1p36 DSA wants to say Thank You to all our supporters.

Sadly, 1p36 DSA did not win the Pepsi Refresh Grant in October and as we said at the beginning of the month if we didn't win, we are throwing in the towel...for now!  Stay tuned for new opportunities to support 1p36 Deletion Support & Awareness in the future!

The support from 1p36 DSA's voters was phenomenal!  Its apparent that, even though we are a small and newly formed organization, there quite a few folks who support our goals of increasing awareness of 1p36 Deletion Syndrome and providing support to 1p36 families.  There was a lot of competition for the Pepsi Refresh grant money and many very deserving causes won.

That being said, even though 1p36 DSA did not win, we did do a lot to increase awareness of 1p36 Deletion Syndrome and that is our main goal!  So many of you contacted the media, emailed your contact lists and shared  the cause on social networking sites!  Imagine, because all that effort, how many more people are now aware of this rare syndrome!

Thank you so much for your continued support of 1p36 Deletion Support & Awareness. We will continue to update the blog with information regarding our future projects, family stories and other 1p36 Deletion Syndrome news so keep checking back.  Also, many of our Pepsi Refresh Alliance Partners are still hoping to win in November so your votes are still needed to help children with disabilities and chronic illnesses.  We will keep you updated on their progress.

Mollie was diagnosed with an "unknown genetic syndrome" until she was 8

Christina, Mollie's mom and one of the first advocates for 1p36 Deletion Syndrome, tells about her daughter and how she was finally diagnosed.

When Mollie was born, she was just as God had intended her to be…. She was perfect. Ten fingers, ten toes and a head full of red hair. When she was two weeks old, her pediatrician noticed a heart murmur and sent her to see a cardiologist, the first of many specialists to care for her. Mollie had a heart defect, and as the weeks went by, her development seemed slow. It was assumed that she was slow to develop because of her heart condition. Mollie had heart surgery at only four months old and we all thought we would go on with our lives and the only remaining effects would be a scar for Mollie to show off. 


As the months passed, Mollie’s development continued to be slow and her facial features seemed to be a little unique. Mollie was sent to yet another specialist, a Dysmorphologist. This is a doctor that studies congenital malformations (birth defects). The doctor said that she was certain that Mollie had a genetic disorder but she would need testing to be sure what the disorder was. Mollie’s chromosomes were tested and all the tests came back normal, but the doctor was sure there some something they missed. This is when I first heard the term “unknown genetic syndrome”. For the next several years, we search for a diagnosis as Mollie worked hard to reach the developmental milestones most parents take for granted. We returned to the Dysmorphologist every year. Her chromosomes were checked again, and again they came back normal. We went on with our lives and Mollie continued with physical therapy, occupational therapy, speech therapy, doctors, surgeries and specialists. We went to birthday parties and play groups and other mothers would tip-toe around the fact that my perfect child was obviously imperfect by the world’s standards. As a parent, it is one of the most isolating circumstances to be in. We didn’t fit in with “normal” families. No one understood the demands of caring for a disabled child. My peers were becoming Soccer Moms and I was becoming a Therapy Mom. Who has time for extra activities when our days are filled with doctor’s appointments, therapies, IEP meetings, insurance appeals, not to mention the stress and worry. We didn’t exactly fit in with the special needs groups either. They all seemed to be gathering by diagnosis. Down’s Syndrome, Autism, Cerebral Palsy etc….they seemed to be private clubs that one could only enter if you actually had a diagnosis. 

When Mollie was eight years old we made our annual trip to UCI Medical Center to visit her Dysmorphologist. Dr. Bocian told us that she wanted to test Mollie’s chromosomes again but this time she wanted the lab to specifically look at Mollie’s first chromosome. She had just the day before our appointment read a research paper about 1p36 Deletion Syndrome. She handed me a paper and a nurse drew blood and hope grew. After searching for eight years, had we found a diagnosis?

