Winter 2012

Reaching Out
The Newsletter of the Cornelia de Lange Syndrome (CdLS) USA Foundation, Inc.
Winter 2012
Highlights
Director’s Message:
Match it!
Spotlights:
Dental Issues
Cause of Death
Super Siblings:
Going the Distance
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
Match it! Challenge
With the 2012 National Family Conference almost here, the CdLS Foundation is busy
making final preparations for the biennial event. In addition to finalizing workshop
schedules, choosing menus and securing professionals to provide consultations, we’re
working to raise the funds to pay for it all, as well as provide scholarships to first-time
families and grandparents.
There are numerous ways the Foundation funds this signature event. We’ll be selling
butterflies in honor or in memory of individuals (just like the stars at the Dallas
conference in 2010); soliciting individual gifts from families and companies; and, new this
year, hosting a charity golf tournament in Lincolnshire the day before conference begins. But perhaps most exciting
is the Match it! Challenge.
A very generous family, who has chosen to remain anonymous, has promised $10,000 to the 21st Century
Conference Fund if the Foundation raises $10,000.
This fund was established in 2010 to ensure that the National Family Conference continues into the future. Our
goal is to endow this 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.
The quickest way to meet the Match it! Challenge—and for the Foundation to double its money—is for 10 families
to commit $1,000 each. Of course, that’s not possible for many people, so if $25 is more realistic, it’s just as
appreciated. Every dollar gets us closer to the $10,000 goal.
Please join us in meeting the Match it! Challenge. Imagine how many families in the future will benefit from your
generosity today. To contribute to the 21st Century Conference Fund, call me at 800-753-2357 or use the coupon
on page 17. You can also donate securely online. Go to www.CdLSusa.org, click Donate Now and choose Match it!
as your donation type.
Sincerely,
Liana Garcia-Fresher, R.D., M.S.
Executive Director
[email protected]
PS – I hope to see you June 21-24
in Lincolnshire, IL. Download the
conference registration at www.
cdlsusa.org/what-we-do/biennialcdls-conference.htm
REACHING OUT
In This Issue
Super Siblings:
Going the Distance
4
Oral Health Issues
12
6
A Closer Look at Oral
Health Issues
13 Mailbags
7
Volunteer Profile:
Jindi’s Legacy
14 Event Recap
8 Causes of Death
16 Conference 2012
11 Welcome New
Board Members
2
www.CdLSusa.org
Understanding Death in CdLS
Reaching Out
by Antonie Kline, M.D.,CdLS Foundation Medical Director
On page eight of this issue of Reaching Out, you
will find a very important, albeit perhaps difficult
to read, article about the most common reasons
individuals with CdLS die.
Nearly six years ago, Dr. Laird Jackson—the
Foundation’s first medical director—asked for
information from parents whose children with
CdLS had passed away. As always, families
did not hesitate to participate by sharing their
difficult stories and obtaining necessary medical
information, which formed much of the basis for Dr. Jackson’s research on
causes of death. The data in the article represents a summary of 20 times more
data than ever previously reported.
Discussing such topics can make families uncomfortable, but it is necessary to
help gain critical knowledge that can benefit other children in the future. It is
our hope that this knowledge will result in healthier, longer lives for all people
with CdLS. For example, cause of death research has provided some of our
recommendations in the CdLS Medical Alert Card and treatment protocols
(available for download at www.CdLSusa.org, under What is CdLS, Critical
Care Info).
The Foundation is grateful for the tireless work of Dr. Jackson, and for each
family who helped him along the way.
Published Since 1977
(ISSN 1097-3052)
Cornelia de Lange Syndrome
Foundation, Inc.
Incorporated December 1981
email: [email protected]
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 Optiz, TX
. . . . . . . . . . . . . . . . . . . Fran Rissland, GA
. . . . . . . . . . . . . . . . . . . Beth Smisloff, NY
PROFESSIONAL STAFF
EXECUTIVE DIRECTOR
Liana Garcia-Fresher, R.D., M.S
MEDICAL DIRECTOR
Antonie Kline, M.D.
ASSISTANT EXECUTIVE DIRECTOR
Marie Concklin-Malloy
DEVELOPMENT MANAGER
Gail Speers
FAMILY SERVICE MANAGER
Deirdre Summa, M.S.W.
FINANCE MANAGER
Kelly Brown
COMMUNICATIONS COORDINATOR
Francesca Scognamiglio
OFFICE MANAGER
Sara Gaffney
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.
1.800.753.2357
3
FAMILY SERVICE COORDINATORS
Lynn Audette, M.S.W.
Janette Peracchio, M.Ed.
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.
Winter 2012
Oral Health Issues Facing
Individuals with CdLS
number of individuals with CdLS. This becomes a
serious threat to good oral health well into adulthood
and can cause the early loss of the permanent teeth.
by Dr. Richard Mungo, D.D.S.
CdLS Foundation Clinical Advisory Board Member
The lower jaw can be short. The upper jaw can be very
narrow and positioned forward on the skull, causing
misalignment and crooked teeth.
A daunting task facing parents
of a child with multiple physical
and developmental challenges is
assembling a strong healthcare
support team that can guide them
through the maze of therapies,
treatments and unknown
difficulties.
The upper and lower jaws are also usually quite narrow
with a very high arch to the palate. This kind of
arch configuration
makes for very
crowded teeth. Some
people feel that this
contributes to tongue
thrusting due to such
a small space for
tongue positioning
and resting.
Very important members of that team are the dental
specialists who can address the oral health concerns
affecting children and adults with Cornelia de
Lange Syndrome (CdLS). Common oral and dental
abnormalities can have a profound effect upon the
overall health of patients. Feeding struggles (associated
with a high prevalence of oral clefting), delayed
eruption of the teeth, and proper swallowing, demand
an early establishment of a “dental home.” An early
consultation with a pediatric dental specialist is
important. Pediatric dentists are trained in all aspects
of assessment and treatment associated with children
who possess special health care needs.
There are many other factors involved with tongue
thrusting, such as a constricted airway, large tonsils
or neurological abnormalities leading to a poorly
developed swallow mechanism. This can also lead to
excessive drooling. Tongue thrusting and drooling are
common in children with CdLS. A consultation with a
speech pathologist, myofunctional therapist or physical
therapist could be helpful.
Physical Issues
CdLS presents an array of different abnormalities
affecting the mouth and craniofacial structures. The
jaws, teeth and oral soft tissues can be altered due
to poor growth and development. Children with
CdLS are at a higher risk
for cavities, orthodontic
problems and self-inflicted
oral injuries.
Erosion
Enamel erosion can be seen in individuals who
experience gastroesophageal reflux disease (GERD).
The upward flow of stomach acids constantly bathe
the teeth and cause the protective layer of enamel to
dissolve away. This allows cavities to develop. When
pitting of the enamel is seen on the backside of the
front teeth, due to the acids, the pediatric dentist will
use various medications, like fluoride, to control or
even reverse the acid damage.
