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Smith-Lemli-Opitz Syndrome and Social Security Disability

On average, applications for Social Security Disability (SSD) benefits take four or more months for the initial review to be completed, and for a variety of reasons, the Social Security Administration (SSA) denies the majority of applications (about 70%) following the initial review as well. When an initial application for disability benefits is denied, the applicant must go through a reconsideration review and will eventually need to file an appeal, if he or she is denied benefits a second time. Altogether, this entire process can take a year or more to complete.

As those individuals who suffer from very severe disabilities and terminal illnesses don’t have months or years to wait for a decision on their eligibility for benefits, the SSA has alternative review and approval processes in place for addressing claims filed with certain diagnoses. Under the SSA’s Compassionate Allowances (CAL) program, a list of clearly and inarguably disabling conditions exists. Claims which are filed for SSD with a diagnosis on the CAL list are expedited in order to provide benefits in a timelier manner to those who need them most.

At present, there are 113 disabling conditions which are among the SSA’s CAL list, though 52 additional conditions were recently approved for inclusion in the CAL program effective August 13, 2012, including Smit- Lemli-Opitz Syndrome.

If your child has been diagnosed with Smith-Lemli-Opitz Syndrome, the information that follows may help you understand how the SSA reviews disability claims for the specific condition. It will also provide you some guidelines for seeing a quick and smooth approval of disability benefits under the CAL guidelines of the SSA.

Smith-Lemli-Opitz Syndrome – Condition and Symptoms

Smith-Lemli-Opitz Syndrome (SLOS) is a genetic, metabolic and developmental disorder and relatively rare, affecting only about one in every 40,000 infants. It is caused by a deficiency in a specific enzyme (7-DHC reductase), which is responsible for the production of cholesterol.

Infants born with this disorder can present a wide variety of symptoms. Infants only mildly affected may have few and more minor physical abnormalities, and may have less pronounced learning disabilities and behavioral issues. More severely affected infants may have life-threatening physical deformities and much more severe intellectual disabilities as well.

Because cholesterol plays a central role in the development of embryonic cells, infants may have a number of physical deformities at birth, including malformed lungs, hearts, kidneys, stomachs, intestines and genitalia. Other common physical abnormalities at birth include fused toes and extra toes and fingers, small heads, and bone malformations.

Many other symptoms can be present in individuals affected by SLOS. Muscle and coordination problems are common, including low muscle tone and issues with motor control and development. Delayed speech, feeding difficulties, learning disabilities, behavioral problems, mental retardation and weak immune systems are often present as well. A high percentage of children with SLOS also have Autism, and many also develop hearing issues, vision problems, cataracts, scoliosis, osteoporosis, hypocholesterolemia, and Hirschsprung Disease.

SLOS can be diagnosed through the use of a specialized blood panel in which the lipids and 7-HDC in the blood stream is measured. Genetic testing can also confirm a diagnosis of SLOS. In a DNA test, mutations will be present in the DHCR7 gene.

In more mild cases of SLOS, dietary changes and supplemental therapies can be used to treat cholesterol deficiencies. Infusion therapy with synthetic cholesterol may also be necessary. Other treatments required depend on symptoms present and severity of symptoms.

In the most severe cases, where life-threatening organ malformations are present at birth, often very little can be done to treat the infant. In more mild cases however, treatments often focus on alleviating symptoms and assisting in development of motor and mental skills. Speech, physical, and behavioral therapies may be needed, and the level of daily supportive care necessary can vary widely from one case to the next.

Filing for Social Security Disability with Smith-Lemli-Opitz Syndrome

Although Smith-Lemli-Opitz Syndrome has been approved by the SSA for faster review and approval according to CAL guidelines, this does not mean your application will automatically be approved. You must still substantiate your claim by including expensive medical documentation in your application.

Your application should contain all medical records, including labs and other test results as well as statements from the different physicians who’ve treated the condition. The more detail you can place in your application for SSD, the less likely you are to see delays in the review and approval of disability benefits.

Your Smith-Lemli-Opitz Syndrome Social Security Disability Case

While Smith-Lemli-Opitz Syndrome is now considered among the conditions with expedited review procedures under the Compassionate Allowances program of the SSA, filing a claim with the diagnosis does not guarantee approval for disability benefits. You must still present a well documented case file and application. A Social Security Disability attorney can assist you in putting together your application and can help you get the appropriate documentation for satisfying the SSA’s requirements.