How Can We Help the Rarest of Rare Patients?
Rare diseases collectively affect 25 million Americans and 400 million individuals worldwide. Patients with rare diseases such as proximal spinal muscular atrophy, Guillain-Barré syndrome, and osteogenesis imperfecta are vulnerable in so many ways. These diseases are often chronic, disabling, and life-threatening. A large number of these diseases are congenital, and children are most affected. On many occasions, rare diseases that begin in childhood span a lifetime and not only result in the physical detriment of the individual, but also financial hardship for the caretakers. The small number of patients, fewer than 200,000 across populations, means there is less incentive to fund research and develop medical treatments and interventions. Recently, thanks to efforts from patient organizations to push for legislation, such as the Orphan Drug Act and the Rare Diseases Act, there is more interest in pursuing solutions that patients need. However, when rare diseases are present in indigenous populations or various minority communities, they pose different ethical and economic challenges. Cultural and language barriers can limit access to diagnosis and treatment. For instance, Maroteaux-Lamy syndrome (Mucopolysaccharidosis VI), a progressive condition that leads to skeletal deformities, stunted growth, and premature death, affects 1 in 43,261 births among Turkish immigrants in Germany, making it roughly four times more common than in the German population at large. In Colombia, there are 27 cases known in indigenous populations, which is about 1 case in 1.7M of the general population of the country.
How much harder must it be for those with a rare disease who don’t speak the majority language of their country? Special resources are needed to help patients with rare diseases who don’t speak the language where they live, or children whose families don’t speak the majority language. Advocacy groups who help connect those patients with experts, clinical trials, and communities that can help them may find an ally in a medical translation service that understands the importance of cultural competence and health literacy when reaching out to vulnerable communities. In addition, language barriers are one more challenge clinical research organizations face when developing safe and efficacious drugs for rare diseases. Linguistic validation and cross-cultural adaptation of clinical documents are an important part of developing instruments that are both medically precise and culturally sensitive.
Which Outreach Materials Are Most Important to Translate?
Sharing patient stories is a common way for rare disease advocacy groups to attract new patients. Putting stories that patients can relate to front and center helps them identify an organization that can help them, and having such stories readily available in common minority languages can help cast a wider net that will bring more people into the fold, thus helping more people, and creating more financial incentive for companies to develop cures and treatments.
Patient stories and other relatable materials will often be in the form of text, like a website or pamphlet, but more and more advocacy groups use videos to communicate with patients as well as care providers and manufacturers. Translating a video involves many extra steps, whether you choose to use subtitles or a voiceover. A medical translation company will have the experience and technology required to easily add voiceovers or subtitles and make sure they are accurate and timed properly.
Translating for Clinical Trials
When fighting rare diseases, recruitment for clinical trials is essential in helping the medical community gain new insights. When the population that desperately needs a solution is small, it can’t afford to leave out any potential test subjects. If the participation is lower than it could have been, not only does it undermine the importance of new treatments, it also hinders researchers’ ability to achieve statistically significant results. The more participants there are, the more freedom a study has to isolate variables and clearly identify trends.
Needless to say, translating materials for a clinical trial is complex. Medical translation services who specialize in translating clinical research instruments use particular methods to guarantee their accuracy and clarity. This is known as linguistic validation. Linguistic validation follows several steps, the first of which is called forward translation. Here, two scientific or medical translators independently provide translations of the instrument. In the next step, called reconciliation, both translations are compared and combined into one that preserves the best parts of each rendition. Then two independent translators, neither of which has seen the original document, translate the reconciled version back to the original language. This step is called back translation and ensures that the meaning and intent of the original text remains intact and that no ambiguity has arisen from the translation. Then, an expert analysis is performed to compare the back translations to the original document and identify possible mistranslations. Finally, the translation team works together to produce the final version.
Linguistic validation produces accurate translations that have the same meaning as the original, but extra steps are required to ensure that they are culturally appropriate. As an example, a questionnaire that asks about physical activity by mentioning ice-hockey might not be relevant in, say, an equatorial country in Africa. Thus, an alternative suitable translation should be used.
Finally, in order to make sure the translation is understood, relevant and doesn’t have any confusing or misleading terms, a sample of 30 to 40 people should read it. This group is later interviewed and asked to rephrase what they understood. Interviews are conducted until a certain percentage of understanding is achieved. The instrument is adjusted and evaluated again and finally administered to participants in a study.
In the past, medical translation was seen as a luxury, and the burden of translating was simply left on the shoulders of minority communities. As a result, miscommunication was the norm. Fortunately, the mutual benefits of providing multilingual materials to patients are becoming more defined. Bringing more patients with rare diseases and their families into the fold can help stack the deck in favor of those who need new treatments the most, no matter what language they speak.