Spring 2012: Sensory Integration & In the School - CdLS

Reaching Out
The Newsletter of the Cornelia de Lange Syndrome (CdLS) USA Foundation, Inc.
Spring 2012
Highlights
Director’s Message:
Goodbye
Spotlights:
Sensory Integration
In the School: Deaf-
Blindness
Super Siblings:
Tessa and Taylor
Photo by Areti Bratsis
302 West Main Street, #100 Avon, CT 06001-3681 860.676.8166 toll free: 800.753.2357 fax: 860.676.8337 www.CdLSusa.org

Director’s Message
Goodbye
It’s with bittersweet emotions that I announce that I’m leaving the CdLS Foundation after
more than four years at the helm.
As the second executive director the organization has had since it was founded in 1981, I’ve
had the privilege to work with, learn from, and nurture a talented, professional, passionate
team of staff and volunteers.
I’m very proud of the achievements and “firsts” our team has made over the last four years,
including: establishing the 21st Century Conference Fund; raising $1 million dollars in
revenue for the first time; funding the Foundation’s first research fellow; revamping the Web site; creating a CdLS
diagnostic checklist; starting a strategic plan; and translating more than 20 publications into Spanish.
I leave the organization knowing that together we further enhanced the strong foundation I inherited when I first
arrived. I know that our accomplishments at the Foundation have brought families and professionals closer together
striving for a common goal, and that the future for all individuals with CdLS is brighter because I have had the honor
of being the executive director.
Thank you to everyone I’ve worked with who has made this such a rewarding experience.
I’m so grateful for the support of our board, staff, partners, funders, and colleagues. While
I’m looking forward to my new position, I will continue to actively champion and support
the work of the CdLS Foundation.
Our highly engaged Board of Directors has named Marie Malloy (pictured right)—a CdLS
Foundation staff member since 2006 and Assistant Executive Director since 2010 —as
the Acting Executive Director through 2012. Please join me in welcoming her in her new
position and wishing her success as she leads the organization into the future.
Sincerely,
Liana Garcia-Fresher, R.D., M.S.
4
Making Sense of Sensory
Integration in CdLS
In This Issue
5 A Closer Look at Sensory Issues
9
10
Foundation Heroes: Jim K.
Super Siblings:
Tessa and Taylor
6 In the School: Deaf-Blindness
11
Mailbag
7
A Closer Look at
Hearing and Vision Loss
15
Lisa’s Legacy
You’ve probably seen funny looking blocks like
this one on everything from books to orange
juice containers these days. They are called Quick
Response (or QR) codes. If you have a smartphone,
simply download a QR code reader app, scan a
block and you’ll be taken to a Web page—in this
case, the CdLS Foundation Web site.
REACHING OUT
2
www.CdLSusa.org

The Importance of Early Intervention
by Antonie Kline, M.D.,CdLS Foundation Medical Director
Although there is a broad spectrum of abilities
in Cornelia de Lange Syndrome (CdLS), most
individuals have some degree of intellectual disability/
developmental delays. This can range from severe
or profound disability to normal intelligence with
learning disabilities, and anything in between. Early
identification of developmental delays is one of the
most critical aspects of any child’s life, particularly
with an underlying condition.
Mandated by federal law, any individual who is at risk for developmental delays
is eligible for early intervention services provided through each county in the
United States. It was determined in the 1970s that children at risk will have better
outcomes if they have access to these services. By 1980, governmental funding
was well established for birth to age three programs. This was shown to have an
impact: In one of our early studies of CdLS, developmental information was
obtained and reviewed on 122 individuals. Those born before 1980 were found
to exhibit lower intellectual quotient (IQ) scores than those born after 1980.
Early intervention services, which include physical, occupational and speech
therapies done in the home, must be tailored to each individual. Different
strategies are used depending on the degree and extent of the disability. Children
who are nonverbal, with delayed or absent expressive speech (commonly found
in CdLS), need to be taught differently than children with age-appropriate
language skills.
Infants will start with physical and occupational therapy and have speech therapy
added as language starts to emerge. There may be sensory processing issues in
CdLS, possibly more severe in those with higher intellectual function, and all
therapists should be made aware of issues related to any autistic-like behaviors,
which might be present in CdLS.
Areas of strength in learning in CdLS include visual-spatial memory, fine motor
skills, and perceptual organization, indicating that the use of computers, tactile
stimulation and fine motor activities should be stressed in therapy and education.
Augmentative and alternative communication systems have been advancing
and are accepted and approved for classroom use and should be incorporated as
children with CdLS move into the school-aged years and beyond. With a range
of evaluations, approaches and outcomes, these services are the most crucial in
maximizing a child’s full potential in the years before entering preschool and
kindergarten.
Reaching Out
Published Since 1977
(ISSN 1097-3052)
Cornelia de Lange Syndrome
Foundation, Inc.
Incorporated December 1981
email: info@CdLSusa.org
www.CdLSusa.org
BOARD OF DIRECTORS
President. .........Marc Needlman, IL
Vice Presidents.. . . . . . . . . . . . . . . . . . .
. . . . . . . . Eileen Ahearn, M.D., Ph.D., WI
. . . . . . . . . . . . Robert Boneberg, Esq., NJ
. .Kari Cunningham-Rosvik, A.P.R.N, WA
Treasurer ........ Thomas O’Brien, IL
Secretary. ........... Garth Black, PA
Directors......... Michele Ackles, DE
.. . . . . . . . . . . . David Barnes, Esq., NH
. . . . . . . . . . . . . . . .Shelly Champion, MA
. . . . . . . . . . . . . . . . .Catherine Caron, NH
. . . . . . . . . . . Richard Haaland, Ph.D., GA
. . . . . . . . . . . . . . . . . . . David Harvey, GA
. . . . . . . . . . . . . . . . . . Penny Ketchem, PA
. . . . . . . . . . . . . . . . . . . Dianne Lessa, MA
. . . . . . . . . . . . . . Carlos Madrid, Esq., TX
. . . . . . . . . . . . . . .Wendy Miller, Esq., CA
. . . . . . . . . . . . . . . . . . . . . Mary Opitz, TX
. . . . . . . . . . . . . . . . . . . Fran Rissland, GA
. . . . . . . . . . . . . . . . . . . Beth Smisloff, NY
PROFESSIONAL STAFF
ACTING EXECUTIVE DIRECTOR
Marie Concklin-Malloy
MEDICAL DIRECTOR
Antonie Kline, M.D.
DEVELOPMENT MANAGER
Gail Speers
FAMILY SERVICE MANAGER
Deirdre Summa, M.S.W.
FINANCE MANAGER
Kelly Brown
FAMILY SERVICE COORDINATORS
Lynn Audette, M.S.W.
Janette Peracchio, M.Ed.
GRAPHIC DESIGNER/WEB MASTER
Francesca Scognamiglio
OFFICE MANAGER
Sara Gaffney
All information contained herein is for
the reader’s personal interest. Articles on
treatments, medications, or procedures, etc.
are not guides for self-treatment. Questions
should be discussed with your doctor or other
appropriate professionals. The CdLS Foundation
does not endorse any product advertised
and/or mentioned in Reaching Out.
1.800.753.2357
3 Spring 2012

