Improving care pathways for people living with rare bone diseases

Rare Bone Diseases (RBDs) represent a heterogeneous group of 771 rare conditions of genetic origin — in which achondroplasia is the most common — that affect the development, growth, and structure of bones and cartilage, causing short stature and abnormalities of the limbs, extremities, and spine.

During the Rare Bone Disease Summit — which took place in December 2021 — key aspects were discussed and proposals to overcome the challenges and improve the lives of people living with Rare Bone Diseases were presented. This recently published article provides an overview of the key points from this meeting, summarizes the subsequent action plan, and discusses the next steps in this continued collaboration. Here are the most important points of the article:

Common challenges in RBDs

Diagnostic Delay

Key unmet needs were identified and diagnostic delay was considered to be a major challenge for patients, their families, and care providers. This delay is related to a lack of awareness of RBDs among healthcare professionals (HCPs), with many, including specialists, not recognizing concerning presenting features that should arouse suspicion of RBDs.

What causes this lack of awareness?
According to the article, "insufficient inclusion of materials related to RBDs in medical school curricula, limited HCP interest and time, a lack of perceived interest from the pharmaceutical industry, and time constraints on HCPs educational and patient-facing time were identified as critical factors that may contribute to poor understanding of RBDs by HCPs. In addition, an absence of appropriate assessment tools or guidelines may also impede a timely, accurate diagnosis."

Some of the features that were identified during the summit are shown in Fig. 1:

Patient care pathway

According to the article's authors, "once diagnosed, patients should be on a pathway to receive specialized and personalized care, and dedicated support. However, many aspects of the patient care pathway were highlighted as challenges for patients and caregivers. Primary care physicians are not always aware of how to refer patients or who to refer them to. In addition, in underserved communities, a specialist referral could mean costly journeys or be hampered by language barriers. This lack of effective and timely referrals leaves patients stuck in a diagnostic limbo, during which they do not receive appropriate care nor support".

The importance of a multidisciplinary team (MDT)
A lack of awareness of the importance of a MDT, and the absence of RBD experts in many countries and regions, can also result in a barrier to care. This is particularly prevalent during the transition from pediatric to adult and adult to geriatric care. "These transitions were described, almost universally, as poor; many patients and caregivers bravely becoming their own care coordinators, while others fall behind into an unsupported path." It was also identified as a priority the need for RBD referral networks, informing how to refer patients and the location of specialized care centers (SCCs).

Patient-HCP communication

Communication can be challenging for patients and care providers. Patients have difficulty understanding medical terminology, knowing which problems are most relevant/urgent, and expressing how they are feeling. Some have reported feeling like it is their responsibility to explain their diagnosis to physicians to ensure continuation of their own care. However, communication difficulties are bidirectional. Examples of the identified communication gaps are highlighted in Fig. 2:

Cultural differences

The stigma that some communities still hold towards RBDs, mainly because of their physical effects on people, is also an obstacle. As the article points out, "families may hide their children from society and doctors for fear of being excluded". In these communities there are less patient support groups and "the quality/amount of information they provide also vary around the world, increasing inequalities and leaving many patients feeling isolated or uninformed".

Overcoming Barriers

Categories of activities to overcome barriers to optimal RBD care

In the article, four main categories of activities that can help overcoming barriers in RBD care were identified and listed. Proposed actions were split in terms of priority: those that could be actioned in the short-term (2022/2023) and those that would be more long-term goals (2024 and beyond). You can find the table here.


The future
The next RBD Summit will focus on aspects that will contribute towards the long-term goal of improving the lives of patients and emphasize the importance of continued collaboration of HCPs, societies, patients and patient organizations, pharmaceutical organizations, and independent medical education providers, in RBDs as well as other therapeutic areas.




This text was based on:
Chandran, M., Alves, I., Carpenter, T. et al. Improving care pathways for people living with rare bone diseases (RBDs): outcomes from the first RBD Summit. Osteoporos Int (2023). https://doi.org/10.1007/s00198-023-06791-x

Find the complete article here.