Ten percent of the population dies from a rare disease

BySridianti

Life always comes to an end! How one dies depends on many factors. Accidents, disorders, diseases or suicide are some examples. Most people die from cancer or cardiovascular disease. A lesser known group of deaths is due to rare diseases. Despite being rare, it still represents 10% of the total number of deaths per year. What does a rare disease mean and why do relatively many people die from it?

Death rare disease

  • What do such diseases entail?
  • Degree of unfamiliarity
  • Untreatability
  • Relatively high number of deaths
  • Examples of rare diseases

What do such diseases entail?

Not common diseases are classified as rare diseases. It usually concerns a genetic abnormality for which no direct treatment method is available. So there is no medicine and so only the complications are remedied. It is often accompanied by a lot of pain, usually involving children. Because the condition is relatively rare (1:50,000 to 1:100,000 or even less frequent), people will end up in social isolation because there are few fellow sufferers. Because it is often untreatable, people can sometimes die prematurely or at a young age. Of the total number of deaths in our country, ten percent of cases involve a rare disease. What does this disease mean and how is it possible that relatively many people die from it?

Degree of unfamiliarity

If a disease is rare, little is usually known about it. Only the course of the disease can be said about this, while treatment is not provided. It can therefore lead to distressing cases, where only a good quality of life is maintained. This often concerns very young children. Due to the unfamiliarity, the family may feel abandoned or that they have to figure it out themselves. In addition, there is a chance that people will not take themselves seriously by the medical world. This circumstance also leads to further shielding of the sick person, so that fewer people know about it. The combination ensures that others do not find out about it. Because knowledge of diseases and genetic conditions is increasing, the list of rare diseases is also increasing. In other words, the chance also increases that diseases or conditions are considered rare.

Untreatability

Having genetic abnormalities does not always mean that one will become ill. Only certain gene mutations can cause specific conditions or diseases. If it is a genetically determined disease, in many cases there is nothing that can be done about it. The disease will therefore have a progressive course. In other words, the condition of the sick person will increasingly deteriorate, causing the quality of life to decrease over the years.

Relatively high number of deaths

Despite the fact that it is a rare disease, relatively many people die from it. In our country it is estimated that approximately 14,000 (lit.1,2) people die from this, of which 30% before the age of five (approximately 4,000 very young children). Of a total of 140,813 (lit.3) deaths per year, 10% of the cases involve rare diseases. The single disease may be rare, but the cumulative value of all deaths from these diseases is large. Strictly speaking, this share may also increase, because more and more diseases are included. This also means that there are still deaths where an underlying disease has not yet been diagnosed.

Examples of rare diseases

In total, there are approximately 560 known rare diseases in our country, affecting more than half a million people. It is believed that there are approximately 5,000 different uncommon diseases worldwide. Although it is rare, it still occurs frequently. With some diseases one can have a normal life expectancy, while others have very drastic consequences. Consider the following three serious and, for the time being, fatal diseases.

Sanfilippo disease

In the body, cell organelles are active to recycle waste products. A specific waste product is heparan sulphate and is neutralized by lysosomes in the cell organelle. Due to improper functioning of the lysosomes, this waste cannot be processed, causing it to accumulate in the infant’s body. Sanfilippo disease is a lysosomal storage disease. It leads to childhood dementia and death before the age of ten.

Seitelberger syndrome

Due to a gene abnormality (PLA2G6 gene), an enzyme for the maintenance of cell membranes is not produced sufficiently. It directly affects the axon of the nervous system. It causes the brain to become increasingly unable to communicate with body parts, organs and tissues. It is extremely rare and probably only affects 1:1,000,000 people. There is no method of treatment for Seitelberger syndrome. Antiepileptic drugs can reduce the severity of a seizure.

Diffuse intrinsic pontine glioma

DIPG or diffuse intrinsic pontine glioma is a very persistent tumor formation on the brain stem. Radiation and chemotherapy treatment have not given positive results so far. It occurs in approximately fifteen children per year and always leads to premature death. This is because basic functions in the body are quickly affected, causing a variety of physical and neurological problems.

read more

  • What rare diseases are there and what are the consequences?
  • Dying with dignity: euthanasia

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