What every researcher should know. Living with a serious health condition is not easy for anyone, but if the condition is rare, there are extra challenges that patients and caregivers must face by virtue of the very fact that the condition is uncommon. Having researched the patient journey in a host of rare diseases for over 20 years, we at Just Worldwide have identified at least three ways in which living with a rare, ultra rare or orphan disease is more difficult than living with a disease with a high prevalence. We have seen these trends in conditions which are so different from each other that, on the face of it, the only thing they seem to have in common is their rareness.
1. Feeling Isolated
The first of these is a sense of isolation and a feeling of not being understood. Some diseases are very visible. Others are more difficult or even impossible to spot from the outside. Our experience is that, if you have a rare disease, regardless of where it is on the visibility spectrum, there are likely to be times when you feel misunderstood or alone.
If the condition has no external manifestations or symptoms that can be seen, people, even friends and relatives, may doubt the existence of the condition or may feel that the patient is in some way exaggerating the severity of their condition. If a patient expresses concerns about the disease, these may be dismissed with well-meaning comments such as: “but you look so well!” These comments often have the unintended effect of making the patient more and not less reluctant to discuss how they are feeling. Patients withdraw into themselves, and this increases their sense of alienation.
This dynamic has been widely reported to us by patients with fibromyalgia (FMS), as well as those in the early stages of myasthenia gravis (MG) and idiopathic pulmonary fibrosis (IPF). In interviews conducted in these conditions more than once we have heard comments along the lines of: “in some ways it would be easier if I had cancer; people would at least understand.”
With invisible rare conditions, the communication of the diagnosis is experienced as a vindication and provides a moment of relief. Finally, there is a medical explanation for the patient has been feeling all these months or years. However, they continue to battle against a lack of knowledge and understanding about their condition.
Some rare conditions are very visible. They have external manifestations, whether these appear on the skin, in the way the patient moves or some behaviour or speech-related symptoms. Diseases which are rare and visible may well be more subject to stigma than common conditions with external manifestations. This is because people do not identify the manifestation as a symptom of a disease as they are often not even aware that the disease exists. Two examples we have encountered were the ALS patient who was called a drunk in public and the mother of an infant with epidermolysis bullosa who was loudly accused of physically abusing her child to cause the visible wounds on the baby. Understandably, this only added to the considerable distress the mother was already living through
Regardless of whether the condition has external manifestations or not, sufferers are likely to feel a sense of isolation and the risk is that this exacerbates any mental health issues. Further, many rare diseases in many countries are still underserved in terms of support groups, meaning that there may be a lack of opportunities to meet with other patients with the same condition.
Underlying all of the problems discussed so far is a lack of awareness, knowledge and understanding amongst the general public. This is what leads to a fear of the unknown and behaviour which is ignorant in all senses of the word. Ultimately, it is why public awareness campaigns to educate people are so important. It is also why self-help groups and initiatives to get to know other patients and caregivers facing the same challenges are so valued by rare disease families.
2. Losing faith with HCPs
The second thing that is common in patients with rare diseases and rare in patients with common diseases is the fact that at some stage in the journey many patients lose faith in the healthcare system. The most frequent reasons for this are two-fold.
Firstly, the journey to diagnosis can be long, meandering and arduous. Doctors, especially Primary Care Physicians (PCPs), are trained to think of horses, not zebras when hearing hoofbeats, and, by definition, if the condition is rare or ultra-rare, PCPs may see less than a handful of cases of that condition in their whole careers. All of this leads to missed diagnoses, misdiagnoses and wrong hypotheses.
From past research, we know that Fabry Disease patients see on average 8 different doctors and are misdiagnosed 50% of the time before receiving a correct, confirmed diagnoses. Even with IPF, which is less rare than previously thought and where patients present with lung-related symptoms, the median reported time from initial presentation to PCP to confirmed diagnosis was 1.5 years and over half of patients reported consulting at least 3 physicians before receiving their IPF diagnosis (from a study with 45 IPF patients in EU). With such tribulations in receiving a diagnosis, it is no wonder patients begin to doubt the competence of the healthcare professionals they have encountered.
The second reason for a loss of faith tends to come later in the journey when patients realise that there are fewer treatment options and treatment centres compared to more common diseases. Many patients will go on to blame underinvestment by the pharmaceutical industry and a lack of focus on the part of the healthcare system on the treatment of rare diseases, compared to diseases with much larger patient bases (and therefore profit for the pharmaceutical companies).
At worst, this loss of faith can compromise the therapeutic (patient-Dr) alliance, cause patients and carers to become demotivated, and undermine adherence. This, in turn, adversely affects the effectiveness of treatment, making a self-fulfilling prophesy of the patient’s loss of faith.
3. Extra financial burden
The lack of infrastructure or resources to treat rare conditions and the lack of awareness of the condition can also have a detrimental material impact on the sufferer’s family finances. For example, in a multi-country study we did with patients with myasthenia gravis (MG) we heard stories of patients losing out on benefits that were available to them because no-one was aware of their existence, as well as costly legal litigation with employers.
But probably the most frequent additional financial burden comes from additional travel and accommodation expenses. Rare diseases are often treated in a small number of regional or national centres, meaning patients may have to travel long distances for routine appointments. For example, we interviewed a patient with epidermolysis bullosa from one of Italy’s islands who incurred long term costs of flights or ferries to attend appointments in Rome.
In conclusion, like patients with any common disease, people living with rare conditions must come to terms with the diagnosis, make lifestyle changes, adopt and adapt to new treatment regimens, and suffer the impact of the disease and its physical symptoms on their quality of life, emotional, social and familial wellbeing. On top of this, unlike people with high-prevalence conditions, rare-disease sufferers are more likely to feel isolated, to lose faith in healthcare professionals or the healthcare system and to incur additional financial expense.
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