It is common to have
clefting of the palate,
which can affect infant
feeding, speech development
and proper jaw growth.
Ankyglossia, or tongue-tie,
is found in many children
and can greatly affect speech development and proper
eating. This condition can also be a factor in excessive
drooling, making it difficult to swallow effectively.
Periodontal, or gum, disease can be detected in a great
REACHING OUT
Tooth grinding, known as bruxism, compounds
the erosion problem, causing further loss of tooth
structure. The pediatric dentist can make a retainer-like
device that can be worn to prevent the bad effects of
tooth grinding.
Teeth Growth
Children with CdLS do have a great number of
orthodontic concerns. The growth and development
issues associated with the syndrome not only affect the
4
www.CdLSusa.org
always, we must weigh the risks and the benefits and
come to a wise decision as
to how to safely proceed.
height and weight of the children, but the growth and
maturity of the mouth and dentition.
The primary, or baby, teeth have a tendency to come
into the mouth later than we would typically expect.
These teeth often do not fall out when they should.
This causes the permanent teeth to erupt in an
abnormal position and can block the permanent teeth
all together. Sometimes it is necessary to remove the
baby teeth when they stay in too long. The dentist will
determine if and when the over retained baby teeth, or
even some of the permanent teeth, must be removed
for a better bite.
The medical and
developmental
complications associated
with CdLS make the
delivery of dental therapy
a challenge. When dental
treatment, such as fillings,
extractions and even some
preventive procedures like dental sealants, are required,
the best approach to accomplishing these tasks must
be determined. Some children with CdLS receive their
care in the dental office alongside their typical siblings
with ease. For many others, this is not possible.
Hygiene & Behavior
Home care and dietary concerns must be addressed
early on. Appropriate oral hygiene practices can
be taught to parents and other caretakers. Special
toothbrushes, toothpastes and devices to help in the
brushing process are available. Prevention of early
childhood cavities, usually due to nighttime infant
feeding practices, must be addressed as soon as possible.
Monitoring for habitual retention of food in the
cheeks, a common
practice of children
with CdLS, must
be met with oral
cleansing after each
feeding. This can
prevent the molars
from decaying rapidly.
Conscious sedation, deep sedation and even general
anesthesia are adjuncts to care that are often necessary
in order to obtain cooperation and can take place
in the dental office, surgery center or hospital
environments. Airway abnormalities and the general
health of the child must be taken into consideration to
determine the safest approach to care.
The pediatric dentist can determine the best avenue
to pursue in order to deliver the highest quality of
care in a safe and effective manner. It’s helpful to alert
all of the child’s healthcare providers any time the
child will be placed under general anesthesia. Other
physicians and dentists might desire to take advantage
of the sedation and join together to perform multiple
treatments, thus minimizing anesthetic experiences.
Self-inflicted oral
and facial trauma may be noticed and addressed with
various dental appliances and referrals to behavioral
therapists. Routine six-month check-ups can assist
in monitoring changes, detecting pathology and
reinforcing proper home care.
In Summary
The oral and dental concerns associated with CdLS
necessitate early evaluation and intervention. A “dental
home” must be established as early as possible so the
child can consistently receive oral health care and
prevention that is culturally sensitive, comprehensive
and easily accessible.
Visiting the Dentist
An orthodontic consultation around the age of six
years old is recommended. It can then be determined if
the child is a good candidate for orthodontic care and
when it should be started.
Compromises are often the answer. Obtaining a
moderate improvement may be all that’s needed or
accomplished. When working with the pediatric dentist
or orthodontist, we always need to be practical. We
want to help improve the health of the child but, as
1.800.753.2357
5
Winter 2012
A Closer Look at Oral Health
Brusha, brusha, brusha
Although most parents worry about their children’s
oral health, parents of children with Cornelia de Lange
Syndrome (CdLS) have additional concerns and even
struggles. While it can be difficult for parents to get
typical children to brush, add to that battle a smaller
than average mouth, palate issues and a child who
hits herself whenever she brushes, and this task can be
almost impossible. It was that way for Florence, who is
the caregiver of her granddaughter, December, who has
CdLS.
Getting kids to brush every day is hard enough; add
CdLS into the mix and it can get even tougher. We
asked parents for their tips and tricks and here’s what
they said:
• With Sophia, I was in her mouth from the time
we got the diagnosis because I read about the oral
aversions. We started with a fingertip nook brush on
her gums, cheeks, palate, and tongue.
• A vibrating toothbrush, character toothpaste and our
special “brusha, brusha, brusha” song.
Around the age
of 10, December
(pictured at right)
started having
more severe dental
issues, according to
Florence. Initially, it
began with cavities
and palate issues
(hers is lower than
normal). On top
of this, Florence
says that December
experienced nerve issues within
her mouth
thatt made
ithi h
th th
d it
uncomfortable for her to brush her teeth. She often hit
herself and became agitated when brushing.
• I brush Skyler’s teeth during bath time. This seems
to be more relaxing to him. He is more cooperative
with the bath water running and while being sung to.
I make up a song about him getting his teeth brushed
and when I stop singing he knows he’s done. To
reinforce his good behavior, I give him a toy and let
him play for a bit before we wash. Works like a charm
almost every time.
• Danika loves character brushes, of course, and
then we all have to brush together. It’s a game and
sometimes we have to sing too. I do have to tickle her
to get way in the back sometimes.
• When Alex transitioned out of a pediatric special
needs clinic to an adult special needs clinic, we were
introduced to a new type/style
yp y of toothbrush called
a “Surround”
toothbrush. Alex
had always been very
receptive to having
his teeth brushed
over the years.
However, in recent
years not so much.
This new type of
toothbrush has made
the job easier and
more thorough.
All of these issues compounded, and a few months ago,
December had five teeth extracted. For this, she had to
go into the hospital and under anesthesia. Fortunately,
December handled the anesthesia well and had no
complications or excessive bleeding, Florence reports.
Since then, Florence and December have found
their new favorite gadget—the vibrating toothbrush.
The vibrations calm her down and make tooth
brushing a much easier task. Both grandmother and
granddaughter seem to be enjoying a break from their
dental woes.
REACHING OUT
6
www.CdLSusa.org
Foundation Volunteers in
Action: Jindiʼs Legacy
other health related issues common to CdLS before
attending, and parents would feel confident about
leaving their children with the girls. In addition,
because they were already familiar with CdLS and had
experience interacting with Jindi, the girls were perfect
candidates for caregivers.
Kathy and Gene have been a part of the Cornelia de
Lange Syndrome (CdLS) Foundation National Family
Conference since the very beginning. And with the
renaming of the conference childcare program, they are
now part of it forever. Starting in 2012, CdLS childcare
at the national family conference will be known as
Jindi’s Place, named after their daughter, Jindi.
