Your Children. - International Rett Syndrome

Dear Conference Attendees,
Welcome to our 26th Rett Syndrome Education and Awareness
conference. Whether this conference is your first or your twentysixth, we invite you to hike a common trail with us this weekend, join
in our shared journey to a land of possibilities, where a breathtaking
view of healthy, fulfilling lives for ourselves and our children will be
imagined. Whether by plane, train, bus, or car, you have come seeking
answers to questions that no one else could answer for you, to make
or renew friendships, to recharge your batteries, and to learn how to
be the best parent, advocate or caregiver you can be for your child.
You desire to know more, you are curious about what’s new, and you
imagine what could be. We have brought you together to meet with
the experts, to train you how to climb the tall mountains you conquer
every day in your homes, in your communities, and in schools, clinics,
and research labs worldwide!
Take the time to read through the program carefully, and plan your
session attendances thoughtfully. Check the message boards and
registration desk for last minute program changes. No doubt you will
feel hard pressed to get to every session you want. We wouldn’t have
done our jobs if you didn’t. Don’t forget you can purchase audio files
of the Sunday sessions you might miss, and video files of the Saturday
sessions. Be sure to attend the wonderful Tribute Reception onsite
Saturday night to celebrate our shared purpose. Look out for our
canine friends from Colorado Service Dogs in the respite and Exhibitor
area if you need a little furry companionship!
Newcomers and old-timers alike may need a few minutes away
for reflection. Take that time around the grounds of the Cheyenne
Mountain Resort. The awe-inspiring beauty of the Rocky Mountains
is just what you need to relax and process all of the great information
you’ve come here to learn.
If you need help planning outings to local points of interest, just check
your Welcome materials for ideas, and visit the concierge desk. They
are happy to help. Friendly IRSF staff will be at the Registration/Help
Desk to answer questions and point you in the right directions. Don’t
hesitate to introduce yourself to our wonderful Speakers, Exhibitors,
IRSF staff, Board of Directors, Family Advisory Board members,
Regional Representatives, Conference Planning Committee members,
and other attendees. The value of this conference is as much about
the relationships you will grow as it is about the tools and information
you will learn.
We welcome you and
celebrate you and
your children.
Paige Nues
Conference Director
I RSF staff
Stephen Bajardi
Jennifer Endres
Jenni Grammer
Mary Joyce Griffin
Lisa Hayden
Tony Horton, PhD
Jim Keller
Cara Leighton
Organizing Committee
Laurie Huisingh
Shirley Hurlburt
Leslie Greenfield
Mickie McCool
Ann Nelson
Carrie Rose
Diane Ross
Edith Turner
What lies behind us and
what lies before us are but
small matters compared to
what lies within us.
—Ralph Waldo Emerson
Conference Program 1
friday, May 28 – monday, may 31
Program is subject to change. Please check message boards to confirm session
times and room assignments. All session times are Mountain Time Zone.
See Program Back Cover for Conference Center floor plan.
DAY
TIME
SESSION
SPEAKER
LOCATION
Fri–
Mon
Fri noon–9p
sat 7:30a–7:30p
Sun 7:30a–5:30p
MON 8a–noon
Registration/Help Desk
IRSF Staff and Volunteers
Promenade Level
Foyer
Fri–
Mon
sat 7:30a–7:30p
Sun 7:30a–5:30p
MON 8a–noon
Bookstore: Awareness items, educational
materials
Cara Leighton, IRSF
Boardroom
Sat–
Sun
9a–5p
Exhibitors and Information Booths: Assistive
technology, adaptive equipment, fundraising,
clinics and more
Exhibitors and IRSF Staff
Promenade Level
Foyer Area
Session hours only
Respite Program
9a–noon
Barn Tour: Pikes Peak Therapeutic Riding Center
Noon–9p
Registration Open
IRSF staff
6p–10p
Dinner
At your leisure
Mountain View Restaurant
Welcome and Orientation
Paige Nues, Director, Family Support, IRSF
Colorado Ballroom
Welcome Address
Mickie McCool, Conference Planning
Committee, Parent
Colorado Ballroom
Fri
May 28
7p
8p
Sat
Shoshoni and Manitou
See Concierge desk for map and details
Crackerbarrels: Hopes and Expectations
IRSF Regional Representative Facilitators
3 years and under
Katie Guernsey and Joey Razzano
White River I
4–7 years
Emilie Rabke and Deberah Patterson
White River II
8–16 years
Cordelia Albanese and Shannon Stoiber
Cheyenne I
17 years and over
Clifford and Judy Fry
Cheyenne II
Grandparents
Diane Ross and Jennifer Endres
Executive Press Room/
Amphitheatre
Rettnetters and Facebookers
Shirley Hurlburt
Comanche
CDKLS/Atypical Rett
Katherine Elibri Frame
Ute
Professionals
Will Rabke
Kiowa
6:30a–10:00a
Breakfast
At your leisure
Mountain View Restaurant
8a
Rett Syndrome 101
Alan Percy, MD, Director UAB Rett Center at
the University of Alabama Birmingham Civitan
International Research Center
Colorado Ballroom
8:30a
Genetics 101
Steve Skinner, MD, Director Clinical Genetics Services,
Greenwood Genetic Center
Colorado Ballroom
9a
Keynote: The Power of the Powerless
Susan Zimmermann, author Keeping Katherine
Colorado Ballroom
9:30a
Break
9:45a
What’s Going Right in the Brain
Aleksandra Djukic, MD, PhD, Director, Rett Syndrome
Center, Albert Einstein College of Medicine at
Montefiore
Colorado Ballroom
10:10a
Apraxia and Communication
Linda Burkhart, Simplified Technology
Colorado Ballroom
10:55a
Enhancing Communication: Regulating Sensory
Input and Supporting Ease of Access
Judy Lariviere, MEd, OTR/L, Communication Specialist, Colorado Ballroom
Rett Clinic, Oakland Children’s Hospital
11:40a
An Integrated Model of Communication and
Literacy Instruction for Students with Rett
Syndrome
Pati King-DeBaun, MS CCC-SLP, Creative
Communicating
Foyers
Colorado Ballroom
12:15p
Lunch
Mountain View Restaurant Hours 11a–2p
Mountain View Restaurant
1:15p
Well Child and Adult Care Overview
Jane Lane, RN, University of Alabama Birmingham
Rett Center and IRSF
Colorado Ballroom
1:40p
Neurology for Rett Syndrome
Daniel G. Glaze, MD
Professor, Departments of Pediatrics and Neurology
Baylor College of Medicine
Medical Director, The Blue Bird Circle Rett Center
Chief, The Rett Clinic, Texas Children’s Hospital
Chief, Texas Children’s Hospital Sleep Clinic
Colorado Ballroom
continued next page
Conference Program 2
Program is subject to change. Please check message boards to confirm session times
and room assignments. All session times are Mountain Time Zone.
saturday, May 29 – sunday, may 30
See Program Back Cover for Conference Center floor plan.
DAY
Sat
May 29
cont.
sun
may 30
TIME
SESSION
SPEAKER
LOCATION
2:15p
Gastroenterology for Rett Syndrome
Kathleen Motil, M.D., Ph.D. Pediatrician and
Gastroenterologist, Blue Bird Rett Center BCM, TCH
Colorado Ballroom
2:45p
Orthopaedics and Scoliosis
John Killian, MD, Orthopaedics for Kids
Colorado Ballroom
3:15p
Importance of Therapies
Aloysia Schwabe, M.D., Physical Medicine and
Rehabilitation, Blue Bird Rett Center, BCM, TCH
Colorado Ballroom
3:45pm
Break
4pm
Research and Clinical Trials
Tony Horton, PhD, IRSF and Jeffrey Neul, MD, PhD,
Baylor College of Medicine
Colorado Ballroom
5pm
Direction of IRSF: Supporting Families, Raising
Awareness and the Research to Reality Campaign
Kathryn Kissam, Chairman, IRSF Board of Directors
and Steve Bajardi, Executive Director, IRSF
Colorado Ballroom
6p–10p
Dinner
At your leisure
Mountain View
Restaurant
7:30p
Tribute Reception and Auction
Hosted by IRSF
Centennial Ballroom (Main
Lodge Entry Level)
6:30a–10:00a
Breakfast
At your leisure
Mountain View
Restaurant
8a–noon
Partner-Assisted Scanning with PODD
Communication Books: Strategies for Children
who have Rett Syndrome
Linda Burkhart, Simplified Technology
Workshop
The Enriched Environment: A Model for
Conversation with Schools and Others
Dr. Mary Jones, Director, Katie’s Clinic for Rett
Syndrome, Oakland Children’s Hospital & Research
Institute
White River I
PT/OT
Mike Binet, PT and Margaret Spring, OT, Children’s
Hospital Denver
Cheyenne II
The Maturing Woman with Rett Syndrome: From
Puberty to Menopause
Jane Lane, BSN, RN, University of Alabama
Birmingham Rett Center and IRSF
Cheyenne I
Clinical Features and Current Research: CDKL5
and Atypical Rett Syndrome
Jeffrey Neul, MD, PhD, Baylor College of Medicine
and Dr. Katheryn Elibri Frame, president of the
International Foundation for CDKL5 Research (IFCR)
Colorado Ballroom I
Getting Started: Visual Supports and Book
Reading Who? What? How? and When?
