In November, I participated in the Rare Disease Reporting Fellowship organized by the National Press Foundation (NPF). Together with 62 journalists from around the world, I learned about current scientific developments in the field of rare diseases, as well as valuable information on patient communication and preventing misinformation. Sharing practices, policies and approaches from different geographies helped me to better understand both common global issues and how local differences are reflected in the lives of patients.
With the knowledge I gained from the training, I will prepare a study on a rare form of cancer in women to be published in CancerDisinfo. Before I start this study, I wanted to share what I learned in the training with CancerDisinfo readers.
Telling stories about illness is often an emotionally challenging process. When it comes to rare diseases, there are many unknowns. Both scientific uncertainties and lengthy diagnostic processes make it even more critical for journalists to ask the right questions and craft a sensitive narrative.
Many patients are hesitant to share their experiences for fear of being stigmatized, misunderstood or judged by the public. It is therefore crucial that journalists create an environment where individuals and families can safely tell their stories, while upholding high ethical standards for informed consent, privacy and dignity.
Health and science journalism is such a sensitive field that even with the best of intentions you can be perceived as ‘hope mongering’.
It is often said that journalism is a matter of balance and distance, which is precisely why it requires great sensitivity to report new scientific advances without exaggerating, without creating false hope, and without dramatizing the stories of people struggling with the disease.
Around 350 million people in the world today live with a rare disease and the number of identified rare diseases is estimated to exceed 7,000. There is still no effective treatment for the vast majority of these diseases. Delays of up to 5-7 years in the diagnosis process further aggravate the situation. Millions of people continue to live in uncertainty for years without knowing which disease they have.
It is estimated that rare diseases affect one in every 16 people in Turkey, with approximately 5 million people in this group. Each rare disease has unique diagnostic, care and treatment requirements, requiring specialized medicines, medical devices, nutritional products and supportive services. Even though the disease is rare, the effects are all too familiar: heavy care burdens, lengthy diagnostic processes and profound psychological effects.
Rare disease communication
The program started with a presentation by Dr. James Levine, President of Ipsen Fondation, a France-based non-profit organization that aims to raise awareness of rare diseases, improve scientific knowledge and overcome communication gaps in this field.
Levine explained that in their study with 45 associations selected from more than a thousand rare disease organizations, they determined that there was no common communication approach in the field. Due to this deficiency, the organization prepared various materials on rare disease communication and made them available. According to Levine, the biggest problem in the field is that the stories of patients who remain undiagnosed and invisible in the healthcare system are not heard enough. This assessment reveals both the gaps in communication and the need for reliable sources of information for journalists working on rare diseases. The materials prepared by the organization are among the main sources that journalists can consult during their research process.
Avoiding the language of miracles
Victoria Gray is a patient with sickle cell anemia who made medical history in 2019 as the first person in the world to receive CRISPR-based gene therapy. Gray, who talked about her disease, treatment process and her experiences in the program, lives with intense pain crises, frequent hospitalizations and severe physical limitations before the treatment; after the treatment, she became one of the most striking examples of scientific progress in this field by achieving a pain-free and independent life.
Although Victoria Gray’s treatment was successful, it is important that new approaches such as gene therapy, which are still experimental, are not portrayed as ‘miracle solutions’ that offer exaggerated hope to the public. When reporting on such scientific developments, journalists need to manage expectations and share the real-life experiences of patients without overgeneralizing.
Ignored psychological process
Philip Langat, founder of the Kenya Motor Neurone Disease Association, joined the program as one of the most striking examples of the invisible psychological burden of rare diseases on families. Langat, who lost four members of his family over the years due to motor neuron disease, explained how the uncertainty of diagnosis, difficulties in accessing health services and the high cost of care led the family into an emotional and economic crisis. In Kenya, the lack of specialized centers for neurological diseases, cultural misconceptions, and the almost complete absence of mental health support exacerbated the effects of the disease.
Langat’s experience demonstrates the need for a reporting approach that takes into account not only the medical but also the psychological and social dimensions of rare diseases. While such stories offer a powerful human testimony, journalists need to avoid dramatization when reporting these narratives and objectively reflect the real conditions without fear, despair or miraculous cures. Making the mental health impact of rare diseases visible is a critical step in drawing attention to the chronically overlooked problems of this field.
“Follow the money”
One of journalism’s most effective tools, “follow the money” empowers journalism, especially in areas such as corruption, the use of grants/aid funds, public policies and rare disease support programs. This tool enables journalists to answer the questions “where does the money really go, who benefits, who is left out?” in relation to policy or promised support.
In her investigation into India’s rare disease policy, journalist Rupsa Chakraborty has uncovered a deep gap between the promises on paper and the reality on the ground. The rare disease policy, which came into force in 2021, promised patients support of up to 50 lakh rupees (about 60 thousand dollars). However, Chakraborty found through documents obtained through an access to information request that only about 30 percent of the budget allocated reached patients, while the rest remained unused.
Patients with severe genetic diseases such as SMA, Gaucher, Pompe, Fabry and MPS, who need a lifetime of costly treatments, have suffered the most.
Children whose treatment is cut off because funding stops flowing develop irreversible organ damage, and some die during the waiting period. Chakraborty says many families have been forced to sell their land, savings or gold to sustain treatment.
The Indian government does not keep a centralized record of how many applications have been made or how many children are awaiting funding and incomplete treatment, leading to a critical data gap that exacerbates the problem.
Chakraborty’s account shows that persistence is essential for journalists investigating rare disease policy. Despite submitting around 10 Freedom of Information requests, she received only three responses.
As Chakraborty emphasizes, it is critical for journalists working in this field to relentlessly repeat their applications for access to information, to use appeal mechanisms when bureaucratic obstacles are encountered, and to establish a relationship of trust with physicians working in the field to access documents behind closed doors. Because when it comes to rare diseases, the truth can only be reached through persistence, data and recording testimonies in the field.
Rare diseases are one of the most critical challenges not only for medicine but also for journalism. Diagnostic delays, costly treatments and policy gaps can only come to light through persistent research and by making invisible lives visible. Health and science journalism plays a vital role in this field, both as a means of holding people to account and as a voice for patients. Therefore, covering rare diseases is not just a matter of news production; it is also an ethical space where public responsibility, human stories and scientific truths intersect.
Murad Karabulut 
CancerDisinfo