Patients: Bridging the Gap Between Rare Diseases and Medicine


Patients: Bridging the Gap Between Rare Diseases and Medicine

The field of medicine is continuously making strides toward the future with the help of cutting-edge technology and the never-ending pursuit of medical professionals to find answers. It may seem unlikely that there are conditions still unknown to man because of all these developments, but the existence of rare diseases has proven it otherwise.

Rare diseases such as infectious diseases, cancers, and congenital disabilities affect only fewer than 200,000 people at a time. The exact definition for rare diseases may vary from country to country, but the overarching premise is that they only affect a small population, unlike non-rare conditions.

They are also called orphan diseases because big pharmaceutical companies are hesitant to adopt them because of their low profitability. That’s why the Orphan Drug Act was created so that the drug companies can be motivated by the financial incentives being given to those that choose to pursue the development of rare disease treatments.

The Current Progress of the Rare Disease Community

To date, there are more or less 7,000 rare diseases that have affected 25 to 30 million Americans. These diseases might be rare, but that doesn’t mean that they aren’t affecting many people who need access to proper healthcare because 95% of these rare diseases still have no available treatment options.

Rare diseases were initially thought to be genetic, which can be passed down from generation to generation. Unfortunately, there is not enough data from existing cases of rare diseases to determine their exact origins. That is why continuous research initiatives are important for the future of medicine.

Just look at how easy it is for average consumers to buy over-the-counter drugs for common colds, fevers, and headaches. It might still be too early to hope that seeking treatment for rare diseases will be as accessible as the medicines for common illnesses, but the medical community can dream.

Like the development of cures for common diseases, finding the cure for rare diseases is only possible through extensive study and research. Among all the methods used to diagnose and develop potential cures for rare diseases, clinical trials have proven to be the most effective.

The Contribution of Clinical Trials and Studies

clinical trial

Patients diagnosed with rare diseases can often have difficulties seeking the right treatment for their conditions because many gaps in the medical industry have yet to be filled. This means that aside from not being treated, they may also find it hard to access information about their condition or what actions they can take to combat their disease.

Despite this wide gap in accessible healthcare, there are plenty of ongoing initiatives that aim to not only advance the future of medicine but also help the patients diagnosed with rare diseases. For instance, they can become a patient research volunteer for rare diseases so that they can share their personal experiences about living with their health condition.

Their valuable contribution in clinical trials and studies can help the medical community evaluate new approaches to detect, prevent, or treat these rare diseases. As innovative as clinical trials can be, they can only work if there are enough human volunteers to gather relevant data from.

This is why the patients’ inputs are the key that can ignite the development of their treatments. A challenge for those leading clinical trials is recruiting participants, which is why many trials fail to get off the ground. However, by highlighting the importance of the participants’ contributions, more people might be inclined to help advance the future of medicine.

The Aftermath of Medical Research

All treatments and medicines available to the public were once the subjects of a clinical trial. This means that before any medicine reaches a patient in need, it had to go through a series of clinical trials and other processes approved by the U.S. Food and Drug Administration for public consumption. The development of rare disease treatments will likely undergo the same process, which can take years.

However, medical research initiatives that aim to raise awareness about rare diseases can only do so much for those who actually need to be treated. It is up to the policymakers to prioritize this public health concern for the betterment of society.

Continuous innovations and developments today have propelled the medical industry light years away from what people initially thought was impossible. However, despite all those advances, they still have a long way to create an accessible healthcare system catered to rare and non-rare medical conditions. Necessary measures should be taken immediately to ensure that healthcare is adequately given to those who need it.

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