Pati King-DeBaun, MS CCC-SLP, Creative
Communicating
White River II
Would Counseling Help?
Robert Furey, Ph.D.
Cheyenne II
Cognitive and IEP Assessment Tools 101
Dr. Terry Katz, University of CO School of Medicine
White River I
Nutritional Management of Children with Rett
Syndrome
Marilyn Stevenson, RD, CSP and Margaret Spring, OT,
Children’s Hospital Denver
Colorado Ballroom I
Roundtable Discussion: Once She’s Grown Up
and Out of School
Clifford and Judy Fry
Cheyenne II
Climbing the “Eye Gaze Technology” Mountain:
Steps for Conducting Successful Trials
Judy Lariviere, M.Ed., OTR/L, Communication
Specialist, Rett Clinic, Oakland Children’s Hospital &
Research Institute
White River I
PT/OT
Mike Binet, PT and Margaret Spring, OT, Children’s
Hospital Denver
Cheyenne II
Accessing the General Education Curriculum
Mick Ross, MS and Diane Ross, MS, LCPC, Educators
and Parents
Cheyenne I
Fundraising: A “How-To” Workshop
Jennifer Endres, Family Resource Manager, IRSF and
Jenni Grammer, Special Events Program Manager, IRSF
Colorado Ballroom I
Nutritional Management of Children with Rett
Syndrome
Marilyn Stevenson, RD, CSP, Children’s Hospital
Denver
White River II
8a
9a
10a
Foyers
Executive Press Room/
Amphitheatre
11:10a
Sibling Panel
Nakisha Whittington
Colorado Ballroom I
11:50a
Dads’ Panel
Jeff Huisingh
Colorado Ballroom I
12:30p
Lunch
Mountain View Restaurant Hours 11a–2p
Mountain View Restaurant
Conference Program 3
Program is subject to change. Please check message boards to confirm session times
and room assignments. All session times are Mountain Time Zone.
sunday, may 30 – MONDAY, May 31
See Program Back Cover for Conference Center floor plan.
DAY
sun
may 30
cont.
TIME
1:30p
2:30p
SPEAKER
LOCATION
Your Journey Through an Eight Step Special
Needs Planning Program
Mary Anne Ehlert, Protected Tomorrows
White River II
Writing Goals and Objectives for
Authentic Communication
Linda Burkhart, Simplified Technology
Executive Press Room/
Amphitheatre
Fundraising: A “How-To” Workshop
Jennifer Endres, Family Resource Manager, IRSF and
Jenni Grammer, Special Events Program Manager,
IRSF
Colorado Ballroom I
The Transition to Adulthood and Community
Programs
Laura Marshall, M.A., University of Colorado at
Colorado Springs
Cheyenne II
Implementing Effective Inclusive Practices
Robin Brewer, University of Northern Colorado
White River II
Fostering Friendships: Toddlers to Teens
Diane Ross, MS, LCPC, Educator, Therapist and Parent
Cheyenne I
Hippotherapy
Nancy Beers, Program Director and Amanda Delizzio,
OT, Pikes Peak Therapeutic Riding Center
Cheyenne II
Getting Started Visual Supports and Book
Reading. Who? What? How? and When?
Pati King-DeBaun, M.S. CCC-SLP, Creative
Communicating
White River II
Climbing the “Eye Gaze Technology” Mountain:
Steps for Conducting Successful Trials
Judy Lariviere, M.Ed., OTR/L, Communication
Specialist, Rett Clinic, Oakland Children’s Hospital
White River I
Research Q&A
Alan Percy, MD, Director UAB Rett Center at
the University of Alabama Birmingham Civitan
International Research Center and Jeffrey Neul, MD,
PhD, Baylor College of Medicine
Colorado Ballroom I
3:30p
Break
4p
Your Journey Through an Eight Step Special
Needs Planning Program
Mary Anne Ehlert, Protected Tomorrows
White River I
Art Therapy
Karla Trapp, Art Alchemy
Colorado Ballroom I
Becoming a Reader: Literacy Strategies from an
Integrated Model of Communication Instruction
Pati King-DeBaun, M.S. CCC-SLP, Creative
Communicating
White River II
Recreational Possibilities for Your Child with Rett
Syndrome
Beth Fox, Operations Manager, National Sports
Center for the Disabled (NSCD)
Cheyenne I
Writing SMART IEP Goals
Terry Wise, MA Special Education and Administration
Cheyenne II
Successful Integration of an Eye-Controlled
Communication Device into Conversations at
Home, School, and in the Community
Judy Lariviere, M.Ed., OTR/L, Communication
Specialist, Rett Clinic, Oakland Children’s Hospital
White River I
5p
6:15p
8pm
mon
may 31
SESSION
9am
Would Counseling Help?
Robert Furey, Ph.D.
Cheyenne I
1:1 Consults with the IRSF Fundraising Team
(signups taken at the IRSF Fundraising Exhibitor
booth)
Jennifer Endres, Family Resource Manager, IRSF
and Jenni Grammer, Special Events Program
Manager, IRSF
Colorado Ballroom I
Writing SMART IEP Goals
Terry Wise, MA Special Education and Administration
Cheyenne II
Implementing Effective Inclusive Practices
Robin Brewer, University of Northern Colorado
White River II
Closing Remarks
Paige Nues, Director, Family Support, IRSF
Colorado Ballroom I
“Silent Angels” Movie Night
Crackerbarrels: Learnings and Takeaways
Groupings by region: East, South, Midwest,
Rocky Mountain, West
Noon
Foyers
Registration/Help Desk/Bookstore close
Executive Press Room/
Amphitheatre
Facilitators: Leslie Greenfield, Deborah Jennings,
Shannon Stoiber, Heidi and Rhett Burnham, David
and Melissa Luntz
White River
Foyer and Boardroom
Information
Registration in the Promenade Level Foyer begins at noon on Friday. Pick up your
registration materials, badge, bag, photo button, and meal tickets. Remember to
drop off an auction item.
Crackerbarrels are informal chat groups. There won’t be any crackers, but it’s guaranteed to
be a barrel of friendship and warmth. Gather in groups by your child’s age, as grandparents, or as
professionals. Or you may want to join the Rettnetter/Facebooker Crackerbarrel to give a hello and
a hug to your online friends. This is a wonderful time to meet others in a casual atmosphere to talk
things over. Move from one group to another if you would like to.
Bookstore in the Boardroom is where you’ll find tee shirts, hats, handbooks, and lots of other Rett
syndrome awareness items of interest. Here’s your chance to pick up a souvenir or find a gift for that
special teacher, caregiver or loved one. Checks and credit cards are welcome.
Help and directions can be found at the Registration Desk or the Bookstore. IRSF Staff will be
wearing IRSF name tags and are ready to assist you. Board Members, Regional Representatives, Family
Advisory Board members, and Speakers will be also be identified by name badge or colored ribbons
that identify their roles throughout the meeting. Don’t hesitate to ask; that’s what we’re here for!
Sessions, on a tender note, are only for adults and children over 12 who have paid a conference fee.
Please wear your conference badge at all times. The sessions are professionally taped and require
minimum noise level in meeting rooms. Please close doors quietly with consideration for speakers
and other attendees and limit noise in hallways outside the session rooms. Please set cell phones
to silent or vibrate mode.
Session Recordings and Session Handouts Each session will be professionally recorded by the
Cheyenne Mountain Resort AV staff. Video files (MP4s) of the Saturday sessions and MP3s (audio files)
of the Sunday sessions will be available for purchase after conference on the IRSF online store found at
www.rettsyndrome.org for a per-session price with a group discount for the whole set. These are best
paired with session slides and handouts. We will post all the materials that our speakers can permissibly
share to the website within a few weeks after conference.