The Bogota Girl Scouts
have been a staple at
every national and
international conference
(except Denmark in
2011). This not only
helped parents, but it also gave many girls from the
Bogota community the chance to travel the country
and even the world.
Gene, Jindi and Kathy at conference in 1993
Gene and Kathy were among the families at the first
CdLS family picnic in Maryland in 1980. They drove
straight to the picnic from a wedding, missing the
picnic, but making it in time to meet up with families
who were still in the area. Kathy and Gene remember
sitting in someone’s hotel room chatting, while Jindi
held onto the sides of the bed, scooting herself around.
Jindi at one of the first family gatherings
“No one could see her though,” Kathy says, “because
she was so small.” And although everyone in the room
understood this as normal, not everyone beyond the
hotel walls did. For those unfamiliar with CdLS, it was
difficult to grasp how a child could be so tiny at age
one, but there was no explanation needed when among
the CdLS families.
Unfortunately,
there
U
has
ha been a decline in
interest
in Girl Scouts.
in
The 2012 conference
is the first year time
in three decades that
t
there
is no troop to
b
bring;
however, Gene
a Kathy will be
and
t
there,
along with their
daughter Kortni—a
nurse and their “right
hand” for many
years—training
childcare volunteers
and overseeing the
program.
Jindi passed away in 2003 at age 22, but Gene and
Kathy never let that deter their involvement. Although
the news of the renaming brought tears to their eyes,
Kathy and Gene say they were “happy tears” and that
it’s a continuation of the happiness Jindi brought to her
family and community during her life.
When childcare became a necessity at these gatherings,
the Van Burens knew they could help. Kathy, Gene
and their daughters participated in the Girl Scouts
of America in their hometown of Bogota, NJ, and
knew that bringing in a troop to assist was the perfect
solution. The girls would be trained in CPR and
1.800.753.2357
7
Winter 2012
Evaluation of Causes of
Death and Autopsy Reviews
in Individuals with CdLS
respiratory causes (including pulmonary edema,
apnea, collapsed airway, and pertussis) in five cases.
The majority of the GI deaths were related to GI and
volvulus/obstruction.
In this study, patients were selected from a database at
the Children’s Hospital of Philadelphia (CHOP) and a
previous database at Jefferson Medical College. Causes
of death in 294 of these patients were determined from
review of death certificates, clinical records, autopsy
reports, hospital records if available, and contact with
the family.
One hundred fourteen children between ages one
year and 18 years were included in the childhood data
set. The three most common causes of death in this
group were respiratory (38/114), GI (22/114), and
CNS causes (15/114). Other causes included accidents
(12/114) and cardiovascular (11/114).
• gastrointestinal (GI), including primary GI
infections, GI-volvulus/obstruction (GIVO), and
deaths related to surgical correction of GI problems;
Respiratory deaths were related to reflux/aspiration
in 12 cases, bacterial pneumonia in eight cases, and
viral infection. GI causes were overwhelmingly related
to GIVO (20/22). There were several feeding tube
accidents. CNS causes were attributed to seizures in the
majority. Again, the majority of the CV deaths were
related to CHD. Accidents accounted for a much larger
percentage of deaths in this group, as would be typical
for all children with or without CdLS.
• cardiovascular (CV), sub-classified into congenital
heart disease (CHD) (born with a heart defect),
which includes complications from surgical repairs,
and other CV disease;
For the 97 individuals over age 18 years, the main
two causes of death were respiratory (31/97), and GI
(27/97), with CNS (10/97) a distant third.
• neurologic (CNS), including seizures and central
apnea;
Of the respiratory causes, 16 deaths were related to
reflux/aspiration, 10 to bacterial pneumonia, and five
unspecified. Of the GI deaths, most were attributed to
GIVO. CNS deaths were accounted for by seizures in
four cases, subdural hemorrhage in two cases, stroke in
two cases, and one case each of meningitis and trauma.
Categories of major organ systems were used to assess
the causes. The major causes of death included:
• respiratory, which included all primary respiratory
infections, including those related to reflux/
aspiration, pulmonary embolus (PE) and asthma;
• accidents;
• sepsis, or overwhelming infection, including
infections without identifiable primary source;
• renal (kidney); and
Of the seven CV deaths, two were related to
congenital anomalies, and the others to pericarditis,
congestive heart failure, myocardial infarction, and
cardiomyopathy. There were five cancer deaths in this
group: three were esophageal cancers, one stomach
cancer, and one unspecified cancer.
• congenital diaphragmatic hernia (CDH) (a defect in
the diaphragm leading to bowel being pushed into
the lung cavities).
Results
Causes of death (Note: only the most common are
listed.)
Average Age at Death
The average age of death for those who survived the
neonatal period was 12 years 9 months; for those who
survived past age one, it was 16 years 2 months; and
for those who survived past age 18, it was 28 years
2 months. As the group included only patients who
were deceased, these numbers should be interpreted
only as data representing the age at death and not life
expectancy of children with CdLS.
For 32 infants under 28 days of age, the most common
cause of death was congenital diaphragmatic hernia.
Of 51 babies from 29 days to one year of age, the most
common causes of death were respiratory (17/51),
CHD (15/51), and GI (9/51). Respiratory deaths
in this group were associated with reflux/aspiration
in eight cases, pneumonia in four cases and other
REACHING OUT
8
www.CdLSusa.org
To date, no underlying immunologic abnormality is
known in patients with CdLS; however, anomalies of
the thymus (an organ of the immune system that is
located in front of the heart and behind the sternum)
were noted on 8/31 of the autopsies (nearly 25
percent). This raises the possibility of an underlying
immunologic abnormality as a contributing cause,
and more research is clearly needed on this subject.
In addition, five of the autopsies reported anatomic
abnormalities of the lungs, raising the question of these
abnormalities leading to increased susceptibility to
infection.
Discussion
The most surprising finding from this data is the
percentage of deaths attributable to GIVO. In addition
to the deaths described above, there are multiple case
reports of non-fatal GIVO successfully treated with
colonic resection (surgery of the large bowel). As
surgical techniques have improved, so has survival.
However, survival depends on timely recognition and
intervention. Many of the cases were unsuspected
clinically due to the non-verbal development of
many patients, with patients presenting simply
with discolored discharge in their feeding tubes or
an increase in self-injurious behavior. GIVO as a
significant contributor to overall causes of death in
the patients with CdLS underscores the importance of
timely recognition and evaluation for obstruction in
the patient with any change in behavior, mental status,
or GI symptoms. (Signs of bowel obstruction include
sudden onset of abdominal distention or rigidity of the
abdomen, vomiting yellow or green bile, increased pain,
and/or self-injury.)
The impact of reflux is also seen in the incidence of
reflux-related cancers, with esophageal cancer listed
as the cause of death in three cases and stomach
cancer in one case. Our data underscores a need for
aggressive management of reflux—which is present
in close to 100 percent of individuals with CdLS—in
these patients, as well as timely intervention, antibiotic
treatment, and organism identification in all cases of
respiratory infection.
