Joubert Syndrome is a rare genetic condition that affects many parts of the body, but is largely characterized by underdevelopment of a part of the cerebellum called the cerebellar vermis, which controls coordination and balance. The condition is linked with about 10 different genes, usually related to the development of cell structures called cilia, and can range from mild to severely debilitating.
The condition is marked by a malformed brain stem, called the molar tooth sign, which is detected through MRI scanning. An infant born with Joubert Syndrome may demonstrate weak muscle tone and have bouts of fast or slow breathing. As the child grows, coordinating movements become difficult and he or she may show signs of intellectual disability. Other signs of Joubert syndrome include sleep apnea, eye abnormalities, and the presence of extra digits.
At this time, there is no direct treatment for Joubert Syndrome. Most treatment is in response to the symptoms. Physical and occupational therapies are among the more common options, as is infant stimulation. Sleep monitors and frequent doctor's visits can alleviate some of the breathing dysfunctions associated with Joubert Syndrome.
Social Security Disability Benefits
In general, anyone seeking disability benefits from the Social Security Administration (SSA) must be able to match the SSA's definition of disabled and their condition must meet a corresponding listing in the blue book. The blue book—which is divided into separate sections for adults and children—is the SSA's guidebook of technical criteria for all medical conditions it considers disabling. While Joubert Syndrome does not have it's own listing, it does qualify under two other listings: 111.06 Motor Dysfunction (due to any neurological disorder) or 111.07B Cerebral Palsy.
To meet 111.06 Motor Dysfunction, the child must demonstrate deficit of motor function involving two extremities, which interferes with age-appropriate daily activities and results in disruption of: fine and gross movements, or gait and station.
The Cerebral Palsy listing is met when there is demonstrated less severe motor dysfunction and one of the following:
- IQ of 70 or less;
- Seizure disorder, with at least one major motor seizure in the year prior to application;
- Significant interference with communication due to speech, hearing, or visual defect;
- Significant emotional disorder.
Because Joubert Syndrome is a very obvious condition and the symptoms can be very severe, applicants may be eligible to receive benefits through an expedited application process through a program called compassionate allowances. The SSA developed a list of certain health conditions that clearly meet the SSA's standards, allowing claims made with these conditions to be approved based on minimal medical evidence. Some cases require little more than a confirmation of diagnosis. Cases approved for a compassionate allowance can begin the process to receive benefits within a month of applying.
The Application Process
The application for Social Security Disability benefits can be quite complex. Before beginning the application, prepare the necessary documentation. This includes medical records and doctor's notes and likely some financial information. Applications for children must be processed in person. This means you will need to schedule an interview with a representative from the SSA.
Note that compassionate allowances are not a separate program from the benefits application, and you must complete the application fully and thoroughly—there is still a chance you may be denied. If this happens, you may appeal the decision, as long as you initiate the appeal within 60 days after notice of denial. The SSA acknowledges that raising a child with Joubert Syndrome can present many challenges, and has made it possible for you to begin receiving benefits on their behalf very quickly. In order to put yourself in the best position to do so, you will need to be highly organized and determined during the application process.