Rubinstein-Taybi Syndrome (RTS) Newsletter Spring 2012
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1 INSIDE RTS Growth Charts Reasons to Smile: Jason’s Story Leadership Training for Family Advocates NEW RTS Website Regarding the Syndrome: iDevice Considerations RTS Reunions 2012 Resources to Share – NEW Spanish listserv RTS News is published by The Division of Developmental & Behavioral Pediatrics at Cincinnati Children’s Hospital Medical Center. Special thanks to the Dr. Jack Rubinstein Foundation for its continued support! RTS Growth Charts - Take the Survey! By Cristina Fonseca, Parent (Left: Chadd, Alexia & Cristina) Most hospital and primary care centers around the world have growth charts for children, which use data from "typical" children, and are not representative of the RTS population. Around 1990, RTS growth data was collected in order to create charts specific to RTS. Since there is an increased knowledge of RTS, and many more cases have been more properly diagnosed around the world, Raoul Hennekam, MD, PhD plans to update these curves with data from as many children as possible. In order to have meaningful results, at least 100 sets of data are needed per gender per race. So, we need responses from as many families as possible, in order to update these charts. With this in mind, a survey has been created, where families can simply enter their information, which will be collected by Dr. Hennekam's research team and new updated growth curve charts will be produced. The timeline for this depends on when we have enough information from all the families, so we need your collaboration for this! Some of the survey questions are being asked to ensure that the necessary data is being captured. For instance, there is a question about parents' height and ethnic background, as it is known that these characteristics have an influence on a child's height. The timing of the onset of puberty also makes a difference in the growth of children, so you will also find some questions in this area. Please take a few minutes to complete the survey. This will help all of us have an updated set of growth data, including height, weight and head circumference measurements. If you have any questions, please feel free to email Cristina at [email protected] . To complete the survey in English, please go to: https://www.surveymonkey.com/s/RTSsurvey1inEnglish or, to complete the survey in Spanish: https://www.surveymonkey.com/s/RTSsurvey1inSpanish . We will make all growth curves available to all support groups worldwide for free! We look forward to receiving as many surveys as possible! Thank you in advance! • • •
Transcript of Rubinstein-Taybi Syndrome (RTS) Newsletter Spring 2012
1
INSIDE
RTS Growth Charts Reasons to Smile: Jason’s Story
Leadership Training for Family Advocates
NEW RTS Website
Regarding the Syndrome: iDevice Considerations
RTS Reunions 2012
Resources to Share – NEW Spanish listserv
RTS News is published by
The Division of Developmental & Behavioral Pediatrics at
Cincinnati Children’s Hospital Medical Center.
Special thanks to the
Dr. Jack Rubinstein Foundation for its continued support!
RTS Growth Charts - Take the Survey! By Cristina Fonseca, Parent (Left: Chadd, Alexia & Cristina) Most hospital and primary care centers around the world have growth charts for children, which use data from "typical" children, and are not representative of the RTS population. Around 1990, RTS growth data was collected in order to create charts specific to RTS. Since there is an increased knowledge of RTS, and many more cases have been more properly diagnosed around the world, Raoul Hennekam, MD, PhD plans to update these curves with data from as many children as possible. In order to have meaningful results, at least 100 sets of data are needed per gender per race. So, we need responses from as many families as possible, in order to update these charts. With this in mind, a survey has been created, where families can simply enter their information, which will be collected by Dr. Hennekam's research team and new updated growth curve charts will be produced. The timeline for this depends on when we have enough information from all the families, so we need your collaboration for this! Some of the survey questions are being asked to ensure that the necessary data is being captured. For instance, there is a question about parents' height and ethnic background, as it is known that these characteristics have an influence on a child's height. The timing of the onset of puberty also makes a difference in the growth of children, so you will also find some questions in this area. Please take a few minutes to complete the survey. This will help all of us have an updated set of growth data, including height, weight and head circumference measurements. If you have any questions, please feel free to email Cristina at [email protected] . To complete the survey in English, please go to: https://www.surveymonkey.com/s/RTSsurvey1inEnglish or, to complete the survey in Spanish: https://www.surveymonkey.com/s/RTSsurvey1inSpanish .
