It is the vision of the PMS Foundation to advocate for families worldwide
affected by PMS and accelerate the search for a cure.
Here's how you can be a part
of Rare Disease Week
By Ashley Shattles
Chair, Legislative / Advocacy Committee
Rare Disease Week brings the rare disease community -- including advocates, patients, patient organizations, health professionals and decision makers -- together to learn about federal legislative issues, meet other rare disease advocates and to share their stories with legislators.
The week from Feb. 27 through March 2 kicks off with Rare Disease Day at the National Institutes of Health followed by a day of Legislative training with Rare Disease Legislative advocates and ends with a Capitol Hill Lobby Day.
This year, each region representing PMS families will be involved in their own Rare Disease Day event led by your regional representatives. There are many ways that families and regions can participate. In the past, families have organized an awareness display at a local school or hospital; hosted an event at a local community center or library; participated in a lobby day at their State Capitol; created artwork to commemorate the day and shared on Social Media. Reach out to your regional representative to help plan an event.
Here are other ways that you can get involved:
- Create a Facebook profile picture for Rare Disease Day on GlobalGenes.org.
- Write a letter to the editor and send it to your local newspaper about what Phelan-McDermid Syndrome and Rare Disease Day mean to you.
- Create a short video clip of your loved one with PMS for Rare Disease Day and share on social media.
- Participate in Rare Disease Day on Social Media using hashtags #WRDD2017, #CareAboutRare, #PhelanMcDermidSyndrome, #PMSFAdvocacy.
- Share your story! We are asking families to write to their representatives to tell them what Phelan-McDermid Syndrome means to you and your family. Your story will be hand-delivered to your Member of Congress.
- We have a goal of having 22 PMSF families/patient advocates who will meet with their State Representative or attend a Rare Disease Event on Capitol Hill in Washington, D.C.
– Share your advocacy on Social Media and with PMSF.
- PMSF awarded two travel awards for PMS family advocates to attend Rare Disease Week on Capitol Hill.
More than 7,000 rare diseases -- defined as those affecting fewer than one in 200,000 people and including Phelan-McDermid Syndrome -- have been identified to date, affecting the daily lives of millions of families.
PMSF joins with other Rare Disease groups to bring awareness to the collective and similar challenges that Rare Diseases pose. According to Global Genes, 80 percent of rare diseases are genetic and about 50 percent of those affected by rare diseases are children but only 5 percent of rare diseases have a FDA approved drug treatment available.
We encourage everyone to get involved and participate in Rare Disease Day. For an introduction to 2017 Rare Disease Week, visit Rare Disease Legislative Associates and sign-up for their Rare Disease Day informational webinars.
If you participate in an event on Rare Disease Day, remember to share with PMSF and social media using hashtags #WRDD2017, #CareAboutRare, #PhelanMcDermidSyndrome, #PMSFAdvocacy.
Florida dad shows activism key to aiding families
By Ashley Shattles
Chair, Legislative / Advocacy Committee
Greg Creese knows the power of advocacy.
He started a Change.org petition that called for Florida to provice for developmental disability services to families affected by Phelan-McDermid Syndrome regardless of income. His petition garnered more than 100,000 signatures. Florida's governor last year signed into law a bill inspired by the petition drive.
Creese said he pushed for the change to benefit everyone, not just his daughter Avery, who is diagnosed with Phelan-McDermid Syndrome (shown with her dad in photo above).
“Sharing about Avery put a human face to our struggles and it was the politicians who chose to specifically name PMS as a syndrome which deserves recognition and assistance from the state,” he said. “My fight was for everyone but I shared enough about PMS that it became clear people needed to help."
The petition gave Creese, who launched his campaign last year, the chance to meet with media and politicians to raise awareness of the need for services.
Susan Lomas, president of the Phelan-McDermid Syndrome Foundation and mother to Sam, said Creese’s campaign shows the power of parent advocacy. “So many single acts snowball into collective action,” she said. “Working together is powerful.”
Once legislators suggested adding PMS to the bill, Lomas worked with their staffs as well as the Agency for Persons with Disabilities (APD), which manages Florida’s Medicaid programs, to finalize the bill’s PMS and 22q13 Deletion Syndrome language.
