Doctors with screensImproving treatment of uncommon diseases

Diseases that affect fewer than 200,000 people are classified as rare diseases. According to US News, nearly one in ten Americans, including many here in Illinois, suffers from a rare disease. Unfortunately, as any attorney Social Security knows, many of these diseases are highly debilitating, and securing treatment is frequently challenging.

Many rare diseases are poorly understood, and victims often lack access to qualified specialists. Furthermore, just 5 percent of rare diseases currently have FDA-approved treatment protocols. However, a growing focus on these diseases may result in improved understanding and more effective treatments.

Ongoing advances

The National Institutes of Health is currently funding a research consortium that investigates rare diseases. Since its foundation in 2003, the consortium has conducted studies involving over 29,000 patients. As of late 2014, about 2,600 medical researchers were performing 91 ongoing studies. The consortium supports advances in rare disease research by facilitating the following things:

  • Collaboration between specialists
  • Better patient recruitment and study enrollment
  • Sharing of data and results

Private companies are also dedicating increasing attention to rare diseases. For example, True North Therapeutics is developing a new treatment for autoimmune-related rare diseases. This drug will address diseases that arise when the complement system, which is part of the immune system, wrongly attacks bodily cells. This approach, if successful, could treat multiple rare diseases.

Unfortunately, effective understanding and treatment of many rare diseases may take years. In the interim, victims may face significant medical expenses and numerous debilitating symptoms. For individuals who can no longer work, Social Security Disability benefits may provide assistance.

Qualifying diseases

The Social Security Administration recognizes select rare diseases as disabling if they meet prescribed criteria. As any attorney Social Security could verify, these diseases and requirements are listed in the “Blue Book.” People who fulfill Blue Book requirements qualify medically for benefits.

Some rare diseases, such as Creutzfeldt-Jakob disease and Pick’s disease, even trigger expedited claim processing through the Compassionate Allowances program. More often, though, people with rare diseases receive SSD benefits based on their functional limitations.

The SSA may award benefits if a rare disease essentially prevents a person from working. An SSA claims examiner may determine a person would need such significant accommodations that employment isn’t feasible. The SSA may also decide a person’s condition only permits work the person isn’t qualified to perform.

Documenting disablement

People applying for SSD benefits must provide supporting evidence. As an attorney Social Security might note, medical evidence includes treatment history, clinical findings and assessments from qualified professionals. People whose rare diseases aren’t automatically considered disabling must also submit information about their vocational backgrounds. This helps the SSA accurately evaluate a person’s present ability to work.