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

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

24 Hour Giving Challenge was a great success

For the second year in a row PMSF finished at the top of the Giving Challenge! Did you know that no nonprofit has ever done that twice in a row?

It was very exciting and nerve-wracking at the last half hour, but PMSF prevailed, due to the generous support of family and friends of the Foundation.  Did you know that 14% of our donors gave within the first 19 minutes of the event and 31 donors gave almost $5,000 in the last 10 minutes of the event?  This has positioned us well for matching dollars and put us over the top to take first place!

Our final numbers so far are as follows:  Leaderboard donations $73,960.00, PayPal Donations, 1,335.00, Individual Matching Funds, 2,250.00.

Incentive Grants we have received: $2,000.00 for most donations from foreign countries, $4,000.00 for most profile clicks, $15,000.00 for 2nd place for most unique donors.  Total Received to Date:  $98,545.00!  We  are still expecting 1:1 Matching dollars to come in as well as other possible incentive grants.  We will keep you posted as our numbers are still climbing!

We want to thank all of you who sent the beautiful pictures of your children, which were included in our Giving Challenge Facebook thumbnail graphic campaign.  Did you know that over 90 families participated?  Some of these graphics were included in the YouTube video made specifically for the 24 Hour Giving Challenge.  If you haven't watched it yet, please click the link below as it is a touching video and shows how kids with PMS challenge rare disease every day. https://www.youtube.com/watch?v=TNmc2K0d2i0 Did you know this video was viewed by 2,920 people and shared from the Giving Partner’s Facebook page 64 times?  Talk about raising awareness!

We will be reporting on the final numbers and incentive grants awarded as they are confirmed by the Community Foundation of Sarasota County. This could take several weeks as nearly 400 nonprofits in our area participated in this Challenge.  Did I mention that no nonprofit has ever won it twice in a row?

We thank you for your phone calls (even the one at 5 a.m. EST), emails and words of support. The staff and I are so blessed to be a part of this wonderful organization.  In the weeks leading up to the 24 Hour Giving Challenge and during the 24 hours itself PMS families and friends were engaged on the PMSF Facebook pages and Twitter in real time.  We encourage all of our members to join Facebook and Twitter as they are great communication tools between the Office Staff, Board of Directors and PMSF membership.

Once again, the Board of Directors and I want to thank all who participated and for engaging your friends and families in this great campaign to raise over $98,545 in 24 hours for PMSF!  You all are truly remarkable!


Barbara Cruz

PMSF Executive Director

Phelan Lucky in 50 States and Internationally

By Jen Randolph

Our family is feelin' really lucky.

We set out to sell a few T-shirts for a local St. Patrick's Day event and it quickly caused a national stir in the special needs community.

The shirts were intended to raise awareness for the Phelan-McDermid Syndrome Foundation and also raise some money. We thought it would be a cute idea if we all wore matching T-shirts Saturday, March 15, for the St. Patrick's Day Loop in Wilmington, Del., and also have a cute shirt for the kids to wear to school on St. Patrick's Day, March 17.

After brainstorming, we came up with the idea of the phrase PHELAN LUCKY, which seemed quite appropriate given our gratitude toward the Foundation for all that they do for our family, the upcoming holiday and of course, Dr. Katy Phelan's love of the Boston Celtics.
Dr. Katy Phelan and her Phelan Lucky T-shirt, worn in Louisiana.

At first the idea was simple, sell a couple of shirts to our friends and family and make a couple hundred dollars while we were at it. However, the shirts, designed by our good friend Andy Cruz at House Industries, proved to be a hot commodity. Locally, our friends and family thought they were great so I put it on Facebook. It kind of exploded after that.

At the end of our three-week campaign on booster.com we sold 488 shirts, got at least one shirt in each of the 50 states (four made it to Shanghai, China), and raised $10,950.00 for the foundation. As time was running out on the campaign we still did not have anyone buying the shirts in six states. So, my father's friend kicked in to help. He cold-called families in those states and found people to buy the shirts so that we would meet our goal of making sure at least one person had a PHELAN LUCKY shirt in every state! Thank you so much!

Today, I am still receiving requests to order the shirts. Unfortunately, the campaign is over, but due to the high demand, I feel confident that Jack's PHELAN LUCKY campaign will become an annual fundraiser.

Thank you to all of the families who supported us by buying shirts and sharing with your circle of friends. For those of you who missed out, I promise to remind you next year.
The Randolphs are certainly PHELAN LUCKY to be associated with such an incredible group!

Nick Assendelft contributed to this story.



Phelan-McDermid Syndrome Foundation team approved for funding award to be part of National Clinical Research Network

A team led by the Phelan-McDermid Syndrome Foundation has been approved for a funding award from the Patient-Centered Outcomes Research Institute (PCORI) to develop and expand a health data network that will be part of PCORnet: the National Patient-Centered National Clinical Research Network.

The Phelan-McDermid Syndrome Data Network is one of 29 that were approved Dec. 17 for a total of $93.5 million. Together, they will form a new national resource that aims to boost the efficiency of health research.

The PMS Data Network, to be developed in conjunction with Paul Avillach, MD, PhD at the Center for Biomedical Informatics at Harvard Medical School, looks to supplement families’ self-reported information in the Registry with electronic health records to increase the depth of knowledge about PMS.

"The knowledge from clinical notes will be extracted by the Apache cTAKES framework" says Guergana Savova, PhD, PI of the Clinical Natural language processing team at Boston Children Hospital. Multiple data feeds will then be established to extract and link data from well-characterized patient and the backbone informatics architecture provided by the open source, i2b2 based, tranSMART platform. This will help researchers to mine much more meaningful information for future studies of those diagnosed with PMS.




Have you updated your membership information?

It's important you be part of our Membership Update Campaign

Whether you have been a long time member or just joined the Foundation -- even if your information has not changed -- we need to get you into our new database.

Why is this important? Because we want to keep you informed of all the great things that are going on with your Foundation. Things such as family gatherings, research initiatives and some great fund-raising stories.

Your participation in the Membership Update Campaign means you are guaranteed to continue receiving important information about the Phelan-McDermid Syndrome Foundation.

Our monthly newsletter is full of news and updates from around the world. And there are times we want to let our membership know about exciting news that can't wait for the newsletter. As we look ahead, it will be critical to know where our families for some exciting upcoming research and medical initiatives.

You don't want to miss out on either of these opportunities.

So, click on the Membership link at the upper left-hand corner of this page, choose your language under Update My Contact Information! and update us so we can update you. And, as always, let us know if you have any questions.

Thank you,
Barbara Cruz - PMSF Executive Director
<< Start < Prev 1 2 3 4 5 Next > End >>

Page 3 of 5
Copyright © 2017 Phelan-McDermid Syndrome Foundation. All Rights Reserved.


Click to join 22q13


Find Our Page

On The Mighty


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