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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

Friday
Nov222013

2014 Calendars now on sale and help 1p36 DSA while you shop

Did you know that there are many ways that you can earn money for 1p36 Deletion Support & Awareness while you are doing your Christmas shopping online this year.

The new 1p36 DSA merchandise store is now open and the 2014 1p36 Deletion Support & Awareness Calendars are hot off the press. We also have hats, magnets, bows, wristbands and more. All profits from these items go directly to 1p36 DSA.

By creating an account with iGive.com, you can shop at the stores you know and love - over 1300!. A percentage of what you spend is donated to 1p36 DSA (on average 3%). The stores pay for it all. You never pay more, and sometimes pay less with coupons and deals. The optional iGive Button is a simple web browser app, easy to install and uninstall. It automatically kicks in at participating stores. Don't want the app? Just start your shopping trips by going to iGive.com. Shop normally (no special codes, no special anything) at any of over 1300 stores. The Button works in the background to let them know you're helping when you shop.

You can also earn money for 1p36 DSA by shopping at smile.amazon.com. AmazonSmile is a simple and automatic way for you to support 1p36 DSA every time you shop, at no cost to you. When you shop at smile.amazon.com, you’ll find the exact same low prices, vast selection and convenient shopping experience as Amazon.com, with the added bonus that Amazon will donate a portion of the purchase price to 1p36 DSA.

Monday
Nov112013

Caregiver Quality of Life Survey

In an effort to understand the needs and challenges that parents and caregivers face in raising a child/family member with 1p36 Deletion Syndrome, we are conducting our first ever Caregiver Quality of Life Survey.  The information you provide in this survey will help 1p36 Deletion Support & Awareness better serve our community by identifying needs, determining resources, and providing support. Your responses to these questions will be anonymous and will be combined with other members of our community.  The topics we will cover include:  Basic demographics, Childcare, Self-care, Support, Planning for the Future, Family Relations, Social Life, Work life, Psychological Well Being, and Sharing Resources. It should take between 10-15 minutes to complete this survey.  The survey will only remain open until December 8th, so please take the time now to complete it.  We really value your opinion and experiences.

We are asking all parents and primary caregivers of a person with 1p36 Deletion Syndrome to fill out this survey. We encourage both moms and dads to participate as each person can share a different perspective on how raising a child with 1p36 Deletion Syndrome affects them. To complete the survey, please go to www.surveygizmo.com/s3/1338577/1P36-Family-Quality-of-Life-Survey Please feel free to forward this link to any other 1p36 caregivers who may not know about the survey. 

If you have any question or concerns about the survey please contact board member Tod Oliver at t.oliver@1p36dsa.org.

 

Monday
Oct212013

2014 Conference Preview

We are so excited to announce the dates and location of the 2014 1p36 Deletion Support & Awareness Conference and it is destined to be an unforgettable experience. The conference will be July 17th through July 20th and will be hosted at The Great Wolf Lodge in Cincinnati/Mason, Ohio.

The Great Wolf Lodge is a Northwoods-themed resort packed with fun for everyone. It features a 79,000 square foot indoor waterpark where you can experience the thrills of their 15 waterslides or relax on an inner-tube in the lazy river. The outdoor pool has zero depth entry, sprinklers and plenty of shaded room under the umbrellas to relax and visit. Take a look at www.greatwolf.com/mason/waterpark to see and read more about the fun.

When you want to have some dry fun, there is an arcade, bowling alley, putt-putt golf, a spa for the kids, a spa for the adults and so much more. Check it all out at www.greatwolf.com/mason/explore/family.

Your Conference registration will include Breakfast on Friday and Saturday as well as lunch Friday and Saturday, but there are also many dining options within the lodge. There are two restaurants, a pizza place, a snack shop, ice-cream and bakery, Grizzly Rob’s Bar and a Starbucks. You can find the delicious details at www.greatwolf.com/mason/amenities/. There are many restaurants near the hotel as well.

After a fun filled day of informative and inspiring speakers, bonding with other families, good food and adventurous water fun, you can end the day with story-time by the fire and fireworks in the sky. What else could we possibly need? 

We have secured an amazing family suite rate of $129 a night plus tax and that includes full use of the water park. These rooms sleep up to six adults with two queen beds and a pull out queen- sized couch.  We also have King suites available for the same price, which sleeps four adults with a pullout couch.  All rooms include flat screen TVs, coffee maker, wet bar, mini fridge, microwave and four waterpark passes.  You can purchase extra waterpark passes for $40 and are good for your entire stay.  The room rates are available from July 14th through July 23rd so you can extend your stay and make a full family vacation out of it! This is such a great deal!

