Snapshot 5 Things to Know About Rare Diseases

Rare diseases affect an estimated 25 million to 30 million people in the United States. Some diseases are serious or life-threatening, and often have a genetic cause making them hard to diagnose and treat.  

Newborn screenings help identify health concerns including rare diseases, development delays and abnormalities that may need medical intervention. Each state varies on the number of conditions screened at time of birth. 

The average annual cost of a prescription drug used in the treatment of rare disease is $32,000. Patients may go through several medications before finding one that best addresses their individual health concerns. Medication adherence and health outcomes may improve when patients can afford their medications.  

Patients experience an average of 6.3 years of diagnostic testing, hospitalizations, emergency room visits, and specialist referrals before receiving a confirmed diagnosis of a rare disease, sometimes receiving several incorrect diagnoses during that time. 

Accessing doctors and treatment specialized for rare disease can be a challenge for patients. Patients sometimes choose between paying out of pocket fees for care not within their health care network or traveling to another state where specialized care is available.

Raising awareness can help medical professionals identify patients who may have a rare disease but can also help people living with rare disease find support from their communities. Several states, including Colorado and Florida, have designated days as rare disease awareness days to generate discourse and provide support to residents of the state living with rare conditions.  

All 50 states participate in newborn screening including 32 states that screen for over 50 different rare conditions. North Carolina recently expanded its newborn screening to include two Lysosomal Storage Disorders: Mucopolysaccharidosis Type I (MPS I) and Pompe Disease. 

When patients switch insurers or coverage plans, step therapy may be required before they are approved for more costly treatments. Patients in Oregon and Texas who are already stable on a particular treatment can now override the step therapy protocol in certain circumstances.  

Within the last decade, over 20 states have created special taskforce committees known as a rare disease advisory council. Minnesota and Georgia formed a rare disease advisory council within the last five years. By including individuals with rare disease, state officials are looking to make informed decisions that could improve quality of treatments, reduce misdiagnoses and lower health care costs.  

Interstate licensure compacts give patients the opportunity to been seen by medical specialists residing in another state which allows patients access to different treatments and care. Indiana recently joined the Interstate Medical Licensure Compact (IMLC) allowing providers licensed in Indiana to care for patients living in the 40 other states, as well as one territory, across the country participating in the IMLC.