I went home and Googled “1p36 deletion syndrome” The only thing I found was the journal article the doctor had just given me. I searched and searched and waited for the lab results. Two weeks later, the doctor called to tell me that the lab results confirmed that Mollie had a chromosome deletion. She was missing the tip of her first chromosome. Mollie’s syndrome had a name: 1p36 Deletion Syndrome or Monosomy 1p36.

I continued to search for information about the syndrome. I found a Yahoo Group of three other moms. For years, there were only five of us in that Yahoo Group… five people in the entire world who understood. Now there are over 200 members. I contacted a doctor doing research on the deletion and Mollie was invited to participate in a clinical study. We flew to Texas and stayed at Balyor Collage of Medicine for a week and the doctors ran every test imaginable. I left that hospital with more knowledge about 1p36 Deletion Syndrome than most doctors had.

In 2007, our group of five moms had grown to over 200 members and we held our first conference in Jacksonville, Florida. 2007, 15 years after Mollie was born, 7 years after she was diagnosed. As the conference started, I sat down next to Karen, one of those first 5 moms in the Yahoo Group. We looked around the room and then looked at each other with tears in our eyes. We were home. We found our family.

In 2007 I sat in a room full of people who didn’t look at my child like something was wrong with her. I sat in a room full of people who saw Mollie as I saw her on the day she was born. I sat in a room full of people who saw Mollie as God’s perfect creation.

Beth, Jordy's mom, explains why she is asking her friends and family to vote.

Thank you Beth for this heartfelt request for support.

Hey Friends--

I know over the last few months you've seen on my page a request for voting for the 1p36 DSA Pepsi Refresh Project.  Here's the deal.  1p36 chromosome deletion is Jordy's diagnosis. It is the reason she developmentally is 18 months, it is the reason we spend countless hours in therapies each week, battle seizures, insurance companies, medical systems and fight for her rights to live her life as a happy, healthy human being just as any other child.  The first 6-1/2 years of Jordy's life we lived in the darkness of not knowing what caused all of her health issues.  When we finally received a diagnosis, due to the technology becoming available, we met up with a small handful of other parents with the same diagnosis.  We finally were not alone. Over the years, as technology has improved, more and more families are finally able to have their "unknowns" become answered as they, too, receive a diagnosis.  Within the past two years, the families joined together to form a non-profit called 1p36 Deletion Support and Awareness (or 1p36 DSA.)  Today, there are over 300 people on our listserv and over 500 people on our Facebook page.  We are not alone, but we are small and we need help to spread the awareness among other physicians and clinicians to help find the other families who may believe they are also living as "undiagnosed."  With the chromosome deletion incident rate at 1/5,000 births, the numbers of children out there who are currently undiagnosed is perhaps rather high and the more we can share the general characteristics with medical providers, the more we can reach families who, like we once did, may feel completely alone in their journey raising a child with disabilities.

This past Sunday I walked through a local park and was unknowingly in the middle of a March for Down's Syndrome event.  I was in a throng of 5,000 people.  As I walked alone through this crowd, I held back the tears realizing just how lucky and blessed these families were to have a sea of 5,000 surrounding them--5,000 right in my local area who understood each other, the struggles, the joys, the pains and I longed to see the day when there, too, could be a sea of 5,000 surrounding me as we stood united with our children with 1p36 deletion.  This will only happen if we spread the word--much like the early pioneers of those with Down's Syndrome had to spread the word on their chromosome disorder and band together, we, too, are the early pioneers of 1p36 deletion.

To that end, I'll keep asking for your help.  I'll keep asking for your votes.  It's been a long journey that no family should ever have to face alone and this is one way in which you all can directly help us.  It's a matter of following the links posted and clicking "vote" or texting in your vote.  It's two seconds of your Facebook time and a world of difference in the lives of those with 1p36 deletion as we gain funds to spread the awareness. 

Read about Sarah, a sweet girl with not only 1p36 Deletion Syndrome but also a fighting spirit!

Kylee, Sarah's mom, shares about her daughter...

