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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

Sunday
Dec072014

Fundraise with something you enjoy. (in this case, beer)

After hosting a few fundraisers and seeing what was successful and most effective, here are some ideas to help you setup a great fundraiser for 1p36 Deletion Support & Awareness.

Start early – on the order of 4-6 months before you plan to have the fundraiser.  This much advance planning will help you find time for everything and make it easier for you to coordinate with potential host locations.  It also allows adequate time to secure donations if you pursue them as a means to raise money.  Some companies require donation requests to be made with a minimum number of days or months in advance (I encountered one to be 6 months).

Follow the guidelines and recommendations in the 1p36 DSA Fundraising Guide (available at www.1p36dsa.org/fundraising).

Look for and consider a host location that you’d spend time at anyway – if it’s a fun/appealing enough place to draw you (and others) in without there being a fundraiser, it’ll already be well attended; the extra incentive to help a good cause will simply improve your turnout.  Focus on local businesses instead of popular chains/franchises – the earning possibilities can be more flexible and attendees could be more generous while supporting a local business.

Focus on raising money through contributed/donated items (100% proceed, raffle, auction) rather than raising money via some small % of sales during the event.  Definitely consider raffle giveaways or silent auctions; request donations for items that you (or people in general) will be interested in.  Be persistent in your requests: cover a lot of sources and follow-up if necessary. Also put together a raffle/auction brochure book to send with friends/family to their offices and other places that may allow exposure of the event.  Allow one page per item, with a quality picture and give a good description with approximate retail value.  It’s also a good idea to preface the item pages with a page about 1p36 DSA (such as the “About 1p36 Deletion Syndrome page in the 1p36 DSA fundraising guide) and even a personal intro page with something about your child (including a picture or two); in fact the personal part could be great use as a cover page.  During the fundraiser, you can pull out the pages for each item and place them out to advertise the available items (if you don’t want a table full of donated goods cluttering the area).

Promote the fundraiser at local events (where there’s already community support) and share event flyers with businesses that allow it (i.e. those that donated).  Advertise as much as possible on social media: Facebook, Google+, Twitter, Evite, blogs, website forums, etc.  Begin advertising at least one month in advance but increase starting 2 weeks prior – extra emphasis in the week before.

At the fundraiser, have a well placed and visible sign that represents 1p36 DSA.  You should include a photo of your child or a digital photo frame with a collection of pictures (we showed a mix of various 1p36ers).  Also have a separate stand alone “donations” or “just because” vessel (vase, bowl, jar) so people can drop cash if they’re in the extra giving mood.  It could be helpful to display a menu of prices (depending on what you have to offer: raffle tickets, wine/beer flights, % contributed, silent auction info, etc)

Using the above mentioned techniques, we raised over $3,200 across three separate fundraisers!  With the first two, we utilized % of sales and raffles to raise money.  For the 3rd, we had raffles and a simple “donations” vase in addition to a more creative way of raising money (compared to just going for a % of sales).  This creative fundraising method was possible via 3 contributed kegs of beer that we received (the fundraiser was at a restaurant/gastro pub).  Since the kegs of beer were completely donated, the restaurant set up a “name your price pints” promo for those beers with a stated minimum.  While $5 was the minimum price, there were people donating $20 per pint; we raised much more money than we would have through a set % of sales!  Additionally, there was still beer left over at the end of the fundraiser, so we held mini follow-up fundraisers to finish off the kegs and raise more money.

Some of the raffle items that were donated and offered in raffle packages included gift cards/certificates to local businesses (restaurant, retail and service/entertainment), gift baskets, wine, beer, chocolate, coffee and merchandise/clothing.  Some of the more popular raffle options were spa packages, an iPod nano and Disneyland tickets, in addition to area-centric packages that included a collection of donations from businesses in a common area/community. 

Hopefully this feedback and shared experience helps steer you in the right direction – it should with the aid of the 1p36 DSA Fundraising Guide.  Go out there, have some fun and create awareness while raising money for the organization!

Jon and Diana Marshall

Thursday
Sep112014

2014 Conference Wrap up - LOVE SUPPORT AWARENESS

Videos of the 2014 conference presentations can be found here.

The 8th Annual 1P36 Deletion Support and Awareness Conference took a playful SPLASH in 2014 at The Great Wolf Lodge Water Park in Cincinnati, Ohio!  This year was full of excitement, laughs, and fun right from the beginning!  Throughout each moment you could feel the love, support and hope. Our 1P36 Family grows each year and this year it really showed. The growth is not just in the number of families reached, but with a growing team of Doctors who showed their dedication to new 1P36 Deletion research at the conference. The future of 1P36 DSA is looking very bright and to represent our new strength, our very own super hero came to join our team…Captain Chromosome!

