Rare diseases are marked by a broad spectrum of symptoms and signs that vary from disease to disease and even patient to patient suffering from the same disease.
There are over 7,000 rare diseases affecting more than 300 million people worldwide. Many of these diseases are chronic and may be associated with unusual pains.
Patients usually have a diagnostic delay, which can make the condition worse over time and invariably life-threatening. It can take years for rare disease patients to receive an accurate diagnosis.
This is further complicated by the limited treatments available for these diseases. Unlike other medical conditions humans suffer, 95 percent of rare diseases lack a government-approved treatment.
The only hope for most patients is Early Access Care, which provides access to investigational medicinal products when there are no effective alternative therapy options. This provides an early intervention, preventing complications and improving the overall quality of life.
Characteristics of rare diseases
The exact definition of rare disease varies by region; hence, there might be a slight variation in the agreed characteristics. In the United States, it refers to medical conditions affecting fewer than 200,000 people.
Generally, signs of many rare diseases are observed at birth or during childhood. The genesis of approximately 72 percent of rare diseases is traced to genetics. Others are traced to infections and allergies. Meanwhile, in many cases, the exact cause is unknown.
Below are some of the general characteristics of rare diseases:
Diagnosis challenges
Rare diseases cover a wide range of conditions, from genetic disorders to infections and environmental factors. They are complex, often involving multiple genes or environmental factors.
Due to their uncommonness, many health experts are not familiar with their signs and symptoms. This makes diagnosing rare diseases difficult and time-consuming.
A report estimated it takes more than 6 years on average for individuals to get a proper diagnosis.
Limited research
Although researchers in recent years have made considerable progress, due to its rarity, there is usually less interest in investing in research works focused on rare diseases.
Another challenge is the limited knowledge of the natural history or underlying biology of the conditions compared to other common diseases researchers have lots of existing reports to reference.
This in turn results in delayed diagnosis and treatment. However, with government interventions such as the Orphan Drug Act of 1983, which provides incentives to drug companies to develop treatments for rare diseases, there have been improvements in research and treatments.
The U.S. Food and Drug Administration (FDA) since the Act was signed over 40 years ago has approved more than 340 treatments for rare diseases.
Expensive treatments
The delayed diagnosis of rare diseases usually worsens the financial impact on families. The recurring doctor visits, prescriptions, and transportation could have been avoided.
On average, patients shuttle 17 doctor visits before getting an accurate diagnosis. The economic impact of a delayed diagnosis is estimated at $517,000 in avoidable costs per rare disease patient.
How to reduce pain caused by rare diseases
Some rare diseases can cause chronic pain in patients. Due to the delayed diagnosis of these diseases, many pain relief treatments are not usually effective since the underlying conditions are not yet treated.
Below are some rare diseases that can cause pain:
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Paroxysmal extreme pain disorder
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Stiff Person Syndrome (SPS)
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Trigeminal Neuralgia
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Ehlers-Danlos Syndromes
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Tarlov Cysts
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Pudendal Neuralgia
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Familial Mediterranean Fever
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Dercum’s Disease
Pains caused by rare diseases can be reduced or eliminated by lifestyle modification and/or medical treatments.
Regular exercise
Regular exercise has been studied to reduce chronic pain. This made it a viable option for people suffering from rare diseases. Dercum’s disease patients, for instance, can benefit from low-impact exercises such as warm water therapy, which can help reduce pain in affected muscles and joints.
Stress management
Stress management is a set of techniques that can help you better deal with stress and handle difficult situations.
It can help people with rare diseases such as stiff person syndrome (SPS) manage the pain they experience. SPF patients are likely to experience muscle spasms when startled or stressed. Effective stress management can help reduce such occurrences.
Healthy diet
Healthy diets can help the body better manage rare diseases. Pudendal neuralgia patients, for instance, experience chronic pain in the pelvis or genitals due to irritation or damage to the pudendal nerve.
An anti-inflammatory diet rich in fruits, vegetables, and healthy fats can help reduce inflammatory markers in the body and help manage pain.
Adequate sleep
The body has a way of rejuvenating itself during sleep. That is why getting enough sleep is essential for chronic pain management.
People with familial Mediterranean fever (FMF) usually experience poor sleep quality. Therefore, healthy techniques that could promote sound sleep can be beneficial to these patients.
Early Access Program
The use of over-the-counter or prescription pain relievers can help manage chronic pain. However, getting proper treatment for the underlying cause is certain to provide a long-lasting effect on pain reduction.
Early Access Programs (EAPs) provide patients with serious or life-threatening conditions with the opportunity to try out new products or services for treatment before they are widely available.
This can help the patients to get early treatment for their rare diseases, and in return, get rid of or better manage the associated pain of the disease.