The number of deaths in the CdLS population studied
that were related to GIVO (49 cases) far outnumber
those in the medical literature (two cases). This may, in
part, represent failure to understand this as a cause of
death until recently, and is supported by the finding of
intestinal rotation abnormalities as incidental findings
on post-mortem examination in 11 published cases.
Some of the most unnerving deaths in the cases
presented are those in which a seemingly healthy, or
recovering, child dies suddenly from causes related to
apnea/central hypoventilation (stopping breathing).
Two published cases describe episodes of apnea in
patients with CdLS: the apnea death of a 21-year-old
man following a dental procedure and a one-monthold infant who experienced non-fatal respiratory
arrest lasting several minutes during an orthodontic
impression for cleft palate. Another case reports
seizures provoked by obstructive apnea in a child with
CdLS. This child did not respond to anti-epileptic
medications and his seizures stopped with correction of
his upper airway obstruction.
In addition, most deaths of GIVO occur in the schoolage years, suggesting that increased survival of children
with CdLS in later years has allowed them to survive to
an age when GIVO is more common.
The majority of our study patients died from
respiratory causes. In contrast to clinically unsuspected
GI deaths, most respiratory infections were evident
prior to death, and patients generally presented with
fever and typical respiratory symptoms.
These cases highlight the importance of pulse oximeter
monitoring in the post-operative and recovery phases
of even minor procedures.
While many of these events can be attributed to the
severe (and often unrecognized) reflux and aspiration
associated with CdLS, it remains that patients with
CdLS seem more susceptible to life-threatening
respiratory infections. Indeed, many reports in the
existing medical literature suggest that people with
CdLS are more susceptible to infections that are often
antibiotic resistant.
1.800.753.2357
Children and adults with CdLS seem to be at a slightly
higher risk for accidental deaths, with accidents
accounting, in part, for 15 deaths in our sample (5.1
percent), compared to 4.7 percent of deaths in the
general population (2004).
continued on page 10
9
Winter 2012
Evaluation of Causes of Death con’t.
Increased pain tolerance and lack of communication
skills to describe pain and discomfort may lead to
accidents involving feeding tubes and bath scalding,
especially in institutions where caregivers are
responsible for several patients at a time.
Free CdLS Clinic for Teens and
Adults is April 28 in Baltimore
The next CdLS Multidisciplinary Clinic for Adolescents
and Adults is Saturday, April 28, at Greater Baltimore
It is important to recognize that many of these deaths
were related to peri-operative complications and to
withdrawal of care.
Medical Center (GBMC) in Baltimore, MD.
The free, daylong clinic is led by Foundation Medical
At least nine of the deaths in the study group were
directly related to withdrawal of medical care, although
they are listed under the primary cause of disease (i.e.,
pneumonia leading to intubation).
Director Antonie Kline, M.D., director of Pediatric
Twenty seven deaths were related to surgical
interventions. Whether these deaths represent true
surgical complications (i.e., post-operative pneumonias
and infections) or direct mortality from the primary
cause (i.e., congenital heart disease and emergency
surgery for intestinal perforation) is difficult to
determine; however, these deaths underscore the
importance of timely recognition of medical problems
and special attention, as well as initiating end-of-life
discussions among family members.
The twice-yearly clinic brings together individuals
Prospective studies will be needed to assess the value
of these interventions in the health outcomes for this
population. In the meantime, they seem prudent given
the specificity and prevalence of the adverse outcomes
and contribution to morbidity and mortality observed
in the study.
up to eight individuals and
If you have questions or concerns about the study
findings, speak with your child’s doctor or call the
Foundation at 800.753.2357.
For more information or to sign up for the April clinic,
Genetics at the Harvey Institute for Human Genetics
at GBMC.
ages 12 and over with specialists from a range of
fields, including ophthalmology, gynecology, dentistry,
otolaryngology (ear-nosethroat), gastroenterology,
nutrition, and behavior.
Clinics occur each spring and
fall and can accommodate
their families. A family
service coordinator from
the Foundation attends to
provide support.
Dr. Kline and a clinic attendee.
contact Deirdre at 800-753-2357 or
[email protected].
This article is derived from a longer paper written by Drs.
Ilana Scherer and Samantha Schrier with other members
of Dr. Ian Krantz’s group at the Children’s Hospital of
Philadelphia. Lynn Audette at the CdLS Foundation
gathered medical records and autopsy reports and provided
contacts for Dr. Jackson, who assembled these materials for
the research. Dr. Antonie Kline edited this final article.
REACHING OUT
10
www.CdLSusa.org
Foundation Welcomes New
Board Members
Richard Haaland, Ph.D., Atlanta, GA
Rich earned his degree from the Baylor College of
Medicine and is an HIV researcher with the Centers
for Disease Control. He sits on the Foundation’s
Research Committee and is a participant and volunteer
at the annual One Love, One Heart 5K to support the
Foundation. His brother Joey died from complications
of CdLS as a toddler.
The Foundation welcomes four new board members to
its class of 2014.
David H. Barnes, Esq., Manchester, NH
David is a long-time participant in the CdLS
Foundation New England Golf Tournament. He
earned his law degree from Cornell University and
specializes in healthcare and public finance law
at Devine, Millimet & Branch, Attorneys at Law,
Manchester, NH. He is the father of three children
including, Jack, 24, with CdLS.
Wendy Kaplan Miller, Esq., Palo Alto, CA
Wendy was previously a legal services attorney,
practicing housing and family law in Massachusetts.
She graduated from Harvard Law School and Amherst
College. While living in Boston, she was the board
secretary for Raising a Reader Massachusetts. Wendy
and her family, which includes Sam, 11, who has CdLS,
relocated to California in 2010.
Catherine Caron, C.P.A., Brentwood, NH
Katie is the founder of Caron and Bletzer, P.L.L.C., a
full-service accounting firm. She earned a master’s of
science in taxation from Bentley College. She is active
on the Foundation’s Finance Committee, has been a
Team CdLS Phantom Marathoner, and is the mother
of five children, including Nicholas, 7, who has CdLS.
WELCOME NEW FAMILIES
Amber and Alex and daughter
Samantha, born August 30, 2011
Alabama
Illinois
Jennifer and James and daughter
Abigail, born October 8, 2008
North Carolina
Shaquinda and daughter Makayla,
born July 8, 2006
California
Voncia and Louis and daughter
Xaniyah, born September 9, 2007
Ginger and Brandon and
daughter Gracey Bell, born
April 26, 2010
Pennsylvania
Bethany and daughter Isabelle,
born August 2, 2002
Florida
Alexandra and Boris and
daughter Katherine, born
September 25, 2011
Kansas
Shawna and Juan and daughter
Clareena, born
September 13, 2011
Maggie and Chip and son Charlie,
born October 7, 2011
Georgia
Glenda and grandson Richard,
born October 22, 1998
Maryland
Melissa and daughter Avery,
born August 4, 2011
Michigan
Talina and Charles and daughter
Bella, born May 4, 2010
1.800.753.2357
11
South Dakota
Yvonne and daughter Vanessa,
born December 18, 2003
Virginia
Tanisha and daughter Myracle,
born August 1, 2011
Winter 2012
Super Siblings:
“Stephanie doesn’t say a lot, but I can tell when she
likes something or not,” says Jennifer. “She was happy
we were all together, doing something fun. She was
all decked out and cheered us on as we ran.” After the
race, Stephanie—who loves animal prints—presented
Jennifer with a cheetah print sweater, just like one she
has herself.
