COMMUNITY CALENDAR

SEPTEMBER 2015

Evaluating and Diagnosing Rare Diseases

Most genetic conditions are a spectrum that can present throughout the life
cycle, anywhere from in utero up through
advanced geriatrics, says Debra-Lynn
Day-Salvatore, MD, PhD, FAAP, FACMG,
who chairs the Saint Peters University
Hospital Department of Medical Genetics and Genomic Medicine. The disorders can be a mystery until a diagnosis is
made. The goal of screening newborns
is to test for conditions so that that they
can be offered treatment before they
start having symptoms. Early treatment
is the key if life-threatening complications
are to be avoided later in the childs life,
explains Dr. Day-Salvatore.
Newborn screening
Newborn screening began nationally
in 1963 using a method developed by
microbiologist Dr. Robert Guthrie to test
infants at birth for a genetic disorder
known as phenylketonuria (PKU). Testing, early detection and treatment can
help prevent irreversible neurological
damage. Screening requirements differ
from state to state but all states require
screening for at least 26 conditions.
Currently hospitals in New Jersey are
mandated to screen for 54 geneticallyinfluenced disorders 44 metabolic
conditions, two endocrine disorders,
four hemoglobin disorders, and four
others that include Cystic Fibrosis,
congenital hearing impairment, critical
congenital heart disease, and severe
combined immunodeficiency, explains
Dr. Day-Salvatore.
The lysosomal metabolic conditions hospitals will screen for in 2016 are:
Gaucher disease affects liver,
spleen, bones and bone marrow
Fabry disease affects kidneys, heart
and skin
Krabbe disease affects the nervous
system

decrease sometimes life-threatening

medical complications, failure to provide
cutting-edge therapeutic options, and
diminished quality of life. Rare diseases
are lifelong and at least 80 percent are
known to have a genetic cause.

Photo courtesy of John OBoyle

By law, every baby born in New Jersey

must be screened shortly after birth for
disorders, many of which are genetic,
that can cause serious health complications. In 2016, the New Jersey Department of Health will require that every
newborn also be screened for seven
additional rare diseases six lysosomal
storage disorders as well as X-linked
adrenoleukodystrophy. The conditions
are not new, but they are typically discovered only when children develop
symptoms.

Dr. Debra-Lynn Day-Salvatore with patient

Jose Rosales who receives treatment at
Saint Peters Department of Medical Genetics
and Genomic Medicine.

Niemann-Pick disease affects the

spleen, liver and lungs
MPS1 (Hurler Syndrome) affects
the spleen, liver, joints and eyes and
causes developmental issues and
deafness.
X-linked adrenoleukodystrophy, the other
condition for which newborns will be
screened, affects the nervous system and
the adrenal glands. The condition was
made famous by the movie, Lorenzos
Oil, which starred Susan Sarandon as a
mother seeking treatment for her son.
The Saint Peters University Hospital
Department of Medical Genetics and
Genomic Medicine is home to one of the
largest, most comprehensive lysosomal
disease therapy centers in the United
States. The department evaluates, manages and treats rare diseases identified
at birth or later. Reena Jethva, MD, who
is board certified in Pediatrics, Clinical
Genetics, and Biochemical Genetics, recently joined the staff. The Saint Peters
genetics team is also made up of genetics counselors, nurses, a metabolic
nutritionist and a pediatrician. Expanding
education and outreach to local physicians and the community are among the
departments priorities in the new year,
especially in light of the new screening
requirements.
Treatment of rare diseases
It is estimated that there are approximately 7,000 rare diseases affecting 30
million Americans, 50 percent of whom
are children. Diagnosis of rare diseases
is commonly delayed, if it is ever made
at all; resulting in unnecessary testing, missed opportunities to avoid or

