Chloe's Mom Knew There was a Missing Piece to the Puzzle

Here is what Chloe's mom, Jeri, had to say about their 1p36 journey:
"Chloe was born with severe respiratory issues, failure to thrive, low tone and at six weeks developed seizures.  After seeing a neurologist we found out that Chloe was born with a condition called agenesis of the corpus callosum (missing the part of the brain that connects the two halves of the brain). This was causing her seizures. After researching her condition we were convinced that it couldn't just be this condition. That her facial features and other slight differences in appearance had to come from something else.  It took Chloe refusing to eat and almost dying before we were able to get her true, complete diagnosis, 1p36 Deletion Syndrome. I can't help but wonder if we wouldn't have been able to prevent so many of her issues and illnesses if we would have found out sooner.

Upon receiving her diagnosis I immediately went to find as much information as I possibly could. Sadly enough there wasn't much information to be found and what I could find was depressing and misleading. Finally, I found a wonderful group of people through yahoo groups and Facebook that led me in the right direction. Without information, support, funding for treatment and the ability to make this condition known to our medical facilities and pediatricians so many more children will go undiagnosed.  The families and children affected will not know the true hope that exists for them and the future the right treatments can bring"

Vote for 1p36 DSA & Friends

1p36 Deletion Support & Awareness is happy to support some excellent and very deserving ideas in the Pepsi Refresh Grant Program focusing on kids, health or both.  The supporters of these ideas are also voting for 1p36 DSA every day.  And, we need them!  We’re asking that you help us show support for our friends by using your other 9 daily votes to spread the love.  Click below for a quick way to vote:

 Vote Everyday and Spread the Word!

Meet 8 yr old Josh with 1p36 Deletion Syndrome

Josh's mom, Michelle, shares about their experience with 1p36 Deletion Syndrome.
"Josh was diagnosed with 1p36 deletion syndrome when he was 3 weeks old. He was having several seizures a day which led to the diagnosis.  When I first started to do research on 1p there was very little information out there.  I was told that there were only 10 to 20 families worldwide that had his diagnosis.  Obviously, that number has changed.  His geneticist told us that he would have severe mental retardation and would probably not know who we were.  When Josh was 17 months old I found another 1p mom on-line.  Her daughter was the same age as Josh.  Before I met Annette I felt alone.  My family and friends didn't understand what I was going through. What Josh was going through.  Annette understood.  Our first conversation we talked for hours.  Seven years later she is one of my closest friends,  I found a support group when Josh was 18 months old and by the time we had our first 1p conference I felt like I already knew all of the families.  These 1p families are my family.  We have had many doctors and therapists that have rejected Joshua.  They don't know what 1p36 deletion syndrome is, and they simply do not want to be bothered.  We have moved several times to find the best help for Josh.  Through all of our ups and downs I feel blessed to have found a small group of people that understand my life.  A small group of people that get upset when Josh isn't treated fair. and a small group of people that can rejoice with me when my 8 year old fed himself for the first time. It is so important to spread the information about 1p.  Our children have the right to reach their fullest potential. We need so desperately to spread the knowledge about 1p36 deletion syndrome.  One reason is that new parents could be misinformed the way I was.  Yes, my son does have mental retardation.  However, he knows who I am.  He actually understands just about everything you say to him.  He has the greatest sense of humor. He plays with toys, loves to be read to, and has no problem signing no when I tell him to do something. So the doctor who told me that he would probably never know who I am was completely incorrect.  Josh also has health issues.  He has scoliosis, kyphosis, nystagmus, strabismus. and epilepsy.  He does not walk or talk.  I know sounds like a foreign language, right. This is another reason why it is so important to have doctors who know what to look for. He is a smart little boy trapped in a body that doesn't want to work.  I don't want families to struggle the way we have.  No one deserves to not know what to expect.  Information is power. Please help us help our children."

Just a few of the beautiful reasons for vote for 1p36 DSA!

Some wonderful videos have been created to highlight our 1p36 Deletion Kids and their families at home and at our annual conference!

2010 1p36 DSA Conference Video  by Joseph’s Dad, Ken

A Celebration of Children with 1p36 Deletion Syndrome by Mollie’s Mom, Christina

A very adorable Sammie was in the news to bring support to 1p36 DSA's Pepsi Awareness Campaign!

Pepsi funds sought for little-known genetic disease.