Planning Committee
Contributor: Tony Samuel
About 150 families attended last month’s International Family Conference and Phelan-McPosium. Families came from 10 countries: Australia, Brazil, Canada, Colombia, France, Norway, Portugal, Spain, the United Kingdom and the United States.
Approximately 95 individuals diagnosed with Phelan-McDermid Syndrome were onsite, along with many siblings, parents, caregivers and extended family members. All totaled we had close to 550 people registered for the conference at the Caribe Royale in Orlando, Florida.
Throughout the conference, experts in the field of rare diseases shared information regarding the latest research and strategies being used to understand Phelan-McDermid Syndrome. The conference is a great opportunity to network with other families and to share best practices in the roundtable discussions.
“It was great to connect with other families and to see the scientists who are trying to make a difference for kids like our daughter Nadia,” Tania Samuel told the StarNews in North Carolina. She and husband Tony have a daughter, Nadia, with PMS. Nadia is the star of two children’s’ books Tony has written.
It takes a lot of planning and a lot of volunteers to put on an event of this size. We are very grateful for all those that worked together to make it a success.
Many of us have spent countless hours planning for the 18 months. Others volunteered onsite to help with registration, art therapy, the store and more. Many family members and parents led sessions through the family conference, preparing materials and presentations. It really is a group effort and we thank everyone who played a part in making it all happen.
Tell us about your experience
More than 80 participants have filled out our post-conference evaluation form. If you haven’t done it yet, please do so soon. Your thoughts and comments will help us to plan an even better conference experience for 2018.
You can watch sessions online
Our volunteer AV team is getting many of the conference sessions online through our YouTube channel. You can also watch sessions from 2014’s conference. We’ll also post to our Web site and Facebook pages edited slide presentations from the researchers who presented information at the conference. Look for those soon.
Want to go shopping?
We are working to get some of the new items from the conference store online in our PMSF store. You can buy T-shirts, notebooks and other items by shopping our online store or calling the office at (941) 485-8000.