We are so excited to share Cincinnati with all of you! There is so much more to experience outside of Great Wolf Lodge. There is a walking path that leads to Kings Island Amusement Park next door to Great Wolf Lodge if you want some more adventure. Closer to downtown Cincinnati you can visit the Cincinnati Zoo, The Freedom Center, Newport Aquarium, The Cincinnati Museum Center, The Horseshoe Casino or go for a ride on the B&B Riverboat. Take a look at www.Cincinnatiusa.com to explore all the reasons to extend your stay in Cincinnati!

More information will be available in early 2014 including registration fees, speakers and conference agenda. We are having a blast planning some exciting things for everyone!  Most of all we are looking forward to our 1p36 Family being together!!!

Tamara Lee & Melissa MacKendrick

2014 Conference Co-hosts

Friday
Sep062013

The 2013 1p36 DSA Conference was a Resounding Success

I think everyone who attended the 2013 1p36 Deletion Support & Awareness conference would say the same thing...it was amazing!

This year’s hosts, Sherry and Beau Culvahouse and the 1p36 DSA volunteers involved, spent a lot of time planning and organizing a truly meaningful, informative and memorable experience for the 1p36 families who attended. 

Did you miss it this year?  Well, thanks to Ken Shirtcliff, who was our AV person and happens to be the 1p36 board president, you can find most of the speaker’s presentations on the 1p36 DSA website along with their PowerPoint presentations at this link:  http://www.1p36dsa.org/2013-conference-videos

Before launching into a summary of the conference presentations, speakers and goings on, I want to say how thankful we are to everyone who made this event possible.  A very big thank you to our gracious hosts Sherry & Beau Culvahouse.  Anyone who has hosted a conference will testify to how much work is involved and Sherry did a stellar job this year organizing this one.

Ken Shirtcliff from 1p36 DSA also spent many hours facilitating and organizing the details of the conference and I don’t know where we would be without him.  We also had some great sponsors this year, HEB Grocery Company, Therapeutic Resources, Greenwood Dental Care and the Ashlyn Horry Foundation.  Thank you to these wonderful business and organizations for your support!  Big thanks to all the volunteers who helped with childcare, set up and clean up. We are so grateful for your valuable time and energy.  Thank you to the facilities and their employees who accommodated our needs so well, Morgan’s Wonderland and the Drury Plaza Hotel Riverwalk.  Also, we extend our thanks to all the speakers who came to lend their time and expertise to our families.

The conference kicked off on Thursday afternoon at Morgan’s Wonderland, which is an inclusive theme park near San Antonio, Texas that caters to those with special needs.  1p36 families enjoyed the park and then gathered in a large event hall the size of a gymnasium.  It was incredible to see that many 1p36 families in one place, gathered for one main purpose, to connect and learn.  The conference hosts, Sherry and Beau Culvahouse, along with their two beautiful girls, Allison and Kaylee (1p36), welcomed everyone to the conference. We also go a great Texas welcome from Callie Hoots who lives in Texas and has 1p36 Deletion Syndrome.

We were thrilled this year to have our key note speech given by Rupert Isaacson, journalist, writer, horse expert and an amazing advocate and father of a child with autism.  Rupert sought help for his son in a very non-traditional way, a quest through Mongolia on horseback.  He documented the journey he took with his wife, Kristin Neff, and son Rowan, in a book.  It was also recorded in a beautiful documentary, The Horse Boy.  You can purchase the movie on DVD and it has also aired on many PBS stations and is currently available via streaming on Netflix.   Rupert gave an inspirational and insightful talk on the struggles and joys of parenting a special needs child, reminding us to embrace what is good in our lives and to celebrate the individuality of our children and of ourselves.  Caring for yourself is as important as caring for your child he told us.  By trying to live a full and joyful life, you will be a better parent and caregiver to the special needs person who depends on you.  Not that it is always easy, as Rupert pointed out with humor.  He described once buying a round of drinks for everyone in their section on an airplane as consolation for the trantruming his son would certainly be doing on the flight.

After the keynote speech, there was a beautiful candle light memorial honoring those with 1p36 Deletion Syndrome who have passed.  The beautiful voice of Diane Green accompanied a slide show of 1p36 Angels.

A favorite part of the conference is always the family introductions when we get to learn a little about all the families attending that year and Scott and Jennifer Winiecki organized a great slide show highlighting the past year’s accomplishments of each individual child with 1p36 who attended.  Scott even went the extra step and injected some information about each family’s home state into the slideshow.  (Many of us didn’t know that Texas had two official state mammals …one big and one small.  Thanks for the info Scott!) 

