Fall 2012 - CdLS

Reaching Out 

The Newsletter of the Cornelia de Lange Syndrome (CdLS) USA Foundation, Inc. 

Fall 2012 

Highlights 

Director’s Message: 

Making Your Opinions 

Our Reality 

Spotlights: 

Research Updates 

CdLS and Autism 

Super Siblings: 

Rich and Joseph 

Photo by Rick Guidotti 

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 

Making Your Opinions Our Reality 

The CdLS Foundation began a strategic planning process earlier this year to identify its 

direction and focus over the next three years. At the core of this process was finding out 

what you—our families and professionals—wanted. 

After interviewing past and present leaders, volunteers and board members, then surveying 

parents, relatives and professionals, five areas of focus were formed: 

• Improve awareness of CdLS 

• Make clinics for all ages more accessible 

• Provide more opportunities for personal interaction for all ages and all abilities on the spectrum 

• Increase funding for basic science, educational and clinical research 

• Build a strong, sustainable infrastructure through increasing and diversifying revenue 

Input on these five areas was then gathered at the 2012 National Family Conference during two focus groups of families 

and professionals. 

The culmination of this six-month project was 10 objectives, some of which include: 

• one additional Foundation sponsored family gathering per year over the next three years, for a total of eight 

annually; 

• additional multi-disciplinary clinics; 

• annual research funding with at least a portion of the funds going to a new researcher when possible; 

• an exhibit at one or more professional conferences per year, such as the American Academy of Pediatrics. 

Staff will be moving forward with these projects and others over the next several years. Some will be implemented as 

soon as this coming year, such as a sixth family gathering, targeted outreach to professionals and additional online 

learning modules. 

Throughout this process, the Foundation depended on your involvement to strategize a plan that would impact its 

future—and your child’s future. Thanks to everyone who shared ideas and comments during the process. We could 

not have done it without you. 

Marie Concklin-Malloy 

Acting Executive Director 

4 

5 

Research Updates 

CHOP Researchers Busy on 

Several Research Fronts 

In This Issue 

10 

11 



Mailbag 

6 Similarities and Differences of 


12 

Dress Down for CdLS 

7 

A Closer Look at 

Autism 

13 

Team CdLS 2012 Recap 

8 

HDAC8 FAQ Sheet 

16 

Ask the Expert: What You 

Want to Know 

REACHING OUT 

2 

www.CdLSusa.org

An Update on the Genetic Causes of CdLS 

By Antonie Kline, M.D., CdLS Foundation Medical Director 

In 2004, the news that “the” Cornelia de Lange Syndrome 

(CdLS) gene had been discovered was very much 

welcomed, following years of searching and many families 

donating blood samples towards this cause. 

Now, eight years later, the picture seems much more 

confusing. Despite the knowledge of the most recently 

reported fourth CdLS gene (HDAC8) and another closely 

related gene (RAD21), the percentage of people with CdLS 

having detectable changes (mutations) on testing remains under 70 percent, and 

the diagnosis is still made clinically. You may ask, “How can this be?” 

We now know that CdLS is caused by changes in genes related to the formation 

and function of the protein cohesin, which is actually a protein complex made 

up of many sub-parts. Cohesin itself is extremely important, not only in the 

developing embryo and fetus, but also in all humans after delivery, both in cell 

division and repair and in gene regulation. Cohesin is loaded onto half of each 

chromosome, or sister chromatids, prior to cell division, via a loading protein, 

coded for by the gene NIPBL, which was the first gene discovered and the most 

commonly detected (in about 60 percent of all individuals with CdLS). 

Core components of the cohesin ring, formed around the sister chromatids, are 

coded for by the genes SMC1A and SMC3, accounting for five percent and less 

than one percent respectively, of the mutations detected in all individuals. Two 

more recently discovered genes also involved in the cohesin complex are RAD21 

and HDAC8, again each accounting for less than one percent and five percent 

respectively in all individuals tested for CdLS. 

RAD21 is also a core component of the cohesin ring and HDAC8 helps stabilize 

the cohesin complex. As more genes related to CdLS are detected, we will gain 

a better understanding of cohesin, how it works and how it affects pathways in 

the cell. 

If functioning improperly, many important cell functions cannot be carried out. 

If unable to function at all, the individual cannot survive. It is likely that the 

most severe mutations are not viable at birth, but rather are lost prenatally. Less 

severe mutations cause delayed or abnormal function of cohesin. 

Clinical testing is recommended for individuals whose parents may wish to 

undergo prenatal diagnosis for future pregnancies by testing for a specific mutation 

(possible only if the mutation can be detected in an older child with CdLS), or 

in individuals who are less typical. On page 8 is a fact sheet on the new gene, 

HDAC8, along with additional information on testing. 

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 Churchman, DE 

.. . . . . . . . . . . . David Barnes, Esq., NH 

. . . . . . . . . . . . . . . .Shelly Champion, MA 

. . . . . . . . . . . . . . . . .Catherine Caron, NH 

. . . . . . . . . . . Richard Haaland, Ph.D., GA 

. . . . . . . . . . . . . . . . . . . David Harvey, GA 

. . . . . . . . . . . . . . . . . . . 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 

COMMUNICATIONS COORDINATOR 

Brenda Shepard 

DEVELOPMENT COORDINATOR 

Kellie German Santiago 

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 Fall 2012

The Science of Sleep 

Disturbances in CdLS 

By Stacey Ishman, M.D., M.P.H., Johns Hopkins Medical 

Center and member of the CdLS Foundation Clinical 

Advisory Board 

Studies show that one to four percent of children in the 

general pediatric population have moderate to severe sleep 

disordered breathing (SDB); however, sleep disturbance 

is not well characterized in Cornelia de Lange Syndrome 

(CdLS). 

In 2010, we surveyed the caregivers of 22 patients 

with CdLS using three validated sleep questionnaires: 

Pediatric Sleep Questionnaire (PSQ), Pediatric Daytime 

Sleepiness Scale (PDSS), and OSA18. These use a number 

of questions to measure symptoms of sleep disordered 

breathing, daytime sleepiness, snoring, and inattentive/ 

hyperactive behavior. 

Results of the study illustrated that 35 to 36 percent of 

those with CdLS had symptoms consistent with SDB; 

while, 23 to 36 percent of participants were characterized 

as “sleepy.” 

Previous evaluations of individuals with Smith-Magenis 

Syndrome, who have similar levels of self-injurious 

behavior and intellectual disability, suggest there is a 

correlation between sleep disturbance and insomnia or 

circadian rhythm disorders. 

In 2012, we collated the results of a sleep history 

questionnaire completed by the caregivers of 31 patients 

with CdLS to assess the prevalence of insomnia or 

circadian rhythm disorders. 

The results showed that the CdLS study population had 

significant difficulty falling asleep (75 percent pediatric, 

33 percent adult) and difficulty staying asleep (52 percent 

pediatric, 33 percent adult). 

