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Evaluating and Diagnosing Rare Diseases
Evaluating and Diagnosing Rare Diseases
SEPTEMBER 2015
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
A LISTING OF PROGRAMS OFFERED THIS MONTH CAN BE FOUND ON THE REVERSE SIDE.
8/18/15 7:29 PM
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
CANCER
SUPPORT
Breast Cancer Support Group
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
Gestational Diabetes
Self-Management Class
HELD WEDNESDAYS AND THURSDAYS
SPANISH
SEPTEMBER 1, 10:00 AM 11:30 AM
PARENT
EDUCATION
For information, fees and registration, call Parent
THURSDAY, SEPTEMBER 24
7:00 PM
TOPIC: PATIENT ASSESSMENT REVIEW
Free; refreshments served. CEU credits.
Call 908-238-3254 to register.
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.
Infant Massage
SEPTEMBER 15, 6:00 PM 7:30 PM
Hearing Screening
SEPTEMBER 3, 2:00 PM 3:30 PM
SPECIAL EVENTS
(four-week sessions)
Registration required.
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
Vision Screening
SEPTEMBER 24, 9:00 AM 11:00 AM
Johnson & Johnson, New Brunswick
Employees only.
Breast Health
SEPTEMBER 2, 3:00 PM
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.
732-745-8600
800-269-7508
www.saintpetershcs.com
8/18/15 7:29 PM