Rare Disease Inequalities: Women Face Longer Diagnostic Delays in Italy, Georgia Expands Adult Coverage
A new Italian White Paper reveals women with rare diseases wait two years longer than men for a diagnosis, while Georgia expands state-funded care for rare neuromuscular conditions to adults. The report also highlights regional disparities and economic burdens on patients and carers.
Rare diseases continue to expose deep healthcare inequalities, as a new Italian White Paper reveals that women wait on average two years longer than men to receive a diagnosis, and Georgia announces plans to extend state-funded care for rare neuromuscular conditions to adults.
The White Paper, titled 'From Rare to Recognised: Causes and impact of diagnostic delay on the lives of people with rare diseases and their carers', was presented to the Italian Senate. The survey was conducted by Censis and Altems, a spin-off of the Catholic University of the Sacred Heart in Rome, for Women in Rare – a think tank conceived and promoted by Alexion, AstraZeneca Rare Disease, in partnership with Uniamo, the Italian Federation for Rare Diseases, and in collaboration with the Onda Foundation and a multi-specialist and institutional scientific committee. The study found that the diagnostic pathway is fragmented into two critical stages. The first – from the onset of symptoms to the first medical consultation – takes an average of 2.5 years, but a gender difference is apparent: women wait on average almost 3 years, whilst men wait 1.4 years. This is followed by a second stage – from the first consultation to the definitive diagnosis – which takes an average of 3 years.
The consequences of rare diseases affect a wide range of areas of life, from family relationships to work, leisure activities and socialising with others. In the south of Italy, one in two patients is forced to travel outside their region to obtain a diagnosis. The study also found that 37.2 per cent of female carers give up work to look after a loved one, and among those who were employed at the time of diagnosis, 46.6 per cent were forced to take early retirement.
Meanwhile, Georgia's Ministry of Health is continuing work to expand state-funded medical services for patients with rare neuromuscular conditions, with plans to extend coverage currently available to children to adult beneficiaries as well. The initiative is part of a broader update to the state programme for rare diseases, which will offer an expanded package of diagnostic, inpatient and outpatient services for patients with conditions such as spinal muscular atrophy, Duchenne muscular dystrophy and Becker muscular dystrophy. The Health Minister, accompanied by the Deputy Minister, met with clinic representatives and hospital management interested in joining the programme. The Health Minister said that continuous monitoring remains one of the most critical components in managing neuromuscular diseases, and that the planned expansion will significantly improve patient outcomes by ensuring broader and more systematic access to medical services. Once fully implemented, beneficiaries will be able to receive multidisciplinary care, including consultations with neurologists, cardiologists, pulmonologists, endocrinologists, gastroenterologists or nutritionists, and orthopaedists. The programme will also provide access to a wide range of clinical, laboratory and instrumental examinations, aimed at improving early detection, monitoring and overall disease management. The Ministry emphasized that the expanded services are designed to enhance long-term care and quality of life for patients, while ongoing efforts are focused on ensuring that adult patients are fully integrated into the state-funded system alongside children.