The data suggests that individuals with CdLS have a 

predisposition towards insomnia and circadian rhythm 

disorders; however, more study is necessary to better 

characterize the relationship between sleep disturbance 

and CdLS. 

To further characterize this relationship, we are currently 

asking caregivers of patients with CdLS to complete a 

REACHING OUT 

4 

survey that more specifically looks at these symptoms. 

It is available online at: http://bit.ly/Mztf97. We are 

also collecting sleep studies already carried out at home 

institutions. 

For a paper copy, email researchsleep@gmail.com. 

Research Holds 

Promise for 

Treatments 

By Julie Woodman, Ph.D. Candidate, 

University of Colorado 

In patients with Cornelia de Lange Syndrome (CdLS), a 

protein called NIPBL is frequently damaged. My research 

focuses on furthering the molecular characterization of 

NIPBL to understand how a defective version of this 

protein can lead to the developmental problems observed 

in people with CdLS. 

Because the NIPBL protein is so similar in humans 

and other simple organisms, I have been able to study 

the function of this important protein using baker’s 

yeast as a model system. I have found that NIPBL’s 

yeast counterpart, Scc2, is chemically modified by 

phosphorylation, which has been known for many years 

to affect the functions of proteins. 

From my research, I determined that this modification 

protects Scc2 from being cut, or cleaved, so that it can 

bind DNA, where it interacts with other proteins to carry 

out its critical function. 

By gaining insight to this complicated process, I can 

begin to understand how CdLS originates. It is my hope 

that with this newly acquired information, I will identify 

factors that contribute to onset of the syndrome and 

explore the possibility of treating and preventing CdLS 

itself, rather than its symptoms. 

Julie Woodman was a recipient of a 2011 CdLS Foundation 

small grant. Her research project, “Molecular Origins and 

Mechanisms of Cornelia de Lange Syndrome,” aimed to study 

the underlying mechanisms involved in targeting cohesin to 

particular regions of the chromosome. 


CHOP Researchers Busy on 

Several Research Fronts 

By Ian Krantz, M.D., Director, Center for Cornelia de Lange 

Syndrome and Related Diagnoses, Children’s Hospital of 

Philadelphia, and member of the CdLS Foundation Clinical 

Advisory Board 

Through work with a large number of colleagues and 

collaborators, our team here at CHOP continues to 

develop its strong focus on understanding the molecular 

and clinical aspects of CdLS. 

This work is supported by a grant from the National 

Institutes of Health in collaboration with Dr. Dale Dorsett 

at Saint Louis University School of Medicine and Drs. 

Arthur Lander and Anne Calof at University of California, 

Irvine, as well as support from endowed funds here at 

the CHOP Center for Cornelia de Lange Syndrome and 

Related Diagnoses and grant funding from the CdLS 

Foundation. Here is an update about where we are with 

research and where we are hoping to be in a few years. 

Identification of the underlying molecular etiology 

of the CdLS 

Our group at CHOP has identified and characterized 

several genes that are causative of CdLS when mutated, 

including NIPBL, SMC1A, SMC3, RAD21 and HDAC8. 

Still, approximately 35 percent of individuals with CdLS 

don’t have a mutation in any of those genes, which 

indicates that there are more genes to be found. 

All of the genes found to date are active in the structure 

or regulation of the cohesin complex. Cohesin has many 

functions, but its role in CdLS is as a “master switch” that 

regulates the turning on and off of many downstream 

genes. When cohesion is not functioning correctly, 

these downstream genes are dysregulated and lead to the 

constellation of symptoms we see in CdLS. 

We are looking for additional genes that cause CdLS, as 

well as characterizing the downstream genes dysregulated 

when cohesin is not functioning properly. These 

discoveries will hopefully lead to a detailed understanding 

of how these differences cause the individual features that 

we see in CdLS and ultimately lead to the development 

of targeted therapeutics for the syndrome. 

Developing a Drosophila model of CdLS 

The first step in testing any potential therapeutic agents 

is to develop an animal model of CdLS that can be used 

to rapidly assess the effects of treatments. Cohesin defects 

in Drosophila (fruit flies) have been well studied, most 

notably by Dr. Dorsett. We are finding both structural 

and learning differences in flies with cohesin changes 

similar to those seen in people with CdLS. These flies 

provide an invaluable tool to assess the efficacy of potential 

treatments for CdLS. 

A human cellular model to study CdLS 

A major breakthrough in stem cell research has increased 

our ability to understand the effects that mutations in 

cohesin genes have on human cells during early stages of 

embryonic development. 

We can now take cells (typically skin cells) from an 

individual with CdLS and reprogram these cells to dedifferentiate 

back to a stage (called “pluripotent”) so that 

we can induce them to become different cell types, such 

as early heart cells or early brain cells. This powerful new 

methodology will allow us to examine what is happening 

at the very early stages of the development of cells and 

tissues that go on to form our organ systems. This 

provides a much more direct window into understanding 

which genes are turned on or off inappropriately during 

development. 

Our hope is to identify specific targets for therapeutics, 

as well as to have a human cellular model system to see if 

candidate therapeutic drugs have an effect in normalizing 

this on/off pattern of gene expression. 

Clinical research 

Here at CHOP, there are many projects working to 

understand the clinical issues faced by individuals with 

CdLS and to improve our ability to more effectively 

manage these issues through their lives. 

We have ongoing studies to understand a multitude 

of clinical aspects, including prenatal features, 

congenital heart defects, immune functioning, platelet 

abnormalities, cognitive functioning and autism, 

hearing loss in CdLS, and causes of morbidity and 

mortality. 

1.800.753.2357 


Similarities and Differences of 


By Julia O’Connor, Ph.D., Kennedy Krieger 

Institute, and Department of Psychiatry 

and Behavioral Sciences, Johns Hopkins 

University School of Medicine; Co-chair 

CdLS Foundation Professional Development 

Committee 

Many syndromes, such as Cri du Chat, Fragile X and 

Rett, present with a range of impairments in the areas 

of communication, behavior, and emotion. Individuals 

with Cornelia de Lange Syndrome (CdLS) also present 

with impairments in these three areas. These are the areas 

that highlight the hallmark diagnostic symptoms for 

Autism Spectrum Disorder. For an individual to receive 

a diagnosis of autism, the following symptoms must be 

displayed: 

• qualitative impairment in social interaction; 

• qualitative impairment in communication; and 

• restricted repetitive and stereotyped patterns of 

behavior, interests and activities, as well as delays or 

abnormal functioning, with onset prior to age three, 

in (at least one of the following) social interaction, 

language as used in social communication, or 

symbolic or imaginative play. 

Some of the symptoms of autism that also occur in 

individuals diagnosed with CdLS include developmental, 

language and social development delays. The range of 

delay varies across individuals. Specifically, individuals 

diagnosed with CdLS are described as having receptive and 

expressive language delays with a significant discrepancy in 

these language skills. 3, 4 A similar discrepancy is described 

in individuals on the Autism Spectrum. 