Saint Peters University Hospital has

provided comprehensive clinical genetic
services to tens of thousands of patients
during the past 25 years. During the
past 14 years alone, individuals have
been referred for evaluation, diagnosis,
management, treatment, counseling, and
emotional support for more than 2,000
different conditions.
As a state-designated regional center
for newborn screening and genetic
services, the Department of Medical
Genetics and Genomic Medicine provides inpatient and outpatient services
to patients of all ages with a variety of
genetically-influenced conditions including abnormal newborn screens, confirmed inborn errors of metabolism, birth
defects, chromosome abnormalities,
hearing impairment, craniofacial and genetic bone disorders, autism spectrum,
cancer, and diseases of the heart, lungs,
kidneys, brain, skin, muscles, eyes, and
gastrointestinal and genitourinary tracts.
Saint Peters provides trials for drugs
used in the treatment of disease and
services that include a broad range of
pre-conception, prenatal, and postnatal
genetics counseling as well as pregnancyspecific management and treatment
of maternal metabolic, lysosomal, and
genetic conditions.
Dr. Day-Salvatore says advances in genetic testing not only bolsters the clinical skills required to make an accurate
diagnosis, but should lead to improved
therapeutic options.
These diseases are slowly progressive
and are often not identified until irreversible harm has occurred, says Dr. DaySalvatore, who serves as chair of the
New Jersey State Metabolic Task Force.
Identifying patients who would benefit
from early management and treatment
will help avoid significant long-term morbidity and unnecessary mortality.
Call 732-745-6659 for more information
about Saint Peters newborn screening
program.

A LISTING OF PROGRAMS OFFERED THIS MONTH CAN BE FOUND ON THE REVERSE SIDE.

NEED A DOCTOR? TO FIND A SAINT PETERS PHYSICIAN, CALL 1-855-SP-MY-DOC (1-855-776-9362).

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Alzheimers/Dementia Caregivers Support Group

JULY 13, 10:00 AM 11:30 AM

Saint Peters Adult Day Center

SEPTEMBER 2015
All programs are designed for community members and are held at Saint Peters University Hospital, unless otherwise noted.
For more information or to register for a program, call the contact number listed or visit saintpetershcs.com/newsandevents.

SUPPORT
GROUPS
Autism Family Support Group
SEPTEMBER 13, 3:00 PM 5:00 PM
877-886-9462

Alzheimers/Dementia Caregivers
Support Group
SEPTEMBER 8, 10:00 AM 11:30 AM
Saint Peters Adult Day Center
200 Overlook Drive, Monroe Township
Rachel Kallish, CSW 609-655-6853

Bereavement Support Group

SEPTEMBER 3 & 17, 7:00 PM 8:30 PM
732-745-8565

Caregivers Support Group/Monroe

SEPTEMBER 10, 1:30 PM 3:00 PM
Saint Peters Adult Day Center
200 Overlook Drive, Monroe Township
Stephanie Fitzsimmons-Sexton, RN, APN
609-655-2220

SHARE Support Group

(for those who have suffered miscarriage, stillbirth

or neonatal death)

SEPTEMBER 10, 7:00 PM 9:00 PM

Irina Mariano-Brown, MSW, LCSW
732-745-8522

CANCER
SUPPORT
Breast Cancer Support Group

SEPTEMBER 21 ONLY, 7:00 PM 8:30 PM

Registration required.
Cancer Institute of New Jersey
Deborah Leif, MSW, LCSW 732-235-7011

Free Healthy Steps Exercise Class for

Cancer Survivors
TUESDAYS, 6:00 PM 7:00 PM
THURSDAYS, 10:00 AM 11:00 AM

Saint Peters Sports Medicine Institute

562 Easton Avenue, Somerset
Call 732-745-8570 to register. Must have medical
clearance from a physician.

Gynecologic Cancer Support Group

SEPTEMBER 8, 7:00 PM 8:30 PM

Cancer Institute of New Jersey 732-235-6792

Latina Women with Cancer

Support Group
SEPTEMBER 12, 10:00 AM 1:00 PM

COMMUNITY
MOBILE HEALTH
SERVICES
For more information about

DIABETES
EDUCATION
Childrens Insulin Pump Group
SEPTEMBER 8, 6:30 PM 8:30 PM
732-745-8600, x8751

screenings and educational

programs, please call 732-745-8600,
x8903.