Going the Distance
For two groups of siblings, the Baltimore Running
Festival was truly a family affair. Abbey and Bethany,
sisters to Alex, and Jennifer and Andrew,
siblings to Stephanie, hit the city’s
streets as part of Team CdLS—
Bethany, Andrew and Jennifer in the
5K and Abbey, who was nursing a
broken leg, on the sidelines cheering
the team on.
It wasn’t the first time the group has
come together. The siblings—who
range in age from 16 to 23 and hail
from western Pennsylvania—have
known each other most of their lives
due to their families’ involvement with
the CdLS Foundation.
Andrew finished in 21:47;
Jen in 25:12; and Bethany
in 34 minutes flat. Abbey
plans to run next year.
From left: Abbey, Jennifer, Bethany, and Andrew
For Andrew, a high school cross-country runner, the
race was a perfect way to support the Foundation.
Submit your Mailbag or
Super Siblings Story!
“The Foundation has done so much for my family, this
was a way to give back. Plus, it was a lot of fun to be
with all of our friends that we haven’t seen in a while.”
Send your story and photo to
[email protected].
His sister Jennifer, a special education teacher in
Maryland, had never run a 5K before and decided
it would be fun to join Andrew and to cheer on her
father, Mark, who ran the half-marathon.
“It’s important to be involved with CdLS events
because they help to raise awareness and promote
positive things to do with other families who are in the
same situation.”
For Bethany, who relocated to Baltimore after college,
it was her first 5K too. “It’s important to show support
for my brother, and to raise awareness of CdLS and
the Foundation,” says Bethany. However, she confesses
she enjoyed the actual race the most. “I’ve never run in
anything before and it was exciting.”
Alex and Stephanie, both age 20, attended the race. All
the siblings agree that it was pretty special seeing the
excitement in Alex and Stephanie’s faces as they cheered
from the sidelines.
REACHING OUT
Our Deepest Sympathy
Amy Christina Lilly
January 26, 1980 – September 8, 2011
Daughter of Trudy and Rodney Lilly
354 S 635 E.
Milan, IN 47031
Rhylie Nicole Pierce
February 25, 2010 – November 5, 2011
Daughter of Brianna Crook and granddaughter of Katie Gibson
132 Childers Lane
Fairmont, GA 30139
12
Vance Scott
June 3, 2009 – November 18, 2011
Son of Elisha Gardner and Nathan Scott
309 S Main St.
Lawrenceburg, KY 40342
Jarryd Fierro
September 6, 1995 – December 28, 2011
Son of Emily and David Fierro
10076 N. Pheasant Run Dr.
Fresno, CA 93730
www.CdLSusa.org
Mailbags
brought a depth of life and living to those families
that never would have been there without them. The
Cornelia de Lange Syndrome Foundation, which was
in its infancy when they were in theirs, continues,
in their names and the names of so many others, to
encourage, support, and connect families. Our four
families are eternally grateful for that.
–Dan, Allie, Emily, & Adam–
Dear Reaching Out,
In 1982 and 1983, four families began a journey that
has brought them hope, laughter, strength and support
through the years. That was when they met each other
at a state park in Maryland where the Cornelia de
Lange Foundation was forming itself. They came from
Virginia, Michigan and Ohio, each with a young child
with Cornelia de Lange Syndrome and each with other
children who had been brought along on this wild ride
by their brother or sister with CdLS.
Linda H., Adam’s mom
Indiana
– Stephen –
Dear Cornelia Family and Friends,
Like many of our families, I was told
Stephen would never make it to one
year old. When he had his first birthdayy
I was told he would never live to be
five years old and go to school. In the
picture, you will find my Stephen to be
28 years old.
Over the years, these four families sent pictures, got
together at early CdLS conventions, wrote letters,
made phone calls and eventually, when email came
along,
sent emails to each
a
other!
They knew that
o
this
t little group would
share
in the triumphs
s
Dan,
D Allie, Emily and
Adam
accomplished
A
and
a support them when
things
got rough.
t
I thought I would never make it through each new
year as Stephen was always very ill and in the hospital.
The hospital stays have stopped completely except if
another surgery needs to be done. And there already
has been many. He continues to be on many different
medicines daily. I don’t care how many he is on as long
as they all do their different jobs properly.
Those little babies with
CdLS grew up, as did the other kids in their families.
Weddings happened, job retirements took place,
grandchildren came along and one by one Adam,
Dan, Allie, and then Emily departed this life. In
August 2011, Jim and Mary, Curt and Mary, Sam and
Gayle, and Fred and Linda decided it was time to be
together again (see photo). They’d first met in a state
park all those years ago so they chose a state park in
southeastern Ohio, which was a convenient meeting
point for the Virginia, Michigan, Indiana and Ohio
couples to gather.
Stephen goes to Day Habilitation 4 days a week and
he really enjoys his days there. It is an actual working
farm. He sees the seeds planted, right through
harvesting time. He belongs to a recreation group, a
bowling group, a choir group, a men’s line dancing
group and a theatre group. Last summer he played the
king in the play Aladdin.
While on an outing last week one of the recreation
vans was in an accident. The driver called the van
that he was riding in for help. The driver of course
was driving that van. Stephen used his cell phone to
call 911! He had to give them all the information he
could. I am told he did a wonderful job. He is very
proud of himself and is everyone else.
They brought pictures, stories, laughter and tears. They
found support, love, a place where they could tell each
other how they felt and once again ask as they had
asked of each other so many times… “How did you
get through this, what did you do, how are your kids
and grandkids handling this, what happens now?”
Robin, Stephen’s mom
New York
Allie, Emily, Adam, and Dan turned their families’
lives upside down but Allie, Emily, Adam and Dan
1.800.753.2357
Stephen
13
Winter 2012
A Walk to Remember
Sarah’s Bowl
An early morning frost on a December morning didn’t
shadow the warmth that generated from the group of
walkers and runners that gathered for the annual One
Love, One Heart 5K walk/run at Medlock Park in
Decatur, GA.
In Batesville, IN, November 6 was all about swing
shots, side-arming and lofting as bowlers came together
to raise money in honor of a little girl named Sarah.
Families and friends gathered to participate in the Third
Annual Sarah’s Bowl for CdLS, a bowl-a-thon hosted by
Sarah’s mom, Anne (pictured with Sarah below).
