I cell disease is a lysosomal storage disease that affects fewer than 200,000 individuals in the United States. The disease only affects infants and so many people do not realize that the condition may qualify an individual for Social Security Disability benefits. While it is true that disability benefits are usually provided to adult workers who are disabled and no longer able to maintain full-time work activity, some disability benefits are provided to children who are born with severely debilitating conditions. A child with a disability can result in significant financial strain on a family and disability benefits may be able to help offset some of the resulting financial burden. If your child has been diagnosed with I cell disease and you are interested in how the disease may qualify your child for disability benefits under the SSA’s Compassionate Allowances guidelines, the following information will help.
I Cell Disease - Conditions and Symptoms
I cell disease, also known as inclusion-cell disease, mucolipidosis II and/or ML II is a lysosomal storage disease that is inherited in an autosomal recessive pattern. The disease is characterized by a defective phosphotransferase enzyme that transfers phosphate to mannose residues on different proteins in the body and notifies the body that these proteins need to be targeted to lysosomes within the cells of the body.
Because the enzyme that is associated with this task is defective in children who are born with I cell disease, the proteins that should be marked for lysosomes are excreted outside of the cell and the lysosomes cannot function without the use of said proteins. This results in the lysosomes not being able to break down certain substances within the body and the body begins to experience a buildup of the substances. This substance build-up then results in the formation of the I cells that are associated with the disease.
While the symptoms of I cell disease can vary from case to case, common symptoms include enlargement of certain organs in the body, stiff claw-shaped hands, impaired cognitive skills, clouding of the cornea of the eyes, dwarfism and chronic respiratory infections. In most cases symptoms will present themselves within the first six months of life and most children who are born with the condition will not survive beyond seven years of age.
I cell disease is a hereditary condition that is inherited in an autosomal recessive pattern. This means that a child who is born with the disease has inherited the disease from two parents who have a defective copy of the gene associated with the disorder. Each parent carries one recessive copy of the mutated gene. The child then inherits the mutated gene from each parent and ends up with two mutated copies of the gene, resulting in I cell disease. Even though the parents each carry a mutated copy of the gene, they will not show symptoms since the gene is recessive in nature.
Filing for Social Security Disability with I Cell Disease
Each year the Social Security Administration receives millions of claims from disability applicants. Unfortunately only about 30 percent of these initial claims are approved. The remaining 70 percent of applicants must file an appeal if they hope to receive benefits in the future. For most applicants, a disability appeal consists of a request for reconsideration and a hearing before an administrative law judge and can take more than two years to complete. Fortunately, applicants who are filing for disability benefits based on a case of I cell disease do not have to undergo the standard application process. The SSA implemented the Compassionate Allowances guidelines for severely debilitating diseases, allowing some applicants to be approved for disability benefits in a matter of weeks. I cell disease is one of the conditions that has been included in the SSA’s Compassionate Allowances listings.
Even though I cell disease has been included in the Compassionate Allowances listings, this does not mean that your child will automatically be approved for Social Security Disability benefits. You must still fill out the disability claim forms properly and submit sufficient medical evidence to the SSA in order to support your claim. Improperly completed claim forms or a lack of medical evidence may result in a denial of your child’s benefits and the need for a disability appeal.
I Cell Disease and Your Social Security Disability Case
If you are applying for Social Security Disability benefits for a child who has been diagnosed with I cell disease, you may want to consider retaining the services of a disability attorney. By working with an attorney you can ensure that your claim paperwork is properly filled out and filed with the SSA and that you have supplied sufficient medical evidence to support your case.
A disability lawyer can also ensure that your disability claim forms are submitted in such a way that the SSA understands the nature of the claim and how you or your child may qualify for benefits under the Compassionate Allowances guidelines. This will help you receive your benefits in a matter of weeks rather than having to wait months or years before benefits can begin.
