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Rhizomelic Chondrodysplasia Punctata and Social Security Disability

For anyone suffering from a disability, the process of applying for Social Security Disability (SSD) benefits can be frustrating, especially for those with very severe disabilities and terminal illnesses. The national average wait for the initial SSD application to be reviewed is between three and four months.

Additionally, the Social Security Administration (SSA) denies about 70 percent of applications during the first review. Anyone denied benefits may need to go through a second review and potentially an appeal hearing before receiving a final decision on their eligibility. In all, this process can take several months to more than two years to complete.

Because those who suffer from very severe or terminal disabilities can’t wait months or even years for a decision, the SSA began its Compassionate Allowances (CAL) program in 2008. CAL essentially allows DDS workers to expedite the review and approval of claims for conditions which are clearly severely disabling and meet the SSA’s guidelines.

At the present time, there are 113 CAL conditions on the SSA’s list. Fifty-two additional conditions where recently approved, including Rhizomelic Chondrodysplasia Punctata. The newly approved disabilities will become formally a part of the CAL program as of August 13, 2012.

If you’ve received a diagnosis of Rhizomelic Chondrodysplasia Punctata, the following information will help you understand the SSA’s disability claims review process for this specific condition. It will also give you some guidelines for increasing your chances of being quickly approved for disability benefits under the CAL guidelines of the SSA.

Rhizomelic Chondrodysplasia Punctata – Condition and Symptoms

Rhizomelic Chondrodysplasia Punctata (RCDP) is a severe and rare inherited condition that affects infants. RCDP infants account for only about one in every 100,000 births. The disease is often discovered prenatally and physical deformities are present at birth.

RCDP is caused by an abnormal protein in infant cells which prevents the growth of numerous body structures. Infants with this condition have short limbs, cartilage and bone issues, frozen joints, abnormal facial features, small heads, severe mental and psychomotor retardation, dry and red skin, sparse and coarse hair, hearing loss and cataracts.

RCDP varies in severity, with a small percentage of affected individuals having less severe and more manageable forms of the condition. The atypical cases where the condition is less severe have seen patients live as long as ten years, though the prognosis even for these children varies greatly. For the majority of infants affected by this genetic disorder, the condition is a terminal, with most surviving past infancy.

For those with less severe forms of the disorder, supportive therapies can treat symptoms, though the child will still live with pronounced physical and mental limitations. In the more severe cases, there are no available, effective treatments and therapy instead focuses on providing essential support and keeping the child as comfortable as possible. Round the clock, skilled medical care is usually necessary.

The presence of physical deformities at birth indicates RCDP, and x-rays and other imaging tests will show abnormalities in bones and cartilage development. While these symptoms further indicate RCDP, a definitive diagnosis is made through laboratory testing, specifically skin biopsies and blood tests which show biochemical imbalances due to abnormal proteins in the cells.

There are two other rare genetic disorders which have the same basic symptoms as RCDP, though they do not cause the same protein abnormalities as RCDP. While a diagnosis can be made without genetic testing, if all other signs, symptoms and test results point to RCDP, an absolute diagnosis can be confirmed with genetic testing. The genetic test will show abnormalities in the abnormal PEX7 gene, confirming beyond a doubt the diagnosis of Rhizomelic Chondrodysplasia Punctata, as no other disorder is known to be caused by that specific gene.

Filing for Social Security Disability with Rhizomelic Chondrodysplasia Punctata

You must have extensive medical records in any claim for SSD. This is true even when your disability falls under the CAL program. In other words, even a diagnosis of Rhizomelic Chondrodysplasia Punctata does not remove the need for a complete and thorough application which contains all available medical records.

To reduce the chance you’ll be denied during the first review, you must provide adequate documentation related to the diagnosis and treatment of the condition. This includes all your medical records, lab and other test results, and statements from treating physicians. The more detail you incorporate in your application, the less likely the SSA is to delay your approval or to request further information.

Your Rhizomelic Chondrodysplasia Punctata Social Security Disability Case

While Rhizomelic Chondrodysplasia Punctata is now considered a Compassionate Allowance by the SSA, the diagnosis alone is not enough to be found eligible for SSD. You will still need to include substantial medical documentation in your application in order to receive benefits. A Social Security Disability lawyer can help you through the application and review processes and may be able to shorten your wait for benefits as well.