Meals are provided in the Mountain View restaurant according to your type of registration. If you paid
a FULL REGISTRATION or have a SCHOLARSHIP, meal tickets for Friday dinner; Saturday breakfast, lunch,
dinner; Sunday breakfast and lunch; and the Tribute Reception on Saturday night in the Centennial
Ballroom are provided when you check-in at the Registration desk. ONE DAY REGISTRATION includes
breakfast and lunch meal tickets for that day. Seating is limited. Those in the dining area must have a
meal ticket, or will be charged, except our girls and women with Rett syndrome. IRSF and the Mountain
View restaurant warmly invites them to meals with the group at no charge as our special guests. Please
keep track of your meal tickets as they are non-replaceable, or pass to a friend if you plan to miss a
meal as they are non-refundable. Other wonderful restaurant, food (and entertainment!) options are
available at the Cheyenne Mountain Resort, and some of these will be covered by your room rate, and
some may require additional fees. Check with Concierge for details.
Respite is available for a limited number of children and adults with Rett syndrome by pre-registration
and for a nominal fee in the Shoshoni and Manatou rooms. Please, no drop-ins. Check with the
registration desk for details. We are pleased to offer this for the first time at our annual conference,
and appreciate your understanding while we develop this onsite support system!
Evaluation Forms are important to help us improve our conference year-over-year. Please complete
the conference and session evaluation forms found in your registration materials and turn in at the
Registration desk.
It is not the mountain we
conquer, but ourselves.
—Sir Edmund Hillary
Special Events
Tribute Reception Saturday night in the Centennial Ballroom (main lodge
26 YEARS OF CARING
entry level) is our chance to pay tribute to our special angels, and to thank the
many people who have made our success possible. The highlight of the evening
is a music video tribute to our girls. You are guaranteed to enjoy it all, and there
will be fun for everyone. You can dance the night away, bid on exciting items in
our Silent Auction, or just settle in, enjoy the special entertainment; take time
to chat with old friends and meet new ones. Tickets are included with your
paid conference fee, and additional guests are invited to purchase tickets at the
Registration Desk for $15 per person while available. Our girls and women with
Rett syndrome are welcome at no charge. Coffee and dessert will be served.
Cash bar.
1/1985
“No Longer Alone”
Baltimore, MD
11/1985
“Rett: A New
Syndrome”
Baltimore, MD
1987
“RS Diagnosis &
Management”
Houston, TX
1988
“Rett Families
Conference”
Houston, TX
1989
“Hope for Tomorrow” Washington, DC
1990
“Family Ties”
Washington, DC
1991
“Up, Up and Away”
Denver, CO
1992
“New Horizons”
San Diego, CA
Silent Auction You are sure to find something you can’t live without in the
1993
“Stepping Stones”
San Diego, CA
collection of items on display at the back of the Colorado Ballroom, home to
the Saturday general sessions. Here’s how it works: just sign your name and
bid amount on the bid sheet of the item you want. Be sure to keep checking
throughout the day up until the Auction formally closes Saturday night at the
Tribute Reception. You never know who might beat your offer! Go ahead and
make the bid—all proceeds benefit Rett syndrome!
1994
“A Decade of Caring”
Chicago, IL
1995
“A Road Less
Traveled”
Minneapolis, MN
1996
“Spirit of ‘96”
Boston, MA
1997
“Keeping Afloat”
Bahamas
1998
“Grass Roots”
Charleston, SC
1999
“Meet Me in
St. Louis”
St Louis, MO
2000
“Hitting the Jackpot”
Las Vegas, NV
2001
“Possibilities”
Washington, DC
2002
“Empowerment”
Chicago, IL
2003
“Ship Shape for
Caregivers”
Bahamas
2004
“Believe in Better
Days”
Baltimore, MD
on look at communication devices, adaptive equipment, and more throughout
Saturday and Sunday.
2005
“Trails to Discovery”
San Antonio, TX
2006
“Bridges of Hope”
San Francisco, CA
Helping Hands Keepsake Ad Journal Look through the incredible journal
2007
“Reach Me,
Teach Me”
Atlanta, GA
2008
“Together We
Are Better”
Chicago, IL
2009
“Celebrating the
Torch Within”
Leesburg, VA
2010
“Ain’t No Mountain
High Enough”
Colorado
Springs, CO
Sunday “Silent Angels” Movie Night Staying over Sunday night?
Join us in the Amphitheatre for a free showing of “our” story!
Additional Programs and Activities
Exhibitors Visit the Exhibitor area in the Promenade Level Foyer for a hands-
enclosed within your registration materials in your conference bag and read
the heart-warming tributes and messages of hope submitted by Rett syndrome
families and friends. This is as close as we come to a Rett Syndrome Yearbook—
we hope you enjoy!
Session Descriptions 1
1:1 Consults with the IRSF Fundraising Team
This is an opportunity for attendees to schedule one-on-one
consults with IRSF’s Jenni Grammer and/or Jennifer Endres
to discuss proven ways to grow your specific event or how
to get your new event off the ground. This experienced team
is available to help you brainstorm and make your planning
efforts an easy and successful process. Please sign-up at the
Fundraising Exhibitor table. —Sunday afternoon
Accessing the General Education Curriculum
Mick and Diane Ross believe that all girls with Rett syndrome
are capable of learning and benefitting from having access to
a wide variety of curriculum and educational experiences. This
session is about adapting the regular education curriculum
for girls with Rett syndrome, preschool through college. A
variety of strategies and practical approaches to accessing
and adapting regular education curriculum to meet the
needs of girls with Rett syndrome will be presented.
—Sunday morning
An Integrated Model of Communication and Literacy
Instruction for Students with Rett Syndrome This session
discusses a communication instructional model that focuses
on strategically integrating literacy, linguistic, and social
(conversational) skills into the teaching plans for students.
This model has high expectations for every student and is
particularly helpful for students with Rett Syndrome where
often the teaching of skills is isolated. This integrated model
emphasizes a continuous progression of skills that lead to
both literacy and communication success.
—Saturday morning
Apraxia and Communication Children with Rett Syndrome
face a variety of challenges to communication and learning.
Severe apraxia makes it difficult for them to move their
bodies according to their intents. Neurologically driven
hand wringing and mouthing stereotypes often make these
children appear severely cognitively impaired. How does
apraxia affect motor skills, nonverbal communication, and
verbal skills for children with Rett Syndrome? Where do you
start? How do you tap into the child’s communicative intent?
Strategies for reading subtle non-verbal communication and
then helping the child develop a more reliable, and clear
means of communication will be explored.
—Saturday morning
Art Therapy and Rett Syndrome What does a weekly Art
Therapy session look like between a therapist and a 12-yearold girl diagnosed with Rett Syndrome? How does Art
therapy work WITH the challenges of Rett Syndrome rather
than struggle against them? Many mediums and Art Therapy
interventions are used to stimulate and soothe the client,
such as body tracing, “third hand” art, guided imaginative art
making and tactile exploration. The interpersonal relationship
between therapist and client will also be discussed, and how
this dynamic may impact and deepen a session.
—Sunday afternoon
The bond that links your true family is not one of blood,
but of respect and joy in each other’s life... —Richard Bach
Becoming a Reader: Literacy Strategies from an
Integrated Model of Communication Instruction
This session will go into more depth on how to transition
students from early literacy levels to conventional reading
skills. How do you know what your students know, how do
you transition to silent reading and how do you measure
progress? Emphasis will be placed on selecting core words
or key words on the student’s AAC system for their strong
literacy and communicative base. Participants will learn
specific strategies for teaching students how to identify
and eventually read and spell those words to become more
successful at both communication and literacy. This session
is for those students who you feel should be moving forward
on the literacy continuum but are not. —Sunday afternoon
Climbing the “Eye Gaze Technology” Mountain: Steps
for Conducting Successful Trials Although portable “eye
gaze” systems have been around for over a year now, girls
and women with Rett syndrome (RTT) typically have to climb
a mountain of barriers before funding for an eye-controlled
communication device is approved. In this presentation,
specific page set-ups, configurations, and activities that
have resulted in successful eye gaze trials with multiple
girls and women, ranging from 2 to 25 years of age, will be
demonstrated. Recommendations for data collection that
document the success a girl experiences in using her eyes as
a means of access will also be highlighted. In addition, the
importance of conducting trials with various eye-controlled
communication devices will be discussed in relation to the
unique features that each system offers. Audience: Preschool,
Elementary School, Middle School, High School, and Adult.
