What Is a Rare Disease? Rare Diseases List

Know what is a rare disease and the list of top 5 rare diseases that people suffer from

In the medical field, where common ailments often take center stage, there exists a category of health conditions that, while lesser-known, significantly impact the lives they touch. According to the World Health Organization, rare diseases affect fewer than 65 individuals per 100,000 population. It is also referred to as ‘orphan diseases’, highlighting the neglect these conditions face in terms of research, drug development, and treatment options. The market's lack of focus on these diseases leaves many patients without the necessary diagnostics and therapies to manage their conditions effectively.

Even though these diseases are rare, they are very important to pay attention to. People with rare diseases and their families have worked hard to make more people aware of these conditions. Let's know about a few rare diseases and their diagnosis.

What Are Rare Diseases?

Rare diseases are often genetic (72% have a genetic origin). Others arise from exposure to infections or toxins, from faulty immune responses, or occasionally from adverse responses to therapeutic interventions for other conditions. For many rare conditions, the causes are elusive. Also, many of these rare diseases tend to appear in childhood. About two-thirds of those with a rare disease are children. What makes this even harder is that most diseases can't be cured. About 7,000 rare diseases are known today, and about 95% of them don't have any treatments, according to the National Organization of Rare Diseases.

Rare Diseases List: Top 5 Rare Diseases

According to Dr. Mayanka Lodha, Redcliffe Labs, here is a list of a few rare diseases:

1. RPI deficiency- Ribose-5-phosphate isomerase (RPI) deficiency is considered the rarest disease in the world. RPI is a crucial enzyme in the human body's metabolic process. This condition can cause muscle stiffness, seizures, and reduced white matter in the brain. The only known case of RPI deficiency was diagnosed in 1984, and there have been no cases since then.

2. Field’s disease- Another rare disease with only two known cases (twin sisters), Field’s disease is a neuromuscular disorder that causes degeneration of muscles and weakening of the body. Medical experts are still researching the condition, and there are chances of more cases cropping up.

3. Hutchinson-Gilford Progeria Syndrome (HGPS) leads to early aging, making very young children appear older and frail. Children as young as two can show signs of aging, such as bulging eyes, wrinkled skin, and hair loss. It's a rare condition, affecting only about 1 in 20 million people. Currently, there's no cure for HGPS, but ongoing medical research aims to find treatments for this syndrome.

4. Methemoglobemin is a form of hemoglobin that makes our blood blue. People suffering from this condition produce excess Methemoglobemin, causing their skin, lips, and nails to turn blue.

5. Aquagenic urticaria- While food allergies are widespread, there are much rarer conditions where individuals are allergic to water. This health issue causes the skin to become red and itchy when exposed to water for too long. People suffering from this condition can also be allergic to snow, sweat, and rain, making this a particularly challenging allergy.