Previous studies suggest a strong association between 

CdLS and Autism Spectrum Disorder. 1 For example, 

Berney and colleagues 1 reported that 53 percent of the 

49 CdLS individuals in their study displayed autism 

symptoms and these associations were not attributed to 

the level of intellectual disability. 7 

be less clear. Individuals with CdLS may present with 

increased anxiety, selective mutism, and shyness 2 that is 

not found in the autism group. 

In the Moss, Howlin, Magiati & Oliver article, 5 the 

CdLS group demonstrated a greater capacity to use eye 

contact and gestures in comparison to the autism group 

suggesting different social skills impairments across the 

groups. 

Further research is needed into the nature of the social, 

communicative and emotional impairments in CdLS 

compared to individuals with Autism Spectrum Disorder 

with similar intellectual disability. Not only are we 

interested in what ways these groups present in a similar 

fashion, but also in what ways the CdLS group presents 

differently than the autism group. These studies could 

aide in the delineation of different subtypes of individuals 

with CdLS along with specific treatment strategies that 

would be more beneficial for the specific subgroups. 

1 

Berney T. P., Ireland M. & Burn J. (1999). Behavioral phenotype of 

Cornelia de Lange Syndrome. Archives of Disease in Childhood, 81, 333–6. 

2 

Collis, L., Oliver, C., & Moss, J. (2006). Low mood and social anxiety 

in Cornelia de Lange syndrome. Journal of Intellectual Disability Research, 

50, 791–800. 

3 

Cornish, K., & Munir, F. (1998). Receptive and expressive language 

skills in children with Cri du-Chat syndrome. Journal of Communication 

Disorders, 31, 73–81. 

4 

Goodban, M. T. (1993). Survey of speech and language skills with 

prognostic indicators in 116 patients with Cornelia de Lange Syndrome. 

American Journal of Medical Genetics, 47, 1059–63. 

5 

Moss, J., Howlin,P., Magiati, I., & Oliver, C. (2012). Characteristics of 

autism spectrum disorder in Cornelia de Lange syndrome. Journal of Child 

Psychology and Psychiatry, 53, 883–891. 

6 

Moss, J., Oliver, C., Berg, K., Kaur, K., Jephcott, G., & Cornish, K. (2008). 

Prevalence of autism spectrum phenomenology in Cornelia de Lange and Cri 

du Chat syndromes. American Journal on Mental Retardation, 113, 278-291. 

7 

Oliver, C., Arron, K., Berg, K., Burbidge, C., Caley, A., Duffay, S., Hooker, 

M., & Moss, J. (2005). A comparison of Cornelia de Lange, Cri du Chat, 

Prader-Willi, Smith-Magenis, Lowe, Angelman and fragile X syndromes. 

GeneticCounseling,13, 363–381. 

However, in the area of social interaction, the overlap 

in presentation across the CdLS and autism groups may 

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A Closer Look at Autism 

With a broad range of characteristics that can accompany 

Cornelia de Lange Syndrome (CdLS) much can be 

overlooked and misunderstood. Family members, teachers 

and doctors may have difficulties understanding the full 

extent of issues that can arise with a CdLS diagnosis. 

While adding additional diagnoses may cloud medical 

history even more, they can also provide additional 

services and understanding of the child as a whole. 

Here are two families’ stories of their experience with 

autism. 

“The reason we pursued an autism diagnosis was Dr. Chris 

Oliver (a psychologist and member of the CdLS World 

Scientific Advisory Council),” said Phyllis, mother of 

20-year-old Christian, who received an autism diagnosis 

at age eight. 

“We had a meeting with Dr. Oliver at a conference when 

Christian was seven. He told me to look into autism 

treatments to help with some of Christian’s CdLS related 

issues,” said Phyllis. “CdLS has a lot of similarities as those 

seen in children who have autism. To pursue this avenue 

seemed like a logical way to go for us.” 

For other families, autism was not initially on their mind. 

After reading an article about autism and CdLS in an 

old issue of Reaching Out, Teala, mother of eight-yearold 

Sydnee, thought her daughter had autistic behaviors. 

“I wasn’t pursuing an autism 

diagnosis at the time. I went 

with Sydnee to see a behavior 

specialist to find treatment 

for her trichotillomania 

(pulling hair out) and it was 

suggested then,” Teala said. 

Sydnee was diagnosed with 

autism at age six. 

Determining Autism Spectrum Disorders (ASDs) can 

be difficult with no medical test, like a blood test, for 

diagnosis. Rather, doctors and psychologists evaluate 

the child’s behavior and development in order to make 

a diagnosis. 

1.800.753.2357 

Sydnee 

“Sydnee had a psychological evaluation and I was 

interviewed. I filled out lots of paperwork and Sydnee 

was observed,” said Teala. “On the Childhood Autism 

Rating Scale (CARS), Sydnee was placed in the severely 

autistic range.” 

Christian also had a formal evaluation. 

“There were observations and many 

questions, however, it was an easy 

diagnosis. Christian rated higher 

than average (in the CARS),” said 

Phyllis. 

With an autism diagnosis, some 

families find benefits that follow, 

such as gaining services in school and Christian 

a better grasp of the child’s struggles. For Phyllis’ family, 

having the autism diagnosis helped Christian get onto 

state medical services lists and helped him gain services 

in school. 

“Even the professionals at school didn’t have a full 

understanding of autism, so you can imagine trying to 

explain CdLS to them,” she said. “People have a better 

understanding of autism, so it’s easier to work with 

doctors, especially those who may have never heard of 

CdLS.” 

Teala also said the diagnosis opened up more services for 

her daughter. “Sydnee’s treatment plan has changed. Her 

Individual Education Plan (IEP) has changed as well, and 

we work with a [local autism support program] called 

Globe Star, which she now qualifies for. We’re still waiting 

on an autism waiver waitlist.” 

Many children with CdLS fall within the autism 

spectrum. It may be beneficial for parents to explore this 

additional diagnosis. It is important to remember the 

diagnosis does not change or define who your child is. 

Hopefully, it provides you with a greater understanding 

of your child’s behavior and how they interact with the 

world and the people around them. The diagnosis also 

opens doors to a greater range of resources and services. 

“Obviously, you don’t just want another diagnosis. You 

need to look at what the diagnosis is going to do for 

your child.” said Teala.“If you think there’s a chance that 

it will open some doors or bring more help to you and 

your family, then it’s worth looking into, but you need 

to be ready to handle another diagnosis.” 

continued on page 14 


HDAC8 FAQ Sheet 

In July 2012, the fourth “CdLS gene”—HDAC8— 

was announced. Many parents and professionals have 

questions about this latest finding and what it means. 

HDAC8 is an X-linked gene, meaning it is located on the 

X chromosome. The X and Y chromosomes are the sex 

chromosomes that determine whether an individual will 

be a boy or girl. Typically, a female has two Xs (XX) and 

a male has an X and Y (XY). 

Individuals who have the gene change in HDAC8 make 

up just a small portion of all people with CdLS. 

Sarah Noon, a genetic counselor at the Children’s 

Hospital of Philadelphia (CHOP) answers some common 

questions below. 

