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Diagnostic odyssey is a term reflecting the persistent journey that many patients with rare disorders and their families must go through to get an accurate diagnosis, that on average, takes 5.6 years. Due to the nuances of these rare diseases, patients often need to see a range of clinicians and specialists who don’t always share intensive communication, leaving gaps in the road to a diagnosis. Naturally, this can lead to overspending, intense frustration and hopelessness, and degradation of mental and physical wellbeing.
A neuroscientist and molecular biologist, Dr. Tejal Aslesh Tailor is using her skill in advancing gene therapies and precision medicine for rare diseases to fight for patient-centric health systems. This means prioritizing quality of life for all patients with rare diseases, not just affluent individuals with access to privatized treatments. There is a prevalent gap in healthcare access and unfortunately first-rate care does not always overlap with the greatest need but instead with the most money. When it comes to rare diseases especially, many families wait months to get an appointment for a diagnosis alone, which in turn creates a cycle of treating after a disease has already begun to make an impact when early prevention should be the main goal. Rural areas or minority communities tend to have even less access to specialized treatments, and even if they do, many do not have the insurance needed to cover the costs which can build up fast and be financially ruining for some.
“What drew me into the world of neuroscience was a deep curiosity about how an organ bundled with a complex network of white and grey matter could be the source of resilience but also have profound vulnerability,” Dr. Tejal says. She has spent years working to develop a genetic treatment for a neurological disorder called spinal muscular atrophy (SMA) which causes progressive muscle weakness and atrophy, primarily affecting movement and coordination. Caused by genetic mutations, infants with SMA are born with incredibly weak limb and respiratory muscles, leaving them unable to walk, crawl, and breathe properly. If not treated, those with the most severe form of SMA will not live 2 years. “The currently approved treatments for SMA are extremely expensive and require repeated injections to reach the brain and spinal cord, which can be arduous for patients. My strategy focused on circumventing these invasive injections by modifying the treatment so that the DNA error can be rectified using non-invasive injections,” Dr. Tejal explains.
Developing less invasive treatments for rare diseases like SMA is a game-changer when it comes to quality of life. Consider the progression of diseases, the associated costs, and long-term adverse effects. All of these remain significant contributing factors. Even if a patient is helped by the treatment, they might still find themselves drained emotionally, physically, and financially, facing a whole new set of obstacles when they should be enjoying their health and freedom. The more researchers focus on the actual tangible patient experience, the more humanity is at the forefront of change. Ultimately, a sense of normalcy after the trials of combatting disease is the most many people ask for.
Dr. Tejal’s research focuses on shaping therapies that are more efficient and accessible to those living with rare disorders. Not only is improving and innovating medicine a priority but making its reach wider to cater to patients who can’t shell out a ton of money for care or who don’t live in urban medical hubs. “Rare disease communities are often sidelined, not because their needs are any less important, but they make up a very small subset of the population,” she says. “By centering these communities in research and development, we’re not only improving care for them – we’re moving toward a healthcare system that’s more compassionate, inclusive, and human.”
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Photo provided by the author.
