Bubble boy disease: symptoms, causes, and treatment

Have you ever heard of bubble boy disease? It might sound like a chewing gum brand name if you don't add the word "disease". However, you need to know that this is one of the names of diseases of the immune system and can be life threatening to the sufferer. Check out the following reviews regarding bubble boy disease.

What is Bubble Boy Disease?

This disease actually has the name Severe Combined Immunodeficiency (SCID). It represents a group of rare and fatal birth defects resulting from too weak or insufficient immune system response in the body.

However, this disease is better known as bubble boy disease because it tends to occur in male babies. At birth, the baby must spend his life in germ-free isolation (sterile bubbles).

This disease occurs because the immune system cannot protect the body from viral, bacterial and fungal infections. Without a functional immune system, SCID patients are prone to recurrent infections, such as pneumonia, meningitis, and chickenpox. Patients can die before even one to two years of age if they do not get proper treatment.

The cause of bubble boy disease

The causes of SCID disease depend on different genetic conditions. Here are four causes of SCID, namely:

Reporting from NCBI, half of SCID cases are inherited from the mother's X chromosome. These chromosomes are damaged, preventing the development of T-lymphocytes, which play a role in activating and regulating other cells in the immune system.
A deficiency in the enzyme adenosine deaminase (ADA) causes lymphoid cells not to mature properly, making the immune system less than normal and very weak. This enzyme is needed by the body to get rid of toxins in the body. Without this enzyme, the toxins can spread and kill lymphocytes.
Deficiency of purine nucleoside phosphorylase which is also a result of problems with the ADA enzyme, which is a sign of neurological disorders.
It lacks class II MHC molecules, which are special proteins found on the surface of cells and play an important role in bone marrow transplantation. This causes the immune system to be compromised.

Symptoms of bubble boy disease

Reporting from Medicine Net, usually three-month-old babies tend to experience mouth sores or diaper rash that doesn't go away. It could also be a state of continuing weakness due to chronic diarrhea, so the baby may stop growing and lose weight. Some children develop other serious diseases such as pneumonia, hepatitis, to blood poisoning.

The virus, which is harmless in normal babies, can be very dangerous in babies with SCID. For example a virus Varicella zoster causes chickenpox which can lead to severe infection of the lungs and brain in babies with SCID.

Bubble boy disease treatment

Reporting from WebMD, dr. Ewelina Mamcarz, a chief researcher and a member of the Bone Marrow Transplant Department in St. Petersburg. Jude Children's Research Hospital says that after decades, research is starting to find a cure for this disease. Six of the seven infants treated using gene-based therapy for four to six weeks are now discharged from hospital on an outpatient basis. Only one baby is left awaiting the process of building immunity.

This gene therapy prioritizes healing of the damaged X chromosome. The findings so far suggest that this effect will last a lifetime so that treatment is enough to be done once, not repeatedly. This therapy is done by using the HIV virus that has been modified to carry new genetic material that will change the damaged genetic makeup of the spinal cord.

However, this was not enough. To prepare the spinal cord for genetic changes, the baby is given the chemotherapy drug busulfan beforehand. The administration of chemotherapy drugs is carried out using an infusion device controlled by a computer so that proper dosing is only to prepare for the introduction of genetic changes and nothing more.

Until now, researchers are still monitoring these babies to see if they remain stable and do not experience any side effects from the treatment. Researchers also want to know how the babies' bodies respond to immunization. However, in the findings so far the researchers are quite optimistic that this treatment will provide permanent results.