—Sunday morning and afternoon
Clinical Features and Current Research: CDKL5 and
Atypical Rett Syndrome Mutations in the X-linked cyclindependent kinase-like 5 (CDKL5) gene have been identified
in patients with Rett syndrome, with the predominate
features of generally intractable early-onset seizures and
mental retardation. Overall, the characteristics of CDKL5 are
similar to Rett syndrome, however most patients diagnosed
with a CDKL5 mutation do not have a MeCP2 mutation.
This program will describe characteristics of patients
affected with CDKL5 mutations. This program will also
review the emerging hypothesis that CDKL5 and MeCP2
work in common molecular pathways, as well as describe
current early-stage research examining the role of CDKL5
in neurodevelopmental disorders. This session will be of
interest to families of children with a known CDKL5 diagnosis;
families of children with clinical Rett Syndrome who do not
have a MeCP2 mutation, or who have prevalent seizures; all
others interested in learning more about CDKL5 and current
research. —Sunday morning
Session Descriptions 2
Cognitive and IEP Assessment Tools 101 We will review
the standardized measures that are commonly used to assess
children with Rett Syndrome and compare the information
we get from these measures with the information that we
may be able to obtain by talking with parents, teachers,
and therapists. We will address the challenges of assessing
children with Rett Syndrome and the ways in which creativity
and flexibility are needed to develop effective treatment
plans. —Sunday morning
Enhancing Communication: Regulating Sensory Input
and Supporting Ease of Access This presentation will
highlight strategies that enable girls and women with
Rett syndrome (RTT) to enhance their communication in
a relatively short period of time. Regulating sensory input
will be described in terms of the sensory stimulation a
girl must process and modulate in various environments.
Strategies for recognizing when a girl is in a “regulated state”
and ready to communicate or participate in an activity will
be highlighted. The need to identify a girl’s “best” means
of access to technology and its impact on communication
will also be demonstrated. The importance of balancing
motor demands with cognitive and communication load
will be discussed, particularly in relation to evaluating a girl’s
access to technology. Additionally, videos of girls who are
“self-regulated” and interacting with their communication
partners using their easiest means of access to simple and
sophisticated technology will be shared. —Saturday morning
Fostering Friendships: Toddlers To Teens This session will
provide ideas to assist parents in fostering friendships for
their girls with Rett syndrome. Strategies for adapting games,
crafts and activities to engage the girls with their typically
developing peers in age appropriate games and activities
will be provided. This session also explores the commitment
and time that it takes to assist girls with Rett syndrome in
obtaining and maintaining lifelong relationships.
—Sunday afternoon
Fundraising “How-To” Workshop Learn the important
basics of successful fundraising in this one hour session.
Leave feeling knowledgeable and energized to begin your
own event to raise the much needed funds to support IRSF’s
mission to fund research, support families and increase
advocacy and awareness. This session will help you to narrow
down the type of event you may choose to hold, explain
how to get started, and provide strategies to ensure success.
Browse the many sample invitations, timelines, literature,
folders and more that IRSF has to offer and leave knowing
the resources that are available to you. —Sunday morning
and Sunday afternoon
Gastroenterology An overview of common GI issues to
watch for in Rett syndrome, from swallowing to GERD and
constipation, along with recommended treatments and
interventions. —Saturday afternoon
Getting Started Visual Supports and Book Reading.
Who? What? How? and When? Highlights of this session
will include understanding how to use symbol supports
within book readings, when to fade symbols and scaffolding
techniques to move students on a literacy continuum.
Emphasis will be placed on book selection, adaptations,
and presentation techniques. Strategies discussed will
be appropriate for students who are at emergent literacy
levels and in toddler/preschool–early elementary programs.
—Sunday morning and afternoon
Growing straight and tall with Rett: Bone and Muscle
issues This session will cover issues encountered in the
juvenile and adolescent period. It will touch on problems
of the foot and ankle, hip and spine. We will discuss what is
known and common practices. —Saturday afternoon
Hippotherapy is therapy using the movement of the
horse as a means to achieve therapy goals. Specially trained
physical, occupational, and speech therapists evaluate
individuals needing this distinctive therapy and lead the
treatment with the help of certified therapeutic riding
instructors. Volunteers help lead the horse and provide
support and safety of the rider. The horse’s movement
challenges the rider’s balance, improves their posture,
strengthens their muscles, reduces their spasticity, increases
mobility, and facilitates speech and language skills. Many of
the riders don’t realize that they are in therapy as opposed to
traditional physical therapy, which can often be a painful and
arduous process for clients. Hippotherapy does not replace
traditional therapy, but is designed to enhance it.
—Sunday afternoon
Implementing Effective Inclusive Practices Learn how
to develop effective educational modifications to include
students in the general education curriculum. We will
explore curricular materials and determine how these can be
modified to meet the needs of students at a variety of levels.
We will also discuss how to embed instruction on goals/
objectives into the general education curriculum. Finally,
we will explore how to collaborate with other professionals
to enhance communication and educational plans. This
hands-on session is applicable for both parents and teachers
preK–12. —Sunday afternoon
Keynote: The Power of the Powerless Susan Zimmermann
had life on a string—Yale Law degree, wonderful husband,
excellent health, and perfect first child—when everything
started to fall apart. Within a few months, her daughter
Katherine went from perfect to profoundly hurt and no
one could tell her why. She set out on a journey to “fix her
kid.” Along the way, Katherine—who is now thirty and was
diagnosed with Rett syndrome when she was seven—taught
her that rare gifts come in unexpected packages. Susan
weaves together blunt honesty and humor as she shares the
value of our stories, the beauty of our daughters, and the
power each of us has to say “yes” to whatever life throws us.
—Saturday morning
Session Descriptions 3
Neurology of Rett Syndrome This is a review of frequently
asked questions and management guide for seizures and
sleep problems. This talk is directed to parents and care takers
of girls and women with Rett syndrome. It will also cover an
update of the Natural History Study concerning these topics.
—Saturday afternoon
Nutritional Management of Children with Rett Syndrome
will include nutritional concerns such as growth, feeding
problems, hydration, nutritional deficiencies, and nutritional
interventions such as g-tubes, seizure diets, and high calorie
diets. Question and Answer time will be provided. Audience:
Parents and caregivers of children with Rett Syndrome.
—Sunday morning
Orthopaedics and Scoliosis The common orthopaedics
manifestations that are associated with the different stages
of neurodevelopment in Rett syndrome will be presented.
The common problems associated with ambulation,
dislocated hips, fractures, and scoliosis management
will be emphasized. —Saturday afternoon
Partner-Assisted Scanning with PODD Communication
Books: Strategies for Children who have Rett Syndrome
(Workshop) Girls with Rett Syndrome often struggle with
trying to juggle the challenges of motor coordination,
sensory processing, communication, language, and
cognition needed to effectively communicate what
they are thinking. How do you provide a comprehensive
multi-modal, receptive, and expressive language learning
environment for children who face such significant
challenges? This session will demonstrate the use of
“Light Tech,” partner-assisted, multi-page communication
books and strategies that can help give a child a means of
interactive communication. Organization of vocabulary,
by pragmatic intent (PODD) based upon the work of Gayle
Porter (Melbourne, Australia) will be discussed. A glimpse
at how this translates to “high tech” communication devices
will also be shared. —Sunday morning
Physical Therapy / Occupational Therapy We will explore
current trends in the therapeutic approach to promoting
independence and maximizing function in the lives of
individuals with Rett Syndrome. Beginning with an in-depth
review of pertinent literature, we will expand into topic
areas including recommendations for treatment, utilizing
equipment and maximizing the collaborative effect of your
therapy team. —Sunday morning
Recreational Possibilities for Your Child with Rett
Syndrome Learn about therapeutic recreation and the value
of adapted sports programs for people with Rett syndrome
and their families. Beth Fox, Operations Manager of National
Sports Center for the Disabled (NSCD), located in Winter Park,
CO will take you on a virtual tour of the NSCD’s programs and
explain the mission and philosophy of the organization and
how you can use recreation as a therapeutic modality.
—Sunday late afternoon
Research and Clinical Trials Dr. Horton and Dr. Neul will
together give a “State of the Science” address, outlining
current progress in Rett research which is leading to the
development and testing of new treatments.
