.............................(click on the image above for more info) ................................                         ................(click on the image above for more info)

.............................................."An International Alliance of Support and Science"

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 This e-mail address is being protected from spambots. You need JavaScript enabled to view it , 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 This e-mail address is being protected from spambots. You need JavaScript enabled to view it , 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 This e-mail address is being protected from spambots. You need JavaScript enabled to view it , 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.




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.



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.




5 things you need to know about
this year's Giving Challenge

(No. 4 will blow your mind!)

Be The One to make a difference!
Be The One who inspires others!
Be The One to support those diagnosed with PMS!
Be The One who helps PMSF accomplish its mission!

This is the fourth year the Phelan-McDermid Syndrome Foundation, based in Sarasota County, Florida, is participating in the Giving Challenge. Your generosity has raised nearly $400,000 for your Foundation ($118,000 last year alone)!
Thank you!
This year's 24-hour Giving Challenge is an online giving opportunity from noon on Sept. 20 to noon on Sept. 21.
1. Who's behind the Giving Challenge?

The Community Foundation of Sarasota County is sponsoring the annual 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.
2. How can you maximize your participation?

By sharing information about the Giving Challenge to your networks of family, friends and acquaintances and supporting us with a donation.
3. There's a way your donation can make a bigger impact.

Contributions are eligible for matching grants and will help us earn other incentive grants. This means the earning potential for PMSF is exponential!

4. What are the incentives?

The Patterson Foundation is offering incentives to all donors:
-- A 2:1 match for each new online donor's contribution (those who did not donate last year) up to $100 per donor, per organization.
-- A 1:1 match for contributions from returning donors (those who donated last year) up to $100 per donor, per organization.
5. How you can help.

-- Like our Facebook page, "2016 PMSF 24 Hour Giving Challenge," and invite your friends, family and acquaintances to do the same so you'll get details and tips leaving up to the event and the link to use during the 24-hur period.

Like us on Facebook
-- Consider donating at least $25. 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 networks.

Your support is greatly appreciated.
Be The One to make this campaign a success!




Florida dad inspires legislation

that benefits PMS families

By Ashley Shattles

Chair, Legislative / Advocacy Committee

Florida Gov. Rick Scott recently signed into law a bill whose inspiration was an online petition launched by the father of a child diagnosed with Phelan-McDermid Syndrome.

The bill requires the state to provide non-waitlisted Medicaid waiver services to individuals with Phelan-McDermid Syndrome, also known as 22q13 Deletion Syndrome. More than 100,000 Floridians signed the Change.org petition started by Greg Creese, father to Avery, which highlighted the need for developmental disability services in Florida, regardless of income.

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. Creese believes that advocating for his child and sharing his personal story led to a successful outcome for all those affected by PMS.

“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."

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.

The Phelan-McDermid Syndrome Foundation’s legislative advocacy gives a voice to children and adults with PMS. Whether at the state level or in Washington, D.C., PMSF supports initiatives that will improve the lives of those affected by PMS.

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.

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Click to join 22q13


Mark your calendar


Make a note of these significant upcoming events.


August Shopping online for a special event or birthday? Shop iGive.com or Amazon Smiles and choose Phelan-McDermid Syndrome Foundation as your charity of choice. Find out more here


September World Alzheimer's Month


Sept. 15 Take a few minutes to look over the valuable family support and medical information under the Resources link in the menu list on the left side of this page


Sept. 20-21 Giving Challenge, sponsored by the Community Foundation of Sarasota County, Fla. Noon to noon. Co-sponsor is the Patterson Foundation. Like our Facebook page to get all the details!


Sept. 21 World Alzheimer's Day


Sept. 22-23 Global Genes Rare Patient Advocacy Summit, Huntington Beach, California. Details here.


Sept. 28-Oct. 1 National Society of Genetic Counselors, Seattle, Washington


October Learning Disabilities Awareness Month; Disabilities Awareness Month


Oct. 10 Did you update your preferences in the PMS International RegistryContact Jackie Malasky.


Oct. 15 Rare Disease Day New York. PMS families will be staffing an informational table.

Oct. 18-22 The American Society of Human Genetics, Vancouver, Canada


Oct. 22 North East Family Gathering. 12:30-3:30 p.m. The Ark@Crawcrook, Main Road (B6317), Ryton, Tyne & Wear. Contact Gemma Smith Jibberjabba2@gmail.co.uk or 07971468599.

Nov. 7 Annie’s 7th Annual Golf Classic at Trophy Club Country Club in the Dallas-Fort Worth, Texas, area. For event information, donations or sponsorships, contact Veronica Frunzi.


Nov. 15-17 World Orphan Drug Congress Europe, Sheraton Brussel Hotel, Brussels, Belgium


Dec. 1 Did you know? Signing up to participate in the International Registry is not the same as signing up to be a member of the PMS Foundation. For the registry, go here. For Foundation membership, go hereBoth are FREE!

Dec. 1-2 New England Regional Genetics Group, Woburn, Massachusetts

Dec. 25 Christmas


Feb. 4 Jackson's Trivia Night. Details to come.

Feb. 28 Rare Disease Day