Making Sense of Sensory
Integration in CdLS
By Christine Ackermann, O.T.R./L. and Amy Metrena,
M.S.P.T., CdLS Foundation Professional Development
Committee, and Janette Peracchio, M.Ed., CdLS Foundation
Family Service Coordinator
All of the information we receive about our world
comes to us through our sensory systems. Many of
the sensory processes take place within the nervous system
at an unconscious level; we are not usually aware of them.
Humans have five traditional senses that are used by the
brain to interpret and make sense of the environment;
hearing, vision, touch, taste and smell. Sensory processing
is how one takes input from the environment and their
bodies to determine if or how they need to respond.
Usually the nervous system can automatically filter
out unimportant stimuli and provide enough internal
regulation for the person to maintain focus and attention
in spite of these external influences.
Besides having information from the five traditional
senses, there are two powerful senses of the vestibular and
proprioceptive systems. The vestibular system involves
balance and the sense of movement within the inner
ear, which gives an awareness of where the person’s head
and body are in space. The
proprioceptive system involves
the receptors in the joints and
muscles to determine where
the body parts are and what
they are doing.
Individuals with Cornelia de
Lange Syndrome (CdLS) often
experience different degrees of
difficulty with processing the
information they receive from
these seven senses.
Organization of the sense
systems begin to function very
early in life, even before birth.
The basic senses are closely connected to each other and
they interact with other complex systems of the brain as
development proceeds. This organization of the senses is
termed sensory integration.
REACHING OUT
4
A child with a sensory integrative disorder will show more
than one of the following signs:
• Overly sensitive to touch, movement, sights or
sounds; irritable at being held, avoids certain textures
of clothing and food
• Under-reactive to sensory stimulation; may seem
oblivious to pain and body position
• Activity level that is unusually high or unusually
low; may fluctuate from one extreme to the other
• Coordination problems, which can be seen in gross
or fine motor activities
• Delays in speech, language, motor skills, or academic
achievement
• Poor organization of behavior; impulsive or
distractible
• Poor self concept; avoids tasks that are hard or
embarrassing
Occupational and physical therapy, provided by qualified
professionals who have received post-baccalaureate training
in sensory integration theory and treatment, can help your
child. Your child will be guided through activities that
challenge their ability to respond appropriately to sensory
input by making a successful, organized
response. Therapy will begin with a
sensory profile done by an occupational
therapist (OT) who observes how a
child responds to different stimuli in
his or her environment.
From this information, the OT creates
a “sensory diet” created to meet specific
sensory needs. This diet is a group of
sensory activities used in school and at
home to prevent behaviors that often
accompany dealing with sensory issues.
This diet can be used either with a
strict schedule or at frequent intervals
as needed.
The sensory activities are intended to
help the student obtain the best possible level of alertness
to improve task focus and as strategies to manage stress.
These activities are not to be used as a reward for good
www.CdLSusa.org

ehavior. These activities should be incorporated in the
child’s daily routine. Adults should try to read the student
and provide the sensory diet before the inappropriate
behavior begins. The OT should write this sensory
therapy into the student’s Individualized Education
Program (IEP) each year it is needed. The OT can also
advise and teach parents the therapies to use at home.
Where to find more information:
• The American Occupational Therapy Association,
Inc: www.AOTA.org Phone: 301-652-2682
• Web site: Kinnealey, M., and Miller, L.J. (1993).
Sensory Integration/Learning Disabilities.
http://209.169.7.42/pdf/kinnealey_miller.pdf
A Closer Look at Sensory
Issues
Staci first noticed her son Vinny’s sensory issues when
he was just a newborn. “He did not like to be held and
would always extend and arch away from
me,” she says.
Now age four, his sensory sensitivities
hamper his daily living skills. Vinny
doesn’t like to hold things in his hands, has
difficulty tolerating different food textures
and temperatures and doesn’t like washing
and combing his hair or brushing his teeth,
according to Staci. He also craves a lot of
extra oral stimulation and puts everything
in his mouth, which interferes with school
and home activities, Staci says.
In addition to the oral stimulation
program, the therapist is
introducing a “sensory diet”
that involves working with
Vinny’s hands.
“I’m currently trying a massage
program to his extremities, two
to three times a day at home
and at school,” says Staci. She
hopes this will eliminate the
need of hand over hand work
(when the therapist guides the
child’s hand with their hand
over his/her hand) or use of
a universal cuff (an adaptive
device worn on the hand to hold
items such as utensils, pencils, etc.).
Following through at home is critical, and Staci gets
plenty of help from family members, especially Vinny’s
three older brothers. “Vinny’s brothers are great at finding
new therapeutic ways to play with him and expose him
to different textures, such as sand at the playground and
water in the bathtub. We try to do it in the most natural
way possible.”
Staci says she sees improvement in Vinny’s
sensory issues, although it’s slow and varies
from day to day. It’s the little victories that
make a difference: “I am able to brush his
teeth daily without a fight!”
Vinny (shown in the photos on this page)
has received occupational therapy services
since he was an infant, first through a home based service
and now in school. He currently gets school based therapy
one to two times per week and attends a weekly outpatient
feeding program to help with feeding issues.
Vinny’s occupational therapist is currently working
with him on an oral motor program that gives him an
opportunity to have extra stimulation to his mouth.
1.800.753.2357
5 Spring 2012