For the last seven years, parents and relatives of children
with CdLS, friends and volunteers have joined the
Pomfret family to honor their daughter, eight-year-old
Maya, and raise money
for the CdLS Foundation
(an impressive $16,000
in 2011). This year’s race
was especially momentous.
As the race neared
completion, everyone
waited in anticipation as
Maya (pictured) crossed the
finish line on her own two
feet for the very first time.
In between each strike, spare or inevitable gutter ball,
a silent auction encouraged friendly bidding wars.
Bowlers and non-bowlers alike mingled in their official
Sarah’s Bowl t-shirts, while enjoying food and drinks
throughout the day.
Everyone who attended saw
how much hard work and
dedication Anne put into the
event—getting sponsors and
donations, recruiting bowlers,
and working out every detail
so the day would go without a
hitch.
All of her hard work paid
off, with the event raising
more than $10,000 for the
Foundation.
Maya’s race had been one
of courage and determination. Only a year ago, she
took her first steps. She has not stopped walking since.
Born a mere three pounds, she spent the first month
of her life in the NICU. She was a fighter then, and
continues to be a fighter today, surprising her family
and teachers every day.
2012 CALENDAR
March 23-24
Board of Director’s Meeting
Hartford, CT
April 28
Arzillo Industries Invitational
Softball Tournament
Virginia Beach, VA
March 31
Family Gathering
Stowe, VT
May 12
National CdLS Awareness Day
April 28
May 21
CdLS Multidisciplinary Clinic
for Adolescents and Adults
Baltimore, MD
REACHING OUT
June 20
June 21 – 24
CdLS Foundation National
Family Conference
Lincolnshire Marriott Resort
Lincolnshire, IL
June 20
July 14
Lapel Village Fair
CdLS Benefit 5K
Lapel, IN
CdLS Foundation Golf
Tournament
Crane’s Landing
Lincolnshire, IL
CdLS Foundation Scientific &
Educational Symposia
Lincolnshire Marriott Resort
Lincolnshire, IL
20th Annual New England
Golf Tournament
Ipswich, MA
14
July 15
Merrell Down & Dirty in Philly
5k and 10k off-road course
Philadelphia, PA
www.CdLSusa.org
Foundation awarded for
money management
Mark Your Calendar for
CdLS Awareness Day
The Cornelia de Lange Syndrome (CdLS) Foundation
recently received two awards for sound fiscal
management.
National CdLS Awareness Awareness Day
Day is Saturday, May 12.
There are lots of ways
you can raise awareness Cornelia de Lange Syndrome Foundation
of CdLS among your
neighbors, friends and family, medical professionals,
and the media.
Charity Navigator, a
premier national charity
evaluator, awarded the
Foundation its 4-Star
Rating. This four-out-of-four star rating is awarded to
just one quarter of U.S. charities. Charity Navigator
bases its ratings on an organization’s financial practices
and commitment to accountability and transparency.
The Foundation provides all the materials you need,
from press release and letter to the editor templates, to
awareness fliers and bookmarks. We can even help with
a presentation or an event.
The Foundation also received the Independent
Charities Seal of Excellence. This
award is given to organizations that
demonstrate the highest standards of
public accountability and program
cost effectiveness. Of the 1,000,000
charities operating in the U.S., fewer
than 2,000 are awarded this seal.
Email [email protected], call 800-753-2357 or go
to www.CdLSusa.org and click the Get Involved tab.
ansform. Soar.
tional Family Conference 2012
Grow. Transform. Soar.
CdLS Foundation National Family Conference 2012
The
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.
Grow. Transform. Soar.
To purchase your butterfly, go to www.CdLSusa.org and look for the
butterfly “button” on the home page or call 800-753-2357.
CdLS Foundation National Family Conference 2012
1.800.753.2357
15
Winter 2012
Grow, Transform and Soar
at Conference 2012
This workshop provides families and professionals with
information on different ways children with CdLS can
communicate. Topics covered include alternative ways
a child can communicate at home and in school and
determining what system or
adaptive equipment is best.
There’s still time to register for the CdLS Foundation
National Family Conference, taking place June 21-24
in Lincolnshire, IL. If you’re still on the fence about
attending, take a look at some of the workshops and
general sessions offered.
Creating a Future Care Plan
for Family Members with
Special Needs
Protected Tomorrows, Inc.
ABCs of Feeding
Cheri Carrico, Ph.D., C.C.C.-S.L.P., Elmhurst College
During this session, parents
will learn how to apply for
government benefits such
as SSI, SSDI, Medicare,
and Medicaid, and how
to set up wills and trusts so not to disqualify loved
ones from benefits in the future. The session is lead
by Protected Tomorrows, Inc., an advocacy firm that
enhances the lives of people with special needs through
a comprehensive life planning process.
Dr. Carrico will discuss feeding concerns as they relate
to CdLS and how to determine when a child is ready
to eat.
Gastroenterology Issue: Signs, Symptoms and
Treatment Options
Kathleen Loomes, M.D., Children’s Hospital of
Philadelphia
In addition to providing an overview of common
gastrointestinal concerns, Dr. Loomes will talk about
how to identify reflux and other complications,
treatment options for GI issues, and the various types
of tube feedings.
Behavior Issues
Julia O’Connor, Ph.D., Kennedy Krieger Institute
Grow with Me. The Success of Adults with CdLS
Panel
This workshop covers behaviors often seen in
individuals with CdLS and/or autism, contributing
factors affecting behaviors and possible treatment
option.
This panel session highlights the achievements and
successes of adults encompassing the whole spectrum of
CdLS. Individuals will share their challenges, successes
and future goals, and take questions from the audience.
Communication Issues
Marjorie Goodban, Ph.D, C.C.C.-S.L.P.,
Elmhurst College
Making Lemonade
Candee Fick
Dr. Goodban will provide families and professionals
with information on communication issues related to
CdLS, as well as the latest research in the field.
When life gives you lemons, how you approach,
process, and transform them makes all the difference.
Candee Fick, an author and mother to a teenage
daughter with CdLS, will use real life experience for
this uplifting presentation.
Communicating without Words
Shelly Champion, M.Ed., and Lucy Nutt, S.L.P.
REACHING OUT
16
www.CdLSusa.org
Medical and Research Update
Panel
CdLS Foundation
Golf Tournament
A panel of CdLS experts from many different fields
will educate the audience on the most current medical
and research information on CdLS and how it relates
to caring for individuals with the syndrome. Audience
members also have the opportunity to pose their
questions to panel members.
Join us for the
CdLS Foundation Golf Tournament
Wednesday, June 20, 2012, at
Nutrition Recommendations and Treatments
Loretta Harvey, M.S., R.D., University of Maryland
Dietitian Loretta Harvey will discuss dietary and
nutritional information essential in caring for
individuals with CdLS. Topics will include allergies,
caloric needs and ways to manage constipation and
diarrhea.
at the Lincolnshire Marriott Resort
As always, there will be private consultations with
specialists, meetings for moms, dads and grandparents,
Meet the Experts, and much more.