—Saturday afternoon
Rett Genetics 101 This session will provide an overview
of the complexities of the genetic basis of Rett syndrome
including understanding the inheritance patterns,
new mutations, deletions, duplications, mosaicism,
X-chromosome inactivation, and interpreting your child’s
mutation results. If your child has been tested, you may
wish to have her genetic test results on hand in order to
think about her specific results in relation to the information
presented in this lecture. —Saturday morning
Rett Syndrome 101 This session is particularly ideal for the
newly diagnosed, the newcomer or to brush up on the basics
of Rett syndrome. We will cover in high level: a bit of history;
incidence rates; consensus criteria for making the clinical
diagnosis of “classic” or “atypical” Rett syndrome; females and
males; longevity; genetics and MECP2; plus common medical
issues. —Saturday morning
Successful Integration of an Eye-Controlled
Communication Device into Conversations at Home,
School, and in the Community When a girl or woman
with Rett Syndrome (RTT) receives her eye-controlled
communication device, the process involved in selecting,
organizing, and programming vocabulary can be
overwhelming. In this presentation, the initial implementation
of page sets that are designed for a girl’s ease of access
and immediate interaction across different settings will be
highlighted. Videos of real life experiences will be shown to
demonstrate how girls are successfully integrating their new
eye-controlled communication devices into conversations with
various communication partners at home, school, and in the
community. Recommendations for supporting a girl’s access
to and exploration of preprogrammed language-based page
sets to enhance her conversations using novel expressions will
also be shared. Audience: Preschool, Elementary School, Middle
School, High School, and Adult. —Sunday late afternoon
The Enriched Environment: A Model for Conversation
with Schools and Others This session will introduce
the Enriched Environment as a model for parents to
effectively communicate supports needed for the growth
and development of your child with Rett syndrome to
schools, care providers, medical teams, therapists, and
the community. An actual guidebook will be shared with
participants that will explain in simple terms the elements
of an enriched environment, based solidly on findings from
scientific experiments with mice and knowledge of neural
plasticity. The enriched environment is a model built from
the synthesis of comments from parents who know their
children, scientific proof from researchers, common sense,
knowledge of Rett syndrome, and insights from educators,
Session Descriptions 4
therapists, and researchers. Participants will take away simple
tools that will enable you to be more articulate about Rett
syndrome, and to present your case for your child’s needs.
The elements of the enriched environment are the basis for
building partnerships with those who teach, treat, and work
with our children. —Sunday morning
The Maturing Woman with Rett Syndrome: From Puberty
to Menopause This presentation is a discussion of issues
that girls with Rett syndrome and their families face as they
mature into womanhood. Particular topics will include
the normal stages of puberty, menarche, and menopause,
seizures and antiepileptic medication issues that may arise
with puberty and throughout maturity, medications and
procedures for menstrual management, health maintenance
recommendations for special needs women, behavioral and
social issues in women with Rett syndrome, and updated
longevity information. —Sunday morning
The Transition To Adulthood and Community Programs
Transitioning to adulthood means many things: living
and work options, recreation and social events, volunteer
opportunities, Medicare funding, guardianship, and
government resources. Planning for a meaningful life in the
community takes time, relationships, and research. Learn
what is available, what questions to ask and how to access
the resources currently available to plan for life in school,
after school, and adult community options for women with
Rett Syndrome. This session is appropriate for caregivers of
18–21 years old. Participants will learn how to enable people
to make informed choices regarding their particular needs,
and the services that might be helpful to them.
—Sunday afternoon
Your Journey Through an Eight Step Special Needs
Planning Program The Protected Tomorrows presentation
is an interactive workshop which provides a good basic
understanding of some important facts, such as how to apply
for government benefits such as SSI, SSDI, Medicare, and
Medicaid. The presentation also reviews in an uncomplicated
manner how to prepare financially, and how to have your
family’s wills and trusts set up so as not to disqualify your
loved one for benefits in the future. Finally, and most
importantly, the topic of family communication is covered in
a fun yet serious manner. —Sunday afternoon
Well Child and Adult Care Overview During this session,
general health maintenance recommendations will be
discussed, including immunizations and periodic well visits
for the child and adult with Rett syndrome.
—Saturday afternoon
It isn’t the mountain ahead that wears you out;
it’s the grain of sand in your shoe. —Robert W. Service
What’s Going Right In The Brain In this talk Dr. Djukic will
illustrate the belief with which she runs the Rett Syndrome
Center at Montefiore: that a child with Rett syndrome will
be best served if approached not only as a patient but as
a whole child. Like any other individual, those with Rett
syndrome, besides weaknesses, have strengths and these
strengths can be utilized in order to overcome weaknesses.
Treatment of any individual symptom (seizures, irritability,
apraxia…) is only a part of the broader picture. Dr. Djukic
will review these positive aspects from different standpoints
including cellular/microscopic, imaging/MRI, therapies (PT,
OT), psychological/educational planning and illustrate how
they should be incorporated into the guidance that the
physician provides to each family for treatment, education
and research planning. —Saturday morning
Writing Goals and Objectives for Authentic
Communication Most children enter school with basic
communication skills, and can then use these skills to
interact with the learning process. Girls with Rett Syndrome
are often still learning to use augmentative communication
systems and will need many years to refine their skills of
language and motor access. Communication goals need to
focus on strategies to support the development of language
according to the communicative intent of the child for a full
range of communicative functions. This session will offer
some guiding principles and ideas for creating authentic
communication goals that include reasonable measurement
criteria. —Sunday afternoon
Writing SMART IEP Goals Test your SMART goals and
objectives IQ! In this session, we will review the federal law
regarding IEP goals and objectives, the components of a
SMART goal and objective, and review examples of SMART
goals and objectives with particular attention to some
examples incorporating access to the general curriculum,
assistive technology, augmentative communication, and
transition. Please bring a copy of your child’s current IEP
goals and objectives. If time allows, we will use some
practical examples from the audience and/or we will have
a work session near the end of the general session. The
session is relevant for parents, educators, therapists, and
administrators. —Sunday afternoon
Would Counseling Help Your Family? Did you ever wonder:
Would counseling help? In this session we will look at how
counseling might assist a family living with Rett Syndrome.
We will consider issues such as stress management,
parenting, sibling conflicts and communication. We will also
address the marital pressures that come with raising a child
with Rett Syndrome. Those who attend will be given the
opportunity to ask questions and give feedback on all topics
covered. —Sunday morning and afternoon
Speaker Bios 1
Stephen Bajardi, Executive Director,
IRSF, delivers the ideal combination of
experience, leadership, strategic thinking,
and fundraising acumen that drives the
foundation towards unprecedented forward
progress. Steve has a strong background in
the nonprofit world where he has worked
at an executive level for the National
Kidney Foundation, National Hemophilia
Foundation, Huntington’s Disease Society
of America, March of Dimes, Princess Grace
Foundation, and the Juvenile Diabetes
Foundation. Steve is currently a Board
Member of the National Organization of
Rare Diseases (NORD).
Judy O. Barrish, BSN, RN, is the Patient
Care Manager and Project Coordinator
for the Blue Bird Circle Rett Center in
the Department of Pediatrics, Section of
Neurology at Baylor College of Medicine in
Houston, TX and has worked in this position
for the past eight years. She received her
Bachelor of Science degree in Nursing at
Texas Women’s University in Denton, and
is a Board Member for the Association of
Clinical Research Nurses in Houston. Mrs.
Barrish began her nursing career in 1976,
specializing in intermediate and intensive
care for infants, and later, furthered her
experience as manager of the Pediatric
Nutrition & GI Procedures Suite—a position
which she held for 12 years. During her
time with the GI/Nutrition Department,
she had the opportunity to work with Dr.
Kathleen Motil, who is the specialist in
GI/Nutrition for the Blue Bird Circle Rett
Center in Houston. Mrs. Barrish brings with
her further educational knowledge from
working with the departments of Surgery
and Adult Clinical Care.
Nancy Beers, PPTRC Program Director, is a
certified instructor with the North American
Riding for the Handicapped Association and
the Certified Horsemanship Association,
with 25 years of experience in therapeutic
riding. She also has extensive experience
working with human service agencies and
managing a business. She is well known in
the therapeutic community for her use of
horses in the mental health arena.
