National Plan for Rare Diseases

The road ahead for state of rare diseases in Luxembourg

Over 30,000 people are affected by a rare disease in Luxembourg. Shutterstock

Over 30,000 people are affected by a rare disease in Luxembourg. Shutterstock

Often overlooked, rare diseases need our attention and the government’s actions. Regular Delano guest contributor Dr Lilani Abeywickrama examines the state of research for rare diseases in Luxembourg and highlights the needs to be addressed by the government and general public.

Luxembourg’s National Plan for Rare Diseases (NPRD), presented in 2018, draws to a close this year. Rare diseases (RD) are gaining more of a platform as the country undertakes the task of managing a complex medical topic.

What are rare diseases?

The accepted definition of an RD is a disease affecting less than 1 in every 2,000 people. To date, that would correspond to just over 30,000 people in the grand duchy. These are illnesses that are chronic in nature, often leading to disability, and ultimately the cause of premature death. More specifically, over half of RDs manifest in childhood, and of these, 30% are the cause of infant mortality. They can range from childhood cancers to more known conditions such as cystic fibrosis or Huntington’s disease. 80% of these conditions are genetic, with 3-4% of them affecting newborns.

Putting this into perspective: the causes of RDs are very broad, making the process to diagnose patients arduous, with patients sadly dying without an accurate diagnosis. This is mainly due to the overly empirical approach of diagnostic techniques. These techniques are often invasive, and--to add further insult to injury--both the patients and their families incur substantial financial and psychosocial burdens. The lack of infrastructure and awareness leads families to take care into their own hands, causing great emotional toll.

The lack of infrastructure and awareness leads families to take care into their own hands, causing great emotional toll
Dr Lilani Abeywickrama

Dr Lilani Abeywickrama

The disheartening aspect of these conditions is that many patients, misdiagnosed or awaiting diagnosis, receive symptomatic treatment at best. The urge to better diagnose RDs is paramount. Not only will this allow for better patient care, or identifying other physical ailments, it can avoid the unnecessary side effects of suboptimal treatments and thus be an alleviating factor for the patient.

Currently, in the US, which is at the forefront of RD research, a diagnosis takes four to five years on average. This figure has probably worsened globally due to the pandemic, which led to increased delays in presentation and management for RD patients as access to care was limited. ALAN (formerly called Luxembourg Association of Assistance to People with Neuromuscular Diseases and Rare Diseases) notes that they saw an increase as high as 40% in the number of patients they were supporting from 2020 to 2021--a third of these being children.

A public health neglect?

The majority of RDs are termed orphans. What this means is that no definitive treatment is readily available for the majority, and thus patients are treated symptomatically at best. Additionally, so little is still known about each condition that often it is the lack of expertise and awareness that fails patients.

The basis for the RD National Plan was founded on the MARA survey of 2011. To date, as many as 8000 RDs have been identified in the EU. There is too much variability in care within the region, little information to hand amongst professionals, necessitating better coordination and streamlining amongst networks. Over five new RDs are being published in scientific journals per week. The number affected is increasing, hence the increased awareness and interest.

Objectives of the national plan

The ministry put together a comprehensive document for their NPRD with the aim to provide better care and services for patients and their families. The plan outlines the five pillars the government chose to focus on to commence the battle against RDs. The general line of action includes the need to raise awareness, to combat a siloed approach to patient care amongst specialties and to strengthen the networks amongst key stakeholders in RDs.

Area A targets the patient pathway: from prevention, genetic counselling and treatment to continuity of care. Hand in hand with this pillar is the extended environment of the patient, which outlines the need for simplifying administrative processes, social aid, psychological support for patients and their extended circle and healthcare coverage. Pillars entitled Area B and C are the backbone to the process: funding Luxembourg’s national research and development in the field via the creation of a national platform. Resources are lacking; therefore international collaboration is direly needed and specific courses in RDs need to be part of clinical grand rounds and medical practice to better identify RDs. Furthermore, national monitoring and traceability must be made available. These are all necessary elements required for a failsafe national scheme.

The scheme yielded an Infoline for patients and this year saw the production of a handbook for those living with a RD. This puts together all the information with step-by-step guides for accessing schooling, education, and CNS aid amongst other topics. ALAN has generated a lot of public health awareness on the topic with successful coordination with the CHL.

A “one size fits all model” is not appropriate for RD, given the variation in molecular characteristics and response to drugs and other interventions
Dr Lilani Abeywickrama

Dr Lilani Abeywickrama

Given Luxembourg’s size and accessibility issues to accessing care, the plan hopes to benefit from the ties made via European Reference Networks (ERNs) to establish better care with healthcare providers across Europe. This would allow for seamless patient care coordination and enable access to medical specialists abroad to tackle complex cases that Luxembourg lacks expertise in. Tying in with this is the need to empower the patient. Patients have access to patient associations and a database of recognised and evaluated centres of expertise. The document highlights gaps equally in research. Though centres (LIH, LNS, LCSB) partake in some clinical trials and international research, more is required to meet the needs of a growing population. Hence, the question of funding can no longer be ignored. Future ambitions for the NPRD include these topics and that of data collection. All data provide important signposts for the future of precision health.

The road ahead

Luxembourg hopes to mirror the success of the French national RD plans, which saw a reduction in the waiting times of RD patient access to care thanks to an increase in public health awareness and amongst health professionals. There has been a push to take part in the knowledge sharing and better cooperation in R&D at a European level. By strengthening internal expertise in Luxembourg and, in parallel, building neighbouring collaborations, we stand a chance at providing the required level of care owed to patients living here.

A child with a RD transitioning to adulthood requires support on many levels. Not only is this paramount on an educational and professional level but also from a socioeconomic standpoint. A mentality shift in the workplace highlighting hidden disabilities needs to occur to understand those affected without targeting them. Such changes have yet to be ironed out and it remains for Luxembourg to come up to speed with its European counterparts. Discussions are still underway regarding the coding for conditions and treatment pathways that do not exist in the CNS, causing difficulties in reimbursement.

A child with a RD transitioning to adulthood requires support on many levels. Not only is this paramount on an educational and professional level but also from a socioeconomic standpoint
Dr Lilani Abeywickrama

Dr Lilani Abeywickrama

The patient centricity of the process must be considered alongside the expenses of testing. The advances made over recent years in diagnostics techniques (such as gene panels, exome sequencing and other genetic tests) has allowed for an increase in diagnosis in 35% of patients who would otherwise go undiagnosed. A “one size fits all model” is not appropriate for RD, given the variation in molecular characteristics and response to drugs and other interventions.

It remains for Luxembourg to build upon recent advances in technologies, genomics, and data analysis to speed time to diagnosis, deepen patient support and promote public health awareness. RDs cut across multiple clinical specialities and care providers. Using digital tools, a path towards an improved and innovative patient journey can be established.

RD is but one example of the force of the democratisation of health. Patients and their families are using all possible channels to source information to diagnose their condition or seek patients worldwide with shared traits, often surpassing the rate at which they are diagnosed. As larger numbers of patients prise open the Pandora’s box of their condition, this information will drive the demand for researched care.

Dr Lilani Abeywickrama is a trained ophthalmologist. Her main interest is advocating for health, technology and medical affairs. She currently works in the field of health and medical management in Luxembourg.