4 Rare Diseases That Can Occur In Children
We all hear about rare diseases in children from time to time in the media, but what are they really? How are they produced? What are some of them? The answer to all these doubts can be somewhat complex, but in the following lines you will find basic information about these pathologies.
Most of them appear from birth and can be due to genetic factors or problems in pregnancy. Treatment is often somewhat complex, which lowers the quality of life for children and their families. Fortunately, there are multiple associations worldwide that seek to give visibility and support to these cases.
Congenital or acquired diseases?
To understand what rare diseases are and how they occur in children, it is important to understand the difference between congenital and acquired problems.
The former are present from the moment of birth, although they have not been diagnosed at that stage, while the latter are a consequence of some triggering factor at any stage of life. As you will see, rare diseases are usually congenital.
On many occasions they are the consequence of genetic problems, as occurs in mutations or inheriting defective genes, but they are also influenced by the use of substances during pregnancy (medications, drugs or tobacco) and, of course, by unknown factors.
4 rare diseases in the smallest
Next, we will comment on some of the most representative conditions of this group. Many of them are associated with malformations or other health problems, so it is common for treatment to require a multidisciplinary approach, that is, the participation of several specialists.
1. Cystic fibrosis
According to a publication of the Spanish Association of Pediatrics, cystic fibrosis has an incidence of 1 case in every 1000 – 8000 live births, which makes it one of the most frequent rare diseases. It is produced by genetic defects and is capable of producing considerable problems in the quality of life.
From a clinical point of view, it affects several organs, especially the lungs and the gastrointestinal system. It is characterized by poor management of secretions (such as mucus), which favors the appearance of infections caused by microorganisms that do not usually respond very well to conventional treatments.
2. Moebius syndrome, one of the rare diseases in children
This rare disease is characterized by neurological problems. The nerves responsible for “activating” the facial muscles and facilitating some eye movements are not functional, so children have considerable facial paralysis that, initially, may not be diagnosed at birth.
There are also other associated health problems, such as congenital malformations, swallowing defects (that is, swallowing food) and even poor development of some teeth, such as the jaws.
3. Gilles de la Tourette syndrome
This disease is more common in boys than in girls and its symptoms appear at any stage of childhood and generally decrease in intensity until adulthood. The main symptom is the appearance of frequent tics that involve different parts of the body: blinking, hand movements or even coughing.
According to a Mayo Clinic publication, this rare disease can be complicated by some neuropsychiatric disorders. Among them are obsessive-compulsive disorder (OCD) or autism spectrum disorder (ASD). So far there is no cure, although doctors usually prescribe antipsychotic drugs to control the disease.
4. Dandy-Walker syndrome
The human brain contains within it a substance called cerebrospinal fluid (CSF), which runs through multiple structures. Dandy-Walker syndrome is a congenital problem characterized by malformations in these structures, for which the free circulation of CSF is compromised.
One of the most direct consequences of this problem is the pathological enlargement of the head of babies, a condition called congenital hydrocephalus. So far there is no cure and treatment is based on neurosurgery, drugs and mental therapy, especially in children with cognitive problems or mental retardation.
The importance of knowing about rare diseases
Although it is very unlikely to meet a child with these conditions, the truth is that there are thousands of family histories in which one must live day to day with this diagnosis. It is not easy at all, not only because of the prognosis and the difficulties of treatment, but also because of the associated social stigma.
The knowledge of these diseases by the general population makes it possible to raise awareness about an ignored problem, but no less important for that.
There are hundreds of organizations (many of them run by parents) dedicated to offering help to these patients and a great way to contribute a grain of sand is to spend some time getting to know these conditions thoroughly.
