1Designating the month of June 2013 as "Cockayne Syndrome
2Awareness Month" in Pennsylvania and commending the work of
3the Share and Care Cockayne Syndrome Network for raising
4awareness of this disease.

5WHEREAS, Cockayne Syndrome, or CS, is a rare genetic disorder
6affecting a small number of children worldwide, but its impact
7on involved families is significant emotionally and
8economically; and

9WHEREAS, Edward Alfred Cockayne (1880-1956), after whom this
10disease is named, was a London physician who concentrated
11particularly on hereditary diseases of children; and

12WHEREAS, CS is inherited in an autosomal recessive pattern;
13therefore, in order for a child to be affected by CS, he or she
14must inherit a mutation in the same CS gene from both parents;
15and

16WHEREAS, While parents, who are carriers of a single CS gene
17mutation, remain healthy after the birth of a child with CS,

1they have a one in four, or 25%, chance of having a second or
2successive child with CS; and

3WHEREAS, The symptoms of CS vary significantly, especially
4with regard to the age of onset and rate of progression, and
5include social, jovial personalities; sunburning easily;
6progeria (premature aging); shortened life span; microcephaly;
7neurodevelopment delay; short stature (height lower than the 5th
8percentile for others in the age group); contractures; unsteady
9gait; spasticity; rounded back; deep-set eyes and a small,
10slender, straight nose; dental caries (cavities); retinopathy
11and cataracts; hearing loss; poor circulation (cold hands and
12feet); low body temperature; feeding problems; sleeping with
13eyes open; tremors; white matter abnormalities; basal ganglia
14calcifications; liver abnormalities; elevated liver enzymes;
15hypertension; and severe itchiness; and

16WHEREAS, The resulting spectrum of severity can be loosely
17divided into three "types" of CS:

18(1) CS Type I is characterized by normal prenatal growth
19with the onset of growth and developmental abnormalities
20around one year of age. The typical lifespan is 10 to 20
21years of age.

22(2) CS Type II is characterized by growth failure and
23other abnormalities at birth, with little or no postnatal
24neurological development. The typical lifespan is up to seven
25years of age.

26(3) CS Type III is characterized by a later onset,
27lesser symptoms and a slower rate of progression. The
28expected lifespan is unclear, but can extend to 40 or 50
29years of age;

30and

1WHEREAS, Some individuals have combined features of CS and
2Xeroderma Pigmentosum, which is characterized by a wide range of
3skin changes from mild freckling to skin cancer on areas exposed
4to sunlight; and

5WHEREAS, No specific treatment currently exists for CS, and
6patients are treated according to the symptoms they have, with
7physical, occupational, speech, vision and hearing therapies
8being beneficial; and

9WHEREAS, It is important to those affected by CS to raise
10awareness of this disease so that they find social and medical
11support easily, and the Share and Care Cockayne Syndrome Network
12provides information and support for those afflicted; therefore
13be it

14RESOLVED, That the House of Representatives designate the
15month of June 2013 as "Cockayne Syndrome Awareness Month" in
16Pennsylvania and commend the work of the Share and Care Cockayne
17Syndrome Network for raising awareness of this disease.