Skip to content
5fc9e5d77b1fa76fcc78b's profile image - click for profile

Erin Ballou's Fundraiser:

Running for Princess Avery and the Phelan-McDermid Syndrome Foundation

Erin's Photo
Erin's Photo
Erin's Photo
Erin's Photo

BENEFITING: Phelan McDermid Syndrome Foundation

EVENT DATE: Feb 23, 2014

Erin Ballou

THE STORY:

**PLEASE MAKE SURE TO SEE THE NOTE AT THE BOTTOM OF THIS PAGE BEFORE DONATING.**

 

In February, 2014, I will be "Running for Princess Avery" – my niece -- in the Disney Princess 1/2 Marathon, and raising money for the Phelan-McDermid Syndrome Foundation, the organization that helps support families of those with this rare genetic disorder.

My brother's youngest daughter, Avery Creese, was diagnosed with Phelan-McDermid Syndrome (PMS) in September, 2013. In short, it is a genetic disorder that takes place “de novo” or 'at the beginning' and is a deletion at the 22nd chromosome, specifically 22q13. This came via a blood test after years of searching for a diagnosis to her “developmental delay.”  As you can imagine, it was crushing news for my brother and our family. We are now hoping that through advocacy, the support of friends and family and a little hard work, we can help bring awareness and assistance to the small organization which is clearly doing big things, PMSF.

There are less than 1,000 known cases of PMS in the world. That equates to about one in every 11 million.

Specifically, Phelan-McDermid Syndrome (PMS) is a genetic syndrome caused by disruption of the SHANK3/ProSAP2 gene on the terminal end of chromosome 22.  The SHANK3 gene is found in the brain, heart, kidney and other organs, though its most important role is in the brain. It supports the structure of excitatory synapses and is involved in processes crucial for learning and memory. It also has an important, if not fully understood, role in proper brain development. Defects of the SHANK3 gene are highly associated with autism. Individuals with Phelan-McDermid Syndrome often have autism or autism spectrum disorders.

There is a wide range of severity of symptoms observed in people with Phelan-McDermid Syndrome. Like other autism-related syndromes, PMS is associated with intellectual disabilities, sleep disorders and seizures. Most children with PMS have moderate to severe delays and often never develop functional language. Infants with medium to large chromosomal deletions may have very low muscle tone, poor motor control, and problems with eating and sleeping. In Avery’s case, there are unfortunately large deletions. For unknown reasons, toilet training is often difficult in this population. In spite of these issues, infants with PMS tend to be easily to amuse and adults often have a sweet disposition, both of which very much apply to Avery.

The PMS Mission as stated on its website is “to improve the quality of life of people affected by PMS worldwide by providing family support, accelerating research and raising awareness." I can tell you that in a short time of dealing with this organization, they ARE a tremendous group and a great help. My family has already experienced that.

I want to help raise awareness for Phelan-McDermid Syndrome and the PMSF by raising money through my run in honor of Avery. I also welcome those interested in joining “The Avery Team.” If you want to run in the Princess Half Marathon or were already planning on it, we would appreciate you supporting this cause, this year, and joining us.

Please consider making a donation for the PMSF, in honor of Avery, and the families affected by PMS worldwide.  I GREATLY appreciate your support and assure you that every step I take during training and at the Half Marathon in February, will be in honor of Avery, the PMSF, and my AWESOME donors!!

Thank you!

Erin

 

**Please note:  Crowdrise is set up to charge a 10% "Optional Processing Fee" on all donations.  YOU CAN OPT OUT OF THIS FEE by clicking on the optional processing fee link under "Confirm Your Donation" (Billing Information page), and changing it to 0%.**

DONATE

To This Fundraiser

$5,724

MONEY RAISED
  •  
  •  
  •  
  •  
  •  
  •  
  •  
  •  
  •  
  • Samantha Gillard

     

  • Anonymous

    $25

  • Dementia

    $25

  • Emerson & Garrett Ballou

     

  • Cuddie-Morgan family

    $50

  • Ken Jones

    $50

  • Kathleen Mahoney

    $10

  • Cheryl Kaiser

    $20

  • Michelle and Bede

    $100

  • Angela Jones

    $25

  • Watson Family

    $50

  • Sarah Shangold

    $25

  • Matt and Cole Ellis

    $50

  • Karen Molloy

     

  • Mary Lee Stets

    $25

  • Betsy Udal

    $50

  • the MacDonald family

    $50

  • Lake Eola Charter School

    $225

  • Chrissy and Ken Johnson

     

  • Christie Simmons Lampitt

    $25

  • Susan and Barry Sheckley

    $50

  • Kevin and Ninette Butler

    $20

  • Kristin Hempel

    $50

  • J David Waugh

    $25

  • Jessica Lawson

     

