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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


Tabitha's parents finally get an answer after a year and a half of wondering.


Tabby's mom Karen writes about finally getting the 1p36 diagnosis:


Tabitha was diagnosed with Monosomy 1p36.2 at the age of 1 1/2 years old. The first year and a half of her life was spent with a lot of what I call "symptomatic diagnosis's" . Meaning, a lot of diagnosis's that were merely just symptoms of Monosomy 1p36 such as scoliosis, reflux, epilepsy, minor heart deformities, etc.


We knew that there had to be a bigger reason for all of these so called small diagnosis's we were receiving. I remember that genetic testing wasn't even pushed by our doctors and that we were the ones who pushed for the testing because we demanded every avenue be taken.
At first, the genetic doctor suspected a form of mitochondrial disease in Tabitha. We were to travel to another state for further testing. A few days before our scheduled trip he called me with the phone call I will never forget. "Mrs. West, I have the answer!" I was somewhat relieved and shocked all at the same time. This diagnosis was not terminal and for us that was the best news we could get! We also learned that our daughter's life was surely not going to be easy for her...or us. She would require many therapies, and many specialists. She will be at high risk for many illnesses, and when/if (more specifically WHEN) she learns to walk, it would be at a much later time in life than most people. Every progress will be a slow progress, and sometimes it will feel like there is no progress being made at all.


It has been a "different" journey for us. Our life is never boring and Tabitha has taught us, our friends and family that the joys in life are not to be taken for granted. And also patience...patience is key. Patience for wisdom in our medical community, and patience for us while we wait and watch this unheard-of syndrome, become more and more known every year.



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


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!


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!





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