PRINTER'S NO. 1482
THE GENERAL ASSEMBLY OF PENNSYLVANIA
HOUSE RESOLUTION
No.
332
Session of
2015
INTRODUCED BY BAKER, GINGRICH, READSHAW, DiGIROLAMO,
SCHLOSSBERG, HENNESSEY, MILLARD, V. BROWN, COHEN, DUSH,
SONNEY, BROWNLEE, KINSEY, WHEELAND, MURT, LONGIETTI, THOMAS,
DONATUCCI, CAUSER, McNEILL, ROSS, MARSICO, WARD, WATSON,
PICKETT, PAYNE, MAHONEY, FARINA, VEREB, GOODMAN AND D. COSTA,
MAY 11, 2015
INTRODUCED AS NONCONTROVERSIAL RESOLUTION UNDER RULE 35,
MAY 11, 2015
A RESOLUTION
Designating the week of May 17 through 23, 2015, as "22q11.2
Deletion Syndrome Awareness Week" in Pennsylvania.
WHEREAS, 22q11.2 Deletion Syndrome, also known as DiGeorge
syndrome, Velo-cardio-facial syndrome and conotruncal anomaly
face syndrome, among others, is a congenital defect in which a
small part of chromosome 22 is missing from the time of
conception; and
WHEREAS, 22q11.2 Deletion Syndrome is the most commonly known
chromosomal microdeletion syndrome, affecting an estimated 1 in
2,000 to 4,000 live births, yet it is often undiagnosed,
especially in adults; and
WHEREAS, For a parent who has 22q11.2 Deletion Syndrome,
there is a 50% chance of passing a copy of chromosome 22 with
that deletion with each pregnancy; and
WHEREAS, 22q11.2 Deletion Syndrome can affect almost every
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system in the body and cause a wide range of health problems;
and
WHEREAS, Clinical variability, lack of knowledge and, most
importantly, the unfamiliarity of clinicians with this syndrome,
all contribute to delayed or missed detection, often resulting
in avoidable medical complications and inadequate early
interventions; and
WHEREAS, Though not all people with 22q11.2 Deletion Syndrome
are affected in the same way, key characteristics of the
syndrome include combinations and varying degrees of heart
defects, feeding and gastrointestinal difficulties, immune
system deficits, growth delay, palate differences, kidney
problems, hearing loss, low calcium and other endocrine issues,
cognitive and speech delay and behavioral, emotional and
psychiatric differences such as ADHD, autism and anxiety; and
WHEREAS, Most people with 22q11.2 Deletion Syndrome are
missing a sequence of about 1.5 to 3 million DNA building blocks
on one copy of chromosome 22 in each cell, which amounts to
about 40 to 50 genes, resulting in multisystem involvement, with
the cardiovascular system being the most notable system
affected; and
WHEREAS, Symptoms of the disorder do not consistently appear
to be related to the amount of genetic material lost in the
chromosomal deletion and therefore, there may be a great deal of
variation in symptoms among affected people; and
WHEREAS, The symptoms range from serious heart defects to
immune deficiency and developmental delays and while not all
issues are life-threatening, they all affect the quality of life
of the individual; and
WHEREAS, The 22q11.2 deletion is most often not inherited
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from either parent and does not usually run in families, and
only about 10% of children with the deletion have a parent who
is also affected; and
WHEREAS, If the condition is suspected, a blood test to
detect the deletion can be performed; and
WHEREAS, Clinic visits and hospital admissions present
opportunities to diagnose 22q11.2 Deletion Syndrome, but without
caregiver knowledge of this syndrome and its characteristics,
patients will not receive the correct diagnosis; and
WHEREAS, Although there is no cure for chromosome 22q11.2
deletion, there are many therapies and medical interventions
available to treat the symptoms and the earlier the symptoms are
detected, the more doctors can do to help; and
WHEREAS, The 22q and You Center at The Children's Hospital of
Philadelphia is an internationally recognized leader in the
diagnosis and treatment of children with chromosome 22q11.2
deletion; and
WHEREAS, The Children's Hospital of Philadelphia has
evaluated more than 1,200 patients with chromosome 22q11.2
deletion and is the largest program in the country specializing
in the condition; and
WHEREAS, With broader awareness of this complex syndrome, the
likelihood of a correct diagnosis can be substantially
increased; therefore be it
Resolved, That the House of Representatives designate the
week of May 17 through 23, 2015, as "22q11.2 Deletion Syndrome
Awareness Week" and urge its observance throughout this
Commonwealth for the benefit of all individuals living with
22q11.2 Deletion Syndrome and their families.
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