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

Click Below for the Phelan-McDermid Syndrome Foundation
2011-2012 Year In Review


Thrive Frozen Nutrition and Rutland Regional Medical Center

agree to sponsor 2014 PMSF International Family Conference.

Thrive is an exceptional product that is packed with nutrients and is the equivalent of an Ensure but with the added benefits of active probiotic cultures and has the superior taste of premium ice cream, and who doesn't love ice cream!

Chris and Shirley from Thrive visited the PMSF office so we could taste the product; We are PLEASED TO SAY THIS PRODUCT IS PMSF STAFF APPROVED!  All flavors; chocolate, vanilla and strawberry are amazingly delicious.

The physicians and staff at R.R.M.C. , Vermont's second largest hospital, are committed to providing patients, families and the community with exceptional medical care in a warm and caring environment. Their vision is to "To be the Best Community Healthcare System in New England".

Our pledge is to provide Thrive and R.R.M.C. with an exceptional sponsorship experience and we look forward to long and mutually beneficial relationships.

Phelan McDermid Syndrome Foundation
2014 International Family Conference dates

We will meet again at the Caribe Royale, July 23-26, in Orlando, Fla.

PMSF strives to bring you the most informative and affordable conferences we can provide. We are pleased to report that our conference fees are on average 33% less than other rare disease organizations.  

We have begun to plan and so should you.  To get you started in the planning process we have created a Conference Information and Resource Packet which includes things you need to know about the conference such as registration fees and child care fees. Also included are some potential financial resources you can look into for help.  You will also find a budget worksheet that can help you plan for the expenses you may incur for your trip.  Contact jack@pmsf or call (941)-485-8000 to obtain your Conference Information and Resource Packet.

We are less than a year away so start planning today to attend this exciting and informational conference that will bring many of our PMSF families together to share how we are Embracing Today and Empowering Tomorrow!

An Important Note: In order to continue to receive updated conference news, please remember to update your contact information into our new database by visiting the PMSF website at www.pmsf.org then clicking on MEMBERSHIP and update your  contact information.


PMSF will be returning to the Caribe Royale
By Jack Sweeney

PMSF is pleased to be returning to the Caribe Royale Hotel and Convention Center on July 23rd through July 27, 2014 for our nineth biennial Family Conference.

Located just minutes from world famous theme parks and attractions The Caribe Royale boasts 53 tropical acres, 1,218 spacious one bedroom suites, 120 two bedroom lakeside villas and an expansive state of the art meeting and conference facility. At the heart of the Caribe Royale is their 250,000 gallon free form pool complete with its winding 75 foot waterslide additional amenities include tennis, spa services and a fitness center to name a few.

With the popularity of our biennial Family Conference growing our 2014 conference promoises to be the biggest and best conference to date. Activities are planned for every member of the family in addition to the support of other families living with PMS. Please save the date and begin making plans to join us in Orlando.

Please feel free to call our PMSF office at (941)-485-8000 or e-mail This e-mail address is being protected from spambots. You need JavaScript enabled to view it with any questions.

places first in 36 Hour Giving Challenge, raising $145,000
By Jack Sweeney

Families and friends of the Phelan-McDermid Syndrome Foundation raised about $145,000 during the 36 Hour Giving Challenge in March.

That was good enough to place the Foundation in first place among 285 non-profits participating in the Giving Partner program through the Community Foundation of Sarasota County, Fla. Groups as diverse as Habitat for Humanity, The Sarasota Ballet and the Cat Depot competed for more than $645,000 in matching funds and incentive grants.

Initial planning began just under one year ago with the creation of the Foundation's "Giving Partner Profile," a mandatory step for participation in the event. Around the first of the year, an "All in" approach was approved and a five pronged strategy was developed to support our "Stay Awake and Donate" campaign.

Foundation members around the world shared our campaign with their friends and networks of contacts through Facebook, Twitter and phone calls. More than $90,000 was raised from donations from 40 states and 15 countries including Australia, Denmark and Japan. Follow the links below for maps of states and countries represented among our donors. The Foundation also won incentive grants of $26,000 and matching funds totaling nearly $30,000.

"Amazed, inspired, grateful. That's how your generosity has made us feel and simply saying "thank you" just doesn't seem enough to express our appreciation," said Executive Director Barbara Cruz and Board of Directors President Susan Lomas.

"Thank you for driving all over Quebec to access as many wireless networks you could find to drive up our number of profile clicks!

"Thank you for clicking on our profile from the 48 computers in your computer lab!

"Thank you for continuing to eat Lucky Charms at 1 a.m. because you felt this was the reason for an increase in donations!

"Thank you for bringing the "Rally Hat" and wearing it when we needed a wake up!

"Thank you for trying to stay awake with us for 36 hours but eventually succumbing to sleep and alas, waking up with the perfect keyboard mark on your forehead!

"Thank you for completely exhausting your keyboard while posting on Facebook for 36 hours straight!

"We could go on and on with thank yous but our biggest Thank You is for being with us through the 36-hour event, for spreading the word, for refreshing again and again and for donating! Your generosity is inspiring!"




Phelan-McDermid Syndrome Foundation awards third research fellowship grant

The Phelan-McDermid Syndrome Foundation has chosen Dr. Sally Kim of Stanford University to receive the P-MS Foundation’s    third research grant under its fellowship program to study interactions between cell neurons using a unique “stealth” probe technique.

Dr. Kim has been awarded $80,000 over two years to test the cutting-edge procedure. Her work will gauge how the neurons react to stimuli that could ultimately benefit those with Phelan-McDermid Syndrome.

“This is the third fellowship we have awarded,” said Susan Lomas, President of the Phelan-McDermid Syndrome Foundation Board of Directors. “We are very excited about the work Dr. Sally Kim will be doing and we think the results will help improve the quality of life for those with Phelan-McDermid Syndrome.”

click here to read full article

DR. Sally Kim


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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