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What is 1p36 Deletion Syndrome?

 

1p36 Deletion Syndrome is a chromosome disorder that can be characterized by moderate to severe intellectual disability, delayed growth, limited speech ability and distinct facial features. It is estimated that 1p36 Deletion Syndrome occurs in one in every 5,000 to 10,000 births though many individuals still go undiagnosed. Though many people have never heard of 1p36 Deletion Syndrome, it is the one of the most common chromosome deletions. Learn More

Saturday
Sep252010

We're coming into the final stretch...

Its the weekend but we still need you to vote!  We are counting on you!  Don't forget to vote the three ways everyday and please be sure to support our voting partners.  
We can do this together!
Click on each link below to vote on Pepsi Refresh Site. 

The number to Text to Pepsi (73774) is next to the link.

1p36 DSA - 101439
International Retts Syndrome Foundation - 100842
Center for Courageous Kids - 102408
Children's Rare Disease Network - 102614
Brenden B McGinnis Congenital CMV Foundation - 101692
National Inclusion Project - 102308
Lake Reba Handicap Accessible Playground - 102102
After School Arts Program - Tualatin Elementary - 100321

Thursday
Sep232010

Don't forget to vote & spread the word!

We are at #44!  Thats good but only the top 10 win.  Have you voted?  Have you asked everyone you know to vote?  Its up to you!  Lets make this happen!

Wednesday
Sep222010

14 month old Caden has something to teach us all

 

 

My name is Caden. I was born July 9, 2009 in Batesville, Arkansas. At the age of four days I was flown to Arkansas Children’s Hospital. Where I would spend the next seven weeks of my life. While there my family discovered I was born with a very rare heart defect known as Left Ventricle Non-Compaction Cardiomyopathy and even rarer known 1P36 Deletion Syndrome. Because of this I suffer from seizures, infantile spasms, low muscle tone, possible hearing loss, and developmental delays. I spend time each day in physical, occupational, speech, and/or developmental therapy. I continue to make improvements each week and hopefully one day will be able to help find a cure for Left Ventricle Non-Compaction Cardiomyopathy and make doctors and others more aware of 1P36 Deletion Syndrome.

Hi, we are Caden’s parents, Bartley and Tammy. We are persuaded to make known and help find a cure and better treatment for Left Ventricle Non-Compaction Cardiomyopathy and 1P36 Deletion Syndrome that have affected Caden’s life. God has blessed us with 3 other healthy children; but has taught us the most through Caden and his life. Please take time to make yourself and others aware - before something strikes your family or friends!

 

 

Tuesday
Sep212010

EVERY VOTE COUNTS!

Hooray!  We're up another 3 spots to #45.  
Only 10 days left to make it to the top 10! 
Every vote makes a difference and helps us get to the goal of $50K!
Each vote you make and each person you get to vote helps children & families affected by 1p36 Deletion Syndrome.
Remember to vote for us and for our Pepsi Refresh partners who are also helping us to win!
1. Pepsi Refresh Site - click on each cause to vote on their page.
2. With your Facebook Account
3. Text the numbers 101439 to 73774 (PEPSI) - your normal texting charges apply

Tuesday
Sep212010

Her mother's persistence got Sequoya the correct diagnosis.

 

"My sweet Sequoya was diagnosed with 1p36 deletion at the age of 3. Sequoya spent much of her first year in the hospital fighting for her life, under went open heart surgery at 6 months old, and was treated by many, many specialists and therapists throughout her young life. After years of searching for the cause of her heart condition and severe physical and developmental delays, I finally found what I had been looking for... a blog about 1p36 deletion, I researched this condition and asked her genetic doctor to do a blood test checking for this syndrome. Finally, Sequoya had a diagnosis and my family and I had a place to belong. The support, love, and information provided by other families affected by this syndrome has been invaluable to me. Awareness is key!"  
From Sequoya's mom Elisha.