We will make all growth curves available to all support groups worldwide for free!
We look forward to receiving as many surveys as possible! Thank you in advance!
• • •
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Reasons to Smile Being the Best Jason By Karen Walczak, Parent
I was in the middle of the morning routine one recent morning and Jason was dribbling his soccer ball around the house. He stops and says “It is so awesome!” First off, I was amused that he knew the word “awesome” – he learned it from his older brother, Seth – but it also made me think back to when he was an infant and we didn’t know if he would ever walk or talk. He is now an active, vocal, lovable 6-year old that amazes us each and every day.
Our journey started when Jason was only five days old. He didn’t have any major medical issues but had enough noticeable minor issues that our pediatrician referred us to a geneticist. It was then my husband and I learned about RTS but were not given an official diagnosis. Shortly thereafter we moved from Ohio to Indiana, where Jason started therapy at five months. During that time he had two minor surgeries and was seen by a few specialists for his reflux and hypertonia (tight muscles – very unusual for RTS). Being a tiny little thing, he earned the nickname ‘Peanut’ by one of his doctors…and the name naturally stuck.
Without the major medical and feeding issues to deal with, we focused on his development. We felt we were looking into a black hole – no one could tell us what the future would be like for Jason, whether he would walk, talk, or eventually graduate from school. With no crystal ball to gaze into, we simply decided that we would do everything we could for Jason to be the best “Jason” he could be – one day at a time.
After moving back to Ohio he started at a special needs preschool. He was soon walking independently and saying a few basic sounds. We kept going to a number of specialists and started a regimen of one-on-one therapies when he turned 3. He has always been eager to learn, works hard and, of course, he has that wonderful, loving RTS personality. He eventually began attending the local public school system preschool which had classes with special needs kids and peer models. He was learning all of the typical things – colors, numbers, letters – and everyone loved him and wanted to help him out. During the summer when he was 4 ½ years old, his verbal communication took off and he blossomed from a quiet, shy boy to a fun-loving, talkative boy. His previous preschool
fun-loving, talkative boy. His previous preschool teachers would stop him in the hall just to hear him speak – they were so amazed by the transformation.
Jason has always loved to kick a ball so we put him in a local soccer league geared especially for children with disabilities. It took a while for him to adjust to the large group setting but once he did he was running and kicking along with everyone else. He has so much fun that we ourselves can’t help but have fun watching him with the other players.
This fall he started Kindergarten and while this transition again spelled uncertainty for us, we soon found he had adapted well. Again, the teachers know him and love him…and we were told by his homeroom teacher how his fellow classmates help him and treat him with kindness that only children can. He has fit right into the routine, and he can brighten anyone’s day with his “million-dollar smile”, as his teacher says. We continue to be amazed by what he can learn and do, and we are ever aware of the love and support his community of caregivers has offered. He is now starting to read, something we had hoped he might one day do but certainly didn’t expect it to happen in Kindergarten. We know it will take longer and more effort for Jason to learn things compared to other children his age, and therefore we are thrilled by each tiny milestone and accomplishment. We are not focusing on the big picture but instead enjoying each treasure. Over Christmas break Jason learned to play his first song on piano. He excels at putting puzzles together. He just loves life – to run and twirl and sing and wrestle with his dad and Seth. There is nothing better in this world than when he comes up to me out of the blue, puts his arms around me, and says “I love you”.
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The future is still a great unknown. But we have hope that with the help of his teachers, therapists, grandparents, family, and many friends, Jason will continue to learn and to grow. When we ask him if he’s a good Peanut, he’ll smile and say “No -- I’m the BEST Peanut”! And we also know he’ll become the best “Jason” he can be.
Above: Jason having blocks-o-fun Right: Jason & his loving brother, Seth, off to school.