Help kick off the 2012 CdLS National Family
Conference with a fun-filled afternoon of golf at
Crane’s Landing, a certified Audubon Cooperative
Sanctuary. The event offers golfers an array of
challenges and an opportunity to support the CdLS
Foundation and the National Family Conference.
To learn more or to register for conference, click on the
Conference 2012 button on our home page
(www.CdLSusa.org) or call 800-753-2357.
We need both golfers and volunteers. If you’re
interested, contact Gail at [email protected] or
800-753-2357.
MATCH IT! CHALLENGE
I want to support the future of the
National Family Conference
Enclosed is my tax-deductible gift of:
‪ Other $
‪ $500 ‪ $250
‪ $100 ‪ $50
‪ $35
‪ I have included the CdLS Foundation in
my will or trust
All donations matched up to $10,000!
1.800.753.2357
‪ 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.
17
Winter 2012
Donations from 10/13/2011 through 12/25/2011
Colin Bell
Gifts that Count Jean and Verne Cowan
Celebration
Stephanie Johnston
Adam Jackson
Dotty and Dan Steimke
Adrian Raya-Fouts
Toni and Peter Maguire
Alex Black’s Graduation
Marjorie and Douglas Jessen
Rebecca K. Costello
Alex Boneberg
Kate Glenn
Allie Boteler’s 16th Birthday
Donna Fell
Doris and Elliot Flood
Andrew Onderdonk’s 10th
Birthday
John T. Crowder
Andrew Patitucci
Coreen E. Tossona
Joan and David Hanisco
Nancy E. Tossona
Barb and Shreve Johnessee
Penelope and Jim Pomfret
Beth Patitucci’s 40th Birthday
Coreen E. Tossona
Paul Patitucci
Connor Myrthel
Kerry and Robert Myrthel
Willing Workers of Paradise
Valley
Daniel Kliewer
Ira J. Dunkel
Kathleen and BrianRulka
Daniel Mathews
Barbara and Joe Knobbe
Deb and Mark Bennett
Jody and Robert Light
Devon Webster
Judi and Don Schroeder
Joel Meyer
Sharon and Jay Zite
Diane Friedman’s Birthday
Andrea and Marc Needlman
Ellen Braverman and Robert
Fishel
Howard Braverman
Joel Needlman’s Birthday
Andrea and Marc Needlman
Diane Miller’s 80th birthday
Myrna and Alan Kaplan
Eric Loftus
Annette Loftus
Karen Szukalski
Brandt Anderson’s 9th Birthday
Fran and Wayne Shull
Eric Solomonson’s 10th Birthday
Carol Rodman
Gordon P. Gnasdoskey
Caitlin Igoe
Kate and Michael Law
Erik Oberg
Doreen and Michael Chapman
Caitlynn Jacobsen
George Jacobsen
Ethan Walters
Penelope M. Keating
Roberta and John Phin
Char and Al Bennett
Jody and Robert Light
REACHING OUT
Jared Koelling’s 7th Birthday
Melissa and Jerry Koelling
Jenna Allen’s Birthday
Donna and Doug Allen
Ella Grace Musial
Farrah Kennedy
Carl Bentson
Karen A. Koeppe
Jake Marcus
Carrie and Scott Radomsky
Denise Volsic
Winona Woods
Bobbi and Steve Paris’s 50th
Wedding Anniversary
Myrna and Alan Kaplan
Caleb Wherry’s 7th Birthday
Kathy and Andy Wood
Jaclyn Fielder’s High School
Graduation
Dallas Rasberry
Delores A. Chaney
Jordan Fielder
Karen Martin
Jared Miller
Jamie Greenawalt
Doug Canning
Denise and Cliff Peasley
Caleb George-Guidry
Jackie and David Guidry
Jack Pollard
Shirley and Jim DeSantis
Delaney DeMaria
Vincent A. Berardini
Beulah Patisaul Browne
Kimberly and Rich Patisaul
Bozena Geraghty’s 21st
Birthday
Susan Goro
Iselen Rosvik
Synnove Rosvik
Frances Wein’s 89th Birthday
Andrea and Marc Needlman
Lois F. Braverman
Frank Leone
Josephine M. Vieira
Gretchen Heinrich’s 29th
Birthday
Ellen and Dan Smock
Jonathan Swanson’s 10th
Birthday
Beryl Weidenbach
Sue and Jess Soltess
Theodore Weidenbach
Josh Ackles
Barry W. Pugh
Carole and Richard Chapman
Laurie Churchman
Joy, Shelley and Roy Jensen
Mary Ann and Gary Bartels
Lee Blumenthal’s Special
Birthday
Myrna and Alan Kaplan
Leigh Carlton Rzepecki
Susan Carlton
Logan Fowler
Christl and Dieter Schambach
Emory and Sydney Wishon
Mary and John Cavalieri
Luke Lyons
Claudette and Joseph Romano
Manny Garcia’s Birthday
Katherine Gatje
Margaret Keeling
Booker T. Washington Alumni
Organization
Marilyn Robbins’ Special
Birthday
Myrna and Alan Kaplan
Marlon Adams
Norma Adams
Mary Fiori
Carolyn and Ted Williams
Mason Linehan
Alycia McPeak
Hailie Morehead
Maya Pomfret
Jackie and John Kurelja
Melanie and Kathy Horn
Amy and Don Franco
Nicole Miller
Jody and Eric Miller
Karen and Jim Miller
Shauna and Rob Dahl
Nicole Zampino
Janice Zampino
Olivia Hoogland’s 1st Birthday
Sandra and Kevin Hoogland
Olivia Roberts
Peter Militano
Olivia Tiongson’s 6th Birthday
Nicole and Phil Tiongson
Paige Olson’s 24th Birthday
Dawn and Steve Olson
Payton McDonald
Karen and Bill McDonald
Rachel Dillman
Carol and Harold Stahlhut
Karen and Ron Ehmer
Riley Rissland
Anne and Wesley Johnson
Sam and Henry Miller’s
Birthdays
Linda and Andrew Kaplan
Anonymous
Sam Miller’s Birthday
Beth and Rob Martin
Susan and Michael Brown
Sandra and Stuart Kaufman’s
Anniversary
Diane and Michael Friedman
Julie Champion
Gael and Bill Hoysgaard
Winifred Connor
Mikayla Needlman
Diane and Michael Friedman
Ellen and Robert Braverman
Julie D. Goldstein
Natalie Zellner
Rona Bezman
Karl Stenerson’s 13th Birthday
Sheila and John Ackland
The Miller Family
Peter W. Bell
Susan Lipsitz’s Special Birthday
Myrna and Alan Kaplan
Karla Casey
Sonia and Ike Casey
Mindy Webb
Catherine Webb
Tara Kimmel
Brook and Carey Sipe
