Print Friendly and PDF


Translate Website

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


Clear 3 minutes from your calendar on Oct 1st...

3 Minutes!  
Thats all it takes to vote three ways for 1p36 DSA!  
We know!  We timed it!

Of course we want you to vote all three ways every day but you have a very special mission assigned for Friday October 1st!  We are asking that you vote first thing on Friday morning.  Voting begins for October at 6am Eastern time on October 1st.  The amount of votes we get those first two days will determine where we place on the leader board for the rest of the month.  Wouldn't it be great to start out our final month in the top ten?!  Word on the street is that some 1p36 voters on the west coast are going to set their alarms for 3am PST just to get their votes in first thing!

If you were paying attention, you might have noticed that we said "final month".  Its true.  1p36 DSA wants to win in October.  If we don't, we will sadly admit defeat.  But we'd rather be celebrating a great victory for all children and families affected by 1p36 Deletion Syndrome!  You can help us do it!  Time to put the pedal to the metal, get the lead out, take it to the streets, shout it from the roof tops,!


3 Days Left and Every Vote is Needed!

Have you become complacent about voting for 1p36 DSA? Don't despair!  Our position this month will determine where we start off next month.  And next month we want to start off strong!  New exciting information and strategy to get us in the money coming soon so keep the faith and keep voting! 
Remember that every vote counts!   


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!