In the School: Deaf-Blindness
By Molly Black, Family Liaison, Pennsylvania Training
and Technical Assistance Network (PaTTAN) Deaf-Blind
Initiative
Understanding your child’s vision and hearing loss is an
important first step in working with your child’s teachers
and implementing the modifications that are necessary
to support your child in the classroom.
When a child experiences both hearing and vision loss, it’s
referred to as deaf-blindness. When we think of someone
with this diagnosis, our (mis)understanding often jumps
to thoughts of Helen Keller, who was totally deaf and
totally blind. This is not the case for most people with the
diagnosis. In fact, the majority of individuals with this
label most often have some hearing and vision.
Deaf-blindness is defined as hearing and visual impairment
that causes such severe communication, developmental
and educational needs that the student cannot be
accommodated in special education programs solely for
children with deafness or blindness. Cornelia de Lange
Syndrome (CdLS) is listed among the leading causes of
deaf-blindness.
Common eye conditions in people with CdLS that can
impair vision include blepharitis, ptosis, high myopia
(nearsightedness), glaucoma, amblyopia (lazy eye),
congenital deformities of the shape of the eye, Cortical
Visual Impairment (CVI), and retinal detachment
(sometimes caused by self-injurious behavior).
Hearing loss can be sensorineural, due to a disorder of the
cochlea or the acoustic nerve, or it can be conductive in
nature, related to the sound-conducting mechanisms of
the ear. Conductive hearing loss may be corrected with
surgery.
Individuals with deaf-blindness have difficulty accessing
visual and auditory information in the environment.
Therefore, educators and parents need to know that it
requires special modifications in the home, as well as
school. Curriculum and supports for students need to
go beyond what is typically needed with a hearing or a
vision loss alone.
Typically, when an individual has a hearing loss, his
or her vision becomes the best method for obtaining
information. When someone experiences a vision loss,
we expect his or her hearing to help compensate for
what is not seen. However, when a person experiences a
combined vision and hearing loss, neither sense effectively
compensates for the other.
REACHING OUT
6
Alex, who has mild hearing loss and wears contacts lenses to
assist with vision, worked in the library scanning books. While
this required him to use his vision, it also gave him sight and
sound feedback to stay engaged in the task. Alex has an interest
in books and pictures, and the scanner emits a light and sound
when scanned.
The impact of deaf-blindness on learning cannot be
underestimated. According to Project SPARKLE—a
self-study program that enhances the ability of parents to
fulfill their role in the development of their children—
the following are required to help deaf-blind individuals
succeed:
• Specific modification and supports to learn and
interact with the world
• Glasses and/or hearing aids to make the most of any
vision and/or hearing
• Use of touch, taste and smell to access information
• Ability to communicate in ways besides spoken word
or print, such as gestures
• More time to gather and process information
• Routine and systematic instruction
www.CdLSusa.org

Dr. Antonie Kline, the Foundation’s medical director,
recommends that all children with CdLS be tested for
hearing and vision loss as follows:
• Pediatric ophthalmologic evaluation with cycloplegic
refraction
• Pediatric ophthalmologic evaluation annually if
indicated by findings on first examination
• Audiology testing every two to three years
• Hearing evaluation though otoacoustic emissions
or brainstem auditory evoked response if audiology
is abnormal
In conclusion, have your child’s hearing and vision
tested regularly. If there is a dual sensory loss, contact
your state Deaf-Blind Project. Learn as much as possible
about your child’s condition so that you and your child’s
school team has a true understanding of this “inability to
access information.” Then appropriate modifications and
supports can be put into place and your child can make
progress in school each year.
Resources
Most every state has a Deaf-Blind Project, which
educates school teams and families in supporting
children with deaf-blindness from birth through
age 22.
A Closer Look at Hearing and
Vision Loss
Caitlin was diagnosed as hard-of-hearing shortly after
birth and with low vision when she was five years old.
Despite vision and hearing difficulties, Caitlin, now eight,
(and shown in the photos in this article), does quite well
at home, according to her mom, Sara. “Over time her
familiarity with home and other settings compensates
for her visual and hearing deficits,” says Sara. “She
immediately recognizes when furniture is moved or new
objects are introduced into our living areas.” Sara says
that one of the signs that Caitlin is not feeling well or is
becoming ill is that she has difficulty navigating familiar
settings and bumps into things.
While she is comfortable at home, Caitlin’s limited vision
and hearing becomes apparent when she changes schools
or classrooms. A new classroom presents significant
challenges. “It takes time for her to become familiar with
the new surroundings, and until she has time to explore
and get acclimated, it’s challenging to have her focus on
anything else,” says Sara. “Before the beginning of each
school year, we schedule multiple visits to her classroom
so she can explore the new surroundings.”
Most Deaf-Blind Projects employ family specialists or
family consultants (often parents of children with deafblindness
themselves) who help deliver assistance through
trainings, resources and supports to help school teams
modify curriculum and learning environments. Find your
state’s Deaf-Blind Project office at www.nationaldb.org.
You can find articles about eye conditions and hearing
issues related to CdLS on the Foundation Web site: www.
CdLSusa.org. Go to What We Do, Family Support Services.
Articles and information can be found in both the Ask
the Expert and Publications sections.
In addition to being a family liaison at the PaTTAN Deaf-
Blind Initiative Molly is a longtime CdLS Foundation
Regional Coordinator and mom to Alex, age 20, who has
CdLS.
To help with her hearing difficulties, Caitlin’s teacher uses
an FM system, which enhances the teacher’s voice relative
to background noise in the classroom. “In the past, Caitlin
has not consistently tolerated her hearing aides, but we’ve
noticed great improvement in her keeping them in since
the introduction of the FM system,” Sara says.
continued on next page.
1.800.753.2357
7 Spring 2012

