Bubble Children: what disease do they suffer from and how does it affect them?

In 1976, the film "The Boy in the Plastic Bubble" was released worldwide., a film starring John Travolta that tells the story of a boy who is born without immune defenses. This deficiency forces her to live his life in strict isolation, within a completely germ-free environment.

Although the plot of this film may seem pure science fiction, the truth is that it is based on the true story of David Vetter, a boy who came to spend twelve long years inside an isolation chamber until he finally passed away. Vetter was born on September 21, 1971 in Houston, United States. His brief and particular life was told in films and documentaries, since his case was not without controversy and dilemmas at a medical, ethical and psychological level. Although doctors tried to treat the disease with a bone marrow transplant using his sister Katherine as a donor, it was not successful. Seven months after starting said treatment, he passed away.

As we see, The so-called bubble children are not an urban legend, they really exist. The explanation for his peculiar situation is found in a diagnosis: severe combined immunodeficiency (SCID)

. This pathology is popularly known as bubble boy syndrome, since patients who suffer from it they have a defense deficit that makes them extremely vulnerable when dealing with infections common. This lack of a normal immune system is a serious health problem that is life-threatening from the start. In this article we will talk in detail about bubble children, the disease they suffer from and how this condition affects them.

• We recommend you read: "Batten disease: symptoms, causes and treatment"

Severe Combined Immunodeficiency: The Pathology Behind Bubble Boys

As we already anticipated a moment ago, bubble boy syndrome is the popular name given to the problem of severe combined immunodeficiency. To understand exactly how this disease occurs, it is important to first understand how the immune system develops in childhood.

When a baby is born, her immune system begins to take shape from the bone marrow. The so-called stem cells can become different types of blood cells, such as red blood cells, white blood cells or platelets. In particular, white blood cells are those that help protect our body from different harmful agents. These can be of various types, highlighting B and T lymphocytes. The first are those that manage to detect and attack the invaders.

Instead, the latter try to remember those previous infections in order to prepare the body if there were to be a new exposure to them in the future. Severe combined immunodeficiency is so called because it affects both types of lymphocytes.. This means that the child has an insufficient number of them or that the lymphocytes do not fulfill their role correctly.

If a child lacks an effective immune system, her body becomes unprotected against viruses, bacteria, fungi... that endanger her health. That is why, when there are suspicions that a child suffers from this disease, preventive measures are immediately taken that try to reduce their risk of getting sick.

This involves interrupting visits from other people (especially those who are sick), avoiding places public spaces and take intensive care of hygiene measures, such as hand washing frequent. Severe combined immunodeficiency is considered a rare and infrequent disease.. Generally, this begins by manifesting itself through signs such as the following:

• The little one suffers recurrent infections in the ear and respiratory system.
• The buccal mucosa usually presents recurring fungi and canker sores.
• At the digestive level, chronic diarrhea is common.
• Regarding growth, the child fails to reach the expected goals of weight and height according to her age.

Causes of Severe Combined Immunodeficiency

As we already discussed, bubble children disorder is caused by problems in the functioning of B and T lymphocytes. As a general rule, severe combined immunodeficiency is caused by an autosomal recessive pattern of inheritance, in which the genes of the mother and father have defects.

Sometimes the genetic alteration is linked specifically to the X chromosome. In these cases, only boys develop the disease, since girls can compensate for the defect in him if the other X chromosome is normal. In other words, they would have to manifest mutations on both of their X chromosomes in order to have problems with the functioning of their immune system.

As it is a hereditary disease, it is difficult to prevent it. In any case, parents can count on counseling and genetic tests that allow them to know their situation and make decisions accordingly.

What should be done when a child suffers from Severe Combined Immunodeficiency?

Without adequate intervention, the life expectancy of a child with this disease is very short. Any common infection that is not relevant to the general population can become life threatening if the immune system is not working properly. That is why early detection of the pathology makes things much easier.

The disease can be detected through a simple blood test. Generally, once the existence of the condition is confirmed, the patient is seen by a professional specialized in immunodeficiencies. He or she may order additional genetic testing. In those children who have relatives with the disease, it is feasible to do tests during pregnancy to ensure if they suffer from it or not. Knowing this information before birth makes it easier for families and professionals to be prepared.

Generally, treatment is usually based on bone marrow transplantation as early as possible. To this is added an intensive treatment that allows to fight infections effectively. Marrow transplantation usually provides satisfactory results with compatible or half-compatible donors. Ideally, the siblings should be the ones to offer their donation, although if this is not feasible, an attempt can be made to resort to the marrow of the parents or a donor from outside the family.

The earlier these procedures are, the higher the success rate tends to be.. In addition to these interventions, it is necessary that the adults in the environment adopt a series of precautions:

• Encourage isolation as much as possible to avoid contracting infections.
• Vaccines containing live viruses may not be applied, even in weakened forms, neither to the patient himself nor to his cohabitants. Among them are those indicated for chickenpox, litter bins or triple viral (measles, mumps, and rubella).
• If they require a blood transfusion, this can only be carried out with treated blood to avoid complications.
• Breastfeeding will not be given without first ensuring that the mother's milk does not contain viruses.

Gene therapy: a new horizon in the treatment of severe combined immunodeficiency

Bone marrow transplantation has saved the lives of many children with this disease, but it is not without its risks and drawbacks. Generally, there is a considerable risk that the patient will reject someone else's cells. Finding compatible donors is not an easy task and this can make the whole process complex.

In recent years, a new treatment has been implemented that allows avoiding the problems associated with bone marrow transplantation.. This is known as gene therapy and has shown more than positive results. Gene therapy began to be implemented in the United Kingdom and the United States. This consists of extracting stem cells from the child himself in order to add the precise genetic material to them in the laboratory so that they can function correctly. By returning these modified cells to the body, they can correctly fulfill their role in fighting infections.

conclusions

In this article we have talked about the phenomenon of bubble children. The little ones popularly known by this term suffer from a disease known as Immunodeficiency. Severe Combined, which prevents them from having an effective immune system when it comes to fighting agents infectious. In this way, viruses, bacteria and fungi become a threat to the lives of these children, who need early treatment in order to survive.

The concept of bubble boy was used for the first time to refer to the case of David Vetter, a boy who spent the twelve years that he spent his life isolated in a bubble so as not to get sick. Vetter had SCID, but an attempt to treat his disease with a bone marrow transplant from his sister failed and he died.

Far from being a matter of science fiction, bubble children really exist. This disease that we have been talking about is rare and infrequent, but when it happens it can be fatal. Therefore, early detection and treatment of it are very important. Being an inherited pathology rooted in genetic mutations, preventing it is complicated. However, parents can do genetic studies to find out the risk of their baby suffering from it, especially when someone in the family has this diagnosis.