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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

Thursday
Sep162010

We’re Climbing!


We’ve climbed 11 spots in less than a week to 48th place!  Keep up the good work.  We need to be in the top ten by the end of the month.  Thank  you everyone for voting and sharing with your friends and family.   Remember to vote three ways every day.   Every vote counts.  Every vote brings us closer to our goal.

Thursday
Sep162010

Her Family's "Little Miracle"

Read Kaylee's story from her mom, Sherry:
"Kaylee's entrance into this world marked the commencement of a miraculous journey- a journey of challenges and obstacles, a journey of beauty, grace, and hope. She made her entrance with a small deletion on her 1st chromosome, and so began our family's walk with 1p36 deletion syndrome. Despite a small deletion on her 1st chromosome, Kaylee provided our family with multitude of blessings, trials, and lessons. Her small body arrived with feeding difficulties, acid reflux, infantile spasms a catastrophic seizure disorder, hearing loss, umbilical hernia, blocked tear duct, farsightedness in both eyes, and hospital stays at Driscoll Children's hopsital in Corpus Christi. As always, Kaylee flaunted her feisty spirit and persisted on to complete a two month duration of ACTH therapy a very strong sterioid injections. We are blessed to say Kaylee's seizures finally were brought under control with ACTH therapy, a drug that gave Kaylee the upper hand on epilepsy. But to limit Kaylee's existence and achievements to the confines of a genetic condition would be the ultimate disservice to our little fighter girl and our God. Kaylee is a testament of God's faithfulness and timing. Kaylee is a beacon of light in a shadowy world of hardship. She is an illustration of perfection in her innocence and resiliency. She is a representation of all that is good. She is a daughter and a sister who has been the guide for her family and their faith on a walk into the unknown. She is an expert teacher on living each day and each moment in the present. Though her strides thus far have already been numerous, she undoubtedly has much more to share with this world.

During this past year, our family has witnessed the most incredible outpouring of love and support from our family, friends, and complete strangers. More kindness and compassion and unselfishness, then we could have ever, ever imagined. I have, along the way, also met the most magical children and families that I would have never had the opportunity and the privilege of meeting had it not been for this journey. I have watched with immense joy and hope, the children and families who are accomplishing many wonderful milestones, some small or big, but equally awesome accomplishments. I have also watched with equal pain and sorrow, the faces of families whose children would not make it. A year ago I would never, in my wildest dreams, have imagined having to watch parents and siblings and loved ones, say goodbye and journey forward in this life, without their precious children. That part of the journey I will never be able to reconcile.
Each 1p36 child is so unique and each one of them have their own time frame of when they will reach their next milestone. A certain few of these children appear from the outside, to be flying through life and it's milestones, but many harbor within them, medical issues and impending obstacles, waiting for an opportune time to show their faces. Others fight everyday, every moment, just to be here with families who would move mountains to keep them here with them. One thing they all have in common is that they are all brave mighty fighters. Our children indeed teach us so much about life and how to be grateful for the "little" things. I am forever grateful for my Kaylee, "my little miracle".

 

Tuesday
Sep142010

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"

 

Sunday
Sep122010

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:


Sunday
Sep122010

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."