PRINTER'S NO. 3676
THE GENERAL ASSEMBLY OF PENNSYLVANIA
HOUSE RESOLUTION
No.
954
Session of
2015
INTRODUCED BY TOOHIL, BAKER, COHEN, D. COSTA, DiGIROLAMO,
DONATUCCI, DUSH, GILLEN, GOODMAN, HENNESSEY, KINSEY,
KIRKLAND, LONGIETTI, MACKENZIE, MAJOR, MARSICO, McNEILL,
MILLARD, MILNE, MURT, NEILSON, OBERLANDER, READSHAW, ROSS,
ROZZI, SONNEY, WARD, WHEELAND AND YOUNGBLOOD, JUNE 29, 2016
INTRODUCED AS NONCONTROVERSIAL RESOLUTION UNDER RULE 35,
JUNE 29, 2016
A RESOLUTION
Designating the month of June 2016 as "Cockayne Syndrome
Awareness Month" in Pennsylvania and commending the work of
the Share and Care Cockayne Syndrome Network for raising
awareness of this disorder.
WHEREAS, Cockayne syndrome (CS) is a rare genetic disorder
that affects a small number of children worldwide, but its
impact on affected families is emotionally and economically
significant; and
WHEREAS, Edward Alfred Cockayne (1880-1956), after whom this
disease is named, was a London physician who concentrated
particularly on hereditary diseases of children; and
WHEREAS, CS is inherited in an autosomal recessive pattern:
in order for a child to be affected by CS, the child must
inherit a mutation in the same CS gene from both parents; and
WHEREAS, While parents who are carriers of a single CS gene
mutation remain healthy, after the birth of a child with CS they
have a 1 in 4, or 25%, chance of having a second or successive
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child with CS; and
WHEREAS, The symptoms of CS vary significantly, especially
with regard to the age of onset and rate of progression, and
include social and jovial personalities, sunburning easily,
progeria (premature aging), shortened lifespan and microcephaly;
and
WHEREAS, Neurodevelopment delay, short stature (height lower
than the 5th percentile for others in the age group),
contractures, unsteady gait, spasticity, rounded back, deep-set
eyes and a small, slender, straight nose are other symptoms and
features associated with CS; and
WHEREAS, Dental caries (cavities), retinopathy, cataracts,
hearing loss, poor circulation (cold hands and feet), low body
temperature, feeding problems, sleeping with eyes open, tremors,
white matter abnormalities, basal ganglia calcifications, liver
abnormalities, elevated liver enzymes, hypertension and severe
itchiness are other characteristics of CS; and
WHEREAS, The resulting spectrum of severity can be loosely
divided into three types of CS:
(1) CS Type I is characterized by normal prenatal growth
with the onset of growth and developmental abnormalities
around 1 year of age. The typical lifespan is 10 to 20 years
of age.
(2) CS Type II is characterized by growth failure and
other abnormalities at birth, with little or no postnatal
neurological development. The typical lifespan is up to 7
years of age.
(3) CS Type III is characterized by later onset, lesser
symptoms and a slower rate of progression. The expected
lifespan is unclear but can extend to 40 or 50 years of age;
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and
WHEREAS, Some individuals have combined features of CS and
xeroderma pigmentosum, which is characterized by a wide range of
skin changes from mild freckling to skin cancer on areas exposed
to sunlight; and
WHEREAS, No specific treatment currently exists for CS; and
WHEREAS, Patients are treated according to the symptoms they
have, with physical, occupational, speech, vision and hearing
therapies being beneficial; and
WHEREAS, It is important to persons with CS and their
families to raise awareness of this disorder so that they may
find social and medical support more easily; and
WHEREAS, The Share and Care Cockayne Syndrome Network
provides information and support for affected individuals and
their families; therefore be it
RESOLVED, That the House of Representatives designate the
month of June 2016 as "Cockayne Syndrome Awareness Month" in
Pennsylvania and commend the work of the Share and Care Cockayne
Syndrome Network for raising awareness of this disorder.
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