Below: Rob, Karen, Jason, & Seth tie-dyed out
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Are you the family member of a child or adult with a disability? Would you like to take your advocacy skills to the next level?
Then consider applying to the: Leadership Education in Neurodevelopmental and related Disabilities (LEND) Training Program University of Cincinnati University Center for Excellence in Developmental Disabilities (UC UCEDD)
Division of Developmental and Behavioral Pediatrics Cincinnati Children's Hospital Medical Center
The LEND Training Program at Cincinnati Children's Hospital Medical Center provides family members the opportunity to develop their leadership and advocacy skills as part of an intensive training program that also includes trainees who are graduate students from a variety of health and education disciplines. Family member trainees complete the same rigorous requirements as other LEND trainees by participating in lectures, discussion groups, team presentations, team and individual projects, and state-level and national level policy and advocacy opportunities. To qualify for the family traineeship, the applicant must be a family member of a child or adult with a developmental disability, have demonstrated interest in leadership and advocacy, and have a desire to advocate for people with disabilities and their families. LEND trainees receive a stipend and must be able to dedicate 16 hours per week (on average) to the program for nine months (late August to late April).
APPLICATION DEADLINE FOR THE 2012-2013 ACADEMIC YEAR: APRIL 13, 2012
Learn more about the LEND training program at: http://www.cincinnatichildrens.org/lend or contact Sheryl Feuer at (513) 803-3364 or [email protected]
Leadership Training for Family Advocates
New RTS Program Website Starring… Sophie!
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Regarding the Syndrome Considerations for iDevices as Speech Generating Devices By Augmentative Communication Speech Language Pathology Specialty Team
If your family is considering an iDevice for communication, the following factors are important to review with your child’s speech-language pathologist: Choosing a Language System The language your child has available is important!
iDevices and traditional SGDs offer different language apps for different people (based on age, language abilities, physical abilities, and more) A speech-language pathologist specializing in augmentative communication can help decide which language system your child needs Not all language systems are available as an app Not all language apps are developed by professionals or based on research
Social Considerations Using an iDevice to communicate in the real world
Many people are already familiar with iDevices and find them user friendly Some children feel more comfortable carrying a device that is widely used by their peers Parents and teachers are likely to feel comfortable programming and helping a child use an iDevice iDevices are in high demand, so theft is a greater concern
Access and Accessories How will your child use their device?
Vision, attention, and physical skills are important to consider for successful use of any communication device Due to the sensitive screen and scrolling feature, not all children are able to use an iDevice, or may need adaptations Modified access methods (keyguards and switch access) for iDevices are limited at this time Many modified access methods are available on traditional communication devices, including … - touchscreens - keyguards - alternative mouse controls - eye gaze- switch access - and more The setup, screen size, number of buttons, and button size on an app will impact a child’s efficiency, targeting, and accuracy Appropriate positioning of an iDevice (at a table, on a wheelchair, or when on the go) may require carrying cases, stands, or mounts
Portability and Durability Communication devices need to be portable and durable for everyday use!
iDevices are small and lightweight iDevices are easy to set up and use in a variety of places Cases and accessories may be necessary to increase durability External speakers may be required in noisy environments Accessories might add additional weight and impact portability Lots of children carry portable electronic devices (eReader, video game, smart phone, etc.)
Access and Accessories
Cincinnati Children’s Hospital Medical Center
iDevices are being recognized as a new option in speech generating devices (SGDs).
It is important to keep in mind that iDevices are one of many possibilities for people who use augmentative and alternative communication (AAC).
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Programming Support and Repairs How will a broken device be fixed?
