Shining a Light on Unmet Needs for Rare Disease Patients

People living with a rare disease known as hereditary transthyretin amyloidosis, for example, face barriers beginning with timely, accurate diagnosis and spanning the duration of their care. The disease is caused by a hereditary gene mutation that leads to a build-up of abnormal protein in different bodily organs. It can cause debilitating cardiovascular, neurological, renal or other symptoms.

Working with hATTR amyloidosis organizations from across Europe, EAfPA developed a policy paper to draw attention to unmet needs that patients with hATTR amyloidosis were facing. These included:

• Early & accurate diagnoses
• Equitable access to treatment
• Guidance on genetic testing
• Support for families & carers
• Broad access to guidelines

Unmet needs also challenge people living with neuromyelitis optica spectrum disorders (NMOSD), a rare autoimmune condition of the central nervous system that causes deterioration to a person’s optic nerve and spinal cord. The deterioration can result in permanent vision loss, paralysis, loss of bowel and bladder control, and muscle weakness.

As explained in a recent GAfPA policy paper, these patients often face:

• Lack of awareness
• Shortage of specialists
• Outdated treatment guidelines
• Inequitable access to innovative treatments
• Inadequate support for caregivers

These unmet needs are not, unfortunately, unique to hATTR amyloidosis or NMOSD.

While there are more than 7,000 known rare diseases, the challenges for people living with them can be similar. Rare Disease Day works to encourage access to diagnosis, treatment, health and social care for all people affected by rare diseases. The initiative continues to grow since its inception in 2008, now with events being held in over 100 countries.

As advocates work together to improve access for rare disease patients across the globe, they also aim to make strides toward addressing the many unmet needs these patients face.