1Recognizing June 24, 2013, as "Smith-Lemli-Opitz Syndrome
2Awareness Day" in Pennsylvania.

3WHEREAS, The Smith-Lemli-Opitz/RSH Syndrome (SLO/RSH) is a
4recessive genetic metabolic disorder that affects the
5development of children before and after birth; and

6WHEREAS, Geneticists have determined that a recessive gene
7blocks cholesterol metabolism in fetuses and children, causing
8SLO/RSH manifestations and certain supplementary cholesterol
9treatments are still in early research stages, but appear
10encouraging; and

11WHEREAS, Almost all SLO/RSH children are born with small
12brains and have varying degrees of slow development and
13intellectual disability; and

14WHEREAS, Children with SLO/RSH have trouble making and using
15cholesterol, which affects their growth, weight and cognitive
16development; and

17WHEREAS, Children's lifespan can be limited by serious

1internal malformations, but with proper nutrition and
2consultation with medical professionals, children with SLO/RSH
3can often have a normal lifespan, and may learn to walk and
4talk; and

5WHEREAS, According to the Smith-Lemli-Opitz/RSH Foundation,
6the syndrome affects one in every 20,000 to 40,000 births,
7including at least 40 families in Pennsylvania; and

8WHEREAS, Carrier testing is now possible by measurement of 7-
9dehycholesterol or enzyme levels in cultured cells, and a more
10accurate DNA test is anticipated; therefore be it

11RESOLVED, That the Senate recognize June 24, 2013, as "Smith-
12Lemli-Opitz Syndrome Awareness Day" in Pennsylvania.