Elżbieta Proń said the main challenge is often delayed diagnosis and limited access to specialist testing, rather than a lack of modern technology.
She spoke ahead of Rare Disease Day, observed on the last day of February, an awareness campaign launched in 2008 by the European Organization for Rare Diseases (EurORDis).
Under the European Union definition, a rare disease affects no more than 5 in 10,000 people. Most have a genetic cause, and about half appear in childhood.
Proń said the stakes can be very high for children, with estimates that up to 30 percent of pediatric patients with rare diseases do not live past age five.
“Population-wise, rare diseases affect about 6 to 8 percent of residents of a given country, which would mean that in Poland, 2.2 to 3 million people suffer from them, roughly the population of Warsaw,” Proń said.
She said many rare diseases are chronic, progressive and severe, and in most cases there is no treatment that addresses the root cause. Care often focuses on easing symptoms or slowing the course of illness.
Proń, who is also the mother of a boy diagnosed with infantile neuroaxonal dystrophy, a rare neurodegenerative disorder known as INAD, said diagnosis depends on how clearly a disease presents.
Some cases linked to visible developmental defects can be investigated around birth. Many others are harder to spot, she said, because they bring nonspecific symptoms and no obvious developmental abnormalities.
“Many rare diseases are ones you cannot see,” Proń said, adding that symptoms can be mistaken for autism, low muscle tone, hearing or vision loss, or complications after treatment for bacterial or viral infections.
She said the average time to reach the correct diagnosis for genetically driven rare diseases in Poland is about four years.
Proń said Poland’s diagnostic capabilities are comparable with European Union standards, but access remains a barrier, including limited specialist consultations and restricted reimbursement for advanced tests.
One example is whole exome sequencing (WES), a genetic test that analyzes all known genes to identify mutations that can cause disease. Proń said long diagnostic pathways can mean irreversible harm and delayed therapies, supplements and symptom management.
She noted that Poland has introduced several system changes in recent years, including newborn screening for spinal muscular atrophy, a serious genetic condition that weakens muscles, and regulatory changes related to disability certification.
She also pointed to the National Plan for Rare Diseases as a key strategy document intended to improve diagnosis, coordinate care and expand specialized centers.
Proń said progress is visible, but patients still face long waits for highly specialized testing, limited places in diagnostic programs and care concentrated in the largest clinical centers.
She added that rare diseases bring major economic consequences, from support for caregivers who need flexible work arrangements to the high cost of therapies, and warned that weak reimbursement and negotiation mechanisms can deepen inequality in access to treatment and fuel social tensions.
She said responses are needed on several fronts, including better awareness among primary care doctors and specialists, faster diagnostic pathways, and stronger interdisciplinary research and cooperation between universities, the public sector and private partners.
(rt/gs)
Source: PAP