A Closer Look at Hearing and Vision
Loss con’t
When in group settings, Caitlin is usually seated closest
to the teacher so she is able to see and hear what is
happening. Her paraprofessional may also be supporting
Caitlin one-on-one using materials related to what the
teacher is presenting. All activities are presented to
Caitlin within 18 to 24 inches, which seems to be the
appropriate distance given her limited vision at 20/360.
To accommodate Caitlin’s Cortical Visual Impairment
(CVI), her teachers, aides and therapists use a “total
communication” approach; this involves speaking,
signing, use of pictures, buttons, switches, and tactile
objects for communication.
Oh Rats!
If you’re coming to the CdLS Foundation National Family
Conference next month, you’re in for a treat. Tommy and
Melanie—the stars of the book Tommy and Melanie have
Two Pet Rats and One Syndrome—will be on hand. The
duo from Canada has traveled throughout their country
and the U.S. raising awareness of CdLS (which affects
Melanie) and introducing children to the concept of
disabilities and differences.
The brother and sister team will do a presentation twice
during the Friday night ice cream social—and yes, the
rats will be there. All conference attendees will receive a
copy of the book, which Tommy and Melanie will sign.
If you can’t come to conference, be sure to check out
Tommy and Melanie’s story at www.2petrats.com.
Besides receiving support from the CdLS Foundation,
Caitlin’s family is part of their state’s Deaf-Blind Project,
which guided the family to available resources for deafblind
individuals. The Deaf-Blind Project also offers
training classes and seminars, information on available
assistive technology to support Caitlin, and above all,
says Sara: “Support for us to become her best advocates.”
Our Deepest Sympathy
Stephan Knapp
October 14, 1979 - March 5, 2012
Son of Connie and Bob Knapp
309 Chenel St.
Folsom, LA 70437
Azure Haskey
March 17, 2012- April 10, 2012
Daughter of Hope Haskey and Andrew Annese
66 Ford Dr. Waterville, ME 04901
Megan Pointer
December 11, 1984 – March 1, 2012
Daughter of Cheryl Pointer
905 E Taylor Ave
McAlester, OK 74501-3803
REACHING OUT
8
www.CdLSusa.org

Foundation Heroes: Jim K.
For Jim K., hard work has always been a part of his life. So,
working hard to support the Cornelia de Lange Syndrome
(CdLS) Foundation was a “no brainer.”
Jim grew up in St. Louis, MO, and earned a degree in
marketing from St. Louis University. After a short stint in
Rhode Island working
for Owens Corning
Fiberglass, he decided
to go into business with
a high school friend in
1971. These early days
were long, from “five in
the morning to seven
at night, working with
limited capital—only
blood, sweat and tears,”
he says.
Nevertheless, Jim and
his partners never gave
up, and after name
changes, mergers and Jim and his wife, Joyce
acquisitions, their company finally settled as Madison
County Wood Products. It was through one of these
acquisitions that Jim met Doug. Doug would become
Jim’s business partner, friend and his connection to the
Foundation. In 1981, Doug’s wife, Barbara, gave birth to
a daughter, Amber, who had CdLS.
“I remember multiple trips to the hospital to visit and
support the family. At that time, doctors were slow to
diagnose Amber’s condition,” says Jim. “There seemed to
be very little information out there and the doctors were
not familiar with the syndrome.”
In 2010, he accompanied Doug to the CdLS Foundation
National Family Conference in Dallas. He says it was
there that he learned even more about the struggles
and frustrations many CdLS families face. He was able
to see firsthand that the sacrifices his friends make for
their daughter, are the same sacrifices being made by all
parents of children with CdLS. Jim realized that “any help
we can provide to support them in their journey is very
worthwhile.”
Even after all of his
dedication, Jim is humbled
by his friends. “Barb
and Doug have been an
inspiration to anyone that
has been around to witness
the love and personal
responsibility they have
accepted to take care of
Amber,” he says.
This feeling is heightened
for Jim, as he does not have
a child with CdLS. “Having
two healthy kids and five
grandkids makes me realize how blessed we have been.
I would love to see more commitment from outsiders,
only because I know the challenges and time constraints
of parents of children with CdLS.”
Although Jim describes himself as an “outsider,” his hard
work and commitment has made him an integral part
of the CdLS family, and we are fortunate to have his
unending support.
After attending a CdLS Foundation fundraiser in the
late 1980s, Jim committed to helping the Foundation,
and in 1988, Madison County Wood Products held its
first golf tournament. It has been an annual event ever
since. Over the years, this event has raised more than
$550,000—helping make golf tournaments one of the
Foundation’s most successful fundraisers.
In addition to helping spearhead the golf tournament,
Jim sits on the Foundation’s Development Committee.
Jim at the annual golf event
1.800.753.2357
9 Spring 2012

