Living with a rare disease

Diagnostic Odyssey

It takes on average 5 years for a person with a rare disease to receive a correct diagnosis. Often times symptoms are initially not taken seriously when doctors cannot find an obvious diagnosis. What follows are years of visits to specialists, uncountable tests and sometimes misdiagnoses. This obviously causes a delay in appropriate treatment, care and therapy.

The time prior to the correct diagnosis is a period of uncertainty, anxiety, anger and frustration for many of those living with the disease and their families.

Isolation

Many individuals living with a rare disease feel isolated and left behind because of the scarce information available, insufficient expertise in the healthcare sector and a lack of understanding among friends and peers.

Many face discrimination, exclusion, and stigma at work, at school or in their social interactions. This not only concerns those individuals living with a visible impairment, but also and especially those having invisible symptoms that vary from day today.

Few treatment options

For most rare diseases, treatment options are very limited and address mostly symptoms, not causes. One of the main reasons is that, by its very definition, any specific rare disease affects only few individuals. This is a particular challenge for clinical trials that generally require many participants, but also in terms of incentivizing pharmaceutical companies to invest in the costly development of new treatments.

If a treatment for a rare disease is available, other hurdles need to be overcome. Available treatments are often complex and expensive. Access in Luxembourg is not always possible, and many patients face administrative issues.

Adaptation of professional or educational path

The symptoms caused by rare diseases often lead to a loss of functional independence. According to a recent survey by EURODIS (Rare Diseases Europe), 8 rare disease patients and carers out of 10 have difficulties performing daily tasks like household chores. According to the severity of the disease, many practical issues arise, such as access to technical aids, the cost of adaptations to the home or the rearrangement of the working place (if at all possible). Many children living with a rare disease have special needs to be met for them to thrive at school. Concerned individuals and their family members are often forced to adapt, reduce or stop their professional activity to manage the many consequences of the disease on their activities of daily living.

Risk of mental health struggles

The emotional turmoil during the diagnostic odyssey, the isolation, the lack of cures and the loss of independence, coupled with physical symptoms, exposes individuals with a rare disease to a higher risk of developing mental health disorders. For example, persons living with a rare disease and their carers are 3 times more likely to report being unhappy and depressed than the general population, according to the EURODIS survey.