Announcing the Student Voice Prize winners and runners-up for 2024!

Drawing from my journey as both a rare disease patient and a medical student, this essay explores how the rare disease achalasia has shaped my life, alongside the experiences of another young patient, Isobel.

Most importantly, this essay highlights the critical role that individual healthcare professionals play in shaping young patients’ experiences of their condition. Although diagnosing and managing rare diseases can be challenging due to limited research and awareness, through my own experiences, my experiences demonstrate that individual, intentional changes can have profound impacts.

By engaging with and believing young patients, individual healthcare providers can reduce misdiagnoses, alleviate isolation and uncertainty, and ultimately, improve healthcare outcomes for young people with rare diseases.”

However, their needs are often underrepresented in health policies at national and global levels. This essay delves into the key issues faced by young people with rare conditions, particularly focusing on the case of Stargardt’s disease, a genetic eye disorder that causes progressive vision loss.

Drawing from my personal experience of managing this condition in India, the essay highlights barriers such as delayed diagnosis, limited access to specialized care, and insufficient support for social and educational needs.

Despite the introduction of policies like India’s National Policy for Rare Diseases (NPRD) and global initiatives by the United Nations, these frameworks often emphasize medical interventions without addressing the holistic needs of young patients.

The essay argues for the need to better incorporate the voices of young people into policy-making to ensure that their social, emotional, and educational priorities are addressed. Only by adopting a more inclusive approach can health policies truly enhance the quality of life for young people living with rare diseases.

With up to 75% of rare conditions beginning in childhood, young people’s participation in rare disease research is a fundamental priority.

However, research in children presents significant ethical, logistical, and financial challenges, especially with such small populations. The aim of this essay is to explore these challenges in detail, in addition to the risks and benefits that rare disease research can have for patients, their families and the broader healthcare community.

It will also illustrate the preferences and priorities of the rare community using case studies, with a particular focus on Mrs P, who cares for her son with Pitt-Hopkins Syndrome.

Unique challenges also stem from the rare disease diagnosis itself, forming an intersectionality with their inward identity and how other perceive them. Erin is a patient whose family history meant she was screened and diagnosed at birth with Type 3 Gaucher’s disease, bypassing the prolonged diagnostic journey characteristic of rare diseases.

This article instead aims to explore the implications on Erin’s identity throughout her childhood and the holistic role of the healthcare professionals who supported her. An emphasis on child-centred care, addressing educational gaps and seeing children beyond their diagnosis, will be highlighted as meaningful steps towards preserving their identity throughout their patient pathway.

This essay evaluates current rare disease policies across different regions and levels, with a focus on national and global initiatives, clinical and economic challenges, and the impact of genomic research.

Through the case study of Ben, a young Welsh man with congenital panhypopituitarism, this essay will highlight the limitations of existing policies and the implications for children and young people with rare diseases.