Rare: A Rare Disease Revolution

Rare highlights the neglect faced by families battling rare diseases within the broader healthcare system. Due to the rare nature and thus limited profit margin of these conditions, large pharmaceutical and biotech companies often turn a blind eye towards developing treatments. Unlike more common diseases like cancer, parents of children with rare diseases are burdened with the responsibility of raising funds and spearheading drug development to save their children. Far from succumbing to their dire situation, these families are channeling their energies into becoming influential advocates and pioneers, pushing forward scientific advancements such as gene therapy and antisense oligonucleotides (ASO). Their fight is not just for their own children but for future generations diagnosed with these diseases.

There are approximately 10,000 identified rare diseases. Research into gene therapy holds promise in rare disease treatment, as more than 80% of rare diseases have a known monogenic (single-gene) cause. Gene therapy is a type of medical treatment that involves adding, removing, or changing a person’s genetic material or DNA. Traditional small-molecule drugs (drugs that can enter cells easily because of low molecular weight) often minimize symptoms rather than cure the disease. When treating a chronic condition, this can mean frequent administration of drugs is necessary to manage the condition. In contrast, gene therapy has the potential to correct underlying genetic defects, offering a cure rather than simply managing symptoms. Moreover, successful gene therapy may require only a single dose to confer lifelong improvement rather than requiring a lifetime of ongoing treatment. Gene therapies offer patients a better chance at long-term improvements in how their bodies function and their quality of life. Scientists have been researching gene therapies for decades, but the U.S. Food and Drug Administration only recently approved the first gene therapy for patients in 2017. Many others are currently being evaluated in clinical trials. As a new modality of treatment, gene therapy presents unique technical and regulatory challenges.

In order to advocate for the treatments that hold promise for curing future generations of children with the same rare diseases as their own children, these parents first familiarize themselves with the medical science of these rare conditions that remain largely unstudied. They then apply that new knowledge to biotech and pharmaceutical research to understand what advancements hold promise for the specific condition. Inevitably, these parents end up having to act as public advocates and fundraisers to either fund creation of new therapies or draw attention and resources to slow-moving and underfunded research.