Mike Binet is a Doctor of Physical Therapy
who earned his degree from Pacific
University in 2003. He began practicing in
pediatrics at Memorial Hospital for Children
in Colorado Springs and subsequently
transitioned to Care by the Children’s
Hospital in Denver, where he treats a
diverse population of children including
those with orthopaedic, neurological, and
developmental based diagnoses.
Dr. Robin Brewer is an Associate
Professor in the Division of Special
Education at the University of Northern
Colorado. She was formerly a Principal
Consultant at the Colorado Department
of Education, where she coordinated the
Behavior Support Teams for the state of
Colorado and the Colorado Autism Task
Force. Her research focus is improving
inclusive practices for students with
significant support needs in general
education classes. She has taught special
and general education classes in Oklahoma
and Colorado, and worked with adults with
developmental disabilities in vocational
and residential settings. Dr. Brewer has
presented on inclusive practices for
students with significant support needs
and/or autism, and on implementing
modifications for students in general
education settings.
Linda Burkhart is an internationally
known pioneer in the field of simplified
technology for children with severe
challenges. She has developed numerous
adapted switches and innovative
strategies for using these devices with
children. She is the author of a number
of books and software titles on topics of
assistive technology and augmentative
communication. Linda was a classroom
teacher for fifteen years. Then for eight
years, she worked as an Augmentative
Communication and Assistive Technology
Specialist for the Center for Technology in
Education—a joint project between the
Johns Hopkins University and the Maryland
State Department of Education. Currently,
Linda works as a private consultant and
technology integration specialist.
Aleksandra Djukic, M.D., Ph.D. Director,
Rett Syndrome Center, Albert Einstein
College of Medicine at Montefiore,
completed her neurology residency at the
Albert Einstein College of Medicine. She
is a diplomate of the American Board of
Psychiatry and Neurology. Dr. Djukic has a
Ph.D. in neuropsychology and is especially
qualified for evaluations and treatment
of children with learning disabilities,
addressing both cognitive and neurological
problems in children with a variety of
hereditary neurological diseases and babies
with neonatal neurological problems.
Dr. Djukic is a member of the International
Consortium for Rett Syndrome “RettSearch,”
leader of the working group for
development of Treatment Guidelines for
Rett Syndrome, grant reviewer for IRSF,
member of the International Committee
for the research of bio markers in Rett
Syndrome and member of the International
Committee for the research of outcome
measures in Rett Syndrome. Dr. Djukic
is member of RE-TT (Rett Education
–Transforming Teaching) a group which is
actively addressing educational issues and
provides support to families.
Mary Anne Ehlert is a financial
professional and sister to an individual
with disabilities. She is highly regarded as
a specialist in working with the families
of individuals with disabilities and the
elderly. She also serves as a member of the
Board of Directors of many organizations
providing services to children and adults
with special needs including National
Disability Institute in Washington D.C.,
Advisory Board for Pediatric and Acquired
Brain Injury Association, Illinois Special
Olympics, Gateway to Learning School for
Special Needs, and Illinois St. Coletta’s. She
is a member of the Alliance for the Mentally
Ill, ARC of Illinois, and the National Council
on Aging. She has been honored for her
contributions to the Lake County Advocacy
Conference for Persons with Disabilities.
She speaks to conferences and other
audiences on special needs and financial
planning has recently completed her book
“The Gift I Was Given.”
Katheryn Elibri Frame, D.O., has a
4-year-old daughter with CDKL5/Atypical
Rett Syndrome, and is the president and cofounder of the International Foundation for
CDKL5 Research (IFCR). Dr. Elibri graduated
medical school from Michigan State
University and is a diplomat of the American
Board Emergency Medicine, and board
prepared in Internal Medicine. Dr. Elibri has
experience with both basic science and
clinical research, and advocating for special
needs programs. She is now focusing many
of her efforts on building an organization
to fund research programs for the better
understanding of CDKL5 and its cure.
Jennifer Endres, Family Resource
Manager, IRSF, serves as a source of
emotional support for parents and
caregivers of those individuals diagnosed
with Rett syndrome as well as provides
information and resources to the broader
Rett syndrome community. She not only
assists families through hardships and
tough times, she has also inspired and
sparked the interest of numerous families
and individuals across the country to set out
on their own fundraising endeavors. She
and her husband successfully chair their
own Strollathon each spring. Jennifer has
numerous helpful tips and helpful hints to
share with anyone interested in planning an
event…ensuring ease and success. Jennifer
and Justin are the proud parents of 7-yearold, Jillian, diagnosed with Rett syndrome.
Beth Fox is an avid educator who began
her teaching career in the public school
system. She later combined the knowledge
from her background in competitive
athletics, special education, and physical
education to enter the therapeutic recreation
industry. She is currently the Operations
manager for the National Sports Center
Speaker Bios 2
for the Disabled and leads the recreation
program in all aspects of four-season
programming. Always eager to help people
with special needs achieve their goals, she
remains dedicated to working directly with
participants as well as helping instructors
gain specialized skills and knowledge so
that they too can make a positive impact
in this arena. Beth is an active presenter of
educational sessions regionally, nationally,
and internationally for professionals in the
adapted recreation industry.
Robert Furey, Ph.D. is the author of seven
books and numerous professional articles.
He has taught in the graduate programs
of several universities including St. Louis
University and the University of Missouri–
St. Louis. Over the years Dr. Furey has run
counseling groups for young adults with
a variety of medical conditions including
muscular dystrophy, cerebral palsy, and Rett
Syndrome. He has also served as a consultant
to the Missouri School for the Blind. He
has served as the President of the Board of
Directors for Epilepsy Foundation of America
(St. Louis Region). As a person with epilepsy
himself, he dedicates much of his personal
and professional life to helping those who
live with seizures.
Jenni Grammer, Special Events Program
Manager, IRSF, serves as the go-to person for
families and individuals who want to host
fundraising events for IRSF and lends her
fundraising know-how with event chairs.
She serves as a virtual committee member
for various Strollathons across the country
as well as chairs the Cincinnati Strollathon.
During event season Jenni is on the road
participating in a variety of events providing
day-of support and assistance with behind
the scenes details. Jenni works in the IRSF
Cincinnati, OH office which is also her
hometown. She has a background in fund
development and marketing and is willing
and able to help make any event fun, easy,
and successful.
Dr. Daniel Glaze is Medical Director of
the Blue Bird Circle Rett Center at Baylor
College of Medicine in Houston, TX, a
multi-disciplinary team evaluating both
clinical and basic research questions in Rett
Syndrome (RTT).
Dr. Glaze and colleagues are participating in
the NIH-funded Rare Disease Center project.
They are collaborating with Dr. Alan Percy as
the principal sites for RTT. These studies will
characterize the natural history of RTT and
examine quality of life and survival in RTT.
A study funded by the International Rett
Syndrome Foundation will characterize sleep
problems in rare diseases including Rett
syndrome. Additional current studies include
characterization of vitamin D, osteopenia
and gall bladder disease in RTT. The Center
continues to study epilepsy, autonomic
function and growth/nutrition in RTT. Center
scientists have developed an animal model
of Rett syndrome with the expectation that
successful treatment trials in this animal
model can be translated to studies in the
girls and women with RTT. Dr. Glaze and
his colleagues at Baylor are recognized
throughout the world for their contribution
to greater understanding of RTT.
Antony Horton, Ph.D., Chief Science
Officer, IRSF, gained his Doctoral degree
at St. Andrews University in Scotland
U.K., where he was trained in the areas
of neuroanatomy, developmental
neurobiology, and neuronal cell
survival. Following this, he conducted
four years of post-doctoral research
on neurodegenerative diseases at the
Rockefeller University in New York.
Dr. Horton has published on aspects of
neurodegeneration and neuronal cell
survival in a number of research papers
and journal articles. Prior to joining IRSF,
Dr. Horton gained valuable experience in
research management spending five years at
the Juvenile Diabetes Research Foundation
where as a Program Director, he led a small
team that helped set the translational
research agenda on Diabetic Complications.
In addition, Dr. Horton spent two years at
the Alzheimer’s Drug Discovery Foundation
where he worked in a Venture Philanthropy
setting on the development of drugs for
Alzheimer’s disease and related dementias.
Mary Jones, M.D., is a pediatrician and
partner in East Bay Pediatrics, Berkeley, CA.
