The winning entry for the 2019 Student Voice was published recently in the Orphanet Journal of Rare Diseases.

The prize-winning article, a warm and personal account, was written by Annie who was a fifth-year medical student.

Annie was given an assignment to observe a hospitalized patient who has a rare disease.

A Common Sight at Hospitals

This type of assignment happens quite often as patients hospitalized with a rare disease that can be easily diagnosed are frequented by students.

Annie describes how the students are sent out by supervisors to their assigned wards with a simple introduction, giving their names and the reason for their visit.

Annie’s First Assignment

Annie was instructed to examine David’s peripheral nervous system. She could not help but wonder what his disease might be, thinking possibly cerebral palsy or muscular dystrophy.

When she arrived at his room, David, age 23, surprised her by reciting her speech before she could utter a word. He smiled and asked whether she was a fifth-year medical student on her first neurology rotation given an assignment to examine him. He then explained that it was only 10:30 in the morning and Annie was the fourth medical student who had visited him.

Annie’s Diagnosis

A cursory diagnosis showed large pigmented areas all over his body. Upon a more in-depth examination, Annie found that David had a weakness and loss of sensation in his left arm suggesting compression of a nerve in the spinal cord.

At that point, Annie was almost confident that he had neurofibromatosis type 1 (NF1) which is caused by tumors on the spinal nerve sheath.

NF1 has many symptoms, including impairment of neurological development, intellectual disability, and an increased risk of several types of cancer.

The disease does not necessarily shorten life expectancy but there is a reduced quality of life. NF1 affects one out of three thousand people worldwide, thus labeling the disease as being extremely common.

A Simple Question Caused an Emotional Response

David confirmed Annie’s diagnosis, adding his congratulations. Annie surprised him by taking notes and asking questions as none of the other med students had spoken at length with him.

Annie wanted to know the effect that NF1 had on David. When she asked how he was doing, David at first seemed surprised, then he began sobbing.  No one who had examined him in his eight days of hospitalization had bothered to ask how he was feeling mentally or emotionally.

According to a UK study of rare diseases, although the burden of living with a rare disease has been firmly established, forty-six percent of patients and about the same number of caregivers, said they had never been asked about their mental state or well-being.

Fifty-eight studies on the quality of life of patients with rare diseases confirmed that these patients have a poorer quality of life. The end result is that the burden of a chronic illness must be acknowledged.

Studies conducted with young children show that they are affected on a larger scale than adults. Children and teens are conscious of their lack of functioning more so than adults. Patients have substantial support physically but the same cannot be said of psychiatric support.

Suicidal Thoughts

Since age seven, David had suffered panic attacks that were caused by his concern about his condition and how he will be affected in the future. He has been taking antidepressants since the age of seventeen.

He recently became bedridden most of the time. David admitted that he has had suicidal thoughts almost every day but did not know who to talk to, especially not his parents.

For a while, he was participating in a Facebook forum but found that it only angered him when he saw people his age with NF1 who were not as badly disabled.

He told Annie that each day the tumor is literally shredding his nerves and tearing him apart.

The reactions to this type of illness are universal. Patients experience uncertainty about their future, loneliness, no social support, feelings of blame, and being powerless. These emotions accompany anxiety and depression in patients with rare diseases.

The Solution Starts in the GP’s Office

One simple solution would be for a physician to be prepared and as knowledgeable as possible about their patient’s rare disease. All too often, when faced with this situation, the physician relies on the patient for information. In this way, the burden is shared between patients and physicians.

With respect to specialists, it is helpful for them to remember to inquire about a patient’s mental and emotional well-being when treating a rare disease. This shows patients that their wants and needs are being considered in addition to the disease. These personal changes should be added to essential mental health services and support.

Annie researched organizations currently established on a national level. The results showed that there is a need for funding and additional mental health resources. These improvements should be standardized and part of the management of rare diseases.

Another Lesson Learned

Talking to David had more of an impact on Annie than it did on David. She realized that there is a need to focus on a patient’s mental health as well as on the disease. That while treating an illness, the patient is first and foremost a human being.