Florida’s general Medicaid bill requires the APD to provide Medicaid waiver services to those with PMS or 22q13 Deletion Syndrome without being placed on a waiting list. The waiver allows a person with developmental disabilities to live at home rather than in an institution. It also provides for personal care services, respite, day activities, consumable medical supplies (e.g., diapers), durable medical equipment (e.g., a wheelchair), therapies, environmental modifications, among other provisions.
The Phelan-McDermid Syndrome Foundation’s legislative advocacy gives a voice to children and adults with PMS. Whether at the state or federal levels, PMSF supports initiatives that will improve the lives of those affected by PMS.
Phelan Lucky shirt sales reach record!
By Jennifer Randolph
Chair, Fundraising Committee
Year four and the Phelan Lucky T-shirt campaign certainly did not disappoint.
With record sales, (5,727 shirts sold) and nearly $80,000 raised, the Phelan-McDermid Syndrome Foundation is not only #PhelanLucky but also extremely appreciative for all its supporters!
The campaign which launched on Jan. 16 was honored to have the likes of actors Henry Winkler, Larry David and back for his second year, Jeff Garlin, donning their 2017 #Phelan Lucky shirts. The 22-day campaign was also honored to have sports figures Elena Delle Donne (WNBA MVP), Stephen Gostkowski (kicker for the Super Bowl champion New England Patriots), Brad Knighton (New England Revolution), Erik Compton (PGA Golf Pro), Ani Gulugian (LPGA golf pro), former NY Giants head coach Tom Coughlin and the Houston Texans head coach Bill O’Brien sport our shirt!
The support didn’t stop there: Delaware Sen. Chris Coons, boxer Dave Tiberi, Villanova coach Jay Wright, comedian Jack Gallagher and Real Housewives of New Jersey, Dolores Catania, Jacqueline Laurita and Siggy Flicker, all got in on the action by sending in photos of themselves rocking their T-shirts to help raise awareness for PMSF.
And who can forget the amazing video message from Howie D from the Backstreet Boys!
It wasn’t just the A-listers who were raising awareness! Our PMSF families played an integral part in pushing this campaign out to their families and friends. There is no way that we could have succeeded selling shirts in each of the 50 United States and 12 countries including Greece, Spain, Sweden, Denmark, Cyprus, Australia, New Zealand, Canada and the United Kingdom without their help. We are eternally grateful for all that our parents do to help us help those who are diagnosed.
With the campaign behind us, now comes the fun part! Once you receive your shirt, make sure to take and post pictures of yourself wearing your shirt to help raise awareness. Better yet … post a video telling us why you’re #PhelanLucky (landscape mode is best)! Make sure to use the hashtags #PhelanLucky and #PMSF. Tag us on Facebook (@22q13) Twitter (@PhelanLucky2213) and Instagram (@phelanlucky22q13). We’d love to see posts from around the globe so make sure to pack your shirt when you travel!
Thanks for an incredible campaign!
Have a happy St. Patrick’s Day and keep on #PhelanLucky. We sure are!
Stanford researcher finds high prevalence
of sleep issues in those with PMS
Ninety percent of individuals with Phelan-McDermid Syndrome have sleep disturbances, according to the results of a Stanford University study.
However, only 22 percent of them have had a formal sleep assessment, according to Jon Bernstein, associate professor of pediatrics (genetics) at The Lucile Salter Packard Children's Hospital. His findings were recently published in PubMed.gov, run by the U.S. National Library of Medicine at the National Institutes of Health.
Bernstein discussed his findings in July at the Phelan-McPosium, which was part of our International Conference in Orlando, Fla. (Watch his session here.)
Data was collected from 193 PMS caregivers who filled out two questionnaires: Children's Sleep Habits and Parents' Sleep Habits.
From his analysis of the answers, Bernstein concludes: "Routine screening for and evaluation of sleep disturbances in individuals with Phelan-McDermid Syndrome may have long-term positive impacts on the wellbeing of these individuals and their caregivers."
You can read the study abstract here.
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.
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.
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.