Apple is responsible for iDevice repairs and support only, not for support on specific apps Tech support varies greatly from app to app Traditional SGD manufacturers routinely provide support and service for both the device and the language system Insurance will not pay for repair of an iDevice Insurance will generally cover necessary repairs of a traditional SGD Manufacturers of traditional SGDs generally provide: - online knowledge base - phone-in/e-mail tech support - web trainings - regional workshops - local representatives - availability of loaner devices
Cost and Funding Insurance vs. out-of-pocket vs. funding sources
Generally, insurance and Medicaid do not fund the purchase of iDevices, but will fund most traditional SGDs when medically necessary iDevices need to be purchased out-of-pocket or using alternative funding sources iDevices and their accessories are significantly less expensive than some high tech speech generating devices iDevices are generally more expensive than other beginning communication options Keyguards, speakers, carrying cases and apps are an additional cost (range from free-hundreds of dollars) Consultation with a speech language pathologist who specializes in AAC is necessary before the purchase of any communication app or accessory
Other Applications Availability of games, books, internet, and more
iDevices offer a variety of apps, such as interactive games, educational tools, and books Educational apps can benefit your child’s learning Leisure apps can distract your child from communicating appropriately Access restrictions are limited on iDevices (ex. certain apps may not be permitted at school, but can’t be “locked” from use) Traditional communication devices have some educational/leisure features and are more easily restricted
Tips to remember Not all people can use every communication device. During an evaluation, a speech-language pathologist and occupational therapist with training in AAC will be able to help your family find the best communication device. A comprehensive evaluation should be completed prior to purchase or use of an iDevice for communication.
For more information, contact: Speech Pathology Department
Cincinnati Children’s Hospital Medical Center 513-636-4641
Some Application resources (Apps) for iDevices (Provided by Sandra M. Grether, Ph.D., Division of Developmental and Behavioral Pediatrics, Cincinnati Children’s Hospital Medical Center, University of Cincinnati)
Spectronics Inclusive Learning Technologies Scribd Apps4stages SpedApps2: Applications of Applications for Special Populations Apps for Children with Special Needs
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2012 Midwest RTS Reunion – March 3, 2012 Weekend An unstructured weekend of connection and water park fun for families touched by RTS. We will have a meeting room available to us all weekend and will gather for a pizza dinner on Saturday evening. Choose whether you stay Friday & Saturday night or just Saturday night. The Polynesian water park resort in Wisconsin Dells, WI, Make reservations at 1-800-272-5642 http://www.dellspolynesian.com/ Please make your reservations directly with the Polynesian and mention the RTS Reunion to get the group rate. Contact: Terri Hart-Ellis at [email protected] with questions & upon making your reservation. You will be added to the reunion email distribution list to receive important details as the date nears. Specific counts for the number of adults and children attending will be taken at that time.
Save the Dates! 2012 RTS Reunions & Gatherings…
Northeast RTS Family Reunion Date: April 13, 2012 Weekend Location:Hilton Garden Inn, White Marsh, 5015 Campbell Boulevard, Baltimore, MD 21236 Reservations: Telephone: 410.427.0600, Group Code: RTS, Group ID: # 306133 Contact: Brenda Bon Levine at [email protected] or 443.829.4507 OR
Amanda Novinski at [email protected] or 302.897.4858
THE GREAT AUSTRALIAN RTS GET TOGETHER 2012! Date: July 6, 7, 8th, 2012 Weekend Location:Darlington Beach Resort Coffs Harbour NSW. Reservations: 1-800-888-999 and use booking #118482 Contact: [email protected] Join this fun family event spending time together, doing your own thing, and a few surprises in between! For more information, please visit: www.rubinstein-taybi.org.au
RTS-OKI Meeting: Saturday, March 10, 2012 …of the Rubinstein-Tabyi Syndrome Family Support Group for Ohio,
Kentucky and Indiana (& nearby areas): TIME: 11:30 am - 2:00 pm
LOCATION: 3430 Burnet Ave. Cincinnati, OH 45229, 5th Floor RSVP: Amy Clawson, [email protected] or 513-636-4723
(Pizza & childcare provided with RSVP) Everyone is welcome!
RTS-OKI Reunion Date: June 15, 16, 17, 2012 Weekend Location: Cincinnati/NKY area Contact: [email protected] or
513-636-4723Stay tuned for more details!