She has served as Pediatric Department
Chairman at Alta Bates Hospital in Berkeley,
CA, and currently serves on the Alameda
County Children’s Advisory Council. Before
going to medical school she worked as a
public health nurse in NOLA. She received
an MPH in Maternal Child Health from the
Tulane School of Public Health and Tropical
Medicine. Six years ago one tiny patient with
Rett Syndrome and her parents touched the
hearts of Dr. Jones and her family. She joined
with other clinicians to found Katie’s Clinic
for Rett Syndrome in Children’s Hospital
Oakland. The multidisciplinary clinic now
serves patients from the western region
of the U.S. By working with experts in the
field and by partnering with physicians,
educators, therapists, and families it is Dr.
Jones’ goal to provide comprehensive care
for patients with Rett Syndrome.
Dr. Terry Katz, Ph.D. is a senior instructor
and licensed psychologist in the Department
of Pediatrics at the University of Colorado,
Denver. Dr. Katz provides assessment and
treatment for children and families through
her work at the Autism and Developmental
Disabilities Clinic at JFK Partners and at the
Child Development Unit at the Children’s
Hospital. She has worked with children
with developmental disabilities since 1986.
She is on the Board of Directors of the
Rocky Mountain Rett Association and is a
Professional Advisor for the International
Rett Syndrome Foundation. She has an
interest in diagnostic evaluation tools
and provides training and supervision in
assessment measures. Dr. Katz is involved
in the Autism Treatment Network (ATN),
a network of collaborative clinical teams
that provides ongoing care to children
and families at sites across the United
States and Canada. Dr. Katz will assist in
the implementation of a study that will
investigate the effectiveness of parent-based
sleep education programs. She co-leads a
sleep clinic for children with autism at the
Child Development Unit and works as a sleep
psychologist in the Pulmonary Clinic at the
Children’s Hospital.
Dr. John T. Killian is an pediatric
orthopaedic surgeon at Orthopaedics for
Kids, P.C. Dr. Killian serves as President of
the Alabama Orthopaedic Society, and
is a valued Professional Advisor to the
International Rett Syndrome Foundation.
He is widely published in professional
orthopaedic journals, speaks at many
professional conferences, and has authored
numerous patient education brochures.
Dr. Killian has given generously of his time
as an orthopaedic consultant to hundreds
of participants in the RDCRN Rett Syndrome
Natural History Research Study.
Pati King-DeBaun is a speech language
pathologist who has specialized in
communication for children with severe
and multiple disabilities for the past 25
years. Pati speaks and consults in a variety
of classrooms nationally and internationally
on the topics of interactive communication,
augmentative communication, and early
literacy for children with disabilities. Pati
is known for her hands-on and practical
work with children and the use of case and
video samples in her instruction. She has
written numerous articles and published
materials on the topic of augmentative
communication and early literacy skills for
children with disabilities. She has worked
with numerous universities worldwide
teaching courses and seminars on emergent
literacy, communication development,
and disabilities. Pati has been instrumental
in developing and collaborating on a
wide range of innovative literacy and
Speaker Bios 3
communication materials for children
with disabilities. Pati lives in Park City, UT
and when she in not working she enjoys
being outdoors skiing and having fun with
her family.
Jane Lane, BSN, RN has more than sixteen
years’ experience with Rett syndrome as a
research coordinator and manager in child
neurology and the Civitan International
Research Center at the University of
Alabama at Birmingham. She works
alongside Alan Percy, MD in their Rett
Syndrome Clinic and as the Project Manager
for the Angelman, Rett, and Prader-Willi
syndromes consortium of the Rare Disease
Clinical Research Network. The Natural
History study of Rett syndrome and MECP2
mutations alone has enrolled over 850
females and males with the disorder. She
has co-authored over 25 publications, many
pertaining to Rett syndrome.
Jane serves as a member of the RettSearch
Study Group, a international collaboration
related to the organization of clinical trials
for Rett syndrome and is the Family Support
Project Manager to the International Rett
Syndrome Foundation, serving as a resource
of issues regarding medical care for
families of children with Rett syndrome and
mutations in MECP2. She is a professional
advisor to the Southeastern Rett Syndrome
Alliance Board. She has spoken numerous
times on the topic of medical issues in Rett
syndrome and on issues related to the
maturing woman with Rett syndrome.
Judy Lariviere, M.Ed., OTR/L, is an
Assistive Technology Specialist and a
Pediatric Occupational Therapist who has
worked in the field of Assistive Technology,
including Augmentative and Alternative
Communication (AAC), for the past 22
years. Judy is also the Communication
Specialist at Katie’s Clinic for Rett Syndrome
at Children’s Hospital & Research Center
Oakland. Over the past nine years, Judy
has worked intensively with many girls
with Rett syndrome (RTT) identifying
their best means of access to technology
for communication and learning, while
also implementing tools and strategies to
support their educational progress. Judy
has conducted over 60 successful eye
gaze trials with girls and young women
with RTT using custom designed pages
that she has developed specifically for
girls and women with Rett Syndrome.
She has presented at several international
technology conferences about the work
she is doing with girls with RTT. Judy is
personally committed to helping girls with
Rett Syndrome express their own thoughts
and feelings, develop social closeness, and
learn to read and write.
Laura Marshall, M.A. is a senior instructor
in the Special Education Department of
the College of Education at the University
of Colorado at Colorado Springs. Laura
coordinated or directed four federally
funded self-determination transition
grants and is co-author of several selfdetermination transition curricula and
multimedia instructional materials. She has
conducted numerous training workshops
and presentations on self-determination
and transition. Prior to her university
appointment Laura taught in public and
private schools and adult service agencies.
Mickie McCool, Parent, credits her
daughter Ellie as the driving force behind
her creativity, resourcefulness, energy, and
problem-solving ability that has enabled
Mickie to strategize about Ellie’s home
health issues, drive for full-inclusion in
a regular school program with modified
curriculum, and raise funds and awareness
for research. She also serves on the IRSF
Family Advisory Board (FAB), this year’s
conference planning committee, is working
with contacts at Cardinal Glennon’s
Children’s Hospital to open a Rett syndrome
clinic, and is pending a governor-appointed
position as a member of the Missouri
Planning Council for Developmental
Disabilities (MPCDD). Mickie’s true talent
is her ability to work the subject of Rett
syndrome into nearly every conversation
with charm and joy.
Kathleen J. Motil, M.D., Ph.D. is an
Associate Professor of Pediatrics and
research scientist at the USDA/ARS
Children’s Nutrition Research Center,
Baylor College of Medicine, and serves as a
pediatric gastroenterologist in the Section
of Pediatric Gastroenterology and Nutrition,
Texas Children’s Hospital, Houston, TX. Dr.
Motil earned her M.D. degree at The Medical
College of Pennsylvania and her Ph.D. in
nutritional biochemistry and metabolism at
The Massachusetts Institute of Technology.
She completed her pediatric residency
at Montreal Children’s Hospital and her
fellowship in pediatric gastroenterology
and nutrition at Boston Children’s Hospital
Medical Center. At Baylor College of
Medicine, Dr. Motil’s research interests
focus on growth and nutrition in children
with rare genetic disorders, including Rett
Syndrome. She has conducted studies
on the dietary energy and protein needs,
oral motor and upper gastrointestinal
dysfunction, and the clinical outcomes of
gastrostomy placement in girls with Rett
syndrome. Her current projects examine
the natural history of osteopenia and the
role of dietary calcium in reversing low
bone mineral density in girls and women
with Rett syndrome. Dr. Motil has served
on the Scientific Advisory Boards of the
International Rett Syndrome Foundation
and the National Foundation for Ectodermal
Dysplasias. She has published more than
120 articles in her field.
Jeffrey L. Neul, M.D., Ph.D. is Assistant
Professor of the Department of Pediatrics,
Section of Neurology and the Assistant
Medical Director of The Blue Bird Circle Rett
Center at Baylor College of Medicine in
Houston, Texas. Dr. Neul received his M.D.
and Ph.D from the University of Chicago,
Illinois, and completed his residency and
fellowship programs at Baylor College of
Medicine. He has board certification in
Neurology, with Special Competency in
Child Neurology and is a member of the
Child Neurology Society, the American
Academy of Neurology, and the Society for
Neuroscience.
Dr. Neul is active both in laboratory and
clinical research working closely with Drs.
Daniel Glaze and Huda Zoghbi in those
areas. Dr. Neul is interested in translating
knowledge acquired from basic science
research into potential therapies for Rett
syndrome. He is actively using animal
models of Rett syndrome to elucidate the
pathophysiological mechanisms of disease
and to conduct preclinical trials of potential
therapies.
