Rhizomelic Chondrodysplasia Punctata and SSA Disability

Rhizomelic chondrodysplasia punctata is a rare condition that affects less than 1 in every 100,000 people worldwide. When a child is diagnosed with rhizomelic chondrodysplasia punctata, it isn’t unusual for one of the parents to stop working or for the family to hire outside help to assist in attending to the needs of the child. In either case, the family with the afflicted child can face significant financial stress. Fortunately, Social Security Disability benefits may be able to help. While most disability applicants must wait months or years for their disability benefits to begin, those who have been diagnosed with certain conditions can qualify for benefits more quickly under the SSA’s Compassionate Allowances guidelines. This year the SSA has added rhizomelic chondrodysplasia punctata to the listing of conditions that qualify an applicant for Compassionate Allowances processing. If your child has been diagnosed with rhizomelic chondrodysplasia punctata and you are interested in obtaining disability benefits for your child, the following information will help you understand how you can ensure that your child’s claim is processed quickly and according to Compassionate Allowances guidelines.

Rhizomelic Chondrodysplasia Punctata - Condition and Symptoms

Rhizomelic chondrodysplasia punctata is a rare condition that affects the development of various parts of the body – primarily the skeletal features, face, cognitive abilities and respiratory system.

The symptoms of the condition can vary on a case-by-case basis. Common symptoms include shortening of the bones in the upper arms and the thighs, joint deformities leading to joints that are stiff and painful, a prominent forehead, wide-set eyes, a sunken look in the middle of the face, cataracts and significant delays in development and serious deficits in intellectual ability. It is common for children who are born with this condition to suffer from chronic respiratory infections.

Due to the severe health problems these patients are faced with, most individuals only survive into childhood and do not live past age 10. There are, however, cases in which people who have only suffered from mild symptoms have lived into early adulthood.
Rhizomelic chondrodysplasia punctata is a genetic condition that is inherited in an autosomal recessive pattern. This means that the people who inherit the disorder inherit one gene from each parent. Typically the parents only carry one copy of the mutated gene and, therefore, do not show any signs of the condition. However, when each parent gives their copy of the mutated gene down to their child then the child has two copies of the mutated gene. This is when the symptoms of the condition present themselves and rhizomelic chondrodysplasia punctata develops.

Filing for Social Security Disability with Rhizomelic Chondrodysplasia Punctata

When a child is diagnosed with rhizomelic chondrodysplasia punctata, it is not uncommon for one of the parents to have to stop working in order to attend to the needs of the child or for the family to incur added expense in order to care for the child’s needs. The SSA has recognized the severity of the condition and, as such, the condition is now one of those listed in the SSA’s Compassionate Allowances listings. This means that children who are diagnosed with rhizomelic chondrodysplasia punctata may qualify for disability benefits from the SSA in as little as a few weeks.

In order to increase your child’s chances of receiving an approval of his or her disability claim, you need to ensure that you fill out the disability application forms properly. Any answers that are vague or incomplete can result in delayed approvals or an actual denial of your child’s disability application. Because of this, you must be sure to answer all questions in detail and be as specific as possible.

In addition to properly filling out the disability claim paperwork, you must provide the SSA with enough medical evidence to support your case. This may include lab results, copies of genetic tests, medical records and written statements from your child’s treating physicians.

Rhizomelic Chondrodysplasia Punctata and Your Social Security Disability Case

If you have a child who has been diagnosed with rhizomelic chondrodysplasia punctata and you wish to obtain disability benefits from the SSA, you may want to consider retaining the services of a disability attorney. By working with a disability attorney you can ensure that your disability application paperwork is properly filled out and that you have enough objective medical evidence to support your claim for disability benefits. Working with a disability lawyer can also ensure that your claim is filed properly so that the adjudicator who reviews the file will understand how your child’s claim qualifies for processing under the Compassionate Allowances guidelines.