Raising Awareness - Story About Sebastien & Jeans Day in the UK

http://www.thisislincolnshire.co.uk/Children-like-Sebastien-helped-Jeans-Day/story-19810688-detail/story.html#axzz2fFkP2gM8

This story is about a PMS child, Sebastien, and his family raising awareness for PMS!

PMS September Newsletter

http://myemail.constantcontact.com/-PMSF-September-Newsletter.html?soid=1104174981954&aid=cVoO8lt6UNE

Click this link to read the PMS Foundation Newsletter!

PMSF July Newsletter

The July Newsletter contains information about the 2014 Family Conference!

http://myemail.constantcontact.com/-PMSF-July-Newsletter.html?soid=1104174981954&aid=9TSGGgUSTf4

Study Catalogs Features of P-MS

An article was recently released that mentions many features of P-MS and includes information about how deletion size plays a role.

http://sfari.org/news-and-opinion/news/2013/study-catalogs-features-of-phelan-mcdermid-syndrome?utm_source=Autism+research+news+from+SFARI.org&utm_campaign=5c8167554b-SFARI_Newsletter_130716&utm_medium=email&utm_term=0_0a60ccb345-5c8167554b-388495566

Addi's Angels - Raising Awareness

Addi's Angels will be having a fundraiser to help support the Phelan-McDermid Syndrome Foundation on Saturday, May 4th in Loganville, GA.

Check out the Web Site
http://addisangels.org/

Press Release
http://www.newtoncitizen.com/news/2013/apr/29/fundraiser-for-child-with-rare-condition-takes/

PMSF International Associations

The Phelan-McDermid Syndrome Foundation has announced a few new International Associations.  Check them out through the weblinks below.

Spanish
http://www.22q13.org.es/

Italian
http://www.aisphem.org/index.php/en/

French
http://www.lauradephelanmcdermid.com/

PMSF APRIL NEWSLETTER

Click the link below to read the Phelan-McDermid Syndrome's APRIL Newsletter.

http://myemail.constantcontact.com/-PMSF-April-Newsletter.html?soid=1104174981954&aid=VbSQGCI95gI

Raising Awareness - P-MS Mother Tells Son's Story

Geraldine Bliss speaks about her son's P-MS Diagnosis and her involvement with the Phelan-McDermid Syndrome Foundation.  The P-MS Foundation is so blessed to have Geraldine as an advocate for its families.

http://inspiredphilanthropist.com/2013/04/14/phelan-mcdermid-syndrome-spreading-awareness-about-a-little-known-medical-condition/

PMSF MARCH NEWSLETTER

PMSF MARCH NEWSLETTER (Click the blue hyperlink to view the newsletter!)

Contains articles about the 35 Hour Giving Challenge, UK Gathering, Reigstry IPAD Giveway, Rare Disease Day, and the 2014 Family Conference.

Fundraiser - The Giving Partner Challenge

The Giving Partner Challenge was held toward the beginning of March.  This was a fundraiser based out of Sarasota, FL.  The Phelan McDermid Syndrome Foundation opted to participate in this challenge to raise awareness for PMS in hopes of earning donations to help aid research.

PMSF soared above the competition.  A total of $145,015 was raised to benefit PMS.

Here is the 36 Hour Giving Challenge breakdown!


$90,102 - Leaderboard Donations$15,900 - Matching Gifts$13,013 - PayPal & Check Donations$20,000 - Grant for Unique Gifts$5,000 - Grant for Profile Clicks$1,000 - Grant for the first 50 donors to give $50 or moreGrand Total.. $145,015

Thank you to EVERYONE who donated funds to PMS.  The foundation joined hands with families all over to world to make this event a HUGE success.  GREAT JOB PMS FAMILY AND FRIENDS!

PMSF Research Brochure

http://share.snacktools.com/FC7FB7BA9F7/fu5arsfm

The Phelan-McDermid Syndrome Foundation has released a research update.  Please take a minute to read the update and share with  your family and friends.

This is a great tool to share with those interested in donating to PMSF!

Katy Phelan Blogs: P-MS Adult Onset

Dr. Katy Phelan recently wrote a blog for Sfari about Adult Onset of P-MS.  Recently, a few studies have been released about a few adult patients with Phelan McDermid Syndrome.  The studies indicate regression in cognitive, behavioral, and motor skills as patients age.  (Click on the link below to read her full blog!)

http://sfari.org/news-and-opinion/blog/2013/guest-blog-adult-onset?utm_source=Autism%20research%20news%20from%20SFARI.org

Phelan-McDermid Syndrome: RESEARCH Clinical Report of 70 yr Old Woman

Quite an amazing clinical report was released recently.  It is about a 70 year old woman diagnosed with Phelan-McDermid Syndrome (P-MS).  It is amazing simply because we aren't aware of very many adults living with P-MS.  Most patients diagnosed are children.

http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.35597/pdf

Who is Phelan-McDermid Syndrome: Mikayla

MEET MIKAYLA



July 13, 1998, Mikayla "Miki" Renee graced us with her early arrival. Almost 6 weeks early, she weighed 7 pounds, 3 ounces. Miki was struggling to breathe and had low blood sugar. She displayed severely low muscle tone, similar to a rag doll. She was taken immediately to the Special Care nursery. While there, at only about 3 hours old, Mikayla stopped breathing. She was put on a breathing tube and moved to the Neonatal Intensive Care Unit. Miki was born with one non-functioning multicystic kidney. She had some touch and go moments, but fought a great fight and finally came home at 7 days old.

She had a little bit of feeding trouble, and we knew she was premature, but thought she was pretty healthy.

At 3 weeks old we received the diagnosis of Phelan McDermid Syndrome. We were obviously devastated but unconditionally loved our daughter. The boxing gloves went on, and have never come off.

Mikayla developed respiratory issues at a young age and spent a lot of time in the doctors and hospital. By the age of 6 she seemed to be outgrowing it, thankfully. Age 8 was a memorable year. She was fully potty trained and diagnosed with both hypothyroidism and lymphedema.

Mikayla's speech began very slow, but has continually increased as she has gotten older. She is 14 years old and speaks in sentences most of the time. She is such a happy girl, most all of the time. She is doing amazing at life skills, and is continually reaching milestones we have been praying for.

Mikayla has been blessed with a large family. Two sets of parents, a sister and 4 brothers. She is adored by all that meet her. She is our "Miracle Mikayla."


Mikayla doing puzzles on the Kindle!

This story was told my Mikayla's mother, Jodi.

P-MS Makes the Compassionate Allowances List

Towards the beginning of December, the Social Security Administration announced that Phelan-McDermid Syndrome has been added to the Compassionate Allowances List.

Read the Press Release...

http://www.socialsecurity.gov/pressoffice/pr/compassionate-allowances200conditions-pr.html

What does this mean?  Families diagnosed with Phelan-McDermid Syndrome will now be fast-tracked through the Social Security screening process.  It doesn't mean families will automatically qualify for services.  (Social Security is an income based program.)  It will help those who have been denied because Social Security couldn't prove whether P-MS was a disability. 

Compassionate Allowance Website

http://www.socialsecurity.gov/compassionateallowances/