Sialic acid storage disease is a disorder that affects the nervous system of the body. There are three main types of sialic acid storage disease including infantile free, Salla disease and intermediate severe Salla disease. The infantile free form of the disorder is the most severe and this is the form that has been included in the SSA’s Compassionate Allowances listings. When parents have a child who has been born with infantile free sialic acid storage disease it can take a significant financial toll on the family. Thankfully Social Security Disability benefits may be able to help. If your child has been diagnosed with infantile free sialic acid storage disease and you are wondering how it may qualify your child for disability benefits from the Social Security Administration, the following information will help.
Infantile Free Sialic Acid Storage Disease - Condition and Symptoms
Sialic acid storage disease is a very rare condition. It has been diagnosed in fewer than a few dozen infants across the world. The infantile free form of the disease is the most severe. Symptoms of the condition can vary from case to case but the most common symptoms include severe delays in development, decreased muscle tone, failure to gain weight, failure to thrive, unusual facial features, seizures, malformed bones, enlarged liver, enlarged spleen, enlarged heart, swollen abdomen and fluid buildup in the abdominal cavity. In the most severe cases, children who are born with the disorder will only live into the early years of childhood.
Mutations in the SLC17A5 cause the development of infantile free sialic acid storage disease. The SLC17A5 gene is the gene that is responsible for instructing the body to create a protein called sialin. Sialin is a protein that is located on the membranes of the body’s lysosomes. The lysosomes are responsible for breaking down substances in the body. The mutated genes result in a build-up of these substances which result in the symptoms of the condition.
Infantile free sialic acid storage disease is inherited in an autosomal recessive pattern. This means that both of the child’s parents carry one mutated copy of the gene. Because each parent only carries one mutated copy, they do not exhibit symptoms of the disorder. However, when each parent passes down their copy of the mutated gene to their child the child ends up with two mutated copies of the gene, resulting in infantile free sialic acid storage disease and its associated symptoms.
Filing for Social Security Disability with Infantile Free Sialic Acid Storage Disease
When a child is diagnosed with infantile free sialic acid storage disease, it is not uncommon for one of the parents to have to stop working in order to attend to the needs of the child. This can put significant financial strain on the child’s family. Fortunately, in many cases, disability benefits from the Social Security Administration can help offset some of the financial stress caused by the child’s condition.
While many disability applicants must wait months or even years to be approved for Social Security Disability benefits, children who are diagnosed with I cell disease may receive benefits in a matter of weeks thanks to the guidelines of the SSA’s Compassionate Allowances program. However, in order to qualify for benefits under the Compassionate Allowances guidelines you must properly fill out the claim paperwork and provide the SSA with sufficient medical evidence in order to support your case. If your paperwork is not filled out properly or you do not provide sufficient evidence, your child’s disability claim may be delayed or denied and you may need to pursue a disability appeal.
Infantile Free Sialic Acid Storage Disease and Your Social Security Disability Case
If you have a child who has been diagnosed with infantile free sialic acid storage disease and you wish to obtain disability benefits from the Social Security Administration, then you may want to consider retaining the services of a disability attorney to help you in your endeavor. By working with a disability attorney you can ensure that your disability claim forms are properly filled out and that you have enough objective medical evidence to support your claim. Furthermore, a disability lawyer can ensure that your claim is filed in such a way that the adjudicator reviewing the file will understand how your child’s claim qualifies for processing under the Compassionate Allowances guidelines.
If, for some reason, your initial claim is denied by the Social Security Administration, you will need to file an appeal if you wish to obtain benefits in the future. If this happens, you will want the help of an attorney to guide you through the appeal process. Compassionate Allowances appeals are given priority over standard appeals and, therefore, are processed more quickly. An attorney can ensure that your appeal is handled according to the SSA’s Compassionate Allowances guidelines.
