Callie Hoots Speaking at the 2010 1p36 DSA Conference

At the 2010 1p36 DSA conference in Salt Lake City, UT we heard from Callie Hoots about People First Language and the "R" Word.  Callie was 22 years old at the time and has 1p36 Deletion Syndrome.

Here is video of Callie's speech.  She is an inspiration to all of us!

The People First Movement seeks to eliminate stereotyping of people with disabilites. They promote respectiful lanquage that places the person first and then the disability.  

Callie's mom, Cyndi Hoots says: "People who do not have a love one who is challenged by a disability, those who are companionate and really want to use the correct terms and language, look to us for guidance and listen to our use of language for the correct way to say things.  Therefore, it is very imperative that we, the ones who advocate and support those who are differently abled, use People First Language and therefore, lead by example." 

For examples of People First language and more information, please visit 

http://www.txddc.state.tx.us/resources/publications/pfanguage.asp

You can also take the pledge to End the Word at www.r-word.org.

Upcoming 2012 1p36 DSA Conference News

Details are still being finalized for the 2012 1p36 Deletion Support & Awareness conference in July but we thought you'd like to know about a some of the speakers in the line up.  

We're excited that Dr. Robert Hopkin, associate professor of clinical genetics at Cincinnati Children's Hospital, will be at this year's conference!  Dr. Hopkin was the keynote speaker at theDr. Hopkin at the 2011 conference. 2011 conference and, to our delight, held an extended question and answer session with the families.  His insight is invaluable as he spends much of his time at Cincinnati Children's Hospital treating patients with genetic disorders including those with 1p36 Deletion Syndrome.  Dr. Hopkin is committed to improving outcomes for patients afflicted with genetic disorders and he has become an important advocate for research on specific symptoms of 1p36 Deletion Syndrome.

Dr. Hopkin will be joined by Ashley Brazil, a genetic counseling graduate student at University of Cincinnati.  Ashley is focusing her thesis project on 1p36 Deletion Syndrome and will present details about the project and will be recruiting families to participate in a survey.

You will be excited to hear that Dr. Lisa Shaffer, co-founder of Signature Genomics and long time supporter of families affected by 1p36 Deletion Syndrome will also be attending the conference in July.  Dr. Shaffer will give a presentation on 1p36 Deletion Syndrome and its history. She will also talk about what research has been done up to now, which much of it she has been a big part of.  Dr. Shaffer has been offering her expertise and support to 1p36 DSA since before the organization officially existed.  We are thrilled and grateful that she will be able to join us!

We are also happy that Dr. Bernice E. Morrow, Professor of Genetics at Albert Einstein College of Medicine, will also be speaking on her 1p36 Deletion Syndrome research.  Dr. Morrow has been focusing on how 1p36 Deletion effects genes found elsewhere in the genome.  

So as you can see, this year's conference is shaping up to be very informative.  If you haven't registered yet, please do.  Early bird registration has been extended to the end of May.  Here is the link to more information about the conference and how to register:  http://www.1p36dsa.org/2012-conference-info/ 

Hope to see you in July!

First Time Conference Attendees Have a Chance to Win a Scholarship!

We’re excited to announce that due to the hard work and generosity of Julie and Jason Friedman and their annual 1p36 DSA scrapbook fundraiser, 1p36 Deletion Support & Awareness is able to offer 4, $650 scholarships to this year’s conference.

The scholarships are meant to allow families who have never been able to go to a 1p36 DSA conference in the past have the opportunity to attend. There are a few requirements to be eligible.

Click the link below to find out more and complete the online application. All applications must be received by April 22nd, 2012.

 2012 1p36 DSA Conference Scholarship Application
  http://www.1p36dsa.org/2012-conference-scholarship/

Update on Wednesday, May 16, 2012 at 6:54PM by Carrie Daggett

The winners of the scholarships have been chosen.  Thank you to everyone who applied and a special thanks to Julie and Jason Friedman who's fundraising made the scholarships possible!

Read about registering for this year's conference and an exciting conference scholarship opportunity in the
Winter/Spring edition of the 1p36 DSA newsletter!

Today is World Rare Disease Day! 

There are over 350 million people worldwide affected by a rare disease.  In the US, a rare disease is defined as one that effects fewer that 200,000 individuals in the country at any given time.  In Europe its defined as one that effects fewer than 1 in 2000 births.  

1p36 Deletion Syndrome is a Rare Disease.   It is estimated to effect only 1 in 5-10,000 births.  Please join us and millions of people across the world in support of our loved ones with 1p36 Deletion Syndrome and all people who are living with rare disease!

For more information about World Rare Disease Day please visit:

http://www.rarediseaseday.org/  

National Organization of Rare Disorders

The Global Genes Project