Challenges and Treatment of Rare Diseases

People rarely mention rare diseases unless they’re directly affected by them. These ailments are quite annoying, especially given that it takes so much time to diagnose them. Patients will be treated for all sorts of conditions until they finally discover the real issue.

To make matters worse, some doctors have little to no experience treating these diseases. Not only will this affect the speed at which they diagnose the problem, but also treatment efficiency. While waiting for all that to happen, the patient will have trouble going to work and performing their daily routine.

In this article, we’ll explain the concepts and challenges that come with rare diseases. We’ll also go through potential treatments for some of these conditions.

Rare Disease Basics

Rare diseases are often referred to as orphan diseases, and they affect a very small number of patients across the general population. “Due to their rarity, people don’t have many treatment options,” according to Early Access Care, a reputable medical service provider from Madison, Connecticut.

The company highlights the burden patients and families have to carry while diagnosing and treating these ailments. Besides having to deal with painful, complex symptoms, people also suffer mentally and socially. Patients with rare diseases often become recluses, which affects their quality of life.

Given that a small percentage of the population struggles with these conditions, patients have no one to turn to. There isn’t a support system as with other diseases, leading to further frustration. Despite the challenges, many individuals show enormous resilience in the face of adversity.

Rare Disease Challenges

Due to their nature, rare diseases carry various treatment and societal challenges. Among others, here are the biggest issues people have to deal with:

Lack of Treatments

The biggest issue with rare diseases is the lack of treatments. Even doctors know little about these conditions, and people have to travel long distances to find specialists who can help them out. Some individuals move to other countries and states so they get increased access.

To make matters worse, there aren’t viable drugs or procedures for many of these conditions. Lacking options, individuals often turn to experimental medicines, also referred to as orphan drugs. Some of these substances cause adverse reactions, furthering the patient’s misery.

Diagnostic Issues

When examining a patient, doctors rarely hit their mark on the first try. They usually recommend drugs or treatments for other conditions and bang their head against the wall for several months and even years. Upon noticing that the person isn’t making any progress, they might consider a rare condition.

Missed diagnosis prolongs patients’ suffering. The condition might turn from acute to chronic, increasing the desperation. By the time the doctor gets it right, the affected organs might have suffered enormous, irreparable damage.

Mental Impact

It isn’t uncommon for patients with rare diseases to suffer from anxiety and depression. Many of them develop secondary conditions as a result of prolonged stress. As mentioned, this usually affects the social and love life of the patient. By the time they resolve their problem (if they ever resolve it), patients are usually the shadow of their former selves.

Financial Impact

Expensive disease management will put a strain on the family’s budget. We also need to consider long-distance travel to reach the medical experts who can help. Due to the rarity of diseases, medical costs are generally much higher, and many people have to get loans to pay them off.

Lack of Awareness

As it goes with all medical conditions, people are afraid of that which they don’t understand. Patients suffering from these issues are stigmatized by society, and people often behave as if they were contagious.

To address these issues, governments should raise awareness for rare diseases. They should especially educate the doctors and provide them with resources to assist them in tackling these problems. Governments should consider the discrimination and launch wide-scale campaigns against it.

Research Issues

Alas, the fact that a small number of people are affected by these conditions makes it harder to perform comprehensive research. Many individuals are unwilling to take experimental drugs, which is why things often come to a standstill. Given that a small number of patients would benefit from treatment, there’s a lack of willingness to invest in research.

The Role of Orphan Drugs

The potential solution for rare diseases comes in the form of orphan drugs. These medicines are specifically developed to treat these conditions and are usually produced in small batches (which is why orphan drugs).

Orphan drugs fulfill a vital therapeutic role by assisting this segment of the population. A single substance is usually the only solution patients have at their disposal, increasing their novelty. Despite having limited commercial potential, these products have changed many people’s lives.

Another major benefit of orphan drugs is that they might be used as a blueprint for other medicines. Pharmaceutical companies might utilize successful substances to develop other solutions for similar conditions. This increases their commercial feasibility and makes investment in orphan drug R&D more sensible.

Orphan Drug Regulation

Given their specific nature, governments of the world have enacted unique laws that would help the approval of orphan drugs. The main point of this legal framework is to streamline the development of medical products which are otherwise hard to research and expensive to produce.

Let’s take, for example, the United States. As with other medical products, the FDA has the full authority over orphan drug approval. The organization provides incentives for manufacturers that would make research more feasible. On top of that, the FDA uses a faster review process for these medicines to put them on the market faster.

The EU also has favorable laws for orphan drugs. The EMA (European Medicines Agency) oversees the introduction of new orphan drugs to European consumers. To increase their availability, the agency guides manufacturers streamlines standard protocols, and uses lower fees.

Last Thoughts

Despite all the obstacles, each year, we have new solutions for rare diseases. Companies have developed various treatments and orphan drugs that would help address these problems. Personalized drugs and care, gene therapy, and precision medicine are just a few things that might assist patients on their way to recovery.

The good news is that public health institutions are willing to invest in rare disease R&D. Still, there are numerous issues we still need to address in the upcoming years. Society as a whole needs to come together to assist less fortunate people living with these ailments.