Super Siblings: Tessa and Taylor
Six Questions for Tessa
Tessa N. from North Dakota started baking cookies
to benefit good causes when she was just 11. Now, a
20-year-old college student, Tessa reflects back on life
with her brother Taylor, 23, and what inspired her to bake
thousands of cookies over the years in honor of him and
all people with CdLS.
1) What is your relationship with Taylor like now and
over the years?
Because Taylor was
so small and slow
to develop, my poor
parents had two
difficult babies on
their hands after I
was born, but by
the time I was about
three, I had taken on
more of a caretaker
role than a little sister
role, and that has
continued since.
I felt, and continue to feel, very responsible for Taylor’s
wellbeing, not because my parents put any pressure on
me to feel that way, but because he is such a joy in my
life, and I can’t imagine not wanting to make his life as
wonderful as he has made mine.
3) How did you come up with the bake sale idea?
The summer after fifth grade, I saw an advertisement
for the Great American Bake Sale, which raises funds
for children in the United States who are suffering from
hunger. I love to bake, and it seemed like the perfect
way to use my interests to give back. I held the bake sale
for two years when I decided to give the proceeds to the
CdLS Foundation.
Last summer, I held my eighth bake sale, after missing
one summer in high school. The change from the first
year, with a little card table
in the front yard with some
cookies and bars and total
earnings of about $350, to tents
and many, many tables (still in
the front yard), neighborhood
involvement, and total earnings
of more than 10 times that, is
exciting for everyone who has
been involved.
4) What did your parents
think when you told them you
wanted to do the bake sale?
My parents have always been so supportive of everything
I’ve wanted to do, no matter how crazy my ideas are. There
is no way I could have done the bake sale without them.
My mom helps me bake and clean (which is the worst
part, obviously), and my parents’ donation to the sale has
always been to buy the groceries, which is a huge help.
2) When did you realize he was different from you?
From the very beginning, my mom and dad taught
us (Tessa has two other brothers and a foster-sister) all
about CdLS, and taught us tolerance and acceptance
of differences, patience, and understanding. I always
knew Taylor had special needs, and I also always knew
that my parents were available for me to come to with
any questions I had about what made him different. My
parents never tried to pretend that taking care of Taylor
was a breeze or that it wasn’t hard to manage a lot of times,
but still, without neglecting my own needs as a child, they
taught me by example that caretaking was not a burden,
but a blessing. I was so fortunate to learn the value of
taking care of others from them.
REACHING OUT
10
5) How many cookies do you think you’ve baked over
the years?
I can’t even give you a rough estimate! Thousands and
thousands.
6) What do you want people to know about Taylor?
Taylor can’t be accurately described if he is only viewed
in terms of his disability. For those who know him, it’s
his abilities that make him who his is: his ability to make
us smile, to find joy in something as small as a bluegrass
song or a church directory, to win over everyone he meets
just by flashing his dimples. At the same time, CdLS is an
important part of who he is, and even with some of the
challenges that CdLS presents, our family would never
ask for anything different.
www.CdLSusa.org

Mailbag
– Gracey Belle –
Dear Reaching Out,
Gracey Belle has always struck us as unique. She is also
amazing and so funny and tough and very smart. She is
the cutest little thing,
and we are so blessed
to have her and our
other sweet daughter,
Hope.
At 20 weeks pregnant,
we were told that
Gracey’s heart and
brain measurements
did not fall within
normal range. These
concerns were eventually relieved, to be replaced by others
after she was born. It seemed that Gracey Belle was always
sick and she had unique issues, like extreme acrocyanosis.
Her limbs would turn blue, purple, even the color of
charcoal at times. She struggled with a bit of reflux. She
didn’t babble like other little kids her age.
We saw these and other issues all as just little quirks. Our
doctors had always seen something in Gracey Belle that
we didn’t. They strongly urged us to see a geneticist. We
just didn’t see anything wrong and maintained that she
was perfect. She is perfect, by the way.
It was eventually clinically diagnosed that she has mild
CdLS. She takes some daily meds for her reflux. She
got tubes in her ears that helped eliminate some of her
illnesses. She has four therapists (speech, occupational,
physical, and developmental) and she has flourished with
them. She is babbling and constantly surprising us with
new words. She is the happiest little girl we’ve ever met.
She takes joy in the little things and is so fun. She has a
wonderful big sister and extended family that can’t get
enough of her. The process of getting the diagnosis was
hard, and though it was tough at first, we bounced back
pretty quickly. There was a peace in getting an answer after
always having felt that she was fragile and that something
unknown was going on.
1.800.753.2357
We want to offer encouragement to others in this situation.
The shock and fear brought on by initial research can hit
hard. There are wonderful stories out there as well. We
have and will always fight for our daughter, and as she
grows she is quite the fighter herself. We are so very
blessed. We are so thankful for the help we’ve received
along the way. We wouldn’t change a single thing about
her. She is going to blow people away, showing all the
amazing things that children with CdLS can achieve.
Ginger, Gracey Belle’s mom
Illinois
Submit your Mailbag or
Super Siblings Story!
Send your story and photo to
communications@CdLSusa.org.
WELCOME NEW FAMILIES
California
Abigail and Kathleen and son,
born November 7, 2011
Illinois
Julia and Zach and
son Benjamin,
born October 6, 2011
New Jersey
Karla and Manuel and
daughter Krysmary,
born January 18, 2006
South Carolina
Carrie and Robbie and
daughter Albree,
born March 27, 2011
Texas
Norma and Victor and
daughter Esmeralda,
born December 8, 1998
Virginia
Sarah and Eric and son Micah,
born December 30, 2011
Wisconsin
Deb and daughter Josephine,
born April 22, 1998
11 Spring 2012