Our time together began on Thursday afternoon by showing some cheerleaders what team spirit truly looks like!  Everyone happily pitched in to set up our space for the weekend after getting a late start.  We did what we do best, support each other and work gracefully under pressure. GO TEAM 1P36!  Each 1P36er at the Conference was celebrated with personalized beach buckets on each table and the infamously witty Winiecki introduction slideshow.  We let each child know how special and important they are right from the beginning!

Dr. Robert Hopkin and Cassandra Bac from the Genetics Department of Cincinnati Children’s Hospital announced the new research studies that they have organized for 1P36 Deletion.  This was incredibly exciting to be able to participate in new research and help children with 1P36 in the future!  Two departments at Cincinnati Children’s Hospital are doing studies to help further understand how 1P36 Deletion effects individuals.  The Speech Department is looking at what the difficulties are with oral-motor activities

The Heart Institute did Echocardiograms and Electrocardiograms on study participants to look at the heart and 1P36 in greater detail.  The results of both of these studies can help to formulate treatments that can improve the lives of individuals with 1P36.  So many took the time to participate in the studies and help further research for 1P36 Deletion Syndrome.

After an introduction to the conference weekend by Ken Shirtcliff, the 1p36 DSA president, families were able to take the balloons that were tied on their child’s beach buckets and walked outside to the Pavilion.  Each balloon was released to the sky with a heartfelt 1P36 Angel Dedication by Shelby’s Mom, Erin.  We watched with teary smiles as the balloons drifted and danced off into the big blue sky.    

The evening ended with a pizza party, dancing, and some goofy fun in the photo booth.  We even had a surprise guest from the Disney movie, Frozen!  Livvy Stubenrauch, the voice of young Anna signed autographs and took pictures with the children...and some adults got in there as well!  The night truly felt like a family reunion where we had time to catch up with old friends and meet new ones.

Friday began early, gathering for a buffet breakfast to start the day together.  Dr. Daryl Scott from Baylor College of Medicine and Texas Children’s Hospital began the talks.  He gave us a genetic overview of 1P36 Deletion and told us about the fabulous research he and his team are continually working on.  They are working to identify which specific genes cause the different characteristics and medical difficulties for those with a deletion in the 1P36 region. It is difficult and challenging research.

With so many of our kids struggling with seizures we were pleased to have Tom Koprowski from the Cincinnati Epilepsy Foundation to talk about seizures.  He gave a complete overview of the different types of seizures and what parts of the brain are effected as well as what parents and caregivers should look for and how to care for our loved ones who are dealing with seizures.

We had the privilege of having Dr. John Jefferies join us. Dr. Jefferies is the Director of Advanced Heart Failure/Cardiomyopathy at The Heart Institute in Cincinnati Childrens Hospital.  He gave us a look at the different issues many individuals with 1P36 Deletion have with their heart, specifically Cardiomyopathy.  Dr. Jefferies showed real images and video of hearts during an echocardiogram where he was able to compare normal heart function and a heart with various challenges due to structural abnormalities.  He discussed treatments that have shown to be successful and talked about risks as well as hope.

The afternoon learning session ended with presentations by Emily Buckley and Karen Rizzo from The Speech Department at Cincinnati Children’s Hospital. They were able to give us great detail about how to help our children with communication and feeding concerns.  They emphasized all of the things that we can do to maximize potential in not just vocalizing, but tailoring a complete plan for communication success.

The evening ended with the Dads getting some male bonding out in the Pavilion with drinks and appetizers. With the help of Shane MacKendrick doing the childcare, the moms were able to spend time together with drinks and desserts. The time together is never long enough, so some carried their time into the late hours of the night…late, late hours...

Saturday morning came quickly and lots of coffee was needed.  After breakfast we jumped into a question and answer segment with Dr. Scott and Dr. Hopkin from Genetics and Dr. Jefferies from Cardiology.  They all answered many tough questions from parents.  It was a wonderful opportunity to have an open dialogue as we try to help improve the lives of our 1P36 children.

Before lunch we were able to hear from Beth Peloquin, an Early Childhood Special Education Consultant in Vermont. Beth has been a longtime supporter of kids with 1p36 Deletion Syndrome as well as all those with disabilities. She has attended other 1p36 DSA conference as a friend of Carrie Daggett and her daughter Kate. Beth helped us learn about how to most successfully navigate through the IEP Process.   

