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

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

You can use iGive.com, Amazon Smile
together to double donations to PMSF

You’ve heard us urge shoppers for a number of years to use iGive.com when shopping online.

Through iGive you can shop at hundreds of the most popular stores’ online sites and a portion of your purchase price is donated back to the Phelan-McDermid Syndrome Foundation.

We recently teamed up with AmazonSmile.com, which offers a similar benefit for non-profits. Shop Amazon Smile and a percentage goes to PMSF.

Did you know you can use both services to multiply how much is donated to PMSF? You sure can. Just start at iGive.com/Amazon to boost your donations.

To find out more, click here. For a Webinar explaining how both work together, click here.

You can now book your rooms
for our 2016 family conference

By Vicki Camarillo

Co-chair, Conference Committee

It’s less than nine months until our International Family Conference so we’ll be rolling out plenty of news and information to help you plan your trip.

First and foremost here is the link to reserve your room at the Caribe Royal Hotel and Convention Center in Orlando, Fla.

Our PMSF room rate is $139 a night plus tax for a one-bedroom suite and $199 a night plus tax for a two-bedroom and two-bathroom villa.

The one-bedroom rooms can be reserved with one king bed or two double beds. They also have a sleeper sofa in the living room, which is a separate from the bedroom.

The villas feature a master bedroom with one king bed, a guest bedroom with two double beds and a sleeper sofa in the living room. They also come with a full kitchen and a washer and dryer.

Here’s a money-saving hint: Book through our reservations link to avoid the new resort fees of  $19.95 per night plus tax.

Rooms can be booked at our group rates for several days before and after the conference, so you can spend a few extra nights to enjoy the many Orlando area attractions.

Money-saving hint #2: If you want to qualify for some free perks during your stay and earn points, join the STASH Hotel Rewards Program. Sign up for this program before booking your room and then put your STASH number on your reservation to ensure you get your benefits.

Returning conference attendees will notice a beautiful new Caribe lobby. It was renovated after our 2014 International Family Conference.

While the agenda is taking shape, we do have some events penciled in. There will be a Family Fun Day on Wednesday, July 20, which will include complimentary family portrait sessions, art therapy and more. There also will be a special session for first-time conference attendees in the afternoon.

Conference sessions will run all day Thursday, July 21, Friday, July 22, and Saturday, July 23. Plan to be at the hotel on all three of those days so you don't miss any of the sessions. We will also have a social activity each night to allow families a chance to get together and get to know each other.

PMSF International Family, Research Conference

July 20-23, 2016, in Orlando, Fla.

Download our free PMSF conference phone app through the App Store or Google Play.


THANK YOU! Another Giving Challenge
success: Over $120,000 raised

We had a tremendously successful Giving Challenge and we couldn't have done it without your help. We want to thank everyone for Rising to the Challenge and applaud all that you did to make this year's campaign so fulfilling.

Over the 24-hour period of this year's Giving Challenge we raised more than $120,000! Donors gave over $74,000, and after adding to that figure matching funds from The Patterson Foundation, grants and other prizes from The Community Foundation of Sarasota County, Fla., our total amount raised nearly doubled. Our families and their supporters really turned out to show their commitment to the children and adults who are diagnosed with Phelan-McDermid Syndrome.

"Thank you, from the bottom of our hearts, for your love, support, and generosity," said Jennifer Fortunato Randolph, chair of the Phelan-McDermid Syndrome Foundation's Fund Raising Committee. "It was an amazing show of support and I can tell you on behalf of the Foundation and our families, we are truly touched and overwhelmed! It is because of family and friends like you that we are able to do what we do ... provide the best possible life for those with PMS!"

"This was an amazing effort by all of our families and their networks of friends," said Susan Lomas, president of the Board of Directors of the Phelan-McDermid Syndrome Foundation. "We so appreciate all the sacrifices people made to make it possible for us to support families, push research and raise awareness."

PMSF had 662 donors who gave an average of about $112.

PMSF would like to thank all the families who made such heart-warming, informative and fun videos, everyone who liked our Giving Challenge Facebook page (nearly 1,000), shared the Giving Challenge information with their networks and pushed people to donate. We will post many of the family videos on our YouTube channel, where you already can find Dr. Katy Phelan's and Dr. Curtis Rogers' videos and others.
Parent Rick Kuehl made a touching video with our children as the stars to thank the foundations that made the Giving Challenge possible and all of our donors.

While our total collected wasn't enough to threepeat as the top non-profit in the Giving Challenge, we're all still winners. Thank you!


Seizure registry available
for PMS families to participate

Twenty-one rare epilepsy organizations have joined forces with the Epilepsy Foundation, Research Triangle Institute, Columbia University and New York University to create the first Rare Epilepsy Network.

REN is a patient registry created to collect information about rare epilepsy patients to better understand these conditions, improve treatments and improve the lives and quality of care of patients living with them. Similar to the Phelan-McDermid Syndrome International Registry (PMSIR), the REN Registry is voluntary, anonymous and data is kept in a secure database.