Paige Nues, Director of Family Support,
IRSF, dedicates her time to providing
a safety net of accurate information,
emotional support, and connections
for the families, caregivers, and support
teams of children with Rett syndrome.
She seeks to educate families, caregivers,
health providers and educators about the
medical, educational, legal, financial, and
social supports and research discoveries
necessary to successfully care for an
affected individual with Rett syndrome at
various stages of her life. Paige has served
on the Board of Directors, as a Regional
Representative, and is parent founder of
Katie’s Clinic for Rett Syndrome at Oakland
Children’s Hospital. She enjoyed a successful
career in sales, marketing, and business
development with Fortune 500 companies
prior to her daughter Katie’s diagnosis
of Rett syndrome in 2003. She and her
husband Jesse live in California, proud
parents of three extraordinary girls.
Speaker Bios 4
Alan Percy, M.D. is a pediatric neurologist
at the University of Alabama and
internationally known researcher on Rett
syndrome. He has occupied prominent
leadership positions in numerous academic
neurological societies and is Past President
of the Child Neurology Society and the
Child Neurology Foundation. Dr. Percy has
served as Director of the American Board
of Psychiatry and Neurology, is a Fellow in
both the American Academy of Pediatrics
and American Academy of Neurology and
is actively involved in many national and
international pediatric and neurology
societies. For the 10th consecutive year,
Dr. Percy was named one of America’s Best
Doctors on the www.bestdoctors.com
website. Dr. Percy has served as Scientific
Director for the International Rett Syndrome
Association and has organized and led
several international scientific meetings on
Rett syndrome. The first NIH funded Rett
center was established under Dr. Percy
at Baylor College of Medicine in 1986. He
currently serves as Professor of Pediatric
Neurology, Associate Director CIRC Director,
UAB IDDRC Principal Investigator, and PI
of the Angelman, Rett, and Prader-Willi
Syndrome Rare Disease Clinical Research
Consortium. In addition to authoring
more than 120 scientific papers on Rett
syndrome, Dr. Percy is a co-author of The
Rett Syndrome Handbook.
Diane M. Ross, MS, LCPC has spent the
last twenty years developing adaptations
for games, crafts, and activities for her
daughter Lindsey and her typically
developing peers. Diane has a Master’s
Degree in Education and is a Licensed
Clinical Professional Counselor. Diane and
her husband Mick live in Schaumburg, IL
with their four children including Lindsey,
age 23, with Rett syndrome.
Mick Ross, MS has a Master’s Degree
in Education with over thirty years of
teaching experience at the high school
level. Mick and his wife Diane have served
on numerous educational committees
locally and throughout the state of Illinois.
They have presented at many state and
national conferences on a variety of
educational topics. Mick and Diane have
been actively involved in their daughter
Lindsey’s inclusive education. They live in
Schaumburg, IL with their four children.
Aloysia Schwabe, M.D., is Chief
of Pediatric Physical Medicine and
Rehabilitation at Texas Children’s Hospital
and an Assistant Professor of Physical
Medicine and Rehabilitation at Baylor
College of Medicine. She has subspecialty
board certification in Pediatric Physical
Medicine and Rehabilitation and board
certification in Electrodiagnostic Medicine.
She is Chief of Spasticity Management
Clinic and co-director of the Cerebral Palsy
Clinic. Dr. Schwabe is currently participating
in collaborative protocols including the
Acquisition of Gait Data in Children with
Pediatric Movement Disorders, the Rett
Syndrome Natural History Study and
Outcomes in Brachial Plexus Palsies. She
has a clinical and research interest in the
rehabilitation management of various
neurological disorders including the use
of intrathecal baclofen therapy. Karla Anne Trapp, MA, Art Therapist,
has had a private practice in Colorado for
eight years in Art therapy with children.
She graduated from Naropa University
in Transpersonal Counseling with a
concentration in Art Therapy. She has
worked with many child populations such
as abuse and neglect, domestic violence
and attachment issues, as well as autism
and developmental issues. She is also
an illustrator for children’s books and a
freelance artist.
Steve Skinner, M.D. is a pediatrician and
Terry Wise, MA (Special Education and
clinical geneticist at the Greenwood Genetic
Center in Greenwood, S.C. He is a Fellow
in the American Academy of Pediatrics
and the American College of Medical
Genetics. He is involved in the evaluation
and treatment of children and adults with
birth defects, intellectual disabilities and
other genetic disorders. His areas of interest
include intellectual disabilities, autism,
Angelman syndrome, and Rett syndrome.
He has been the Principle Investigator from
the Greenwood Genetic Center for the Rett
Syndrome Natural History Study since 2003.
Dr. Skinner is a member of the RettSearch
Study Group and has co-authored several
articles on Rett syndrome.
Margaret Spring, OTL/R, graduated from
Colorado State University in 2005 with a
Masters in Occupational Therapy. She has
worked with a diverse patient population
including children with cerebral palsy,
Rett syndrome, and spina bifida through
California Children’s Services in Santa
Barbara County. She worked at Kennedy
Krieger Institute in Baltimore, Maryland
with a wide variety of patients with feeding
disorders. She is currently working at The
Children’s Hospital in Denver with patients
with feeding difficulties.
Marilyn (Lyn) Stevenson, RD, CSP
graduated Iowa State University, BS
in Nutrition and Dietetics. Completed
Dietetic Internship University of
Minnesota Hospitals. Board Certified by
the American Dietetic Association as a
Specialist in Pediatric Nutrition. Marilyn
has worked as a pediatric dietitian for
over 25 years at pediatric hospitals in
St. Paul, MN; Columbus, OH; and Denver,
CO. Her area of specialty is working
with special needs children, including
girls with Rett Syndrome. She provides
nutrition consults to families in the
Swallowing Disorders Clinic, Ketogenic
Diet Program, Special Needs Clinic and by
individual appointment. Additionally, she
is the Supervisor of outpatient dietitian
services at The Children’s Hospital in
Aurora, Colorado.
Administration) is a retired Assistant
Director of Exceptional Student Services,
Jefferson County Public Schools, Golden,
CO and Director of Special Programs,
Manitou Springs School District #14,
Manitou Springs, CO, and was a special
education teacher for 15 years. She
has more than 30 years of experience
working with families of children with
disabilities. She has knowledge of civil
rights law for individuals with disabilities
through participation in many conferences
sponsored by Caplan and Earnest, LLC.,
Colorado Department of Education, U.S.
Autism & Asperger Association, Council
for Exceptional Children, and International
Dyslexic Association. She is passionate
about working with families of children
with disabilities and has developed and
supervised programs and programming
for children with Rett Syndrome, Autism,
and Asperger’s Syndrome.
Susan Zimmerman, an internationally-
known speaker, workshop leader, and
consultant, is coauthor of educational
bestsellers Mosaic of Thought and 7
Keys to Comprehension. She cofounded
and served as the Executive Director of
the Denver-based Public Education and
Business Coalition, an organization that
has spearheaded ground-breaking work in
reading comprehension. Susan is also the
author of Grief Dancers, a finalist for the
Colorado Book Award and winner of the
Exceptional Parent symbol of excellence
for its “profound contribution to human
understanding and dignity,” Writing to
Heal the Soul, winner of a Colorado Book
Award, and Keeping Katherine, books that
grew out of Susan’s personal experience
raising her daughter Katherine who has
Rett syndrome. A mother of four, she lives
in the foothills west of Denver with her
husband Paul Phillips.
Hold fast to dreams, for
if dreams die, life is a
broken winged bird that
cannot fly.
—Langston Hughes
Cheyenne Mountain Resort
1
Main Lodge; Dining and
Meeting Facilities
2
Bear Creek Lodge
3
Elk Lodge
4
Buffalo Creek Lodge
5
Dove Creek Lodge
6
Clear Creek Lodge
7
Cripple Creek Lodge
8
Fountain Creek Lodge
9
Quail Creek Lodge
10
Pineview Dining Room
11
Country Club House
12
Golf Pro Shop/Lakeview
13
Golf Snack Bar
14
Racquet/Fitness Center
15
Tennis Pro Shop
16
Indoor Tennis
17
Outdoor Tennis
18
Indoor Swimming Pool
19
Pool Locker Room
20
Adult Pool & Jacuzzi
21
Outdoor Olympic Pool
22
Basketball Court
23
Clay Tennis Courts
24
Special Events Area
25
Pavilion
26
Ropes Course