The "Bubble Boy disease," which has recently come to the public's attention through a TV series, has almost become a national topic in Turkey. This disease, which everyone is talking about on social media, causes infants to die shortly after birth. Bubble Boy disease (Primary Immunodeficiency) is known as a rare disease worldwide. However, the incidence of this disease in Turkey is much higher compared to other countries. Prof. Dr. Barış Malbora drew attention to the Bubble Boy disease and made important warnings.
The Bubble Boy disease (Primary Immunodeficiency) has been one of the most talked-about topics on social media recently. This disease, which impairs the development and function of the immune system that protects the body against germs, causing the body to lose its resistance, leads to the death of infants shortly after birth. Pediatric Hematology and Oncology Specialist Prof. Dr. Barış Malbora explained all the details about the Bubble Boy disease to Posta.com.tr readers.
THE CAUSE OF BUBBLE BOY DISEASE: GENETIC PREDISPOSITION!
Bubble Boy disease is a term used for children with congenital severe immune deficiency (severe combined immunodeficiency). Studies in Europe and America have shown that consanguineous marriage is the cause in half of these cases. Prof. Dr. Barış Malbora stated that Bubble Boy disease is caused by genetic predisposition.
"Bubble Boy disease, or Primary Immunodeficiency, is a congenital immune deficiency disease. The basis of this disease is the single or combined deficiency of cells called T and B lymphocytes, a subtype of white blood cells (leukocytes) that fight microorganisms in our body. Depending on the severity of these cell deficiencies, patients face a serious risk of infection. Genetic predisposition is required for the disease to occur. Therefore, the disease is more common in countries with a high rate of consanguineous marriage, such as ours."
THE DISEASE GETS ITS NAME FROM A MOVIE
This disease, actually named "Primary Immunodeficiency," is popularly known as "Bubble Boy disease." Prof. Dr. Barış Malbora explains the reason for the name "Bubble Boy disease" as follows:
"The disease gets its name from the 2001 American film 'Bubble Boy.' The film tells the story of a child who lives his life in an isolated bubble to show, in an exaggerated way, how these patients can be protected from infection. While a lifestyle as exaggerated as in the movie is not necessary, our patients must be protected from all kinds of infections. This is because patients are susceptible to getting any infection through respiratory, oral, or contact routes. Today, there are over 400 types of congenital immune deficiency (Primary immunodeficiency) diseases. We now have the chance to diagnose almost all of these diseases with genetic analysis."
SYMPTOMS VARY DEPENDING ON THE SEVERITY OF THE DISEASE
The symptoms of the congenital Bubble Boy disease vary depending on the severity of the disease. Prof. Dr. Malbora says that because the disease has a genetic basis, there may be family members who have died from a similar disease, especially in families with consanguineous marriages.
"Depending on the severity of the disease, most infants have a fever due to frequent infections. They may need to be hospitalized for severe lung, intestinal, urinary tract, and blood infections. Recurrent lung infections (pneumonia), non-healing wounds, and warts may appear on the body.
Prof. Dr. Malbora also stated that in some types of the disease, there may be enlarged liver, spleen, and lymph nodes. "There may be a decrease in blood cells to varying degrees. This can appear as anemia or a tendency to bleed (thrombocytopenia). Sometimes, these patients may also have rheumatic diseases. Some types are even prone to cancers like lymphoma. Since the disease has a genetic basis, there may be individuals who had a similar illness and died in families with consanguineous marriage."
THIS DISEASE IS NOT CONTAGIOUS!
Since Bubble Boy disease, or primary immunodeficiency, is a congenital, serious immune disease, Prof. Dr. Malbora underlined that Bubble Boy patients must be protected from infection.
"The disease is never contagious. On the contrary, these patients can catch infectious diseases from other healthy people. In other words, patients cannot harm others, but we healthy people can transmit germs to these patients. This is actually the starting point of the 'Bubble Boy' story: to protect the patient from us."
BONE MARROW TRANSPLANTATION IS ESSENTIAL
It is necessary to closely monitor the Bubble Boy disease. Prof. Dr. Malbora says that a bone marrow transplant is essential for the complete elimination of the Bubble Boy disease.
"These patients must be closely monitored by immunologists. Many of them need to take various antibiotics and drugs called immunoglobulins to protect themselves from infection. A bone marrow transplant is essential for the disease to be completely eliminated. We have had the chance to restore the health of many of our patients with this disease by performing bone marrow transplants."
BUBBLE BOY DISEASE IS MORE COMMON IN TURKEY THAN IN OTHER COUNTRIES
Although Bubble Boy disease is among the rare diseases, it can be very common in countries with a high rate of consanguineous marriage. It is estimated that the disease is more common in our country due to the high rate of consanguineous marriage. For example, the incidence of 'severe combined immunodeficiency,' which starts immediately after birth and leads to severe infections, is stated to be one in 70,000-100,000 in the USA and one in 50,000-100,000 in Europe. In Turkey, the rate of consanguineous marriage in families where this disease is seen is 86%. This means that cases where consanguineous marriage did not play a role are found in only 16% of cases in our country. Prof. Dr. Barış Malbora explains the Bubble Boy disease seen in Turkey as follows:
"While it is seen in one out of 10,000 live births in developed countries, this rate is much higher in countries where consanguineous marriage is frequent, as in our country."
THE STORY OF BUBBLE BOY DAVID, WHO BECAME A GLOBAL TOPIC
One of the most powerful examples of Bubble Boy disease is the story of David Vetter, who was born in America. David Vetter was born with a severe combined immunodeficiency disease that very quickly collapsed his immune system.
Experts designed a bubble to keep him alive and try to find a treatment method. For many years, everyone knew David as "David the Bubble Boy." The purpose of this was to protect the Vetter family from social exclusion. From the day he was born, David started living in a sterile bubble. Everything he needed, such as water, air, clothes, food, toys, etc., was sterilized and placed in the bubble. When David turned 12, he was still living in this bubble, but doctors had not developed any treatment methods over the years. The doctors finally decided to transplant bone marrow from his sister, Katherine, to David. However, even though the operation was successful, David got sick for the first time two days later. He was taken out of all his protections for the first time so that he could be treated. Even NASA designed a special suit for David. He was taken out of his living space with a protected suit, while only his head was inside a bubble. However, David lived for only 7 days after being removed from his protections. He died on February 22, 1984, before he even turned 13.
Source: Posta