Compassionate Allowance - De Sanctis Cacchione Syndrome

De Sanctis Cacchione Syndrome is a rare, genetic condition that is usually diagnosed in infancy. The prognosis for infants with this condition is generally poor and the disease typically progresses, resulting in complete physical and often mental disability.

As an aggressive and severely debilitating genetic condition, De Sanctis Cacchione Syndrome is among the conditions the Social Security Administration (SSA) includes in its Compassionate Allowances (CAL) program, for expedited review and approval for benefits.

CAL Designation and Medical Documentation

While the CAL designation of the condition qualifies it for expedited review, you must still complete the full application process and thoroughly document the effects of the disorder through significant medical records.

The SSA requires diagnostic testing results and physical findings are present in the medical documentation included with your application. Specifically, that documentation should include molecular testing showing the mutation of the ERCC6 gene which is responsible for the disorder.

The documentation of physical findings may include:

  • Pronounced sensitivity to and avoidance of light
  • Abnormalities in skin pigmentation
  • Ulcerations and scarring on the surface of the skin
  • Uncontrolled motor muscle movements
  • Progressive hearing loss
  • Intellectual decline
  • Physical body abnormalities, including a small cranium and short stature
  • Shortening of the tendons
  • Weakness in the limbs

Treatment protocols and their affects must also be documented in your medical records, and may include:

  • Consistent and total protection from the sun and other ultraviolet light
  • Dermatological evaluation and removal of skin growths, if necessary
  • Neurological evaluations and treatment of any central and peripheral nervous system symptoms
  • Eye exams and treatment of any vision impairment or visual complication symptoms

Once you meet the above requirements, you will also have to prove that your family qualifies for the Supplemental Security Income (SSI) program.

Applying for Benefits

Because De Sanctis Cacchione Syndrome is usually diagnosed in infancy, you will most likely be applying for benefits on behalf of a minor child. If so, you must complete an in-person interview at your local SSA office, during which an SSA representative will fill out the necessary forms for applying for SSD benefits.

You should schedule your appointment in advance and take as many of your child’s medical records with you as possible. You will also need all of your financial information, including documentation on income and assets, or other financial resources.

The review and eligibility determination process usually takes at least four months, but as a CAL condition, you should expect to receive a decision on your child’s eligibility in just a matter of weeks.

Though it is very unlikely your child’s application will be denied for medical reasons, if your child is found ineligible, you can file an appeal.