There are a lot of diseases that we know about and try to avoid. However, there are some rare diseases you never knew existed! In this article, we will be discussing five rare diseases that exist. These can be causes of death or something as simple as depression. We’ll also discuss their symptoms and diagnosis. You may not have heard of them before, but they are definitely worth knowing about!
But first, let’s start with a basic definition and understanding of a rare disease.
What Is a Rare Disease?
A rare disease is defined as a medical condition that affects less than 200,000 people in the United States. This could be anything from cancer to heart disease. However, some rare diseases are more obscure and don’t have a common name.
There are over 6,000 known rare diseases and nearly 30 million Americans who are living with one. Unfortunately, most of these diseases don’t have a cure. In fact, many of them don’t even have a diagnosis. However, various patient recruitment programs for rare diseases are doing their best to find treatments and cures for these conditions. Moreover, a few government organizations are trying to increase awareness and support for people living with rare diseases.
Now that you have a general understanding of what a rare disease is let’s look at five rare diseases you never knew existed!
Five Rare Diseases You Never Knew Existed
1. ALS
More commonly known as ALS, Amyotrophic lateral sclerosis is a rare and progressive neurological disease. It affects the nerve cells in the spinal cord and the brain that control the voluntary movement of the muscle. This can lead to muscle weakness, difficulty speaking, swallowing, and breathing.
While the cause of ALS is unknown, it is believed to be caused by a combination of environmental and genetic factors. There is no cure for ALS, and the average life expectancy is two to five years from diagnosis. However, some patients can live for many years after diagnosis with aggressive treatment.
2. Fabry Disease
Fabry disease is a rare and inherited disorder that affects the cells in the body that produce a certain kind of enzyme. This enzyme helps to break down a certain type of fat called globotriaosylceramide. When this enzyme is missing or doesn’t work correctly, it can build up this fat in the body. This can cause various symptoms, including pain, heart problems, stroke, and kidney failure.
There is no cure for Fabry disease, but treatment options are available to help manage the symptoms. These include enzyme replacement therapy and medications.
3. Cystic Fibrosis
Cystic fibrosis is a rare genetic disorder that affects the lungs and digestive system. It causes the body to produce thick, sticky mucus that can clog the lungs and make it difficult to breathe. The mucus can also block the intestines and prevent nutrient absorption.
Cystic fibrosis is caused by a defective gene that affects the production of salt chloride in the body. There is no cure for cystic fibrosis, but treatments are available to help manage the symptoms. The average life expectancy for someone with cystic fibrosis is about 37 years.
4. Ehlers-Danlos Syndrome
Ehlers-Danlos syndrome is a rare disorder that affects the connective tissues in the body. Connective tissues provide support and stability to the skin, bones, and joints. EDS can cause the tissues to be weak and fragile, which can lead to joint pain, stretch marks, and easy bruising.
EDS is caused by a defect in the production of collagen. There is no cure for EDS, but there are treatments available to help manage the symptoms. People with EDS typically have a normal life expectancy.
5. Progeria
Progeria is a rare and fatal genetic disorder that causes the body to age prematurely. Children with progeria typically look like small, elderly adults. They often have thinning hair, wrinkles, and a pale complexion. Progeria is caused by a defect in the DNA that affects the production of an important protein called progerin.
There is no cure for progeria, and the average life expectancy is 13 years from diagnosis. However, a few children with progeria have lived into their twenties and thirties with aggressive treatment.
Rare diseases can be scary and confusing, but it’s important to remember that you are not alone. Many resources are available to help you learn more about your disease and find the best treatment options. You can also connect with other people who are living with the rare disease through online support groups and forums. Don’t let a rare disease stop you from living a full and happy life!
