Rare Diseases Poland: 4-Year Diagnosis Wait Time

World Rare Disease Day is celebrated at the end of February – in leap years on February 29, the rarest day in the calendar. The symbolism of this date is intended to emphasize the uniqueness of these diseases. In the European Union A rare disease is one that affects no more than 5 out of 10,000 people. inhabitants.

Most rare diseases have a genetic basis, and about half of them appear already in childhood. In the group of pediatric patients, the situation can be dramatic – it is estimated that up to 30 percent children with severe, genetically determined diseases do not survive to the age of five. As Dr. Proń emphasizes, these diseases are usually chronic, progressive and serious. In the vast majority of cases, there is no causal treatment. Available therapies focus on relieving symptoms or slowing down the course of the disease.

One of the biggest challenges is the time needed to make the correct diagnosis. In Poland, the average path to diagnosis in the case of rare genetic diseases is approximately four years.

The problem is not the lack of modern technology. Diagnostic capabilities are comparable to European standards. The barrier is rather limited access to specialist consultations and reimbursed testsincluding whole exome sequencing (WES), which allows analyzing all known genes and detecting mutations responsible for the disease. Prolonged diagnostics often means lost time. – Prolonged diagnostics most often means irreversible damage to patients’ health, too late implementation of therapies, supplements and symptomatic treatment – emphasizes the expert quoted by PAP.

Not all rare diseases are immediately visible. Some of them are associated with clear developmental defects, which allows for faster diagnosis already in the perinatal period. However, many cases present with non-specific symptoms that may be mistakenly interpreted as other diseases.

– It should be remembered that many rare diseases are diseases that cannot be seen, are not associated with any developmental defects, and produce non-specific symptoms that can be easily confused with, for example, autism, reduced muscle tone, hearing or vision loss or complications treatment of bacterial or viral diseases – explains Dr. Proń.

In recent years, solutions have been introduced in Poland to improve the situation of patients, including: newborn screening program for spinal muscular atrophy (SMA) and the National Plan for Rare Diseases. This document assumes improved diagnostics, development of specialized centers and better coordination of care. Nevertheless, difficulties remain in practice – limited number of places in diagnostic programs, long queues for highly specialized tests and concentration of care in the largest clinical centers.

Rare diseases are not only a medical challenge, but also an economic and social one. They concern the issue of reimbursement of expensive therapies, access to social benefits and flexible employment options for caregivers. Although Each of these diseases is rare individually, but together they create a problem that affects millions of people and their families.

Dr. Proń emphasizes that action is necessary on many levels – from increasing awareness among primary care physicians, by shortening the diagnostic pathto the development of scientific research and cooperation between academic centers, the public and private sectors.