Health and fitness

What is a Rare Disease? What to do When Diagnosed With it?

What is a Rare Disease?


Have you ever been diagnosed with a rare disease or had symptoms that a doctor couldn’t tell which disease it was? This usually happens once in a while and it is usually termed as a diagnosis of a rare disease. This has become a topic of concern for many doctors in the globe because the rate at which people are diagnosed with rare diseases has rapidly increased.

People who suffer from such diseases generally find it hard to find treatment because doctors and specialists cannot diagnose the disease and know which the disease it is. This is because diagnosis takes a lot of time hence the treatment is delayed.

Meaning of a Rare Disease

I know you might be hearing about this term for the first time. Don’t panic it is usually rare to be diagnosed but you can visit a specialist if you have awkward symptoms. A rare disease is also known as the orphan disease is a disease that is diagnosed by a small group of people. For example, in Canada from at least twelve people one has a rare disease. In addition, in Europe out of 2,000 people, one has a rare disease.

Most the people diagnosed with such disorders are usually genetic but some are due to bacterial infections, environmental conditions, or allergies. In most cases, rare diseases usually affect children.

What to do When You Have Unusual Symptoms?


If you or your child ever experience unusual symptoms take a step of first, find doctors and hospitals to know if the symptoms can be diagnosed. If the doctor cannot tell you what you are suffering from then take a step of visiting a specialist and know what you might be suffering from. Many people assume this once the doctor cannot find what they may be suffering from. Or even some just search from the internet and start treating themselves without going to see a doctor.

Please once you have such symptoms it’s advisable you first see a doctor. A rare disease such as Gaucher is brought up by genetic defection. Such a disease affects a small percentage of people globally. However, there are more than forty rare diseases that are known due to genetic defection.

Types of Rare Diseases

There are different types of rare disorders but I am going to inform you of a few rare diseases.

  • Hereditary Angioedema

This is a rare disease that affects one’s immune system. The main symptom of this disease is swelling of body parts such as face, limbs, airways, and abdomen. This disorder is detected in children and becomes severe when the child attains the adolescence stage.

  • Hypophosphatasia

This disease is due to genetic defection and is rare to find people suffering from this disease. However, those diagnosed with such usually have the following signs. Abnormal development of teeth and bones. This disorder also causes skeletal abnormality because it weakens and softens the bones. Currently, there is no cure for this disease but with several attempts soon there might be a cure.

There are many others but the above are some that caught my attention.

Steps You Should Follow During Diagnosis:

depressed woman

You might be afraid of been diagnosed with a rare disease. However, no one ever desires of being suffering from such a disease. So, when you are diagnosed with a rare disease don’t lose faith. There might be a cure for you or a way to leave with the disease. Mostly many people usually wait for between five to thirty years to know what disease they are suffering from. This was known after a survey by Eurodis an organization that deals with rare disorders.

The first thing you should follow during diagnosis is to speak your mind let the doctor know you want to know what is making you sick. Be optimistic, once you take the disease as part of you the disease cannot lead to other diseases due to stress. Tack your progress, many patients always leave their information with the doctor.

Remember it is a rare disease every diagnosis or treatment you should keep a record of each. Look for relevant internet help, you might be frustrated or not know what to do. Don’t go to the internet and search aimlessly. Take your time and find relevant internet help from websites such as the National Organization for Rare Disorders or the Canadian Organization for Rare Disorders.

Don’t be afraid of any support, I know you may be approached by different organizations for help. Don’t fear they may the right people to help you. Many patients have doubt being used as a sample to find the cure of certain disorders.


I know being diagnosed with a rare disease doesn’t affect you alone but your family too. Don’t lose hope because there might be a cure for your disease. So, first visit a doctor for help once you have rare symptoms.