Choice-Challenge-Community:
A Checklist to Success
Can you check these boxes or know someone who can?
q Choice: I want to run for something other
than myself.
q Challenge: I want to set my own distance
and pace.
q Community: I want to be inspired by others.
Many runners say that running has
changed their lives. Team CdLS runners
say that they have changed the lives of
others. Whether you run short distances
for pleasure or are an experienced
marathoner, Team CdLS offers a range
of opportunities. Races range in length
from 5Ks to full marathons, including the
world-renowned Bank of America Chicago Marathon (we
still have bibs for this closed out event) and the coveted
ING New York City Marathon.
Tag the Day Any Day This
Summer for the Foundation
Clean out your closet for a
great cause. Host a Yard Sale
Across America event anytime
this summer to benefit the
CdLS Foundation. Get your
neighbors, friends and relatives
involved by asking them to donate items to your yard
sale or volunteer their time to support the Foundation.
The Foundation has a free Yard Sale Across America Kit
that has everything you need, including tips to make
your sale a success.
Put this event on the top of your summer “to-do” list.
Questions? Contact Sara at specialevents@CdLSusa.org
or 800-753-2357.
Not a runner? You can help the CdLS Foundation recruit
runners for its 2012 races (see event calendar on page
13) by posting information on your workplace Intranet,
bringing brochures to area running clubs, and sharing info
via your Facebook and/or Twitter accounts.
nsform. Soar.
ational Family Conference 2012
Contact Gail at events@CdLSusa.org or 800-753-2357
for information on joining or helping Team CdLS.
Grow. Transform. Soar.
CdLS Foundation National Family Conference 2012
2011 Yard Sale Across America participants
Th e
Butterfly Gallery
Color the walls with wings.
Dedicate a butterfly on behalf of someone you love, to be showcased at
the CdLS Foundation National Family Conference this summer. What
better way to let your loved ones know they make your heart soar, than
by giving them wings at this magical event.
You can choose from three different butterfly sizes:
Skipper, $25 (small), Monarch, $50 (medium) or Emperor, $100 (large).
Tell us whose name to write on it (one name per butterfly please) and
your butterfly will appear with others on a wall of wings at conference.
All money raised supports the event, taking place June 21-24 in
Lincolnshire, IL.
To purchase your butterfly, call 800-753-2357.
Grow. Transform. Soar.
CdLS Foundation National Family Conference 2012
REACHING OUT
12
www.CdLSusa.org

Event Recap
DivaDance
DivaDance is competition
with a cause. Event creator
Kym, whose son Jack has
CdLS, was able to pair
her dance experience with
support of the CdLS
Foundation. The dance
contest donates a portion
of the proceeds from each event to the Foundation. In
March, DivaDance Competition held its first event
in Burlington, VT.
Events followed in
Milford, CT, in April
and West Springfield,
MA in May.
Leaps of Love
Students at the School Age Connections program
of the River Valley Child Development Services in
Huntington, WV, listen to Leaps of Love for Alex, the
story that accompanied the fourth national Leaps of Love
fundraiser in February.
2012 CALENDAR
May 21
20th Annual New England
Golf Tournament
Ipswich, MA
June 16
Kristian’s Bowl for CdLS
Melody Lanes
Madisonville, KY
June 20
CdLS Foundation Golf Tournament
Crane’s Landing
Lincolnshire, IL
June 20-21
CdLS Foundation Scientific &
Educational Symposia
Lincolnshire Marriott Resort
Lincolnshire, IL
June 21–24
CdLS Foundation National
Family Conference
Lincolnshire Marriott Resort
Lincolnshire, IL
July 14
Lapel Village Fair
CdLS Benefit 5K
Lapel, IN
July 15
Merrell Down & Dirty in Philly
5K and 10K off-road course
Philadelphia, PA
August 11
Dash for the Duke at the New
England Spartan Sprint
Amesbury Sports Park
5K obstacle run
Amesbury, MA
September 15
3rd Annual Brew & BBQ
Atlanta, GA
September 15
Midwest Family Gathering
North Platte, NE
September 16
The Saratoga Palio
5K and half marathon
Saratoga Springs, NY
September 16
Maddy’s Run 5K
Salt Lake City, UT
October 7
Bank of America
Chicago Marathon
Chicago, IL
October 8
24th Annual CdLS Charity
Golf Tournament
Pevely Farms Golf Club
St. Louis, MO
October 13
ING Hartford Marathon,
5K and half marathon
Hartford, CT
October 13
Baltimore Running Festival
5K, half marathon and
marathon
Baltimore, MD
1.800.753.2357
13 Spring 2012