Blood Pressure/Blood Sugar Screenings

SEPTEMBER 18, 9:30 AM 10:30 AM
New Brunswick Senior Center
Residents only.

Diabetes Education Support Group/

New Brunswick
SEPTEMBER 16, 10:30 AM 11:30 AM
Center for Ambulatory Resources (CARES)
240 Easton Avenue, New Brunswick
For more information, call 732-339-7630.

Diabetes Self-Management Education

HELD MONDAYS AND TUESDAYS

SEPTEMBER 30, 12:30 PM 2:00 PM

SHIPS at Saint Johns Episcopal Church,
Somerville

Registration and doctors prescription required.

732-745-6667

Blood Pressure/Blood Sugar/

Cholesterol Screenings/Flu Shots
SEPTEMBER 11, 8:00 AM 3:30 PM

Gestational Diabetes
Self-Management Class
HELD WEDNESDAYS AND THURSDAYS

Michael Foods, Elizabeth

Employees only.

Registration and a doctors prescription required.

732-745-6667

Blood Pressure/Blood Sugar/

Diabetes Education Support Group/
Cholesterol Screenings & Sun Damage
Screening Using the DermaScan Machine New Brunswick
ENGLISH
SEPTEMBER 16, 10:00 AM 3:00 PM
SEPTEMBER 8, 10:00 AM 11:30 AM
American Standard Brands, Piscataway
Employees only.

SPANISH
SEPTEMBER 1, 10:00 AM 11:30 AM

Blood Pressure/Body Mass Index

Measurement & Nutrition Information
SEPTEMBER 24, 6:00 PM 8:00 PM

Saint Peters Family Health Center

123 How Lane, New Brunswick
Call 732-339-7627 for more information.

Van Derveer Elementary, Somerville

Staff and parents only.

PARENT
EDUCATION
For information, fees and registration, call Parent

Bone Density Screening

SEPTEMBER 9, 9:00 AM 11:00 AM

EMS EDUCATION SERIES

THURSDAY, SEPTEMBER 24
7:00 PM
TOPIC: PATIENT ASSESSMENT REVIEW
Free; refreshments served. CEU credits.
Call 908-238-3254 to register.

BARIATRIC WEIGHT LOSS

SEMINAR
THURSDAY, SEPTEMBER 10
7:15 PM - 9:30 PM

For more information, and to register,

call 732-745-8600, x8159.

RARITAN RIVER FEST

SUNDAY, SEPTEMBER 27
NOON 5:00 PM

Boyd Park, New Brunswick

Community Mobile Health Services staff will
be providing screenings and education at this
annual fall city event.

LOOK GOOD FEEL BETTER

PROGRAM
MONDAY, SEPTEMBER 28
4:00 PM - 6:00 PM

Radiation Oncology Department

Conference Room, Ground Floor
American Cancer Society program for women
undergoing treatment for cancer. Registration is
required for participation. For more information,
call 1-800-227-2345.

FREE
Education at 732-745-8579, unless otherwise indicated. COMMUNITY
Baby Care
LECTURES
SEPTEMBER 20, 9:00 AM 1:00 PM

Ethicon, Somerville
Employees only.

Health Fairs & Events

SEPTEMBER 12, 10:00 AM 2:00 PM
Cranbury Day
Main Street, Cranbury

SEPTEMBER 14 & 21, 7:00 PM 9:30 PM

Breastfeeding Class
SEPTEMBER 19, 9:00 AM 11:30 AM

SEPTEMBER 19, 11:00 AM 2:00 PM

Franklin Day Festival
Colonial Park, Franklin

Breastfeeding Support Group

SEPTEMBER 4, 1:00 PM 2:30 PM

SEPTEMBER 22, 9:30 AM NOON

Infant Massage
SEPTEMBER 15, 6:00 PM 7:30 PM

Old Bridge Senior Center

Residents only.

