When it comes to "Bubble Boy", what is the first thing that comes to mind?
Bubble-blowing boy? Or is it boys playing in "water walking balls"? Or is it david philip vettel today, our "protagonist"?
The "bubbles" we usually see are very fragile, and they will burst with a poke. David's "Bubble" is his guardian, protecting him for 12 years.
<h1 class="pgc-h-arrow-right" data-track="4" > Bubble Boy: Touched mom for the first time before death</h1>
David was born in the United States in 1971. Immediately after landing on the ground, David was sent into a sterile bubble because he suffered from severe combined immunodeficiency (SCID).
Doctors said they could try to give David a bone marrow transplant using the hematopoietic stem cells of David's sister Catherine. However, the results did not go as expected, and Catherine and David's matching was unsuccessful.
So David could only continue to stay in the sterile bubble, although lonely, but it was the best choice for him. To make up for David, David's parents prepared him a whole bunch of toys and snacks.
However, before toys and snacks are put into sterile bubbles, a sterilization process is carried out, and then the toxic ethylene oxide is removed, which is a cumbersome and complicated step.
David's plight was quickly reported by the media, and he received help from institutions such as NASA designing a new home for him that could reach through the bubbles through rubber gloves. At the same time, David's life was completely exposed to the public eye. Some people cast sympathetic glances at him, and some people were yin and yang.
Young David didn't know what it all meant to him. As time passed, David grew older, and he began to realize that he was different.
At the age of 3, David was finally able to leave the hospital and return home to live, albeit in a sterile room. At the age of 6, NASA made a special set of spacesuits for David.
Wearing a spacesuit, David can play with his sister with water guns on the lawn of the yard. However, putting on this spacesuit is not easy. After wearing it a few times, David completely lost interest in it, and his eyes began to show sorrow that did not match his peers.
Shortly after David's 12th birthday, doctors told David's parents that they had developed a bone marrow transplant technique that didn't require matching. David's parents were so excited that they waited too long for the day.
The operation was a success, and everyone thought David had a new life. Unexpectedly, an accident occurred: four months after completing the bone marrow transplant, David developed lymphoma and died shortly after.
Later, doctors discovered that David's sister Catherine had epstein-Barr virus in her blood. After the bone marrow transplant, epstein-Barr virus was active in David's body, destroying David's immune system, which was about to be repaired, and eventually taking his life.
Before dying, David touched his mother's face for the first time...
<h1 class="pgc-h-arrow-right" data-track="40" >2. </h1>
Bubble boy refers to a boy who is born with a serious defect in the body's immune system, resulting in the inability to resist any bacteria and viruses, and can only live in a sterile environment for a lifetime.
So why bubble boys and not bubble girls?
Originally, combined immunodeficiency (SCID) is a congenital genetic disorder caused by defects on the X chromosome. Therefore, only boys will get sick, and girls can only carry it, but they will not get sick.
Therefore, the full name of combined immunodeficiency (SCID) is also called X-linked severe combined immunodeficiency (SCID-X1). If a pregnant woman is not tested for SCID-X1 before delivery, the child will develop a severe opportunistic infection within a month of birth due to severe deficiencies in cellular immunity and humoral immunity.
<h1 class="pgc-h-arrow-right" data-track="41" >3. How to screen for SCID? </h1>
Although the incidence of SCID is not high, it is still important to do a good job of screening. If the newborn is not screened for SCID in time at birth, the child will face repeated infections and a decline in the quality of life. Without timely treatment, the fatality rate of SCID is almost 100%.
However, there are now relatively reliable and inexpensive screening methods. After screening, transplantation is performed early, which can significantly improve prognosis.
As early as 2005, there was a screening method for the detection of T cell receptor resection loops using quantitative PCR methods, referred to as TREC. During the maturation of the thymus gland, TRECs recombine genes encoding T cell receptors to generate small fragments of free loop-like DNA.
TRECs do not replicate during T cell division and can therefore be used as a reliable indicator of the function of the initial T lymphocyte output of the thymus gland. When TRECs are reduced or missing, it is highly likely SCID that requires further flow cytometry and genetic diagnosis to confirm the diagnosis.
In addition to SCID, TREC can also detect other diseases, such as trisomy 21, DiGeorge syndrome, idiopathic T lymphopenia, and so on. Ideally, newborn immunodeficiency screening should be performed in combination with TREC-ADA.
Today, more than 90 percent of U.S. newborns are screened for SCID. The United States has also included NEWBORN SCID screening in its routine disease screening program.
Since then, the door to SCID screening has been opened, and countries such as the United Kingdom, France, Spain, Brazil, and Turkey have also begun pilot studies of neonatal SCID screening.
At present, the SCID screening in Taiwan has covered 90% of the newborns in Taiwan, and there are no reports of large-sample SCID screening of newborn populations in mainland China, and relevant data are also lacking.
According to statistics, the probability of SCID in the people of Taiwan is about 1/53 196, and the chance of Tcytopenia is about 1/11000. China is a country with a large population, with an annual birth population of about 17 million. According to the incidence rate in Taiwan, the number of T cell defect patients in China will exceed 1400 per year.
Experts call for China to start the scid screening pilot work as soon as possible to improve the level of prevention and treatment of immunodeficiency diseases.
In general, to improve survival and the quality of the population, newborn screening should be emphasized so as not to plunge children and families into unlimited suffering.
Resources:
[1] "Bubble Boy" who came out of the isolation hood at the age of 12, touched his mother for the first time before he died. Health Chengdu Guanwei. 2019-01-24
[2] "Gene therapy cures children with genetic diseases for the first time, and American doctors have made a big breakthrough!" Medical Community. 2019-04-23
Avoidable Hazards- Severe Combined Immunodeficiency Disease (SCID). Beijing Zhiping Medical Laboratory. 2019-08-30
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