Donations from 12/25/2011- 3/31/2012
Gifts that Count -
In Honor/Celebration
Alexys Spencer
Veja Tillman
Andrew and Keeley Pacheco
Dorothea L. Baretto
Annie Beaumont’s 9th Birthday
Rita Deck
Ardenly Ulloa’s 1st Birthday
Leander F. Aulisio
Merina Djuwita
Lisa H. Ernest
Mursidah and German Jordan
Mr. and Mrs. Phu Le
Ms. Deborah Lobo
Evianty Quinones
Rita Rawlings
Amanda Rodriguez
Mr. Antonio L. Samuel
Mrs. Katherine E. Shoffner
Mr. and Mrs. Michael J. Smet
Endang S. Suryaningsih
Ms. Sandra M. Ulloa
Mr. and Mrs. Eduardo Ulloa
Barbara and Norm Winnerman’s
Birthdays
Mrs. Anne Cahn
The Barone Family
Mr. and Mrs. Michael H. Schoen
Breeze Davis
Mr. Brett Davis
Bradley A. Warble
Brenden Keating
Karin Csolty
Caitlynn Jacobsen
George Jacobsen
Carlee Nash’s Birthday
Kim and John Biles
Mr. and Mrs. John W. Biles, Sr.
Mr. and Mrs. Mark A. Blackburn
Mr. and Mrs. Joe S. Botha
Sue W. Carter
Mr. and Mrs. Jeff Gish
Sherry Hatch and S. T. Hatch
Mr. and Mrs. Erick Nash
Melissa Orr and Gary A. Orr
John and Peggy Peeler
Cassandra Thompson
Mr. and Mrs. Hugh B. Maness
Charlie Keithley
Mr. and Mrs. John P. Abell, III
Conrad Hersberger’s Birthday
Laura and Michael Doyon
Daniel Ulloa
Mr. and Mrs. Eduardo Ulloa
Devin Miller’s 22nd Birthday
Mr. and Mrs. Dean A. Miller
Ellen Braverman and Robert
Fishel’s 25th Anniversary
Anonymous
Anonymous
Elizabeth Bruen
Michelle Levister
Emma Giberson
Mr. and Mrs. Jeff Giberson
The Fowler Family
Mr. and Mrs. Douglas M.
Fleming
The Fresher Family
Pat and Ron Nelson
Grace Duke
Alison C. Duke
Hannah Ashley Kimball’s 15th
Birthday
Deborah and Max Kimball, Sr.
David Lewis
Jack Barnes’ Birthday
Valerie Barnes
Jessica Smith
Lisa and Roscoe Marter
J.T. Picazio’s Birthday
Ellen and Victor Smith, III
Kamren Dennis
Mr. and Mrs. Robert Coleman
Keel C. Salmons
Sue Salmons
K.J. Rowe
Susie and Michael Hinchcliffe
Jerry Peterson and Mary Kaye
Leonard Mager’s Speedy
Recovery
Lois F. Braverman
Lilly Choong’s Birthday
Marjorie and Mark George
Manny Tutuer’s Birthday
Mr. and Mrs. Michael Friedman
Mr. and Mrs. Marc Needlman
Marc Needlman
Stacey Simmons
Matthew Chevrette, in honor of
Ben and Scott on their
wedding
Lori and Michael Chevrette
Meg Tharpe’s 75th Birthday
Anonymous
Michael Friedman’s Birthday
Ellen Braverman and Robert
Fishel
Howard Braverman
Mr. and Mrs. Marc Needlman
Mikayla Needlman
Ms. Margaret A. Sliwa
Beth S. Kon
Mike Austin
Judith G. Stilwell
Mindy Webb
Catherine Webb
Myrna Kaplan’s Birthday
Diane Miller
Nicholas Kalb
Stacey Bridgeford
Nicole Miller’s Birthday
Sharon G. Flynn
Mr. and Mrs. Jim Miller
Susan and Allen Terhune
Phyllis Needlman’s Birthday
Mr. and Mrs. Marc Needlman
Rebecca Davis
Nancy and Stephen Bernard
Reese Rissland’s 4th Birthday
Anonymous
Riley Rissland’s Birthday
Shane Blaiss
The Rissland Children’s
Birthdays
Judy Baker
Sarah Suttmann
Ann and Frank Heile
Scott Elphingstone
Mr. and Mrs. William S.
Elphingstone
Stelios Bardis
S Calzati
LaToya Graham
Thomas Russo
Ronda E. Matarese
Victoria Travers
Eleanor Travers
Vivian Comeau
Tracey Maguire
Will and Hope Kurth
Sharon K. Blomme
Gifts that Count -
In Memory
Alison Wells
Mr. and Mrs. Norm Winnerman
Allison Tryba
Susan and Lyle Tryba
Anna Gonella, in honor of
Michael Gonella
Donna Bielenberg
Mr. and Mrs. Peter C. Bistolfi
Douglas Brown
Mr. and Mrs. David Colelli
Patricia and Aldon Daniels
Carolyn and Craig Erwin
Susan and Raymond Molinari
Mr. and Mrs. Robert V.
O’Brien, Jr.
Diane O’Neill
Susan and Louis Pastorini
Barbara Reilly
Mr. and Mrs. Henry S. Serata
Amy and Frank Takemori
Shirley Trapani
Pat Yanagi
Annisa Putri Binti Asikin
Merina Djuwita
Antonio Peracchio
Rina Bigotto and John C.
Bigotto
Azure Haskell
Board and Staff of the CdLS
Foundation
Bernard Peters
Elizabeth and Mark Burnett
Diane Miller
Clara Noll
Jean A. Houser
Dorothy Nelson
Angeline S. Pappas and Kay
Brown
Elaine Marie Kalina
Angeline S. Pappas and Kay
Brown
Emily K. Johnson
Nancy Kear Johnson & Eric
Johnson
Eric Sagritalo
Mr. and Mrs. Gualberto M.
Sagritalo
George Bourdamis
Angeline S. Pappas and Kay
Brown
George Carter
Tina Teza
Vector Aerospace - Alabama
Vector Aerospace - Canada
George Psihos
Angeline S. Pappas and Kay
Brown
Helen Ruth Wilson
Mr. and Mrs. William J. Fielder, III
Isabel Eva Calof Lander
Anne Calof and Arthur Lander
Jack “Zack” Brigham III
Jack F. Brigham, II
Jarryd David Fierro
Rosa C. Banuelos
Teresa C. Fierro
Mr. and Mrs. Larry Prada
Jay Bishov
Mr. and Mrs. Marc Needlman
Jennifer Rebenack
Mr. and Mrs. Floyd M. Coody
Michelle Rebenack
Jeremiah Caudillo
Mr. and Mrs. Stephen H. Gersuk
Joey Haaland
Dianne and Richard A. Haaland
Kay Linn
Angeline S. Pappas and Kay
Brown
Kendra Jenkins, in memory of
Annabelle Collins
E.B. Stanley Middle School
Liddy Horsey
Mary and Robert Geis, Jr.
Patricia Horsey
Matthew Huss
Jeff Byars
Nicholas Detweiler
Sharon and James Detweiler
Nick Pappas
Angeline S. Pappas and Kay
Brown
Robert Castle
Angeline S. Pappas and Kay
Brown
Robert Nolan, in honor of
Corey Beach
Laura L. Cheesebrew
Mr. and Mrs. Thomas E. Haines
Rev. and Mrs. Paul E. Klopfer
REACHING OUT
14
www.CdLSusa.org