  • Kristen

    $50

  • Anonymous

    $50

  • Wendy LeBlanc

    $25

  • Ann-Marie

    $25

  • John and Esther Quinn

    $25

  • Anonymous

    $150

  • Alpa Patel

    $25

  • Kelley, Jesse, Grant and Frank

    $100

  • Lisa Allard

    $25

  • Grenier Family

    $25

  • Tracy Boardman & Adam Way

    $25

  • Jack and Ella

     

  • Jen and Aaron Krueger

    $20

  • The Casa Family

    $100

  • Mark & Joyce Ballou

    $125

  • The Hodgson and White Family

    $25

  • Robert Zwerner and Trude Neill

    $100

  • Pat Feeney

    $20

  • Aunt Margit & Uncle Wayne

    $100

  • The Boothroyd Family

    $25

  • AP & AD

    $100

  • Sarah Jean

    $50

  • Michelle Ervin

    $100

  • Linda for Tyler Heath-7 yr old with PMS

    $100

  • Anonymous

    $50

  • Melanie Ellis Stella & Dot

    $103

  • Amanda Hanzlik

    $20

  • Colleen Johansen

    $15

  • Kate

    $100

  • Ella and Lucia Magnuson

    $50

  • A. Fulda

    $25

  • Wells family

    $50

  • Horowitz Family

    $50

  • Rabinowitz Family

    $50

  • Pattison Family (Bristol Branch)

    $30

  • Doran Brown

    $50

  • Karen LaMalva

    $25

  • Wiley Ilowit

    $30

  • Gloria Bent

    $30

  • Maria Stanford

    $25

  • Will and Emma Palmieri

    $30

  • Deborah Chabot

    $30

  • The Braithwaites

    $25

  • Shawn Santasiere

    $25

  • Till Family

    $25

  • Victoria Soffer

    $25

  • George Eliou

    $25

  • Jean Johnson and family

    $65

  • Jim and Barbara Bezdek

    $25

  • The Gorin/Staceys

    $25

  • Heather and Mark McDonald

    $25

  • Lisa Tagliarino

    $35

  • Tami & Tim

    $25

  • Ben Von Klemperer

    $50

  • jeff piskun

    $20

  • gus and arlene gibbs

    $50

  • The Dunstan Family

    $25

  • Brant and Katie Parsons

    $50

  • Jenn Bellino, Joey and Julia

    $100

  • Jenn Bellino, Joey and Julia W

    $108

  • Ron & Marsha Creese

    $50

  • Patricia Baldauff

    $100

  • The Hodrinsky Family

     

  • The Hodrinsky Family

     

  • Don and Leslie Whalen

    $50

  • Stephanie says GO EST

    $35

  • Elliott Roman & Family

    $25

  • JZ

    $25

  • April Vella

    $25

  • Colon-Semenza Family

    $25

  • Stefanie Wille

    $25

  • Jane Allen

    $25

  • Marilyn and Trey Tillander

    $50

  • Alder Family

    $108

  • Caroline

    $20

  •  
  •  
  •  
 

114% Raised of $5,000 Goal

Fundraise for this Campaign

The Team: $5,724 TOTAL RAISED SO FAR

JOIN THE TEAM
Fundraiser Title

Erin Ballou

Amount Raised

$2,835

 

57% Raised of $5,000 Goal

Fundraiser Title

Esther Soffer Roberts

Amount Raised

$995

Fundraiser Title

Greg Creese

Amount Raised

$615

Fundraiser Title

Melanie Ellis

Amount Raised

$474

Fundraiser Title

Nancy Gifford

Amount Raised

$425

Fundraiser Title

Diane Quinn

Amount Raised

$280

Fundraiser Title

Kristin Hempel

Amount Raised

$100

Fundraiser Title

Patricia Baldauff

Amount Raised

$0

Donor Comments

Caroline

Caroline

DONATION: $20

3 years ago

Alder Family

Alder Family

DONATION: $108

3 years ago

Marilyn and Trey Tillander

Marilyn and Trey Tillander

DONATION: $50

3 years ago

Jane Allen

Jane Allen

DONATION: $25

Thanks Nancy 3 years ago

Stefanie Wille

Stefanie Wille

DONATION: $25

3 years ago

Colon-Semenza Family

Colon-Semenza Family

DONATION: $25

3 years ago

April Vella

April Vella

DONATION: $25

3 years ago

JZ

JZ

DONATION: $25

3 years ago

Elliott Roman & Family

Elliott Roman & Family

DONATION: $25

Your Amazing Good luck !! 4 years ago

Stephanie says GO EST

Stephanie says GO EST

DONATION: $35

4 years ago