Understanding Rare Diseases and Their Challenges

What if your condition was so rare, most doctors hadn’t seen it before? Rare diseases affect millions of people but its diagnosis, research and treatment remain limited, leaving patients and families unattended.

Sometimes these diseases become complex due to a consistently delayed diagnosis, treatment gaps and limited financial resources.

Let’s understand the rare diseases and their challenges in detail.

One of the most common and challenging procedures that I experience as a psychologist in Multan daily is psychological issues. 

However, millions of people dealing with rare diseases and their families are also affected by them. We are aiming to find out what rare diseases are.  

Their actual cause and how these diseases create hurdles for the patients to live in society. If we overcome the challenges that we have to face then we can save the lives of many people.

What Are Rare Diseases?

Rare diseases are disorders that cause little spread within a specific proportion of people. There are 7,000 identified rare diseases. Each disease can affect a small percentage of people all over the world.  

For example Huntington’s disease, Duchenne muscular dystrophy, and Gaucher disease. These are complex and chronic conditions with which people are dealing. 

Due to less available data on rare diseases we can not help patients who are facing these diseases. Most of these are genetic and are often at birth or during childhood.

The Emotional and Social Burden

We also understand that we are not only affected by this rare condition but it affects the whole family which can cause an emotional breakdown. 

For example, those families who lose hope and can not move on because there is no one who supports them in this challenging journey. So we have to pay attention to their emotional well-being.

However in common disease,s many supporting materials are available but in the cause of rare diseases, we are facing a shortage of resources such as support systems, educational materials, and even social understanding. 

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Challenges in Managing Rare Diseases

Some of the challenges that we have to face while dealing with these rare diseases are as follows:

• Delayed diagnosis: Due to lack of awareness can cause complex issues. Some rare diseases can not be diagnosed accurately due to which they are classified as experimental options for treatment.

• Limited treatment options: Some people live in areas with fewer resources and they do not have access to specialized medical care. Even having less financial support.

• High cost: These diseases are rare and can charge high for care and medication.

Many of us, as patients and their families, are feeling difficulty to travel long distances or seek treatment out of the country which can not be afforded by every patient.

Governments and organizations worldwide promote Rare Disease Day (last day of February) to raise the awareness about these rare diseases and can improve research, diagnosis and support.

Difficulty in Diagnosis

One of the biggest challenges while dealing with rare diseases is the difficulty in diagnosis. People can not identify its symptoms because it can lead to other known conditions or diseases.

As a result of which we misdiagnose these conditions. If we want to identify these rare disorders, then we need to know about previous diagnoses and treatments.

Some patients can face these conditions for a long period of time. They can not identify an accurate diagnosis even in their last span of life.  

Lack of Public Awareness

People can not have awareness of this disease, so we can not get any social support. If you want to help these patients then you have to raise awareness towards these conditions. 

For example a Hospital in Pakistan that focused on these complexities. They train their staff to deal with patients who are faced with rare diseases. They also give awareness to their patients about their conditions.

The Role of Research and Innovation

Recent studies based on gene discover have identified alternative treatments. If we combine innovative testing with clinical trials then we can help a lot of patients who are affected with rare diseases.

Therefore ,some critical diseases have less awareness due to which these can spread easily.

Despite having minimal research on rare diseases, they tend to receive maximum benefits if they can be studied thoroughly by medical experts.

Final Thoughts

The difficulties associated with rare diseases is that they are considered uncommon. However, its effects from delays in diagnosis, emotional distress, finances and access to adequate healthcare.

If we pay attention and do more research and holistic policies that encompass every aspect of healthcare can minimize its impact.

This proactive collaboration makes sure that individuals diagnosed with rare diseases do not feel alone. 
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