Q: Does the child have to be tested for the previous 

genes first before being tested for this gene? 

A: The University of Chicago has offered clinical testing 

for the genes NIPBL and SMC1A. Most recently, it began 

offering testing for SMC3, as well as the two new related 

genes, RAD21 and HDAC8. Together, approximately 4% 

of individuals with CdLS have a change in either SMC3, 

RAD21, or HDAC8. 

Research enrollment in a study conducted by Dr. Ian 

Krantz at the Children’s Hospital of Philadelphia is offered 

to individuals with CdLS or a CdLS-like phenotype 

who have had clinical testing of NIPBL, SMC1A and 

no mutations were identified. While it is preferred that 

SMC3, RAD21, and HDAC8 testing be completed prior 

to enrollment, this testing is currently not required to 

enroll. Submission of relevant clinical information, 

photographs, and consent forms are required. 

Q: Should mothers be tested? 

A: If a child has an identified mutation in the HDAC8 

gene, the mutation could have occurred as a new (de 

novo) event in that individual or it could have been 

inherited from a parent. Since women have two copies 

of the X chromosome, mothers can be carriers for an 

HDAC8 mutation. When a mother is a carrier for an 

HDAC8 mutation, one copy of her X chromosome has 

the HDAC8 mutation and the other copy does not. 

Unaffected mothers who are carriers typically do not 

show any signs or symptoms because the copy of the X 

chromosome without the mutation can compensate for 

the copy with the mutation. 

Once an HDAC8 mutation is identified in a child, it 

is helpful to test the mother to determine her carrier 

status. Determining the carrier status of the mother can 

help identify whether the mutation in the child was a 

new mutation or inherited. It can also provide useful 

information about risk to siblings and future pregnancies. 

Q: If the mother is carrying the mutation, what are 

the chances it will be passed to another child? 

A: Most cases are de novo(new); however, if the mother is a 

carrier for the mutation overall she has a 50 percent chance 

of transmitting the mutation in each pregnancy. Males 

who inherit the mutation will be affected and females 

who inherit the mutation will be carriers and are usually 

not affected*. Therefore, when a mother is a carrier she 

has a 25 percent chance to have a son who is affected, a 

25 percent chance to have a son who is not affected, a 25 

percent chance to have a daughter who is a carrier, and 

a 25 percent chance to have a daughter who is neither a 

carrier nor affected. 

Note: In the absence of identifying a mutation in the 

mother, the possibility of germline mosaicism cannot 

be excluded. Germline mosaicism refers to when the 

mutation is present in some of the parents’ egg or sperm 

cells. Recurrence risk to unaffected parents is therefore 

estimated to be approximately 1.5 percent. 

*It is possible for female carriers of an HDAC8 mutation 

to be affected and present with either mild features or a 

more classically defined CdLS presentation. This is due 

to an effect called skewed x-inactivation. 

Q: What is the cost for testing for each of the genes? Is 

the Children’s Hospital of Philadelphia the only place 

that tests for this new gene? 

A: Clinical testing for NIBPL, SMC1A, SMC3, RAD21 

and HDAC8 is offered at the University of Chicago. Costs 

and turnaround time are as follows: 

• NIPBL sequencing (6 - 8 weeks) $2,650 

• NIPBL deletion/duplication testing (4 weeks) $500 

• SMC1A sequencing (4 - 6 weeks) $2,025 

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• SMC1A deletion/duplication testing (4 - 6 weeks) 

$1,000 

• SMC3 sequencing (4 - 6 weeks) $2,900 

• RAD21 sequencing (4 - 6 weeks) $2,900 

• HDAC8 sequencing (4 - 6 weeks) $2,900 

For those interested in enrolling in the research study, 

CHOP does not charge a fee for individuals to be a part 

of the study. Since it is a research lab and not a clinical 

lab, there is no guarantee of a turnaround time for results. 

It could take up to one year for results to be returned. 

Q: Will insurance cover testing? 

A: Some insurance companies will cover the cost of 

genetic testing; however, how much is covered depends on 

each individual's insurance provider and particular plan. 

For more information about testing: 

Children's Hospital of Philadelphia 

Sarah Noon, M.S. 

3615 Civic Center Blvd. 

ARC 1008 

Philadelphia, PA 19104 

Phone: (215) 590‐4248 

Email: noonS@email.chop.edu 

University of Chicago Genetic Services Laboratories 

Christopher Tan, M.S. 

5841 S Maryland Ave., MC 0077 

Chicago, IL 60637 

E-mail: ctan@bsd.uchicago.edu 

(888) UC‐GENES 

Survey: Family Living 

Environments & Daily Life 

The study is looking at various aspects of families who 

have children with CdLS, and specifically assessing 

how having children with CdLS, whether their primary 

residence is at home with immediate family or at a 

residential placement, can affect daily life. 

The survey questions address different aspects of the 

household such as the financial situation and family 

relationships. 

Participants must be a parent of an individual with CdLS 

who is at least 13 years old. Families with more than one 

family member with CdLS are welcome to participate. 

The survey takes approximately 25 minutes to complete 

and is available online at https://www.surveymonkey. 

com/s/CdLSFamilyQualityofLife. The survey is open 

until December 31. Participation is voluntary, completely 

anonymous, and greatly appreciated. 

The study is being conducted by Alena Egense, 

a genetic counseling student at the University 

of Maryland. It has been approved by the CdLS 

Foundation Research Committee. Please email 

alena.egense@som.umaryland.edu with any questions 

or concerns. 

CHOP Offers Monthly CdLS Clinic 

The Center for Cornelia de Lange Syndrome and Related Diagnoses at the Children’s Hospital of Philadelphia offers monthly 

comprehensive evaluations to address common medical and developmental issues and concerns. After the evaluation, doctors 

will: 

• provide a written plan to share with your regular pediatrician and specialists; 

• work with you and your doctors to make sure care remains consistent and appropriate; and 

• schedule additional visits if necessary. 

The center offers “virtual consults” as well for those who may be unable to visit from out of state. 

Families should verify with their insurance provider whether or not their visit is covered. 

If you have questions or would like more information, call Sarah Noon at 215.590.4248 or email NoonS@email.chop.edu. 

1.800.753.2357 




Losing a sibling is never easy. The bond between siblings is 

very strong, even from a very young age. This rang true for 

Rich and his brother, Joseph, who had CdLS and passed 

away at the age of two when Rich was only Five years old. 

phone, I know it’s worth it. It takes an enormous weight 

off family member’s shoulders when they have someone 

to talk to.” 

Through his involvement, Rich has gotten to know 

families from around the country and uses his experience 

to connect with them on a deeper level. “My family has 

learned how important it is to reach out to others. I love 

the One Love, One Heart 5K because it becomes sort of 

like a family picnic, with families and children all enjoying 

one another and supporting one another.” 

One of Rich’s most inspiring experiences with the 

Foundation was attending the 2012 National Family 

Conference in June. 