Afterward, Rupert Isaacson took the stage again to talk to us about the Horse Boy Method.  The Horse Boy Method is a concept that grew out his experience with his autistic son Rowan.  It is a child-driven model involving kinetic learning and sensory integration.  You can watch Rupert’s talk on the 1p36 DSA website and learn more about the Horse Boy Method at the Horse Boy World website.  Rupert and his team brought two of their horses for the families to meet after his talk.  The children were able to pet the horses and parents asked the team questions.  It was truly magical to have them there.

A fabulous pizza party (with A LOT of pizza) and family dance followed which was great fun.  We had live music from Mo Del’s Band and lots of parents and kids got up to show their stuff.

First up Friday morning we heard from Vagdevi Meunier, PsyD about managing relationships through the challenging times of raising a child with special needs.  Weathering challenges and grief can be tough on relationships and this talk focused on how “resiliency can be achieved and what it takes to preserver hope, joy and faith through hard times.”  As with most of the presentations, a recording of this talk is available here.

Nancy Schwartz and Claire Heins from TEAMAbility presented information on the concept of Active Learning.  TEAM Ability is a nonprofit that works with children with multiple disabilities in San Antonio, TX.  Nancy and Claire spoke about TeamAbility’s guiding philosophy which comes from Danish teacher and psychologist, Lilli Nielson, who worked with disabled children and developed the concept of Active Learning.   Active Learning focuses on children who have multiple disabilities, especially children who are limited in their ability to move and explore their world via all the senses such as sight and hearing.  Nancy and Claire talked about the guidelines of Active Learning how to create an environment to facilitate the concept with your own child.

Families were able to stay right in the conference room for boxed lunches and refreshments which offers a time for socializing with each other and enjoying some relaxing time without having to worry about finding lunch and getting everyone in the family fed.  It’s these times of milling around and chatting that I really love.  It’s a time to get caught up with each other and talk to the new families that are attending for the first time. 

After lunch was a presentation on raising a healthy family chemical free from Barry Smeltzer. He gave information and ideas on how to eat cleaner and eliminate the chemicals that surround us.

Then Dawn Thurmond, The Laughing Lady, gave everyone the giggles by showing how laughter can help counteract the stress in our lives.  Now, I wasn’t in the room for this presentation but I’ve seen a couple videos from some of the parents and it looked like a hoot.  We can all use laughter in our lives and studies show that laughter does reduce stress and might even help improve your immune system and relieve pain.  Good to know!

A Dads afternoon and a Mom’s evening out meant a riverboat cruise on San Antonio’s famous Riverwalk.  Having time to relax and socialize with each other was wonderful.  The moms I think had the better deal because some got to stay up a wee bit past bedtime! Childcare was available for the children and was staffed by some very wonderful volunteers who we are very grateful to.

Saturday was just as busy as the days before.  Daryl Scott, MD, Ph.D., Assistant Professor of Molecular and Human Genetics at Baylor College of Medicine, gave a very informative talk about 1p36 Deletion Syndrome.  Dr. Scott explained in lay person terms what 1p36 Deletion Syndrome is exactly, the differences between terminal and interstitial deletions and how microarray testing has changed how 1p36 Deletion Syndrome is identified.  He also talked at length about research on the syndrome such as identifying what genes in the deleted region of 1p36 might cause the specific symptoms of the syndrome.  If you can only watch one video from the conference, I would recommend this one.  Dr. Scott has a wonderful way of explaining the complexities of 1p36 Deletion Syndrome and genetic research.  His talk answers common questions about the syndrome and what it means for our children in a way that is both thorough and easy to understand.

Once again we were able to hear from one of our favorite people with 1p36 Deletion Syndrome.  But before Callie Hoots could give her speech, Ken Shirtcliff had a special announcement.  Callie had been elected by the 1p36 DSA board to be the organization’s very first 1p36 Deletion Support & Awareness Ambassador.  Callie and her mom Cyndi, have always been advocates for people with 1p36 Deletion Syndrome and all those with special needs.  This year was the third year Callie has been asked to speak to conference attendees and each time she gets a standing ovation.  We are very lucky to have such a wonderful young woman as our Ambassador.  Her speech is also on the conference video page for everyone to enjoy.

