P-MS Board of Directors to Hold a TELETHON!

The Phelan-McDermid Syndrome Foundation (PMSF) Board of Directors will hold a Fundraising Telethon and Regional Challenge event on Saturday, October 6th from 2 PM to 5 PM at the PMSF headquarters as part of their annual meeting.

The Phelan-McDermid Syndrome Foundation (PMSF) is a support group for those impacted by Phelan-McDermid Syndrome. The foundation represents 800 people with Shank3 deletions or mutations. Shank3 is a gene on the 22nd chromosome, which, when deleted or damaged, can cause autism. ...

One current focus of PMSF is utilizing a family registry detailing specific deletions and symptoms of those affected. This registry is a one of a kind database that can be used for research purposes. The foundation's genetic registry is providing researches with 'never-before-available' data and biosamples. The research focusing on the genetic causes of autism is resulting in life changing discoveries, many of which will eventually lead to better lives for millions of kids on the spectrum. The foundation’s research grants help fund some of the most brilliant minds working on the most advanced genetic research.

DONORS - HOW CAN YOU HELP?

- Make an online donation prior to October 6th at 5:00 p.m. (Eastern Time).
http://22q13.org/j15/index.php?option=com_content&view=article&id=113&Itemid=106
The link will take you to the pmsf.org website. Click DONATE. You will be directed to paypal to process your donation. Be sure to click ADD SPECIAL INSTRUCTIONS TO SELLER. Please type in the memo field "BOARD OF DIRECTORS TELETHON - REGION 2".

- Call the Board of Directors on Oct 6th from 2 p.m. to 5 p.m. (Eastern Time) at 941.485.8000 to process your donation. Be sure to indicate that you are supporting REGION 2!

- E-mail Cheryl Herbold @ Cheryl@pmsf.org or Jack Sweeney @ Jack@pmsf.org to process your donation. Be sure to indicate that you are supporting REGION 2!

Please encourage your friends and family to participate. This fundraiser is a Regional Challenge. When you indicate you are supporting REGION 2, you are supporting PMSF families located in Iowa, Minnesota, Nebraska, North Dakota, South Dakota, & Wisconsin.

P-MS In The News: THE WALL STREET JOURNAL

The Wall Street Journal published an article titled Progree in Identifying the Genetic Root Cause of Autism.

Here is the paragraph that refers to Phelan-McDermid Syndrome!

"Identifying genetic causes can also help families find support groups, research programs and potential treatments tailored to their child's specific needs. For example, one of the abnormalities Mount Sinai tests for is the SHANK3 mutation on chromosome 22. It causes an autism-spectrum disorder and Phelan-McDermid Syndrome, in which communication between nerve cells is disrupted, impairing learning and memory. Researchers at Mount Sinai found that an insulin-like growth factor could reverse that disruption in mice and are now testing it in children aged 5 to 17 with SHANK3 mutations."

"Once you know the genetic cause of an intellectual disability and understand the effect on the brain," says Alex Kolevzon, clinical director of the Seaver Autism Center at Mount Sinai, "you can start to think about targeted treatments."

Read the entire article by clicking this link.
http://online.wsj.com/article/SB10000872396390444813104578016280501020620.html#articleTabs=article

PROGRESS...Slowly But Surely!

I really never thought Ashlyn would be able to ride a bike.  We have tried and tried and tried to get her to coordinate the pedaling movement to no avail.  Today, I get an e-mail from school and it reads:  "Please come to school a bit early if you can AND bring your camera.  Ashlyn has something REALLY special to show you."

Of course I head up to school to see what's up.  AND...this is what I see.


The school had brought in a stationary peddler for Ashlyn to practice the pedaling movement.  It was obviously just enough to give her to boast to get the movement down.  She still has a LONG way to go, but this is a start.  She was running into walls and couldn't get turning around down.  HOW EXCITING!

World Orphan Drug Congress - Raising Awareness

THANK YOU - Megan O'Boyle, Board Member of the Phelan-McDermid Syndrome Foundation, for presenting a patient testimony at World Orphan Drug Congress USA 2012.  We're so proud you have chosen to be a voice for the P-MS family!

Annie's Golf Classic - PMSF Benefit

Annie's Golf Classic will be held on November 1st, 2012 in the Trophy Club, TX (Dallas area)!

The event is a benefit for Phelan-McDermid Syndrome Foundation.

CLICK HERE TO REGISTER!

2012 Phelan-McDermind Syndrome Conference - Buidling Rays of Hope

The 2012 Phelan McDermid Syndrome Conference was held in Orlando, FL July 24th - 27th.  What an amazing experience!  This was our families first conference.  IMMEDIATELY...I felt at home.  I finally...finally found the family I've always needed.  They all got it...they understood...they accepted us...UNCONDITIONALLY!  It is so hard for me to put this experience into words.  So...I'm going to share videos.

This is a video I created.

This is a video created by the Kuehl family.


This is a link to a powerpoint video a family posted showing their conference experience!'
CLICK HERE

What an AMAZING experience!  Nearly one and a half months after the conference, I find myself LONGING to see these families once again.

Here is a link to all the videos posted during the PMSF conference.
CLICK HERE