Childhood illnesses

Rare Diseases in children. Characteristics and symptoms

Rare Diseases in children. Characteristics and symptoms

We are searching data for your request:

Forums and discussions:
Manuals and reference books:
Data from registers:
Wait the end of the search in all databases.
Upon completion, a link will appear to access the found materials.

Rare Diseases are a group of pathologies that affect few people, the majority from birth due to their genetic nature, and are responsible for 35 percent of deaths that occur during the first year of life.

The teacher Maria Teresa Garcia Silva, Coordinator of the Unit of Mitochondrial Diseases and Hereditary Metabolic Diseases, of the Pediatric Unit of Rare Diseases of the Hospital Universitario 12 de Octubre, Madrid, clarifies in this interview with what the characteristics of rare diseases in children, its symptoms and what parents can do.

What are the most relevant characteristics of Rare Diseases in children?
The common characteristic of Rare Diseases is that they are infrequent in the population, that is, the prevalence of each of these diseases in the population is less than 5 per 100,000 inhabitants. They have some characteristics that differentiate them from the rest:

- Its diagnosis is usually complex and it requires highly specialized knowledge and techniques or is particularly complex (sometimes the necessary tests are only performed in very few centers).
- They require highly specialized medical management and require the participation of several specialties and different disciplines
- They are generally serious diseasesChronic and in many cases disabling, they usually require special, complex and prolonged care.

Is it true that there is a delay in the diagnosis ofbetween 5 and 10 years?
Only about 250 diseases are assigned a code in the International Classification of Diseases (ICD) of the World Health Organization, which makes their approach even more difficult. Sometimes they are little-known diseases, but other times they are known, but due to their infrequency, in clinical practice they are not taken into account as a first diagnosis.

As a consequence, if the disease is severe and rapidly evolving without treatment, it can cause the death of a newborn, or sequelae. This occurs with classic Galactosemia, which is not included in neonatal screening in some autonomous communities, its incidence is: 1: 50,000.

The treatment consists of following a special diet, eliminating immediately, and for life, galactose, a component of milk, and food sources of galactose derivatives. With this simple treatment, the disease progresses favorably.

What symptoms can make parents suspect that their child has a Rare Disease?
In general, these should be considered when symptoms or 'symptom association' are not typical of any other disease or there is an unexplained association of symptoms.

In childhood, it should be noted that many inborn errors of metabolism present with digestive and neurological symptoms, either chronically or with acute phases, for which they seek medical advice.

From what age can a Rare Disease be detected?
Symptoms can be present from birth, even in fetal life. But they can appear at any age, especially in the first two years of life. When you think about these diseases and look for them, they can be diagnosed, even in fetal life, although it is more difficult because the studies to carry out in these periods are much more complex.

On the other hand, it is true that, sometimes, the doctor knows that he is seeing a patient with ER (because there are similar undiagnosed family cases, or because there is an examination that suggests it). Generally, researchers and reference centers with experts in RD are used, but even so, an etiological diagnosis may not be reached.

What are the main problems that families of children with a Rare Disease face?
Frustration, anguish, loneliness and a feeling of isolation are very common. But there are also socioeconomic problems, and given the chronicity of the disease and unmet needs: rehabilitation, physiotherapy, special orthopedic measures, special education, speech therapy and many more.

If medical procedures are diversified and a large number of consultations are required, the repercussions on work are very serious. They require not only medical care, but also psychological and social support, and often nutritional measures. The latter are absolutely essential in many inborn errors of metabolism.

Who should parents of children with Rare Diseases turn to?
They should consult with their pediatricians and they will refer suspected children to specialized centers, depending on the symptoms they have.

What are the main novelties in Rare Diseases research?
In recent years, many advances have been made, emphasis is being placed on these diseases, and means are being sought to address them. It is working in many fields simultaneously: medical, social, research and new treatments.

Thanks to improvements in laboratory techniques and better knowledge of each disease, the number of diagnoses has increased. The development of new technologies, particularly tandem mass spectrometry and 'high throughput' platforms for mutation analysis, has made it possible to detect more than 50 different genetic diseases in a single blood sample on newborn paper. born.

It is true that there are two categories of detectable genetic diseases; a relatively small group of them well known and treatable, and a potentially larger group, made up of little-known diseases and some without treatment. But once they are diagnosed, genetic counseling, prenatal diagnosis, and the best possible therapeutic options can be performed.

With all this and scientific advances, progress is being made in the knowledge of diseases, with the aim of finding more effective treatments that, although not curative for certain diseases, do improve the quality of life of those affected.

You can read more articles similar to Rare Diseases in children. Characteristics and symptoms, in the category of Children's Diseases on site.

Video: The Curious Case of my Face: Children living with rapid aging of the skin desease (June 2022).


  1. Faer

    Who knows it.

  2. Ceyx

    You are wrong. I can prove it. Email me at PM, we will talk.

  3. Truett

    i don't know

  4. Majid Al Din

    Suicide is an escape, and escape is for cowards.

Write a message