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

‘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.

PMSF puts focus on epilepsy, seizures

A number of people diagnosed with PMS also experience seizures. It's a growing topic of concern for parents, their doctors and researchers. That's why we're focusing on epilepsy to help parents and caregivers learn more about seizures in PMS and what is happening in research to stop them.

One way to know more about how epilepsy affects those with PMS is to take part in the Rare Epilepsy Network. This registry was created to collect information about rare epilepsy patients to better understand these conditions, develop treatments and improve the lives and quality of care for patients experiencing seizures.

Here's some of the information about seizures that can help to drive research into this debilitating condition:

-- In a study of 32 patients with PMS, 41% of parents reported their child had seizures.

-- Seizures can have a significant effect on quality of life. They can be associated with injury, regression and even death.

-- Your child should have an EEG and a MRI if your child has had an unprovoked (non-febrile) seizure. An EEG should be done if there are signs of behavioral changes or regression, including loss of motor skills.

-- The most common type of seizure in PMS is a staring spell, which can either be an absence seizure (usualy 10-15 seconds) or a complex partial seizure (longer episodes).

-- We don't know what the best treatments are for seizures in those with PMS or if Cannabidiol can control seizures.

Mouse model of autism offers insights to human patients, potential drug targets

By Duke Medicine News and Communications

DURHAM, N.C. -- A new mouse model of a genetically-linked type of autism reveals more about the role of genes in the disorder and the underlying brain changes associated with autism’s social and learning problems.

Scientists at Duke Health who developed the new model also discovered that targeting a brain receptor in mice with this type of autism could ease repetitive behaviors and improve learning in some animals.

Their report, published May 10 in the journal Nature Communications, suggests that among more than a dozen different lines of mice developed around the world to mirror autism caused by mutations to the SHANK3 gene, Duke researchers are the first to create a mouse in which that gene has been completely eliminated.

The total “knockout” of the gene makes the model more effective for studying SHANK3-related autism and Phelan-McDermid syndrome in humans, many of whom are missing the gene completely, said senior author Yong-hui Jiang, M.D., Ph.D., an associate professor of pediatrics and neurobiology

“This is an important first step in understanding the process of the disorder in humans,” Jiang said. “For many families affected by autism, this is something that could provide hope and potentially lead to a treatment.”

SHANK3 is essential to the function of synapses in the brain and communication between neurons.

Jiang said autism researchers worldwide could use the mouse model to study ways to compensate for the gene and improve symptoms in people with autism spectrum disorders and Phelan-McDermid Syndrome, a more profound developmental condition caused by mutations to SHANK3 and other genes in chromosome 22.

Over the past five years, researchers observed abnormal brain activity in the SHANK3 knockout mice when compared to controls. The knockout mice would vocalize less, groom obsessively to the point of losing fur, fail to heed the established social hierarchy in groups, and were often unable to locate their own homes, wandering into strangers’ nests.Jiang said autism researchers worldwide could use the mouse model to study ways to compensate for the gene and improve symptoms in people with autism spectrum disorders and Phelan-McDermid Syndrome, a more profound developmental condition caused by mutations to SHANK3 and other genes in chromosome 22.

“Some of the repetitive behaviors, inability to read social cues, and restricted interests copy many of the symptoms we see in people with autism,” said co-lead author Alexandra Bey, an M.D./Ph.D. candidate at the Duke University School of Medicine. Scientists at the University of North Carolina-Chapel Hill and Fudan University in Shanghai also contributed to the report.

In one experiment, mice were placed in a box with numerous holes and paths to explore. Curious control mice roamed while knockout mice often stuck to a small area and repeated the same routes.

“This replicates what see in many children with autism,” Bey said. “In children, perseveration is a behavior such as playing with the same toy over and over again in the same way, and not exploring new ways to interact with it.”

As they studied brain activity in the knockout mice, the researchers also found prominent changes in a receptor in the brain known as mGluR5 and other proteins that support the function of neurons and synapses, said co-lead author Xiaoming Wang, M.D., Ph.D., senior research associate in Duke’s department of pediatrics. The team tested two chemical compounds that target the mGluR5 receptor and found they could actually relieve the animals of some of their repetitive habits or enhance their learning.

“The regulation of this receptor is complex and gives rise to other behavioral challenges, but this is a clue for further research,” Wang said. “In the future, it’s possible that a similar class of drug could be tried on humans. We are interested to see our study help others around the world better understand this gene and how it affects synapses and hope the model can be generalized to other autism genes.”



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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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