“It’s one of the most important things the Foundation 

does—connecting families so that they don’t feel 

alone. I loved getting to meet entire families—moms, 

dads, aunts, uncles, grandparents, siblings. It’s really 

an all-encompassing thing. I met a mother who was 

overwhelmed because she realized that she wasn’t alone 

and people cared about her concerns. It was really 

touching.” 


“You have to grow up very quickly,” said Rich. “My sister 

was born a year and half after my brother was born, so 

being the oldest I felt a lot of responsibility even at a 

young age, making sure he didn’t roll off the blanket or 

out of sight.” 

Although Joseph passed away in 1982, Rich’s ties to 

the Foundation are strong. He serves on the Board of 

Directors and supports two Atlanta-area events, Brew 

& BBQ and the One Love, One Heart 5K Walk/Run. 

“When you get older, you find that you want to be 

involved in something that makes a difference. I started 

thinking about what I wanted my time to go towards 

and I naturally gravitated to the Foundation,” said Rich. 

“I know what it’s like for families and the struggles 

they may face with CdLS, so if I can be involved with 

helping another family, even if it’s donating money so 

that someone at the Foundation is there to answer the 

WELCOME NEW FAMILIES 

Arizona 

RaeAnn and Christopher and 

daughter Raelynn, born 

May 23, 2012 

California 

Ramona and son Joshua, 

born January 27, 2011 

Amy and daughter Safi, 

born June 13, 2012 

Florida 

Elizabeth and Shane and son Jacob, 

born May 3, 2012 

Guam 

Frank and son Chris, 

born November 28,1983 

Maryland 

Tasha and Denis and daughter 

Payton, born July 31, 2012 

Nebraska 

Megan and Steven and son 

Cayden, born February 9, 2010 

New Jersey 

Christina and George and 

daughter Emma, born 

June 29, 2011 

New York 

Yolonda and son William, born 

July 10, 2011 

Ohio 

Darey and Mike and daughter 

Taren, born April 25, 2008 

Virginia 

Melanie and daughter Jolieanna, 

born March 27, 2012 

REACHING OUT 

10 


Mailbag 

– Shannon – 

Time has passed so quickly and Shannon is becoming 

a young lady. I remember our first family conference in 

Ohio in 1993 when she was 2½ years old. Shannon is 

now 22 years old, is almost 5’ 5” and weighs 122 pounds. 

Now, we deal with guardianship, adult female issues, and 

transitioning out of high school into the “real world.” 

Shannon participated in the 

Special Olympics in Kentucky, 

playing basketball, track and 

field, bowling, and aquatics. 

In June of 2010, we went to 

the Special Olympics State 

Games for the aquatics event 

and she brought home a 

gold and silver medal. It was 

heartwarming to watch. 

Shannon graduated from Owensboro High School in 

May of 2011 and finished her last semester at Apollo High 

School when she turned 21. She is currently attending 

adult day care, alongside many of her friends from high 

school. 

Our biggest barrier is communication. Shannon is 

receiving speech and occupational therapy. She signs one 

or two word sentences, uses gestures, her facial expressions 

and body, and her voice spontaneously. She does 

vocalize, but only when she feels she is in a comfortable 

environment. We have a communication device she used 

in school and are working on utilizing that more. 

Shannon was diagnosed with Crouzon Syndrome at 

birth, because she had premature fusing of the sutures 

in her head, meaning there was no place for her brain to 

grow. She was born with hearing loss, and started wearing 

hearing aids at six months of age. Shannon started wearing 

eyeglasses at 14 months of age, after discovered she was 

near-sighted. 

With bushy eyebrows and long eyelashes, small thinned 

turned-down lips, small hands and feet, Shannon had the 

characteristics of CdLS, but not the correct diagnosis. 

In middle school, Shannon got a taste for art and was able 

to do some creative abstract artwork. She won contests and 

her work was on display in art fairs. We donated one of 

her pieces to a silent auction through the Kentucky Deaf 

and Hearing Impaired Department, and it was purchased 

by the Center for Deafness in Frankfort. We entered a 

large art piece in the Kentucky’s Special Olympics Art 

Contest and she won first place. We even sold some of 

her art (shown above) to help us attend the 2012 National 

Family Conference held in Lincolnshire, IL. 

1.800.753.2357 

It’s so important to keep encouraging her to communicate 

with us and her teachers or aides. I even work on reading 

her body language, like encouraging her to raise her hand 

if she needs to use the restroom. It’s really helpful for us 

to watch her behavior, because she clues us in to things 

she may not be able to otherwise communicate. 

Over the years, I’ve turned to the Foundation Staff, 

who were there for us, even if it just meant having 

someone to listen. I’ve received a wealth of information 

and have developed friendships with the staff. They 

have become my extended family, along with other 

families dealing with CdLS, we have met over the years. 

Linda 

Shannon’s mother, KY 

Submit your Mailbag or 

Super Siblings Story! 

Send your story and photo to 

bshepard@CdLSusa.org. 


Dress Down for CdLS 

Get comfy for a good cause. It’s simple to raise funds and 

awareness for the CdLS Foundation by organizing a Dress 

Down Day in your school or workplace. It’s fun, easy and 

gets everyone involved. 

The Foundation provides everything you need to make 

the day a success. All you need to do is schedule the date 

and publicize your event. Everyone who makes a donation 

receives a special gift. 

For more information or to register, please email 

specialevents@cdlsusa.org or call 800-753-2357. 

MO Golf Tournament Highlight 

The 24th Annual CdLS Golf Tournament was held on 

October 8 at Pevely Farms Golf Club in Eureka, MO. 

Since 1989, Madison County Wood Products and Pallet 

Logistic Management employees have raised more than 

$421,000 to help people with CdLS lead better, fuller 

lives. 

“We continue to be blessed with a group of loyal 

supporters that understand our passion and the support 

the CdLS Foundation gives to the families,” said Jim 

Kesting helped start the tourney in the late 1980s. “It is 

important that we continue to spread the word, increase 

awareness and hopefully add members to our support 

group.” 

Event Highlight: 

Brew and BBQ 

On September 15, more than 80 people came out to 

Sweetwater Brewing Company in Atlanta, GA, for the 3rd 

Annual Brew and BBQ to benefit the CdLS Foundation. 

Event organizers Fran Rissland(pictured at right below) 

and Suzanne Musial put together a night of food, 

friends and fun with more than 33 silent auction items 

up for bid. Thanks 

to the generosity of 

those who attended 

the event, over $3,800 

was raised for the 

CdLS Foundation. 

Event organizers Bryan Kesting & Jim Morton 

The tournament was inspired by Amber, daughter of 

Madison County Wood Products co-owner, Doug Gaines. 

This year, thanks to the efforts of organizers Jim Morton 

and Bryan Kesting, 122 golfers attended the tournament 

this year, and raised more than $35,000. 

“I am extremely proud of the continued support that 

our employees, family, friends, business associates and 

families with CdLS have given over the past 24 years,” 

said Kesting. “It’s a continued vote of confidence from 

them that they appreciate our efforts and believe in our 

passion and their hard earned dollars are going to a very 

worthwhile cause.” 

