Just a few decades ago, some diseases were unexplainable. Doctors’ responses were limited, and diagnoses ended up with supernatural or superstitious explanations. These unexplainable diseases are now known as rare, orphan or forgotten diseases and thanks to science and to the research and development industry, they are no longer an inexplicable phenomenon but have a name, an explanation, a treatment and even a cure.
All humans are carriers of at least eight genetic diseases or enigmatic conditions (mutations), which present no symptoms or signs. However, when two people carry the same genetic disease, their children may inherit this mutation and develop the disease.
Indeed, these diseases will affect the health, have a unique pattern of symptoms and a single treatment. Usually these types of conditions are chronic and progressive, that is to say that they are of long duration and slow progression, and the first signs may be seen at birth or childhood.
Moreover, they affect a small number of people. In Europe, in order to be considered as “orphan”, these diseases shall affect 1 out of 2,000 people. In other countries, it is 1 out of 5,000 people.
To date, science has discovered 7,000 orphan diseases, but there are still hidden diseases, patients who do not know they have them, and pending diagnoses. In fact, about 8 percent of the population suffers from these diseases.
What are the orphan diseases?
80 percent of these diseases are of genetic origin and to a lesser extent immune, neoplastic (abnormal cell growth) or infectious diseases. Neurological disorders (such as multiple sclerosis), clotting problems (such as hemophilia) and lung conditions (such as cystic fibrosis) are some of the most common orphan diseases.
Some examples of orphan diseases include:
It is a genetic disorder in which tumors form in any nerve tissue, such as the brain, spinal cord, or nerves. This disease can lead to hearing loss, learning disabilities, heart problems, vision loss and severe pain. There is a treatment for this disease, which consists in stimulating a healthy growth in children and in controlling the tumors through surgery.
● Osteogenesis Imperfecta
It is a genetic disorder in which bones break easily, even for no apparent reason. It can cause muscles weakness, brittle teeth, a deviation of the spine, and hearing loss. Because of one or more gene, which don’t work well, the disease causes the body to not produce collagen, a protein that helps strengthen bones. Although there is no cure, the symptoms can be controlled. Treatments include exercise, painkillers, physical therapy, wheelchairs, dental appliances and surgery.
● Rett Syndrome
It is a genetic disease, which causes developmental delays and nervous system problems, mostly in women. At first, babies with Rett syndrome seem to grow and develop normally, but between three months and three years of age they stop developing or lose some skills. There is no cure for Rett syndrome, but it can be treated with medicine, surgery, and physical or speech therapy.
● Huntington’s disease
It is an inherited disease, which causes the breakdown of some nerve cells in the brain. People are born with the defective gene. However, symptoms usually appear after the age of 30 or 40. Symptoms may include uncontrolled movements, clumsiness, and balance problems. With a blood test, you can see if you have the disease gene and if you will develop it. There is no cure, but there are medicines that help control the symptoms.
The role of science
Until recently, there was no far-reaching research or public health policy for this type of diseases. Significant progress in research has been made and science can provide answers even for diseases that are not yet documented.
According to medical geneticist Fernando Suárez, it is important to detect these diseases in an early stage, since they are usually diagnosed between 9 and 15 years of age. This happens because doctors do not know the main symptoms of a rare disease.
He also explains that, for these cases, pharmacological treatments used to be scarce. Nevertheless, this has changed in recent years, since now “most are treated with drugs and therapeutic interventions, but it is important to diagnose them for a better application.”
On the other hand, diseases must be reported to the public health systems so that they can be addressed by professionals, and so that research can be promoted in the future. The more exchange of information between scientists there are, the better documented these diseases will be.
Nonetheless, as there are orphan diseases, there are also orphan drug, which are specifically designed for these conditions. It should not be forgotten that adequate treatment can allow a better quality of life and extend the life expectancy of those who suffer from them.
Thanks to the pharmaceutical industry, there are specific medicines to treat these diseases, or in other words, that serves 1 out of 5,000 people. These drugs respond to public health needs, as they contribute to a common good despite the few people who suffer from these conditions.
Patients’ caregivers have also an important role to play in fostering innovation and development regarding these diseases. According to a New York Times article, families are looking for different ways to speed up cures or therapies by having close conversations with scientists and the pharmaceutical industry. Caregivers can gather detailed symptom information to support this scientific work.
With a population of 6 billion people worldwide and genetic mixtures that cross borders, orphan diseases are inevitable. However, with the support of science, new medicine and treatments, the quality of life and life expectancy of these patients will only tend to increase over time.