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

PMSF Board of Directors expands commitment

to family support at its annual meeting

By Nick Assendelft

Vice President, Board of Directors

The Board of Directors of the Phelan-McDermid Syndrome Foundation at its annual meeting Jan. 9-10 developed plans to increase efforts to support the families of those affected by PMS.

Directors identified areas where the Foundation can expand the help it offers to families, both newly diagnosed and those who have been living with the diagnosis for years.

Some of the changes will be recognizable immediately, such as changing the name of the Membership Committee to Family Support Committee. The impact of other decisions will take longer to realize, such as our new efforts at lobbying for legislation and funding in Washington.

Among the family-oriented initiatives:

--  Using regional representatives to compile local resource information and expanding their contacts with families in their areas.

-- Expanding the information collected by the international patient registry to build a better picture of PMS for researchers.

-- Continuing to develop clinical care guidelines.

-- Approving limited funding for regional gatherings.

-- Revamping www.pmsf.org to better serve our many stakeholders.

-- Expanding social networking to stay more closely in touch with families.

-- Reaching out internationally through our Global Partners Program, including attending in May a second meeting in London.

-- Launching legislative advocacy on the local and federal levels such as engaging families in awareness of Rare Disease Day in February.

The Board, meeting at the Foundation office in Venice, Fla., also reviewed budget priorities for 2015 and will approve the spending plan soon after making some changes. Looking back to 2014, the Directors would like to thank everyone who donated their time and money to allow the Foundation to fulfill its goals.

Among those larger donors were Pepsi employees, Annie's Golf Classic, Logan's Heroes, the Giving Challenge, the Year End appeal, our "$22 for 22q" campaign and contributions from 1,243 individuals.

"We are happy with the direction the Foundation is taking in this new year," said Susan Lomas, Board President. "We have so many exciting things planned that will benefit our families in so many ways. We thank everyone who has helped us in the past and urge your continued support in the future."

As always, we value your input. If you have questions or suggestions, please contact Board President Susan Lomas at  This e-mail address is being protected from spambots. You need JavaScript enabled to view it or Executive Director Barbara Cruz at  This e-mail address is being protected from spambots. You need JavaScript enabled to view it .







The Phelan-McDermid Syndrome Foundation is delighted to announce PMS is one of the diseases included in the new “Developmental Synaptopathies Consortium” through the Rare Disease Clinical Research Network (RDCRN).  This consortium includes PMS and two related disorders – Tuberous Sclerosis Complex and autism-associated PTEN mutations.

What does it mean for us?  We will have Seaver Autism Center (NYC), NIH (Bethesda, Md.), Rush Memorial (Chicago) and Boston Children’s working together to collect clinical data from our children.  Each site will follow a common protocol and will share participant data with each other – both of which are especially important in accelerating rare disease research.

Enrollment is expected to begin in the spring of 2015. PMSF will keep you informed about RDCRN-related activities and about when recruitment for the studies will begin.

Read more here:

NIH: http://www.nih.gov/news/health/oct2014/ncats-08.htm

Boston Children’s: http://www.prnewswire.com/news-releases/boston-childrens-hospital-to-lead-nih-funded-rare-diseases-consortium-studying-autism-and-intellectual-disability-278525561.html


Foundation unveils new logo that represents

our worldwide communities of influence





Thank you for attending our international 2014 conference

By Sue Lomas

Dear Families and Friends,

It was so wonderful to see so many families from so many places at our International Conference in Orlando, Fla. 

Thank you all for making the trip and for the incredible outpouring of love and friendship.I also want to thank the families who could not make it to the conference but were so enthusiastic about watching and commenting on the live streaming of sessions.

Each conference, we see how strong, resilient and caring our group is. Even with all our growth, we continue to believe and nurture our one voice, our one mission: to improve the quality of life for all of our children.
And each conference, our resolve is reinforced. 

Thank you all for being part of it, part of this amazing family.

Board President, Phelan-McDermid Syndrome Foundation



Our sponsors were key to the conference's success

By Barbara Cruz

Dear PMSF Family,

I would like to offer a sincere thank you to this years conference sponsors and the team of volunteers who gave so freely of their time to make our 2014 conference a success.  Without the generosity and hard work of these individuals our conference would not have been possible.

Barbara Cruz,
Executive Director
Phelan-McDermid Syndrome Foundation



Largest number of families ever attends PMS conference

By Nick Assendelft
Vice President, Board of Directors

Outstanding. Wonderful. Enriching.

That's how many family members described their experiences at the 2014 Phelan-McDermid Syndrome Foundation International Conference in Orlando, Fla., the largest gathering ever of families affected by Phelan-McDermid Syndrome.

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Click to join 22q13




Mission Accomplished 2013 – Challenge Accepted 2014!

On behalf of the PMSF Board of Directors we want to thank
EVERYONE that contributed in 2013 to help us exceed our
projected income goal.  As a matter of fact, we
“blew the top off” the thermometer. The goal was $277,000.
We raised $472,115! A significant portion of the funds
raised came from the Giving Challenge last year. We had no
idea  what to expect given it was our first year to participate
and the $145,000 from the Challenge (which consisted of
$90,000 in  contributions and $55,000 in matching gifts,
grants and awards)  was a huge surprise. We raised
THE MOST out of 285 non-profits.
A total of 678 contributions were made to PMSF from 40
different states and 15 countries.

This year’s Giving Challenge goal to surpass the $90,000
contributed  directly from PMSF families and their generous
networks is a lofty  goal. However, we believe it is entirely
possible. There’s no doubt  we have a lot of families and
friends of PMSF that are passionate about helping. And,
the Giving Challenge gives contributors a chance to have
their donation multiplied by a matching gift, grant or award.
It is paramount that EVERYONE contributes what they can
in 2014 so  we can advance our understanding of
Phelan-McDermid Syndrome  and potentially unlock some
of the mysteries of Autism.
Learn more about the 2014 Giving Challenge by clicking

If you are here learning more about Phelan-McDermid
Syndrome and  considering a donation I encourage you
to take a peek at the following link.  It’s an on-line brochure
with details about our research  efforts.
Click Here:
We’re embracing today and empowering tomorrow!

Please gear up for this year’s Giving Challenge May 6th and 7th.
Do what you can to help that “special someone” you know
affected by Phelan-McDermid Syndrome.

Kurt Koester – Kylie’s Dad

Urbandale, Iowa
Director/Fundraising Committee Chair

Phelan-McDermid Syndrome Foundation