Katie Engwell
Helen and Darrel Engwell
Molly Wagner
Elizabeth L. Wagner
Thomas Russo
Kathleen A. Lafazia
Rhonda M. Boehm
Katie Luyt
Warren Davidson
Natalie McClain
Heather Barton
Kayla M. Prink
Debra Ganzen
The Needlman Family
Lois F. Braverman
K.J. Rowe
Jerry Peterson
Nicholas Sneckenburg
Susan and Chris Hansen
Sofia Teixeira
Valerie and John Schlapp
Stephen Campi
Cathy and Dom Campi
The Van Burens
Susan and Raymond Carlton
Vito Cappiello
Diane and Michael Friedman
Vivian Comeau
Tracey Maguire
Kole Beaman
Doneta Vrska
18
www.CdLSusa.org
Gifts that Count Memorial
Karen Prada
Phil Breasher
James J. Fenske
Mary J. Fenske
Quentin Hoppenworth
Marilyn Hoppenworth
Allan Grossman
Arleigh Grossman
Donald W. Harder
Gloria and Howard Harder
Irma B. Munz
Jarryd Fierro
Board and Staff of the CdLS
Foundation
Rachel Penedos
Sheila Penedos
Allison Tryba
Susan and Lyle Tryba
Tori and Jim Stephens
Veronica and Ernest Tryba
June and Walter Klaus
Lauren M. Fosco
Linda A. Boyd
Jason L. Brockstein
Heidi and Bruce Brockstein
Amber Dawn Wagner
Kate and Joel Harvie
Amy Christina Lilly
Board and Staff of the CdLS
Foundation
Ann J. Potts
Joanne and Stephen Gersuk
Antonette Mazzella
Alda Houchin
Audrey Sherga
Frances and John Sparks
Karen and Ron Sherga
Benjamin Lipson
Diane Miller
Elizabeth and Mark Burnett
Beth Tandy
Karen Prada
Brian Anderson
Robert Beksel
Brian Leung
Allison and Sid Leung
Caleb Cox
Helen R. Brothers
Cheryl Davis
Joyce and Jim Kesting
June Drum
Leona R. Morton
Linda and Tom Tawfall
Patricia and Gregory Faherty
Risha and Paul Gaines
Teddy and Bob Garagiola
Cindy and Vicki Kaspar
Ronald Kaspar
Cori Conklin
Jeanne and Ken Conklin
Daniel Eriksson
JoAnn and Eric Eriksson
Delores Barletta
Alice Y. Lucich
Bonnie Webber
Elaine and David DeLash
Joanne and David Stewart
John G. Lopes
1.800.753.2357
Duane W. Fuller
Barbara Ann and Duane Fuller
Edie Sands
Myrna and Alan Kaplan
Elizabeth C. Donovan
Christina and Bert Donovan
Ella Alfonso
Red Hat, Inc.
Emily G. Marston
Christine Marston
Eugene C. Ford
Janet and Emory Lewis
Julia and William Geier
Maureen Goyette
Phyllis Marston
Emily K. Johnson
A. M. Johnson
Lynda and Jay Steller
Eric Sagritalo
Dawn and Steve Olson
Grace D. Truong
Boumy and Khamphouy
Douangpraseuth
Gregory Stephen Solis
Andrea S. Woods
Elaine and Al Hawkins
Ionia P. Reynolds
Joanne and Stephen Gersuk
Teresa Ojeda-Lopez
Honoring Henry Tarczewski in
memory of Allison Tryba
Veronica and Ernest Tryba
Hilary A. Stokes
Linda and Joel Stokes
Ian P. Gibbon
Glorianna Gibbon
Irene Pruitt
Tammy and Jay Schaab
Irving Morrison
Diane Miller
Jaelah Giles
Stacy and James Arellano
Jeffrey Parker
Carol and Charles Parker
Jennifer Rebenack
Amy P. Meyer
Christine T. Harrill
Judie Farhat
Nicholas M. Moussa
Traci and Narciso Tauler
Renee Santia
Zelma J. Ono
Rick Adams
Jo Ann Larsen and Te An Yu
Joy and Alan Richardson
Reta Larsen
Julie Giles
Stacy and James Arellano
Robert J. Brennan
Anne C. Crotty
Briarwood Manor Association
Carol and Bill Clark
David J. Williams
Ellen R. Abele
Home Builders Association of
Greater Toledo
Jacqueline and Randy Kuntz
Jean and Allen McGreevy
Kathleen and Christopher
Herbert
Kelly and Douglas Haack
Kevin Smith
Linnie B. Willis
Mary and Frederick Koralewski
N. J. Wilhelm
Susan and George Conklin
Susan and Ronald Cline
Timothy Oleary
Victoria Sweeney
Karen Tallarico
Mike Tallarico
Robert Lester Fisher
Doris and Bob Weinberger
Katarina M. Stratton
Briana and Andy Stratton
Rhylie Nicole Pierce
Board and Staff of the CdLS
Foundation
Jindi H. Van Buren
Gladys Preuss
Wendy and Stephen Start
Joanne Tanzi
Alda Houchin
John Tutone
Salli and John Viola
John Viola Sr
Margaret and Todd Napolitano
Kimberly Welborn
Marilynn Welborn
Larry Poznick
Sue and Jess Soltess
Liddy Horsey
Jill and Andrew Stefanovich
Karen Manning and Thom
Horsey
Vicki and Brad Haneberg
Maddy Jackson
Britta Scullion
Marilyn Amick
Mary Behrens
Robert D. Loose Funeral
Home, Inc.
Michael Gonella
Anna and John Gonella
Char and Dan Partelow
Donna and Norman Gleit
Sue and Raymond Molinari
19
Vicki Fisher
John Fisher
Please note that
donations are now
listed in alphabetical
order by first name.
Sara Peracchio’s 30th Birthday
Amelia Varca
Rina and John Bigotto
Sean Brisbane
Valarie J. Singleton
Sherwin Brick
Sharon and Jay Zite
Stan Panero
Patricia and Julian Bordona
Stella Tetrault
Margaret T. Walters
Sylvia Parr
Clarissa and John Sweeney
Terry Kline
Myrna and Alan Kaplan
Vance Scott
Board and Staff of the CdLS
Foundation
Winter 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
Whether you’re a 5K-er or a marathoner, or prefer mud to pavement, we have
your race. Teams are forming for runs in Chicago, New York, Baltimore, and
more. Pick your race, choose your distance, and make a difference. Don’t see one
near you? Form your own Team CdLS. We can help. Call Gail at 800.753.2357
Down and Dirty (PA) · New England Spartan Sprint (MA) · Maddy’s Run 5K (UT) · Bank of America Chicago Marathon (IL) · ING Hartford
Marathon (CT) · Baltimore Running Festival (MD) · ING New York City Marathon (NY) · One Love, One Heart 5K (GA) · Saratoga Palio (NY)