When I was pregnant I was so sick in the first few months, and it seemed to be morning, noon, and nighttime sickness! At twenty weeks, I found out I was carrying twins, and at that time they thought there was something going on with Sarah. That one day began an emotional roller coaster ride that six and a half years later we still haven't been able to exit. The doctors in the beginning kept putting us off, but since Sarah had a twin sister for us to compare her with, we knew something was not right. Finally, at nine months we got the diagnosis through FISH testing.

It was over-whelming to actually have a diagnosis, and very scary to start reading all the research. I am so thankful to now have the support of people all over the world through our yahoo support group and many facebook friends. Sarah has epilepsy, scoliosis, syringomyelia, eosinophilic esophagitis, feeding problems, sleep problems, and a few other minor issues! I have learned so much from this precious child, and she has shown the world her fighting spirit after spending four weeks on a ventilator this spring. It is not an easy life that we live, but I wouldn't trade either of my girls for the world!

Kristen felt lost until she found support in other 1p36 famlies

Thank you Kristen for sharing with us!
Lauren was diagnosed with 1p36 deletion syndrome when she was three months old. I knew something wasn’t right after all the doctors we ended up having to see while I was still pregnant with her. When I was 7 months along we were sent to a pediatric cardiologist after one of the ultrasound techs found an abnormality during a routine check up. Lauren weighed 5lbs and 13oz when she was born and the fact that she was diagnosed with the heart defect Ebsteins Anomaly made doctors want to due further testing to see if she had some kind of syndrome. Once her blood test came back with 1p36 deletion syndrome we were sent to a geneticist and the roller coaster ride began.


We were seen by specialist after specialist to see how this syndrome was affecting our daughter.  She suffered from horrible reflux for the first three years of her life. She had horrible sleep patterns. I honestly think she slept through the night twice the first three years. She has suffered from severe constipation and gastrointestinal problems. She was diagnosed with moderate hearing loss and had to wear hearing aids for about a year.  If we fast forward to now Lauren is doing amazing. She just turned 5.  She started walking almost a year ago, Although she doesn’t say much she gets her point across very well. She is seen by her cardiologist yearly to monitor her heart defect.  As far as her hearing goes she does not wear hearing aids anymore. Her audiologist said the her hearing basically fixed itself and is almost completely normal. Her pediatrician is amazing and put her on a special sleep medicine and she sleeps like a champ now. We still battle her constipation constantly. The newest daily battle we are dealing with is behavior. She has been pinching not only us but her teachers, classmates and friends. Not sure what we are to do there but we will figure it out I suppose.  Lauren receives occupational, physical and speech therapy weekly.

I thank god for her everyday and for all that she has taught me to this point. And I am very thankful for my 1p36 family. We have an incredible support group of awesome moms. I thank you Karen West for finding me on that lonely website and inviting me to be apart of this group. I was so lost back then and didn’t know who to turn to. Please help us raise awareness and help all of these sweet kiddos get what they need to reach their full potential.

Sign up for daily emails and you may win an iPad!

Click the link at the top of the page to learn about 1p36 DSA's very own daily email reminders and how you might win an iPad if 1p36 DSA wins 50K!

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, and....vote!

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!

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!

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

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.

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.

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".

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.

Calling all friends and supporters of 1p36 Deletion Support & Awareness!

1p36 DSA didn’t win the Pepsi Grant in August but the good news is that we were in the top 100 so we are back in the race in September.  Your help is desperately needed to get 1p36 DSA into the top 10 to win $50,000!  Your mission, and we hope you accept, is to vote three ways every day.  Voting is easy and fast.  Here is a refresher on the three ways to vote every day for 1p36 DSA:

1. Go to http://www.refresheverything.com/1p36

2. Text 101439 to PEPSI (73774)

3. Use the Facebook App http://apps.facebook.com/pepsirefresh/idea/view/id/33054c2c-ae0f-102d-b2ee-0019b9b9e205?ref=mf

 Time to vote and spread the word troops!  Lets go!