Edition of 31 January 2023

A new study has been published investigating the impact of COVID-19 on the care of patients with rare and undiagnosed diseases (RUDs) in France. By extracting data from the French national registry for RUDs (BNDMR), the authors were able to longitudinally quantify changes in both in-person and remote care activities throughout 2019 and 2020, and found that delays in diagnoses and care are likely to persist for several years.

In March 2020, France, like many countries, began introducing strict public health restrictions. These included several nationwide lockdowns, which limited access to health services for nonemergent concerns. Additionally, many patients with RUDs are at higher risk for developing more severe forms of COVID-19, leading them to avoid healthcare facilities for fear of contracting the virus. This is reflected in the authors findings, which show a 13% decrease in the number of in-person activities recorded in the BNDMR in 2020 compared to 2019.

In order to accommodate for the decrease in face-to-face healthcare, telehealth activities were massively scaled-up during the pandemic. This held true for patients with RUDs, with an increase of 277.1% from 2019 to 2020. However, telehealth was not sufficient to make up for the decrease in in-person activities, nor was it enough to help the French health system catch up with the many patients waiting for care when public health conditions improved. As a result, 2020 saw an overall decrease in the total number of RUD patients followed and their associated appointments.

The results of this study are in keeping with global findings about the impact of the pandemic on people living with rare diseases, as well as its effects on other health domains such as oncology and clinical research. Overall, while telehealth was a key tool in helping health systems adapt to COVID-19, healthcare networks need to develop further innovative solutions to address ongoing delays in accessing care, and to foster long-term health system security in case of future crises.

A new study published in the Orphanet Journal of Rare Diseases investigates the particular role of adolescents in determining the trajectory of the search for a diagnosis.

In the case of rare diseases, obtaining a diagnosis is often an extremely lengthy, complex, and emotionally draining process. Many families feel these challenges are worth the benefits they will gain once a diagnosis is secured. However, as emotions and expectations shift throughout the course of the journey and children age into adolescence, families may re-evaluate or abandon their search altogether.

In order to better understand the role of adolescents in a family’s decision of whether or not to continue searching for a diagnosis, researchers conducted a series of semi-structured interviews with the parents of children who had applied to the NIH’s Undiagnosed Disease Network. This uncovered a series of underlying themes related to why families might choose to reassess, pause, or discontinue a search for a diagnosis. The themes were: a diagnostic odyssey and extensive care needs requiring a high level of parental involvement; a sense of parental duty to find a diagnosis; and conflict between the opinions of parents and children or adolescents.

Overall, the study found that the growing strength of a child’s voice as they enter adolescence was both a significant motivator and barrier to continue searching for a diagnosis. Incorporating the child’s opinions into care decisions can either stimulate or slow efforts, depending on their position. In this way, the beginning of adolescence often serves as a check point, at which families are more likely to reconsider their diagnostic search. Providers need to be mindful of this, and ensure that ongoing conversations about the goals of the search are being had, particularly as children reach adolescence.

A recent study published in Frontiers in Public Health presents a comprehensive picture of the experiences and daily lives of rare disease patients and their families in Türkiye.

In order to establish a broader knowledge base of rare disease experiences in Türkiye, researchers analysed survey data collected under the Istanbul Solution Platform for Undiagnosed and Rare Diseases, or ISTisNA project. Their findings indicate that the rare disease community in Türkiye faces similar challenges to those which have been previously described in other countries. However, there are also region and country-specific issues which need to be addressed.

While Türkiye has legislation protecting the rights of disabled people, this does not always capture all the accommodation needs of people with rare diseases. As such, it can be difficult to access appropriate and sufficient arrangements in school and work environments.

There are also a number of barriers to accessing care for rare diseases in Türkiye. The country has an inadequate number of rare disease facilities, and specialists are highly centralised in urban centres. As such, many patients have to travel a significant distance for proper treatment or diagnosis. Additionally, while there is financial support available for the families of disabled children in addition to state insurance, it is not sufficient to cover the expenses of people living with rare diseases. Finally, accessing medications can be complex, with a number of EMA-approved orphan drugs either not available or ineligible for reimbursement.

Moving forward, the ISTisNA project activities will continue striving to improve the lives of people living with rare diseases and their families, and will help guide the activities of Türkiye’s national rare disease action plan.