Scott Tyner
Dolores and Donald Sandaal
Stephan Knapp
Mr. and Mrs. Robert L. Knapp
Mr. and Mrs. Jim Krimpenfort
Board and Staff of the CdLS
Foundation
Virginia Rodgers in honor of
Matthew Rodgers
Mr. and Mrs. William J. Andrews
Cecelia Andrews
Mr. and Mrs. Roger D. Kraft
Mr. and Mrs. Gary D. Kraft
Constance Ladd
Mr. and Mrs. Dale K. Rodgers
Sandra I. Rohrbach
Mr. Donald A. Schreib, Sr.
Mrs. Cynthia A. Stage
Mr. and Mrs. Jerald F. Wirzman
Wendell House
Arkansas State Treasury
Bank of Delight
Mrs. Linda Austin
Mariann S. Clark
Carolyn and Loyd Graham
Wanda Harris
Amy Harrod
Mike Hatley
Mr. and Mrs. Winston Horton
Mrs. Dorothy Hughes
Karan Hughes and Randy
Hughes
Duane Jackson
Mr. and Mrs. Scott Kelton
Amanda Lamb
Audy H. Neal
Why does the center exist? It exists to provide families with
an opportunity to have their child treated and evaluated at
a place from where they will return home with a plan of
care for their local doctors and a lifelong medical resource
that is just a phone call away.
Thanks to the generosity of CHOP and the center’s
founding families, funding is now in place to ensure
that the center continues to exist as a permanent place
committed to the well-being of people with CdLS. That’s
because in March, the Board of Trustees of the hospital
approved the creation of the Cornelia de Lange Syndrome
and Related Diagnoses Endowed Fund. This fund serves
as a perpetual source of funding.
Lisa’s Legacy
By Julie A. Mairano, CdLS Foundation Director Emeritus
What do you wish for the person you love with CdLS? If
your wish includes an accurate diagnosis, a connection
with CdLS experts to manage care, and the opportunity
to participate in research, your wish is accessible through
the Center for Cornelia de Lange Syndrome and Related
Diagnoses at Children’s Hospital of Philadelphia (CHOP).
Opened in 2009, the center provides clinical care to
children and adults with CdLS and related diagnoses
and their families. During a visit, individuals see a
geneticist, gastroenterologist, developmental pediatrician,
and physical therapist. Based on the patient’s needs,
appointments with other specialists are made.
What is your dream for the child in your life with CdLS?
My dream was that one day such a center for all people
with CdLS would exist. The creation of this center has
been my dream come true. It is the reason I retired from
the Foundation and it is my hope that it will become a
lasting legacy that honors my daughter, Lisa, as well as the
children of the families who provided support.
For more information, call the center at 215-590-2931
or email ian2@mail.med.upenn.edu.
Our Mission
The Cornelia de Lange Syndrome Foundation is a family
support organization that exists to ensure early and accurate
diagnosis of CdLS, promote research into the causes and
manifestations of the syndrome, and help people with a
diagnosis of CdLS, and others with similar characteristics, make
informed decisions throughout their lives.
Yes, I want to help people with CdLS.
Enclosed is my tax-deductible gift of:
‪ Other $ ‪ $500 ‪ $250
‪ $100 ‪ $50 ‪ $35
‪ I have included the CdLS Foundation in
my will or trust
Please remember the CdLS Foundation in your will.
‪ Please Charge $ _________ to my credit card
‪ Once ‪ Monthly for ________months
Charge my gift to: ‪ VISA ‪ MC ‪ AMEX
Card #: ___________________________________
Expiration: ________ Security Code: ___________
Print name on card: __________________________
Signature: __________________________________
Email address(es): ___________________________
Donate online at www.CdLSusa.org.
One hundred percent of your contribution is tax deductible.
1.800.753.2357
15 Spring 2012

Cornelia de Lange Syndrome Foundation, Inc.
302 West Main Street, #100
Avon, Connecticut, USA 06001
Return Service Requested
NON-PROFIT
U.S. POSTAGE
PAID
HARTFORD, CT
PERMIT NO. 751
During 2012, your gift to the 21st Century
Conference Fund will be matched by an
anonymous donor. That means every dollar
you give becomes two.
Please take advantage of this opportunity
to help the Foundation make twice the
progress toward its goal.
Here’s how:
Online: Go to our secure Donate page and choose
Match it! as your donation type in the drop down
menu.
Mail: Send a check to the CdLS Foundation at
302 West Main St., #100, Avon, CT 06001.
Be sure to write Match it! in the memo line.
Phone: Call 800-753-2357 and use your credit card