Thank you to sponsors, Madison County Wood Products 

and Pallet Logistic Management, and all of the golfers for 

making this event a continued success. 

REACHING OUT 

12 


Team CdLS 2012: Motivated to 

Do Something More 

This year, parents, siblings, cousins, friends, coworkers 

and neighbors came together on Team CdLS and 

pushed themselves to their physical limits in honor of 

people with CdLS. 

Here are their reasons for running: 

“We decided to run when we heard about it from our genetic 

counselor. We’re happy to be doing anything we can to help 

the Foundation, further research, raise awareness, and help 

other families like ours.” - Sarah of Burke, VA, who ran in 

the Baltimore Running Festival with her husband, Eric 

Team CdLS Chicago 

“A friend of mine has a daughter with CdLS, and told me 

the CdLS Foundation was always looking for runners. After 

training, I can now see that running 26.2 miles, which I 

once thought impossible for me, was within my reach. The 

same goes for the children with CdLS and their families. I 

want to give them hope and make them believe anything is 

possible.” - Brian of Queens, NY, who was signed up to 

run in the ING NYC Marathon 

“It’s a great group of people, with a fabulous coach and terrific 

captains. There is one thing that really powers me through 

sore hamstrings, long crack-of-dawn runs and too much 

Gatorade: my daughter, Tanaya, who has CdLS. It’s her, 

and all those with CdLS, that keep my feet moving.” - Ava 

of Sudbury, MA, who ran her fourth Chicago Marathon 

The list goes on with stories like these from people who 

may or may not know someone with CdLS, but who care 

genuinely about making a difference in the lives of others. 

In total, these 79 Team CdLS participants raised over 

$157,000 (as of Nov. 8).They have made individuals 

with CdLS the real winners with their commitment, 

determination and support, and we couldn’t be more 

proud. 

Team CdLS Baltimore 

2012-13 CALENDAR 

December 1 

One Love, One Heart 

5K Walk/Run 

Decatur, GA 

December 8 

CdLS Multidisciplinary Clinic for 

Adolescents and Adults 

Baltimore, MD 

May 20, 2013 

21st Annual New England Golf Tournament 

Ipswich Country Club 

Ipswich, MA 

May 11, 2013 

NE Family Gathering 

Maryland 

Team CdLS 

Hartford 

1.800.753.2357 


Monthly Giving: The Easiest Way 

to Support the Foundation 

Make a resolution to support the CdLS Foundation in 

2013 by becoming a monthly donor. 

Monthly giving is the most convenient and efficient 

way to support the Foundation. You can commit to a 

monthly, tax-deductible donation (as little as $10) that 

is automatically deducted from your credit/debit card 

or bank account. If things in your life change, you can 

increase or decrease the donation amount or cancel it at 

any time. 

Here’s how monthly giving adds up over the course of 

one year: 

• $15 a month keeps the web site up and running, 

allowing 24/7 access to features such as Ask the 

Expert and emergency medical information. 

• $50 a month provides 100 new families with 

our New Parent Packet, which contains critical 

information for families learning about the 

syndrome. 

• $100 a month pays for three months of our Toll 

Free HELP Lines, allowing parents, relatives and 

others to call for support at no charge. 

• $300 a month supports one family gathering, where 

families come together to share and learn. 

To set up monthly giving in 2013, call Kelly Brown at 

800.753.2357. 

A Closer Look at Autism 

continued from page 7 

Phyllis suggests researching autism and finding a doctor 

who specializes in it. “It’s important to consider every 

avenue. You can’t just see a doctor one time to know 

what’s wrong, and while it can get expensive, especially 

if insurance doesn’t cover it, it’s your child and they 

could get a lot of help in every area they need.” 

Match it! Challenge 2012 

Thanks to the generosity of so many of you, we have 

reached our Match it! Challenge goal of $10,000! With 

our anonymous donor matching the donations, your gifts 

have doubled. 

The Match it! Challenge was part of the 21st Century 

Conference Fund which was established in 2010 to 

ensure that the National Family Conference continues 

into the future. Our goal is to endow the fund, which will 

provide a permanent source of financial support for the 

event. That’s because the fund’s principal is never spent, 

rather the investment income is used. To endow the 21st 

Century Conference Fund, we need $2 million. Our work 

isn’t finished, but we’re moving closer to the endowment 

with every dollar that is donated. 

Thank you to those who so generously donated to the 

Match it! Challenge and who continue to support the 

Foundation. 

Start today! 

800.753.2357 

www.CdLSusa.org 

Monthly Giving Program 

Helping Out One Month at a Time 

Make a resolution to support the CdLS Foundation in 2013 by becoming a monthly donor. 

REACHING OUT 

14 


Good Going Grandparents! 

Thank you to everyone who celebrated Grandparents 

Day with the CdLS Foundation by participating in the 

2012 Grandparents Tea. By sharing a cup of hope with 

family and friends, you raised more than $3,000 to help 

provide the services and support that families need for a 

better future. 

On behalf of the CdLS Foundation and all of the 

individuals that it serves, thank you. 

Publicaciones Nuevas En Español 

Farewell to Family Service 

Coordinator Janette 

Janette Peracchio has been involved with the CdLS 

Foundation since 1982, shortly after her daughter 

Sara was born with CdLS. She was a Connecticut 

Regional Coordinator 

for over 20 years before 

becoming an employee 

in 2005. In this role 

she was instrumental 

in welcoming families 

new to CdLS and 

providing support and 

encouragement. For 

several years, Janette and 

her husband Bill would 

open their home so New England families would have 

the opportunity to gather and connect with one another. 

Janette and Bill also served on the 1992 (Boston) CdLS 

Foundation Conference Planning Committee. Upon 

retiring, Janette will remain an educational consultant 

for the CdLS Foundation. 

“Janette has empowered countless parents to become 

fierce advocates for their children within the education 

system,” said Lynn Audette, Family Service Coordinator 

with Janette for many years. “Anyone who has had 

the privilege of working with Janette can attest to the 

energetic spirit and positive attitude that she possesses. 

Her creativity and sense of humor will be sorely missed 

at the office.” 

Many materials are available in Spanish on the CdLS 

Foundation Web site. 

Visit www.CdLSusa.org/what-is-cdls/cdls-en-espanol. 

htm to view a full list of translated materials. 

Visítenos en nuestro sitio web www.CdLSusa.org/whatis-cdls/cdls-en-espanol.htm 

para obtener publicaciones 

nuevas en español sobre el síndrome Cornelia de Lange. 

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. 

1.800.753.2357 


Ask the Expert: 

What You Want to Know 

On the CdLS Foundation Web site, visitors have the 

opportunity to submit questions for response from members of 

our Clinical Advisory Board and Professional Development 

Committee. Whether you need answers about medical 

issues, communication questions or general inquiries about 

education, no question is too big or small to ask. 

Life Expectancy 

Q- We are in the process of setting up a trust for our 

daughter with CdLS. What is the life expectancy for 

individuals with CdLS? 