We were very honored to have Keva D. Horry, author of Glamourous Sacrifice, Life...in the Shadow of Championships, come speak at the conference this year and autograph her book for attendees.  Keva’s daughter, Ashlyn, was born with 1p36 Deletion Syndrome and sadly passed away on June 14th, 2011.   Keva’s book tells the story of her journey as Ashlyn’s mother while also being in the spotlight as wife to NBA Basketball Player, Robert Horry.  Keva and Robert founded the Ashlyn Horry Foundation, a nonprofit based in Houston, TX that supports disabled youth.  Keva spoke about Ashlyn and both the challenges and joys she experienced as mother to this special girl.  She also read an excerpt from her book that eloquently described the moment she received Ashlyn’s diagnosis.  1p36 parents will easily relate to the emotions she describes.  Robert Horry and their son Cameron also attended and Robert and Keva spoke to families and posed for pictures afterward.  We could not ask for a more gracious family to help advocate for our 1p36 families.

We then heard from Ashley Brazil, Genetic Counselor at Cincinnati Children’s Hospital who has recently completed her master’s thesis, “Delineation of 1p36 Deletion Syndrome in Adolescents and Adults”.  This was Ashley’s second time attending our conference and we are so grateful for her continued interest in helping bring greater understanding of 1p36 Deletion Syndrome.  Ashley talked about how her thesis was actually driven by questions from parents about what to expect for our children as they grow older.  She talked about how there isn’t very much research on how 1p36 children do as they progress and get older.  Ashley summarized the research in her talk and you can watch her presentation and see the slides on the 1p36 DSA website.

After lunch there was an excellent session of Q & A between attending medical professionals, researchers, therapists and parents.  This was a very productive and informative part of the conference that is enhanced by the interactive element of having parents ask questions of a panel of experts and many parents even able to help answer each other’s questions.

Our last speaker of the day was Robin Blue, a board certified behavior analyst and music therapist.  She spoke in two separate sessions; the first was an overview of ABA (Applied Behavior Analysis) and the second was an overview of Music Therapy and how to effectively use music strategies with your child.  Her presentation is also available on the 1p36 DSA website.

Before ending the conference, Sherry organized a ceremony recognizing all the siblings of the 1p36 children at the conference.  Each sibling got a certificate and 1p36 DSA wristband.  It was great to see these kids, who play a big role in their special siblings’ lives, get kudos for being so fabulous.  And it was fun to watch the media-like frenzy of parents with their cameras!  And then came the group picture of EVERYONE, which was a feat in itself.  I’m not sure how we made it happen but it always seems to work out, even with the record attendance we had this year.  Big thanks to Sydney Morgan, our official conference photographer for her organizing, talent and humor!

Families were able to spend one last evening together enjoying the San Antonio children’s museum all to themselves. The museum was rented out by 1p36 DSA and it was huge fun for kids and parents alike.

So that’s a wrap.  I don’t feel this play by play summary captures the experience and emotion that happens at a 1p36 Deletion Support & Awareness Conference.   The recorded presentations can give you much of the information that was provided at the conference, but it doesn’t take the place of actually being there, surrounded by other families who are on a similar road as you.  People often say it’s like a big family reunion with a bunch of people you have never met.  And once you connect, the bonds of friendship and camaraderie stay with you, hopefully fortifying you to continue this special journey the rest of the year until the next conference.  Every year the conference grows and we hope that more families will be able to attend in the future.

Thank you to all the families that came.  It was so amazing to meet new people and see old friends.  Thank you again to everyone who made it possible.  I don’t think I’m alone in saying…I can’t wait for next year!

Carrie Daggett (Kate’s mom)

 

Friday
Sep062013

How to explain 1p36 Deletion Syndrome to a 3rd Grader

If you were asked how you would describe 1p36 Deletion Syndrome to a 3rd grader, what would you say? This was a question that came up recently on the 1p36 Facebook Family Support page and Christina F. who is the mom to Mollie put best. She explained it like this:

Photo Courtesy of Sidney Morgan PhotographyMollie has a 10 year old sister and the way I explained it to her was that we all have something called DNA. DNA is sort of an instruction manual that tells our body what to do. It tells our heart to be a heart, our ears to hear, our eyes to see etc. But Mollie is missing a few pages from her instruction manual so her body does not always know what to do because it is missing the instructions. I Told her that even if she was missing the directions (instruction manual) for a toy, that didn't mean the toy was worth less. It just means it could take you longer to figure out how to use it and some things you may never figure out without the instructions. The toy would still be a fun toy and just as special as the other toys... it was just missing a few pages from the directions.

So next time you happen to be asked by a young child (or even an adult) about 1p36 Deletion Syndrome you might think about Christina's example. The more our society can understand 1p36 Deletion Syndrome the easier it is to accept and embrace 1p36 Deletion Syndrome and all special needs.