Applying for Social Security with Phenylketonuria

By John Dowling

John Dowling is the Senior Editor of Social Security Disability Help, the web’s ultimate resource for guiding people with disabilities to the benefits they deserve. For more information, feel free to visit Social Security Disability Help.

Phenylketonuria, commonly referred to as PKU, is a very rare metabolic condition that, if not caught early in infancy, can result in severely debilitating symptoms. While many cases of PKU are caught early and are treated properly to minimize symptoms, some cases are not caught in time and symptoms develop that result in an individual's inability to care for themselves or maintain full-time employment. Disabilities can also occur as a result of going off the diet, as high phenylalanine blood levels over a long period of time can cause a variety of problems. Individuals who have late-treated PKU or have been off treatment for years are often faced with severe financial struggles and the disease can wreak financial devastation on the affected person's family.

Fortunately, Social Security Disability benefits can help offset some of the financial burden associated with PKU-related disabilities. If you are wondering how disability claims that are based on a diagnosis of phenylketonuria are reviewed by the Social Security Administration, the following information will shed light on the disability claim process and will provide information on how one can increase their chances of being approved for the Social Security Disability benefits they need.

Phenylketonuria: Condition and Symptoms

Phenylketonuria is a rare genetic condition that results in a deficiency of the phenylalanine hydroxylase enzyme. This enzyme is responsible for breaking down phenylalanine in the body. Phenylalanine is introduced to the body through a person's diet. When there is not enough of the phenylalanine hydroxylase enzyme present to break down the phenylalanine properly, the build-up of this amino acid becomes toxic to the body's central nervous system and, if left untreated, can result in severe brain damage.

Not all cases of PKU are the same and the severity of symptoms will vary depending on how long the condition has gone untreated. Common symptoms of untreated PKU include mental retardation, behavioral and social problems, seizures, jerking movements in the limbs, hyperactivity, stunted growth, skin rashes, a musty odor to the breath, skin and urine, fair skin and blue eyes.

It is very important that phenylketonuria is diagnosed at birth. If left undiagnosed and untreated, brain damage and mental retardation can occur within one year of birth. Children who are born with this condition must maintain a low-phenylalanine diet in order to avoid the most serious side effects of the condition. If too much phenylalanine is introduced to the body, the symptoms will progress.

Filing for Social Security Disability with Phenylketonuria

The Social Security Administration does recognize phenylketonuria in its Blue Book of Medical Listings under Section 10.00 in paragraph C.2. However, a diagnosis of the condition itself is not enough to qualify an individual for Social Security Disability benefits, regardless of the SSA's listing inclusion. Because cases of PKU vary significantly depending on the severity of the affects, the SSA reviews these disability claims on a case-by-case basis and will need to see evidence of the severity of the PKU itself. PKU can affect people differently, and therefore can cause different types of affects. So it is important to establish the severity of your PKU and its related symptoms so that the SSA has a full understanding of your condition.

In order to qualify for Social Security Disability benefits due to a diagnosis of phenylketonuria, you must be able to prove that your condition prevents you from performing any type of substantial gainful work activity. Lab results, complete medical records, treatment histories, and written statements from treating physicians will go a long way in proving your case to the Social Security Administration.

When filing for Social Security Disability benefits based on phenylketonuria, make sure you fill out the disability claim forms in their entirety, paying close attention to the questions asked on the "residual capacity" forms. The questions on these forms need to be answered in detail so that the adjudicator reviewing your file fully understands how the condition impacts your ability to perform day-to-day activities and maintain full-time employment.

Phenylketonuria and Your Social Security Disability Case

It is important to understand that even though you may suffer from phenylketonuria and that the symptoms may prevent you from performing any substantial gainful work activity, your initial claim for disability benefits may be denied by the Social Security Administration. Nearly 70% of initial disability claims are denied by the SSA each year. If your claim for benefits is denied, you will want to retain the services of a qualified Social Security Disability attorney or advocate to represent you in a disability appeal.

A disability advocate or attorney will represent you in your Social Security Disability appeal, working to ensure that all medical evidence is gathered to support your disability claim. These professionals will understand exactly what evidence will be needed to prove your case to the Social Security Administration and will be able to properly represent you at your disability hearing. The good news is that nearly two-thirds of disability appeals are won at the hearing stage of the appeal process, but it is crucial that you have proper representation to ensure the best chance of a favorable outcome.




Last update: July 2013
National PKU News: www.pkunews.org
E-mail: schuett@pkunews.org