A- The life span of individuals with CdLS, as with 

other individuals, depends upon their level of care and 

general health. A person with CdLS is generally more 

susceptible to both accidents and common illnesses if 

they have no existing medical problems. Therefore, their 

life expectancy would be somewhat shortened over the 

random, unaffected person. Although life expectancy for 

both affected and unaffected individuals is lengthening 

with better medical care, it would be fair to estimate their 

life span is 10-20 years shorter than others, assuming no 

existing medical problem at the time of the estimate. 

Diarrhea: BRAT (Bananas, Rice, Applesauce, Toast) 

Q - Recently my child had episodes of diarrhea. When 

I checked with my child’s dietician about using the 

BRAT diet following these episodes, she told me that the 

pediatricians no longer support this diet. Do you have 

updated information on this practice? 

A - The BRAT diet is no longer recommended in the 

treatment of diarrhea. It is not nutritionally complete. The 

American Academy of Pediatrics recommends “continue 

to eat a normal diet including formula or milk.” High fat 

food and foods high in simple sugars should be avoided. 

Some examples of foods to avoid include carbonated soft 

drinks, fruit juices and liquids with a lot of sugar, gelatin 

desserts, and sugary cereals. Typically, I recommend that 

parents add the foods from the BRAT diet (bananas, 

rice, applesauce, toast) to what their child is currently 

eating and to prepare blander foods (without spices). 

Milk should only be restricted if it causes an increase 

in abdominal pain or diarrhea. It can be helpful to also 

REACHING OUT 

16 

include yogurt with active cultures (ones that contain 

acidophilus). Pedialyte is also recommended if the child 

is having watery diarrhea. 

Hearing: Flat Tympanograms 

Q - My son’s tympanograms test show a flat result. His 

ear drums do not move when being tested. The doctor 

said that this usually happens when someone has fluid in 

their ears, but he does not show any signs of fluid. Why 

is this happening? 

A - There are two reasons why your child may have flat 

tympanograms. First, he may have fluid in the middle 

of his ears. This is common in children with CdLS; and 

it should be treated usually with myringotomy and tube 

placement. However, many children with CdLS have 

extremely small ear canals. Consequently, it is possible 

to get a falsely flat tympanogram because the tip of the 

insert is against the ear canal wall. The differentiation can 

be made easily by the examining otolaryngologist. 

Nissen Fundoplication (reversal) 

Q - Is it possible for surgery to be performed to un-do a 

Nissen Fundoplication? 

A - Yes, although it is rarely done. The reason to re-explore 

a child who is post-Nissen is usually that the Nissen has 

slipped above the diaphragm, the most significant of 

which is a condition called para-esophageal herniation. 

This can be life-threatening. The other most common 

reason is that the Nissen no longer is working, has broken 

down, and requires repair. To re-operate to “un-do” a 

Nissen suggests that it wasn’t necessary in the first place, 

or it was done incorrectly and needs correction. 

Perseverative Behavior 

Q - I am a teacher of a four-year-old boy with CdLS. I 

have worked with him for a year and half and have seen 

him make great strides in communication. We have a total 

communication approach with him. He uses sign language 

freely and also uses an augmentative communication 

device. My questions and concerns for this child are 

his behavior. From the beginning, he has demonstrated 

extreme perseverative behavior. What we’ve seen happen 

over the last year and a half is that one behavior disappears, 

only to be replaced by another. At times, these behaviors 

(chewing on clothes, sweeping objects from work surfaces, 

Continued on next page 


taking off shoes, chewing on toys) interfere with learning. 

At other times he seems to be listening even though he is 

engrossed in an object. Should we ignore him when he 

is chewing on clothes? Should we insist that he keep his 

shoes on all day (he has taken them off continuously even 

when rewards were offered to keep them on)? Nothing 

seems to motivate him to stop these behaviors and I 

wonder if it is a part of CdLS that will not change. I don’t 

want to give up trying to extinguish his behaviors, but if 

it is something that will not change, should I be looking 

at other areas to work on? 

A - People with CdLS, like many people with mental 

retardation, are given to habits, mannerisms and 

stereotyped behaviors. They cannot be extinguished easily, 

however they are not a necessary, inevitable or immutable 

aspect of the syndrome. But they must be tolerated, at 

least to a degree. 

There are two approaches to management: differential 

reinforcement of alternate or incompatible behavior; 

usually a question of engaging the child in an alternative 

behavior and gradually increasing the time he spends in an 

alternative behavior; and using the perseverative behavior 

as reward, a permitted recreation, and gradually reducing 

the time spent in it. 

As children mature and their repertoire of behavior 

increases, they should spend less time perseverating. Use 

redirection rather than confrontation. 

To submit a question, visit asktheexpert.cdlsusa.org and click 

“Submit a Question.” You will then be prompted to fill in 

your question and contact information. 

For previously asked questions, visit asktheexpert.cdlsusa.org 

and either explore using the search box or scroll down and 

review topics in alphabetical order. 

CdLS Multidisciplinary Clinic 

for Adolescents and Adults 

December 8, 2012 – Baltimore, MD 

The CdLS Multidisciplinary Clinic for Adolescents 

and Adults occurs twice yearly at the Greater Baltimore 

Medical Center (GBMC) in Baltimore, MD. The clinic 

is FREE of charge to families. 

Foundation Medical Director Antonie Kline, M.D., 

Director of Pediatric Genetics at the Harvey Institute for 

Human Genetics at GBMC, has led this clinic since 2001. 

Participants receive one-on-one consultations with 

specialists from: 

• Pediatric Ophthalmology 

• Gynecology 

• Internal Medicine 

• Pediatric Dentistry 

• Pediatric Ear, Nose and Throat 

• Genetics 

• Gastroenterology and Nutrition 

• Child Psychiatry 

• Behavioral Psychology 

Any individual age 12 or older with CdLS can 

attend with his/her families. If you’re interested in 

attending, call the Foundation at 800-753-2357 or 

familysupport@CdLSusa.org. 

1.800.753.2357 


Donations from 7/1/2012-9/30/2012 

Gifts that Count - 

In Honor/Celebration 

Andrew Patitucci 

Joan and David Hanisco 

Anya Janoski 

Beth Stern 

Brenden Keating 

Karin Csolty 

Caitlin Igoe 

Martha and William Brunelle 

Caitlynn Jacobsen 

George Jacobsen 

Colin & Chance Rissland’s 

Birthday 

Erin and Frank Carcioppolo 

Shelly and John Hammack 

Amy Ryan 

Carly Blaiss 

Daniel Kliewer 

Helen Ahearn 

Denise Ray 

In honor of Haven Ray 

Diane Friedman’s Birthday 

Sandra and Stuart Kaufman 

Ethan Walters 

Penelope Mary Keating 

Elijah McGaw 

Jeryl McGaw 

Emma Perez 

Susan Rosser 

Emmie Oros 

Janie and Brian Nelson 

Jack Yadisernia 

Dorothy and David Nasuti 

Joshua Bleicher-Nugent’s 

Graduation 

MGM’s of the NCCCECE of Har 

Zion Temple 

3rd grade parent child class of 

Main Line Reform 

Kailani K. deAngeli 

Kristen Langenback 

Lorenzo J. Calvillo 

Ramon Garcia Campaign 

Manuel J. Garcia 

Janine Thompson 

Giselle Bonet 

Claudia Cunningham 

Aarti Garg 

Kim Addis 

Kanan Chheda 

Susan and Frank Leone 

Liana Davila and Michael Garcia 

Emily and Joe Berry 

Mary Fiori 

Carolyn and Ted Williams 

Matthew Rodgers 

Kathy and Timothy Hallman 

Michael Viola 

Carole and George Haker 

Haker Auto Sales, Inc. 