Participation involves creating an account and completing 12 questionnaires, each only takes between two and 10 minutes at most. Periodically, you may be asked to update your information. The REN Registry has more detailed questions about seizures than the PMSIR does, so not only is it worth participating in both, but you can also choose to have your REN information shared with the PMSIR.

People are eligible for the REN Registry if they meet all of these criteria:

1. Have a diagnosis by a physician of a rare syndrome or disorder that is related to epilepsy or seizures (for example, has PMS)
2. Have had at least one seizure in their lifetime that was not caused by a fever or the direct result of a head injury. We call these types of seizures "unprovoked."
3. Is either at least 18 years old and can consent for themselves or a patient of any age that is not a ward of the state and has a parent or legal guardian that can consent on their behalf.

As a bonus, every Friday in September, the Epilepsy Foundation will be randomly selecting five participants who completed the REN survey since enrollment began to receive a $100 Amazon gift card.

To learn more about this research opportunity and to enroll, click here. If you have questions about how the PMSF or PMSIR are involved with the REN Registry,  This e-mail address is being protected from spambots. You need JavaScript enabled to view it .


Watch: PMS_Data Network webinar

Pick up some tips on collecting medical reocrds

You can watch the most recent Phelan-McDermid Syndrome Foundation webinar about the PMS_Data Network and learn tips on collecting your child's medical records. The webinar is just over half an hour long.

To watch the webinar, click here.


Watch: Developmental Synaptopathies

Consortium webinar

Learn about the upcoming clinical research study


Nearly 100 people logged on for the Phelan-McDermid Syndrome Foundation's webinar about the Developmental Synaptopathies Consortium clinical research study.

We would like to thank Dr. Alex Kolevzon of the Icahn School of Medicine at Mt. Sinai and Dr. Mustafa Sahin at Harvard Medical School for their time and insight.

If you weren't able to participate, you can watch it here. It's just over half an hour long.

The study, to be performed at six sites around the country, targets those with PMS who are 3-21 years old and have a deletion or mutation in the SHANK3 gene, which includes rings or mosaics. Assessments will take two-three days for parent reporting and medical testing at Mt. Sinai in New York; Boston Children's; Rush in Chicago; NIMH in Bethesda, Maryland; University of Texas Southwestern; and Stanford.

International families can participate, as well, Kolevzon said: "There's no exclusion." But, Sahin noted, "we can only take English-speaking patients just for the requirements of keeping everything standardized."

Making travel a bit easier will be money from the Foundation to cover some travel costs for families.

Providing funding for travel is "one of the ways the (PMS) Foundation is supporting this project," said Geraldine Bliss, PMSF Research Support Committee Chair. "We ... wanted to make sure that there wouldn't be a huge travel burden on families."

Sahin said the PMS Foundation was key to getting the consortium funded.

"I want to thank the Phelan-McDermid Syndrome Foundation for really making the grant possible for us to be able to apply," he said. "We really wouldn't have been able to get this grant funded, without (PMSF's) help, from the NIH."


GET IN TOUCH: Click here for a list of contacts at the medical

facilities that are part of the consortium.




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Mark your calendar


Make a note of these significant upcoming events.


November Starting your holiday shopping? Shop iGive.com or Amazon Smiles and choose Phelan-McDermid Syndrome Foundation as your charity of choice. Find out more here.

Nov. 18 Global Genes webinar: Learning More About Informed Consent. PMS parent Megan O'Boyle is among the panelists. 10 a.m. Register here.

Nov. 18-22 PMSF Board of Directors President Susan Lomas and Dr. Katy Phelan attend family conference in Norway.

Nov. 20 Thinking about year-end gifts for friends, teaches or neighbors? Shop online using iGive.com or Amazon Smile and a portion of your total goes to the PMS Foundation.


Nov. 25 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.


Nov. 26 Thanksgiving Day in United States

Dec. 1 Giving Tuesday. Consider donating to the Phelan-McDermid Syndrome Foundation so we can continue to support families and research. Thank you.

Dec. 15 Did you update your profile in the PMS International Registry? Do it before the end of the year.

Dec. 25 Christmas Day


Jan. 1 New Year's Day

Jan. 15 Not sure if you want to become a registered member of the PMS Foundation? It's free, and there are lots of benefits? Follow the Membership link in the menu list on the left side of this page.

Feb. 29 Ninth annual World Rare Disease Day: Join us in making the voices of rare diseases heard.

March 9-12 3rd international congress on research of rare and orphan diseases, Barcelona, Spain

April National Autism Awareness Month

April 2 World Autism Awareness Day

May Mental Health Awareness Month


July 20-23, 2016 PMSF International Conference, Caribe Royale Hotel and Conference Center, Orlando, Florida


September World Alzheimer's Month


Sept. 21 World Alzheimer's Day


October Learning Disabilities Awareness Month