Rare diseases, also known as orphan diseases, may affect only a small percentage of the population, but collectively they affect a substantial number of people worldwide. In the United States, a rare disease is defined as a condition that occurs in less than 200,000 people, while in the European Union, a disease is defined as rare when it affects fewer than 1 in 2000 people.1 With close to 7000 diseases being classified as rare by the National Institutes of Health (NIH), what do psychiatrists and mental health workers need to know about them?
Rare Diseases and Mental Health
Although a significant number of rare diseases are genetic, they have a varied etiology: infectious, autoimmune, nutritional, and environmental diseases and cancers.2 Regardless of etiology, living with a rare disease can have a detrimental effect on mental well-being. While this could be said of any disease or chronic condition, the mental impact can be amplified in the case of rare diseases. Anxiety, stress, low mood, emotional exhaustion, and suicidal thoughts, have all been identified in the rare disease population.3
There are several factors that lead to increased stress in patients with rare diseases, one of the most significant being delays in receiving a correct diagnosis. According to Barbara Schildkrout, MD, assistant professor of psychiatry, at Harvard Medical School in Boston, Massachusetts, “A diagnosis is very powerful because it essentially sums up a huge amount of information. A diagnosis conveys an etiology, clinical course, and treatment. Often, it can predict that you will get better, and it provides information on how long it will take to get better. This cannot necessarily be said about a rare disease diagnosis because very little might be known about a particular disease.” 4
A search for answers regarding unexplained symptoms that even physicians cannot attribute due to their rarity can drive patients to consult one physician after another before a correct diagnosis is made. Sometimes, the disease remains undiagnosed; the patient may even be misdiagnosed as having a psychosomatic disorder.5
The Mental Impact of the Unknown
Even once a diagnosis is made, patients are rarely left with the answers they are seeking. “Often, there is great uncertainty about the future for patients with rare diseases because so little is known about the natural course of their disease or, if it is a genetic disorder, how it will affect the patient’s children,” says Dr. Schildkrout.
A large-scale 2013 survey, which remains relevant today, reported that 90% of US participants and 91% of UK participants were anxious about the prognosis for their disease, which was exacerbated by the dearth of information available on their condition (83% in the US, 81% in the UK).6 This had a domino effect on other areas of their lives, resulting in social isolation and further deterioration in mental well-being.
Psychiatric Help for Rare Diseases
There is little advice available for psychiatrists in terms of how to work with patients with rare disease, and yet these are patients are in significant need of psychological support. Fortunately, there are multiple ways in which psychiatrists can adapt their practice to work effectively with this population throughout the disease trajectory.
According to Dr. Schildkrout, a patient in the “pre-diagnosis” phase may be referred to a psychiatrist for several reasons:
- they are experiencing the stress of living with unexplained symptoms
- symptoms of their underlying disease might include mood, behavior, and/or cognition
- another clinician believes the patient’s symptoms are “hysterical,” a “conversion reaction,” or “psychosomatic.”
Dr Schildkrout opines that, “It would be helpful for a psychiatrist to have the possibility of rare diseases in mind when they see patients, and especially when they see patients who present with:
- an atypical presentation, including atypical age of onset for a psychiatric condition
- dysmorphic features
- unusual symptoms or a change in personality
- sudden onset without a prior psychiatric history
- not responding as expected to treatment\
- getting worse with treatment
- having a family history of a rare condition or unexplained deaths.”
“The use of online databases such as Orphanet or Online Mendelian Inheritance in Man (OMIM) and mobile apps such as Face2Gene (a facial recognition software app), can help psychiatrists in arriving at the correct diagnosis for rare diseases,” Dr. Schildkrout adds.
Psychological and logistical support post-diagnosis
Patients with rare diseases can require extensive psychological and logistical support in order to cope with the huge emotional stress of living with their disease. “These patients and their families often feel isolated and misunderstood,” explains Dr. Schildkrout. “They may also feel a sense of injustice, hopelessness or even despair. Psychiatrists have a crucial role to play in emotionally supporting patients and their families as they navigate the healthcare system and face the numerous challenges of having a rare disease.”
Patients with rare diseases often feel alienated from healthcare systems and, according to Dr. Schildkrout, “Psychiatrists may be in a position to provide a positive and reliable link to medical resources, helping to connect patients and families with other appropriate clinical and social service resources, including genetic counselors, social service agencies, and support groups.”
Treating rare diseases characterized by psychiatric symptoms
In addition to the psychological effects seen in patients with rare diseases, there are also some rare diseases that are characterized by neuropsychiatric symptoms. For example, frontotemporal dementia (FTD), an uncommon form of dementia, can manifest via delusions or hallucinations, apathy, social withdrawal, psychosis, and anxiety. Often, these patients are misdiagnosed as having bipolar disorder, schizophrenia, or other neurodegenerative diseases such as Alzheimer disease or idiopathic Parkinson disease.
A timely and correct diagnosis is critical for the effective clinical management of rare diseases characterized by psychiatric symptoms and, often, the psychiatrist is the best place to offer this. Thereafter, treatment will require an integrated and collaborative approach between multiple specialists.
Psychiatry – A Vital Component of Rare Disease Treatment
Rare diseases do present a challenge for psychiatrists, but not one that is insurmountable with an open mind and a proactive approach to educating oneself on rare diseases and their impact on mental well-being. Indeed, it could be argued that psychiatrists are a core part of the treatment team for a patient with a rare disease, necessitating greater awareness of this patient population in psychiatry.
- National Center for Advancing Translational Sciences (2018). FAQs About Rare Diseases | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program. https://rarediseases.info.nih.gov/diseases/pages/31/faqs-about-rare-diseases. Accessed October 19, 2018.
- National Center for Advancing Translational Sciences (2018). Diseases | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program. https://rarediseases.info.nih.gov/diseases. Accessed October 19, 2018.
- Rare Disease UK (2018). Living with a rare condition: the effect on mental health – Rare Disease UK. 2018. www.raredisease.org.uk/our-work/living-with-a-rare-condition-the-effect-on-mental-health-2018/. Accessed October 19, 2018.
- Lauterbach MD, Schildkrout B, Benjamin S., Gregory MD. (2016). The importance of rare diseases for psychiatry. Lancet Psychiatry. 2016;3(12):1098-1100.
- Nunn, R. (2017). “It’s not all in my head!” – The complex relationship between rare diseases and mental health problems. Orphanet J Rare Dis. 2017;12(1).
- Shire (2013). Rare Disease Impact Report: Insights from patients and the medical community. https://globalgenes.org/wp-content/uploads/2013/04/ShireReport-1.pdf. Accessed October 19, 2018.