Nicole D. Bare 

Christa Medders 

Nicole Miller 

Karen and Jim Miller 

Paula Snyder 

Jacquelyn Snyder 

Ryan S. Elphingstone 

Susan and William Elphingstone 

Sarah Suttmann 

Robin Bessler 

Sophia A. Burrows 

Sandra Young 

Stelios Bardis 

Joann and Michael Bardis 

Tara Joyce 

Patricia and Gerry Joyce 

William E. Smisloff 

Eileen and Michael Swart 

Catharine Wagner 

Elaine and Thomas Whalen 

In Memory 

Alice Ewals 


Zion Temple 



Bryce Bode 

Board and Staff of the CdLS 

Foundation 

Daniel Krimpenfort 

Jo Ann and Robert Hanekamp 

Mary Krimpenfort 

Darryl Handcock 

Andrea and Marc Needlman 

David Butkus 

Matthew Butkus 

Grumman & Butkus Associates 

J Litcher 

Diane and Alvin Brandon 

Tari Koty 

Patricia and Nicholas Spencer 

Ellen Butkus 

David K. Cameron 

Kelly McCoy 

Ryan King 

Ann and Michael Weiler 

Shawnee Mission Schools 

Stryker Instruments 

Jeanne Nunn 

Lisa Smith and Steve Smith 

Judith and Howard Becker 

Sandra McCurdy 

Jeanne and Fred Woodin 

Gina and David Fishman 

Victoria Santarcangelo 

Kylie Tsai 

Sandra Rangel 

Judith McMullen 

Michael Morgan 

Carol Rupert 

Linda LaPietra 

Charlie Skillman 


Foundation 

Emma Bunselmeier 

Gretchen Hartz 


Foundation 

Fannette Edelstein 


Zion Temple 



George Lininger 

Phyllis Koches 

Martha and Mike Yandrick 

Marta and Andrew Urban 

Herb Shannon 

Linda Walsh 

Mark Shannon 

Laurie and Larry Whitmore 

Theron Bradshaw 

Jason Deverman 

Oberlander Electric 

Debra and Randall Beck 

The Nott Company 

Betty and Doug Dean 

Brenda Stevenson-Bailey and 

Joseph Bailey 

Catherine Satterfield 

Dan Baker 

Diana and Leo Knott 

Jamie and Troy 

Schimmelpfenning 

Joyce King 

Liz and Paul King 

Mary Miller 

Michelle and Ronald Carrothers 

Miriam Hawk 

Nel and Bob Wells 

Patricia and Duane Stringer 

Sonia Sullivan 

Ian P. Gibbon 

Glorianna Gibbon 

James McKinley 

Ronald McKinley 


Foundation 

Janeth L. Eberle 

Elizabeth and Gregory Shields 

Christine Shields 

Denise Skelton 

Ellenjane and Robert Gonyea 

Raymond Chase 

Risa and Aaron Kassoff 

Lindsey Rekoski 

John Marken 

Manuel J. Garcia 

Marian Davis 

Mary L. Horsey 

Karen Manning 

Millie Bongornia 

Ellen and Anthony Scibelli 

Patience Johnson 

Ronald Tozzie 

Carole and Dick Stewart 

Emma Speranza 

Sara Peracchio 

Amelia Varca 

Aldo and Josephine Peracchio 

Stephen Knapp 

Joanne and Stephen Gersuk 

Virginia Rodgers 

Marian Hinkle 

Walter R. Rodgers 

Donna and Todd Rodgers 

William Andrews 

Cecelia Andrews 

Wanda Price 

Judith Akhras 

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. 

REACHING OUT 

18 


Reaching Out for 35 years 

For over 35 years, the CdLS Foundation has been 

providing resources for families around the country. The 

very first Reaching Out newsletter was sent in July/August 

1977 and was deemed “A Newsletter for families and 

friends of children with Cornelia de Lange Syndrome.” 

It went on to discuss naming the organization, membership 

dues (which at the time were $6) and the thought process 

behind the title “Reaching Out.” 

After 35 years, our newsletter goal continues to be “to 

reach out and offer encouragement to as many families 

as possible.” 

On the Cover 

At the 2012 CdLS Foundation 

National Family Conference, 

we raffled off the fall cover 

of Reaching Out. The winner 

was Camden of Kansas. 

Congratulations to Camden 

and his family, including his 

little brother, Kaleb, with 

him here. 

Our Deepest Sympathy 

Reaching Out through the years - 

1977 (at left) to 2012 (at right) 

David Kennedy Cameron 

June 10, 1982 – July 24, 2012 

Son of Cindy Connellan 

5516 W 81st Terrace 

Prairie Village, KS 66208 

and Chris Cameron 

Marlborough, MA 

James Francis McKinley 

July 2, 1964 – June 30, 2012 

Ron McKinley Family 

95 Golf Parkway, Unit C 

Madison, WI 53704 

Bryce Keith Bode 

June 29, 2012 – September 28, 2012 

Son of Kendra and Brian Bode 

421 West 18th St. 

Rockfalls, IL 61071 

Patience Johnson 

June 4, 2009 – September 25, 2012 

Daughter of Barbara Pomeroy 

and Ivery Johnson 

4 Dooright Drive 

Scotland Neck, NC 27874 

Yes, I want to be a hero for 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 


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 

Be a hero. No cape required. 

Heroes don’t always make headlines or receive medals. 

They think of others before they think of themselves, 

taking action on behalf of an individual, a community or 

a cause. Their ability to make positive connections without 

expecting any personal gain is inspiring. 

At the Cornelia de Lange Syndrome (CdLS) Foundation, 

we have the privilege of knowing many heroes, just like 

the people shown here, who give their time, energy and 

financial resources to support a cause close to their hearts. 

Ken, rode his Harley 

across the country for 

children with CdLS 

You can be a hero too. With your support today, you can 

secure the future of the services and program that the 

CdLS Foundation offers individuals with CdLS and their 

families. Your year-end donation—big or small—turns 

into a greater gift when everyone joins together to improve 

the well-being of others. 

Thank you for being our [super]hero. 

Please use the coupon on page 19 or go to donate.cdlsusa.org. 

Felicia, Awareness and 

Regional Coordinator, and 

Team CdLS Hartford runner

Fall 2012 - CdLS

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