The last of the educational sessions began with Aaron Clow, President and Founder of Beds by George sharing with us how to best keep our children safe as they sleep.  Aaron’s daughter has 1P36 Deletion Syndrome and she was his inspiration to design and build beds to keep children safe as they grow.  Aaron’s entire family joined us at the Conference for their first time.

Our last speaker was Tim Vogt from Starfire Foundation in Cincinnati.  Tim focused on helping us to build lifelong networks of support.  Tim asked us to think about community and how to build full lives for our children and our families in creative and meaningful ways.

We wrapped up the Conference by drawing names to give away some really neat items.  Everyone was eager to be the family that got to take Captain Chromosome home with them! He was clearly the life of the party all throughout the conference!  The 2015 Conference was announced with a fun video…Mickey Mouse gave it away immediately!  And then we were sent on our way to enjoy the water park together!  The Great Wolf Lodge was full of 1P36 families everywhere you turned and it was such a warm feeling.  Late into the night the Sequoia Ballroom was full of our laughter…

Sunday morning came and as we took pictures and gave hugs the buzz was all about getting ready to be together again next year.  The excitement of the countdown begins all over again…

 

Saturday
Jul192014

2015 Conference Preview

1p36 Deletion Support & Awareness is excited to announce the dates and location of the 2015 1p36 DSA Conference. The conference will be Thursday July 23rd through July 25th and will be hosted at The Wyndham Grand Orlando Resort Bonnet Creek in Orlando, FL. www.wyndhamgrandorlando.com

The Wyndham Grand Orlando Resort Bonnet Creek is an upscale lakeside hotel surrounded by stunning woodlands and the alluring style of sun-kissed Orlando 20 minutes from the Orlando International airport. The Mediterranean-inspired hotel has Lagoon-style swimming pools with pool side cabanas, fire-pits, a pirate ship kiddie pool, lazy river, playgrounds, jogging trail, outdoor hot tubs, a game room and much more!  The hotel also offers three restaurants, two lounges and 24-hour room service.

We have secured a room rate of $139.00 per night plus tax for the conference. This includes access to the amenities already listed as-well-as high-speed internet access in guest rooms, use of the state-of-the-art fitness center and a complimentary shuttle to the Disney Parks and attractions. If you want to extend your stay, this rate is available for 3 days before and 3 days after the conference. You can call 407-390-2300 and mention the 1p36 Deletion conference or click here to make a reservation online. If you are making a reservation online and try to add nights outside of the Pre/post nights or if they have limited availability in pre/post nights it will show as unavailable. If this occurs please call the number above and they can assist you further.

If you did not already know, there is a lot to do in Orlando. The hotel is less than 5 miles from the Walt Disney theme parks including Magic Kingdom, Epcot, Disney’s Hollywood Studios and Animal Kingdom. Nearby, enjoy the shops, nightlife and entertainment thrills at Downtown Disney or Universal’s City Walk. To learn more about Orlando local attractions, visit the Visit Orlando website @ www.visitorlando.com/things-to-do/

As we get closer to the conference, more information will be provided on meals, activities, events and speakers.  Registration for the conference will be available in early 2015. We are very excited about the 9th 1p36 DSA conference. We know it will be a magical event!

Wednesday
Jul022014

2014 Conference Agenda Announced

After a lot of hard work by Tamara Lee and Melissa MacKendrick, the 2014 1p36 Deletion Support & Awareness conference agenda is finalized. You can view it by clicking here. The conference is only two weeks away and we are all so excited to host the over 65 families that will be attending (by the way that equates to over 300 people). It is sure to be a weekend of meeting new friends and family and learning  about 1p36 Deletion Syndrome and how we can all help our 1p kids to be all they can be.

This year will be larger than last

Monday
Jun022014

Research Opportunity at 1p36 DSA conference

The attendees of the 1p36 DSA Annual conference have a wonderful opportunity to help with research involving 1p36 Deletion Syndrome. Genetic Counseling student Cassandra Bac in coordination with Dr. Robert Hopkin and Cinicannati Children's Hospital Division of Human Genetics, Heart Institute and the Division of Speech-Language Pathology are conducting a study about the speech and Heart function of people with 1p36 Deletion Syndrome during the annual conference in Mason, OH July 17-20, 2014.

Complete information about the study can be found by downloading the study information sheet at here You may also contact Cassie Bac at cassandra.bac@cchmc.org, If you are interested in participating in the study please contact Cassie at the above email.

1p36 DSA does not specifically endorse any specific research project but we do encourage families to look over this research opportunity to see if it is something they would like to participate in. The more our 1p36 community is involved in and supportive of research, the more the medical community can learn about 1p36 Deletion syndrome.