While each rare disease is diagnosed in <5/10,000 people, altogether they effect 1/15 people. As such, the impact of these disorders is felt by a diverse audience at diverse levels. Due to the rarity of each individual disorder, treatments can be inaccessible in some cases. This means that any new discoveries can have a huge impact on the quality of life of the patient. However, there are still a number of barriers that exist to challenge patients, clinicians and researchers wanting to access new treatments.
If you are suffering and had failed treatment in the past, then hope can feel like a risky luxury due to the devastation from previous attempts.
The first barrier comes from a lack of knowledge about rare conditions. The patient is already working from a disadvantage of having to explain a condition that they themselves may struggle to understand. An example is seen for patients with hypophosphatasia, a metabolic bone disorder that can present in adulthood with frequent fractures. In response a clinician may prescribe bisphosphonates, believing the patient has osteoporosis. However, as a result the treatment can cause more fractures. With greater recognition, patients can gain a sense of ease and trust.
Additional issues come from the effects of treatment. Fabry disease, a lysosomal storage disorder, can be managed with enzyme replacement. However, some patients may see very limited effects from this. This brings into appreciation one of the largest barriers, hope. If you are suffering and had failed treatment in the past, then hope can feel like a risky luxury due to the devastation from previous attempts. This brings the challenge of whether it would hurt more to try a failing new treatment versus the potential benefit.
Important to note is the psychological burden on patients. Having a chronic illness with no cure but continuous treatment can be hugely disruptive. For patients with disorders managed by dietary modification, the requirements of treatment can lead to obsessions regarding dietary control that can take substantial energy to maintain. The psychological consequences of these disorders can be huge and make it difficult to have the energy to access treatments.
Practically, there are further challenges. Patients with rare diseases are just like any other and can have the same problems in accessing healthcare (i.e. time constraints, transportation, etc.). Problems can occur in communication as well. If a patient speaks a different language to the medical team, has sensory impairments or a learning difficulty, then the consultation can lead to a misunderstanding of the person’s needs.
Additionally, there are economic deterrents. Due to the rarity of the disorders, pharmaceutical companies may charge more for treatment. This means that often the cost of any treatment can be substantial or unaffordable.
Improving access and supporting patients
To improve access the foremost action for medical professionals is achieving a trusting, collaborative relationship with patients. For patients with rare diseases, this can be best achieved with a specialist, highly knowledgeable multidisciplinary team. While this team can provide good primary care to patients, they can also advise other professionals with less knowledge about these conditions, for subsequent care. Provision of accessible support is key to providing proper care to patients so they can believe that everyone is working with them.
[Self-care] is particularly important in the case of rare disorders as the patient becomes the expert in their own disorder and may know more than many professionals.
Another important step is supporting patients to feel empowered to make decisions about their future. Self-care is an important part of the management of chronic disorders. This is particularly important in the case of rare disorders as the patient becomes the expert in their own disorder and may know more than many professionals.
Patients need to be provided with information so they can use this to supplement what they know about themselves. Support groups with others who have the disorder can also help, as meeting with other experts can provide new ideas. Information should be provided in formats that can enable everyone accessibility to knowledge, whether by using social stories, sign language or any other applicable method.
Accessible information then needs to be communicated to the people deciding funding. Through discussing methods to supplement the costs of treatment, or to show the need for new treatments, this can help shape how funding is decided and provide additional research studies.
Patients with rare diseases are like any other patient and require the best care we can provide. While we are currently limited in the treatment we can offer to each individual, more discoveries are occurring on a regular basis.
While the barriers are evident, with practical and sensitive care it is possible to support patients in trying treatment. I believe that the backbone for this stems from a knowledgeable multidisciplinary team that patients can place their trust in. With practical person-centered support for everyone, this improves accessibility, and further advances which will impact the next generation ultimately aiding patients of the future with the lessons from today.