5 Frequently Asked Questions About Rare Disease

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Every four years, leap day is the global Rare Disease Day. This day is to raise awareness of thousands of diseases that affect millions of people worldwide. Although these diseases are unknown to many, they have a huge impact. Learn more about rare diseases below.

What is a Rare Disease?

A rare disease only affects a small percentage of the population. In the US, this is defined as a disease affecting fewer than 200,000 people. In the European Union, diseases affecting 1 in 2,000 are categorized as rare.

Most rare diseases are not diagnosed and tracked, making it difficult to estimate exactly how many rare diseases exist worldwide. Many professionals estimate there are around 7,000 rare diseases and about 25-30 million Americans living with one each year.

How are Rare Diseases Diagnosed?

Monitoring for rare diseases starts with prenatal tests, which are being developed and are becoming available at the best hospitals.

These tests can identify some genetic diseases early on. Newborn screening is also an important detection tool for diseases such as cystic fibrosis and sickle cell disease where early treatment is vital for the well-being of the child.

However, many rare diseases are unidentified or hard to diagnose. It can take years to receive a diagnosis and patients visit sevesal doctors on average before being diagnosed.

The cost of doctors, specialists, and tests can quickly add up during the diagnosis process. There are some patient assistant programs specifically designed for rare disease patients that can ease the financial burden.

Patients are also encouraged to join a support group or advocacy network to help them cope with the emotional impact of a rare disease. These groups can also put patients into contact with specialists around the world who may be able to help with their disease.

What are the Types of Rare Diseases?

There are many different types of rare diseases. About 80% are genetic disorders and present throughout an individual’s life. Some rare genetic diseases are familial, passed down from one person to another. Others, however, arise without a family link. Rare diseases such as Huntington’s disease and muscular dystrophies are genetic.

Other rare diseases include infections, cancers, and autoimmune diseases. Some rare infectious diseases are caused by bacteria, while others are caused by parasites and confined to one area of the world. These include kuru and scarlet fever. Rare cancers include tongue, testicular, and thyroid cancer.

For a full list of information on thousands of rare diseases, visit the database run by the National Organization for Rare Diseases. This charity advocates for patients with rare diseases through policy and research as well as connecting patients in a national network.

Who is Affected?

About half of rare disease patients are children. Many rare diseases, especially genetic ones, cannot be prevented and surface in the first few years of life. It is estimated that rare diseases are responsible for 30% of deaths in children.

Other rare diseases, especially some musculoskeletal and neurological diseases, develop late in life. These include ALS and Paget’s disease. Some diseases have environmental factors, affecting people living or working in dangerous conditions. For example, asbestos inhalation can cause the rare cancer mesothelioma.

How are They Treated?

When a disease does not have a drug to treat it, those drugs are referred to as orphan drugs. There are very few drugs for rare diseases, but there were even less a few decades ago. Acknowledging this, the US passed the Orphan Drug Act in 1983 to incentivize pharmaceutical companies to research drugs for rare diseases.

With the help of the Orphan Drug Act and advocacy groups, there have been many drugs developed. In the past decade, over 230 orphan drugs were approved by the FDA and there are around 560 currently in development. Still, only 5% of rare diseases have an approved treatment.

Sometimes a healthy lifestyle of good nutrition and physical therapy is the only treatment. In the future, however, gene therapies and stem cell therapies could be novel ways to treat these disease.

Precise gene editing tool CRISPR is a good candidate for rare disease treatment, as it is already being used to develop gene therapy for cancer. Personalized medicine may even be around the corner, representing a cure for every rare disease patient.

Conclusion

While the specific diseases may be rare, there are millions of patients affected by rare disease worldwide. Unfortunately, many of them go undiagnosed or suffer from orphan diseases with no known drugs to treat them. Raising awareness of these diseases is the first step to finding cures.

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