PRINTER'S NO. 1970
THE GENERAL ASSEMBLY OF PENNSYLVANIA
HOUSE RESOLUTION
No.
415
Session of
2015
INTRODUCED BY TOOHIL, BAKER, BISHOP, COHEN, D. COSTA,
DiGIROLAMO, DONATUCCI, FARINA, GOODMAN, HENNESSEY, JOZWIAK,
KAVULICH, KINSEY, KIRKLAND, LONGIETTI, MAHONEY, MAJOR,
MARSICO, MILLARD, MULLERY, MURT, D. PARKER, PICKETT,
READSHAW, ROSS, THOMAS, VEREB AND WHEELAND, JUNE 28, 2015
INTRODUCED AS NONCONTROVERSIAL RESOLUTION UNDER RULE 35,
JUNE 28, 2015
A RESOLUTION
Designating the month of June 2015 as "Cockayne Syndrome
Awareness Month" in Pennsylvania and commending the work of
the Share and Care Cockayne Syndrome Network for raising
awareness of this disease.
WHEREAS, Cockayne Syndrome (CS) is a rare genetic disorder
affecting a small number of children worldwide, but its impact
on involved families is significant emotionally and
economically; 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;
therefore, in order for a child to be affected by CS, he or she
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,
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they have a one in four, or 25%, chance of having a second or
successive 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, jovial personalities; sunburning easily;
progeria (premature aging); shortened life span; microcephaly;
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; dental caries (cavities); retinopathy
and 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; 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 one 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 seven
years of age.
(3) CS Type III is characterized by a 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;
and
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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
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 those affected by CS to raise
awareness of this disease so that they find social and medical
support easily, and the Share and Care Cockayne Syndrome Network
provides information and support for those afflicted; therefore
be it
RESOLVED, That the House of Representatives designate the
month of June 2015 as "Cockayne Syndrome Awareness Month" in
Pennsylvania and commend the work of the Share and Care Cockayne
Syndrome Network for raising awareness of this disease.
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