Many times we read in newspapers or magazines about the sufferings of a person due to a rare health condition. That could create in us a sense of sympathy towards the suffering one, but not until a loved one or we ourselves are diagnosed with one such condition do we understand what it means to be in such a situation. Rare diseases, often referred to as orphan diseases, is a condition that affects fewer than 200,000 people (Orphan Drug Act of 1983). Drug companies did not show an interest to study these diseases to find treatments and hence they were referred to as orphan diseases. What we need to understand is that the rare diseases affect only a few percent of the total population and unless the government provides enough financial support for developing treatments and selling it there is little hope for the ones suffering.

Causes for a rare disease

Though there could be several different causes for a rare disease, most of them are caused by a genetic disorder that happens due to changes in chromosomes or genes and they are chronic. Most of these genetic disorders are present throughout your life even though the symptoms start to show during the later stages. Some of the diseases do appear in the early stages of life too. In certain cases, the genetic conditions are passed on from generation to generation.

Some of these diseases could be due to infections and allergies. Several diseases that are considered to be rare like certain autoimmune diseases, some rare types of cancers, and certain infections has nothing to do with genetics and are not inherited. Exposure to toxic substances whether they are natural or manufactured including the ones that are product contaminants could result in rare conditions or diseases. Some of them are the result of side effects from the treatment of other diseases. However, the exact causes of these diseases remain unknown and researches and studies are being carried out every year to find out the correct reasons.

How can you prevent, diagnose, and treat such conditions?

Methods for primary prevention

The primary prevention methods aim to reduce and remove risk factors that could result in a disease and are usually carried out through immunizations and taking basic measures of sanitation. Women of child bearing age are given folic acid supplements to reduce birth defects in children. Certain screening and counselling programmes have been developed to advice people with a genetic condition to minimise the risk that the future generation is likely to face.

Methods for secondary prevention

Secondary prevention involves testing and screening to identify a certain condition so that the patient can be treated effectively before the onset of different symptoms and complications. New born screening programmes have also been developed to find out the presence of certain conditions early on and to start treating it immediately.

Methods for tertiary prevention

In the tertiary prevention the evident symptoms and disease is treated to avoid it from progressing and to restore one’s function and health.

Diagnosis of rare conditions

Diagnosis of rare conditions depends on the medical professional’s ability to understand the patient’s symptoms and certain clues that point out to a specific condition and his skill, knowledge and expertise in evaluation. This requires patience from the part of the patients and the doctors. Clinical practices like taking the history of patients, physical examination, blood tests and other tests in the laboratory are done during the initial stages of diagnosis. Genetic testing and scans including MRI could be suggested in the later stages. XpertDox uses the latest technology and experts in the specific area to make quick and correct diagnosis.

Treatment methods

The treatment method varies depending on each individual case and while certain treatments address a single condition some focuses on a set of related problems. There are mainly three types of treatment methods


Though curative treatment methods for rare diseases are quite hard to find some of these conditions can be fixed through surgeries, organ transplantation, stem cells transplantation or bone marrow transplantation.

Treatment for modifying the disease

The progression of a disease is prevented by targeting its underlying pathology.

Therapies that are symptomatic and functional

Many of the rare chronic conditions require a symptomatic treatment and steps to prevent related and other diseases.

Different approaches need to be taken to prevent a rare disease. The strategies to prevent some of these diseases are quite simple and effective whereas certain preventive methods require a good amount of effort, time, and patience.