Adapted from the US National Institutes for Health and the Orphanet Journal of Rare Diseases 

A retrospective study of medical and insurance records indicates health care costs for people with a rare disease are three to five times greater than the costs for people without a rare disease. The study, led by the National Institutes of Health’s National Center for Advancing Translational Sciences (NCATS), provides new evidence of the potential impact of rare diseases, suggesting that nationwide medical costs for individuals with rare diseases are on par with those for cancer and heart failure. The study’s results were published in Orphanet.

“There needs to be greater public awareness of the large and growing medical footprint of rare diseases in society,” said senior author Anne Pariser, M.D., director of the NCATS Office of Rare Diseases Research. “Only about 10% of rare diseases have an FDA-approved therapy for their treatment. The findings underscore an urgent need for more research, and earlier and more accurate diagnoses of and interventions for these disorders.”

Most of the approximately 7,000 to 10,000 known rare diseases disproportionately affect children, adolescents and young adults. Individually, most rare diseases might affect only a few hundred to a few thousand people worldwide. However, rare diseases collectively affect an estimated 25 to 30 million people in the United States. Many of these diseases have a genetic cause, are serious or life-threatening and are hard to diagnose and treat.

The study determined approximate medical costs by examining healthcare system data from NCATS and Eversana. In every case, the cost per patient per year (PPPY) for those with a rare disease exceeded costs for non-rare diseases patients of the same age. According to the Eversana healthcare system database, which included estimates from commercial and insurance payors over nearly 15 years, PPPY costs ranged from $8,812 to $140,044 for rare diseases patients compared to $5,862 for those without a rare disease. 

The study also reported that extrapolating average cost estimates for the approximately 25 to 30 million individuals with rare diseases in the United States would result in total yearly direct medical costs of approximately $400 billion, which is similar to annual costs for cancer, heart failure and Alzheimer’s disease.

Because many of those diagnosed with a rare disease are young, and most rare diseases are serious conditions, rare disease patients are likely to require more time in the hospital and incur greater medical expenses over a lifetime than those without rare diseases.

Rare diseases impact mental health as well

Source: UK NHS National Genomics Program, edited for clarity

Rare genetic conditions are often chronic and medically complex, and can take years to diagnose. It has been well documented that living with a rare genetic condition can negatively impact mental health, and poor mental health has a detrimental effect on physical symptoms.

What is good mental health?

Good mental health is a state of wellbeing that enables patients and their families to cope with the stresses of life, learn and work well, and develop and maintain positive relationships. Good mental health helps people manage the uncertainties that come with living with a rare disease.

What contributes to poor mental health among rare disease patients?

Rare conditions can have a significant impact on mental health due to their effects on daily life. These include:

• chronic pain and fatigue;

• mobility issues;

• changes to physical appearance;

• unpleasant tests and treatments; and

• lack of information and disease awareness.

If symptoms are undiagnosed or misdiagnosed, feelings of frustration and distress are common. Unresolved physical  problems can contribute to depression and anxiety, especially when paired with doubts or dismissal from healthcare professionals. Some patients report being told things like, “It’s all in your head,” which can lead to reduced trust in the healthcare system. 

The impact of rare genetic conditions on family dynamics

Siblings of a child with a rare disease may feel neglected and their own needs overlooked. As more therapies for rare genetic conditions are becoming available, some younger family members may benefit from treatment that their older relatives did not have access to, leading to resentment. 

Guilt is common among families with rare conditions. Parents may blame themselves for passing on a condition while simultaneously grappling with the responsibility of caring for a child with complex medical needs. Likewise, a relative who was at risk of inheriting a condition may feel guilty for not having it when another family member does. Family members may also experience compassion fatigue when caring for their ill relative(s).

Receiving a diagnosis

The emotional impact of a diagnosis can depend on whether it was sought or is unexpected. The days after a diagnosis may involve many tests, which can be invasive, and possible involve family members if a condition is genetic. A lot may be happening, and people can easily feel overwhelmed. It's vital to have support, particularly in trying to comprehend communication with medical professionals. 

Integrating mental health into patient care

The mental health of people with rare disease requires regular assessment and care just as their physical health, and monitoring should be an integral part of their treatment plan. Three key things you can do to integrate mental health into rare disease patient care are: 

• Find a patient advocacy group. These groups may have access to resources and strategies to improve emotional wellbeing. Ask your doctors or search online for such groups. 

• Ask the patient directly: “How are you coping?” Asking someone what they find most difficult about their condition helps to promote patient-centered care, and can make all the difference when someone is on the brink of a possible mental health crisis.

• Address uncertainties. Manage the details of your care as best you can (appointments, etc.), take good notes, and write out questions for doctors ahead of time. Tackle bigger uncertainties too, esp. by asking your doctor questions until you get answers you understand. While it can take time to get answers through testing or exams, knowing what they do will help you understand your treatment and establish trust with the doctor. 

• Finally, reach out if you need help. It can be family, friends, or a professional - anyone you can talk to. Living with a rare disease isn't easy