I'm willing to bet that unless you already know someone with SLOS that you've never heard of it. A HUGE reason for sharing this with you—to simply create awareness. If you cannot contribute monetarily, you CAN contribute by gaining more knowledge and passing it on.
Smith-Lemli-Opitz Syndrome (SLOS) is a genetic disorder where the body does not produce adequate amounts of cholesterol. SLOS/RSH Syndrome is inherited as an autosomal recessive Mendelian disorder, like cystic fibrosis and sickle cell disease meaning both parents are carriers of the gene. The disorder occurs in approximately 1 in 20,000 births. Children with SLOS are affected by growth retardation, developmental delays and many different malformations. However, given the advances of medical treatment, often the children can now live to adulthood.
The SLOS/RSH Foundation is a 501 (c) (3) charitable organization (so your donation is tax deductible) designed not only to provide a support network for families dealing with SLOS, but also to aid in finding better treatments, or even a cure for SLOS. The money raised from this outing will go towards funding research studies for SLOS. A couple years ago, much of their funding was cut, so your donation is needed now more than ever to continue the progress of their research efforts.
Please learn more about SLOS at www.smithlemliopitz.org.
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ReplyDeleteHere is a link to more information about the genetics of Smith Lemli Opitz Syndrome that was prepared by our genetic counselor and which has links to some useful resources for those dealing with this condition: http://www.accessdna.com/condition/Smith_Lemli_Opitz_Syndrome/343. There is also a phone number listed if you need to speak to a genetic counselor by phone. I hope it helps. Thanks, AccessDNA
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