New Mom Support Group

SEPTEMBER 4, NOON 1:00 PM

SEPTEMBER 23, 10:00 AM NOON

Sister Marie de Pazzi Conference Center

Light lunch will be served. Free, but registration
requested. Sessions conducted in Spanish.
Call 908-658-5400 for more information.

Middlesex County Association of Realtors

Perth Amboy
Members only.

Living with Cancer Support Group

SEPTEMBER 9 ONLY, 7:00 PM 8:30 PM

Somerset Senior Center, Franklin

Residents only.

Prenatal Yoga and Exercise Class

Hearing Screening
SEPTEMBER 3, 2:00 PM 3:30 PM

WEDNESDAYS AND FRIDAYS

7:00 PM 8:30 PM

Cancer Institute of New Jersey

Barbara Hale, LCSW 732-235-7557

SPECIAL EVENTS

Postnatal Yoga and Exercise Class

(four-week sessions)

FRIDAYS, 6:00 PM 7:15 PM

Registration required.

SEPTEMBER 29, 10:00 AM 2:00 PM

(four-week sessions)

Registration required.

DeForest B. Soaries, Jr. Residences

at Somerset, Franklin

Prepared Childbirth Classes

MONDAYS, THURSDAYS, OR ALL-DAY
SESSIONS SECOND AND FOURTH
WEEKENDS

Nutrition Talk
SEPTEMBER 17, 11:30 AM 12:30 PM
American Standard Brands, Piscataway
Employees only.
Presenter: Laura Vetter, RD

Registration required.

Sibling Class
SEPTEMBER 19, 12:30 PM 1:30 PM

Sun Damage Screening using

the DermaScan Machine
SEPTEMBER 30, 10:00 AM 11:00 AM

Are you at risk for diabetes

and hypertension?

Perth Amboy Office on Aging

Residents only.

If you do not have insurance or not enough

of it to manage chronic illnesses such as
diabetes and hypertension, call Saint
Peters Diabetes and Hypertension Center
at Saint Peters Family Health Center, 123
How Lane, New Brunswick, at 732-339-7672.

Vision Screening
SEPTEMBER 24, 9:00 AM 11:00 AM
Johnson & Johnson, New Brunswick
Employees only.

Breast Health
SEPTEMBER 2, 3:00 PM

Presenter: Lisa Hopkins, MD, Breast Surgeon

Regency Adult Community, Monroe Township

Preventive Foot and Ankle Care

SEPTEMBER 2, 1:00 PM

Presenter: Ben Gujral, DPM, Podiatrist

Stonebridge Adult Community, Monroe Township

10 Steps to Healthy Digestive Habits

SEPTEMBER 8, 1:30 PM

Presenter: Arkady Broder, MD,

Gastroenterologist
Concordia Adult Community, Monroe Township

Fitness and Nutrition

SEPTEMBER 14, 1:00 PM

Presenter: Sang Song, DO, Physiatrist

Rossmoor Adult Community, Monroe Township

MATERNITY TOURS
View our interactive maternity tour,
which includes pictures of our private
labor and delivery suites and our
modern mother/baby units, at www.
saintpetershcs.com/MaternityTour to
get an idea of what you can expect
when you deliver at Saint Peters.
To schedule a tour, call Parent
Education at 732-745-8579.

This calendar is for information only. Do not rely on it to make healthcare decisions on your own; instead, talk with your healthcare provider for advice and treatment. Do not ignore medical advice or delay seeking
it because of something you read here. We do not suggest or endorse that you have any tests, use products, or use other information in this document without advice from your healthcare provider.

254 Easton Avenue, New Brunswick, NJ 08901

732-745-8600

Catholic hospital sponsored by the Diocese of Metuchen

800-269-7508

www.saintpetershcs.com

| State-designated childrens hospital and regional perinatal center

| Affiliate of The Childrens Hospital of Philadelphia

Major clinical affiliate of Rutgers Biomedical and Health Sciences

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