We hope you can join us!
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Michelle Farrell, Director of Family Services Special Friends Foundation P.O. Box 313 Windham, NH 03087 Toll Free: 866-316-9029 Email: [email protected] Website: www.specialfriends.org 2003 RTS Conference Proceedings Website (aka “The Brown Book”) www.rubinstein-taybisyndrome.info Rubinstein-Taybi Syndrome: A Book for Families, 2007 (aka “the Blue Booklet”) Cathy A. Stevens, MD Dept. of Pediatrics, T. C. Thompson Children's Hospital 910 Blackford St. Chattanooga, TN 37403 (423) 778-6112 or [email protected] National Organization for Rare Disorders, Inc. (NORD) 55 Kenosia Avenue P.O. Box 1968 Danbury, CT 06813-1968 Website: www.rarediseases.org The Arc For People with Intellectual & Developmental Disabilities 1660 L Street, NW, Suite 301 Washington, DC 20036 (800) 433-5255 Website: www.thearc.org Administration on Developmental Disabilities (ADD) Office of the Commissioner U.S. Department of Health and Human Services 370 L'Enfant Promenade, S.W. Washington, D.C. 20447 Phone: 202.690.6590 Website: www.acf.hhs.gov/programs/add
Michelle Farrell, Director of Family ServicesSpecial Friends Foundation P.O. Box 313Windham, NH 03087Toll Free: 866Email: Website:
2003 RTS Conference Procee(aka “The Brown Book”)www.rubinstein
Rubinstein(aka “the Blue Booklet”)Cathy A. Stevens, MDDept910 Blackford St.Chattanooga, TN 37403(
National Organization for Rare Disorders, Inc. (NORD)55 Kenosia AvenueP.O. Box 1968Danbury, CT 06813Website:
The Arc For People with Intellectual & Developmental Disabilities
Washington, DC 20036(800) 433
Administration on Developmental Disabilities (ADD)Office of the CommissionerU.S. Department of Health and Human Services370 L'Enfant Promenade, S.W.WashinPhone: www.acf.hhs.gov/programs/add
David Schor, MD, MPH RTS Program Director Division of Developmental & Behavioral Pediatrics Cincinnati Children's Hospital Medical Center MLC 4002, 3333 Burnet Ave. Cincinnati, OH 45229 800-344-2462 ext. 0541 Email: [email protected] *NEW Website: www.cincinnatichildrens.org/rts Amy Clawson, Editor, RTS News Division of Developmental & Behavioral Pediatrics Cincinnati Children’s Hospital Medical Center 800-344-2462 ext. 4723, 513-636-4723 Email: [email protected] Rubinstein Library Division of Developmental & Behavioral Pediatrics Cincinnati Children’s Hospital Medical Center 800-344-2462 ext. 4626, 513-636-4626 Email: [email protected] RTS-OKI Family Support Group Bill Mann, Parent Leader 513-708-5611 or Email: [email protected] RTS Email ListServ Janet Estes, ListServ Manager 250-753-7795 or Email: [email protected] RTS Parent Group USA Lorrie Baxter, Coordinator P.O. Box 146 Smith Center, KS 66967 Toll Free: 888-447-2989 Email: [email protected] Rubinstein-Taybi Syndrome Website: www.rubinstein-taybi.org
Reasons to Share . . . RTS Resources
* NEW Support for RTS families in Spain and other Spanish-speaking communities! A website: (www.rubinsteintaybi.es), a Facebook page (https://www.facebook.com/groups/176355225732361/), a Google Group (Sindrome Rubinstein-Taybi) and an email list have been created for these families and friends who wish to share experiences, concerns, frustrations and good news, ask questions, and share anything related to RTS. The email list is similar to the listserv owned by Janet Estes, but for the Spanish-speaking community. Contact: Cristina Fonseca, parent (Spain), email [email protected], or look up Síndrome Rubinstein-Taybi within Google groups and send a request to join the group.
