5 State Strategies to Improve Outcomes  

• Raising awareness can help medical professionals identify patients who may have a rare disease and helps people living with rare disease find support in their communities. States, including Colorado and Florida, have designated rare disease awareness days to generate discourse and support residents 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

• Rare diseases affect approx. 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 testing, hospitalizations, ER visits, and specialist referrals before receiving a rare disease diagnosis, sometimes receiving several incorrect diagnoses in that time. 
• Accessing specialists & treatment can be a challenge. Patients choose between paying out of pocket fees for care not in their network or traveling to another state where specialized care is available.

Starting the care journey isn't always simple 

Source: United Kingdom National Health Service National Genomics Education Program

Rare disease patients will often be seen by numerous healthcare professionals across several different specialties, all of whom may offer diverging opinions or diagnoses. This usually involves multiple appointments that are geographically dispersed, often with little communication between services – which can lead to an incorrect diagnosis or even delivery of the wrong treatment. This experience is so common within the rare disease community that it has its own name: the diagnostic odyssey

A person living with an undiagnosed condition will often have no relief from symptoms during their journey to diagnosis. They may also face doubts and dismissal from healthcare professionals. Emotions and challenges experienced can include:

• feelings of isolation, fear and stress;

• deterioration of physical and mental health;

• financial difficulties;

• impacted career and education opportunities; and

• breakdown of personal and/or familial relationships.

In working out how best to support someone with a rare condition, there is often a process of trial and error. As rare diseases present with so many unknowns, it is important that healthcare professionals  work together to deliver the best possible outcome for the patient.

It's important to remember that, from the patient’s perspective, receiving a diagnosis is not the only thing that matters: the way the diagnosis is obtained and delivered, and the ways which the patient is supported through the process, are both crucial to improving the rare disease patient experience and health outcomes.