Shortly after birth, a baby boy was diagnosed with a rare congenital immune deficiency disease called body guard (white blood cell) "on strike", making his body have no immune resistance, and any "pathogenic factors" could bring him a fatal threat, so only hematopoietic stem cell transplantation as early as possible could save his life. Experts from Neonatal Internal Medicine Department, Respiratory Internal Medicine Department, Hematology and Oncology Department, Precision Medicine Laboratory, Medical Imaging Department and other departments of Wuhan Children's Hospital worked together to get the baby out of the crisis. On July 21, the baby recovered and was discharged from the hospital. He will grow up safely in the natural environment like other babies in the future.
Baby Boy with Rare Disease - Immune Cells 'On Strike'
Mingming (pseudonym), a baby boy, was born in Xinyang city, Henan Province, in March this year. However, the baby was admitted to hospital due to fever for several days after birth, with the reason unknown, so his father, Mr. Shao, decided to take the baby to Wuhan for treatment.
In the Neonatal Internal Medicine Department of Wuhan Children's Hospital, doctors found what the child suffered from was extremely rare Aspergillus pneumonia after relevant examinations. After treatment, the symptoms of lung infection were relieved. But it was a very rare phenomenon for such a young child to suffer from pneumonia due to fungal infection. Dr. Zeng Lingkong, chief physician of Neonatal Internal Medicine Department, considered that the child might have congenital immune deficiency diseases, and recommended the relevant genetic screening. After consideration, his parents agreed to the doctor's suggestion. Later, the blood samples of the family were sent to the Precision Medicine Laboratory of Wuhan Children's Hospital for genetic sequencing and other related tests, and they also made regular follow-ups at the outpatient department of Respiratory Internal Medicine Department.
They were informed of the genetic screening results after anxiously waiting for a month. The child indeed suffered from a rare disease called X-linked chronic granulomatosis, which was a primary immunodeficiency disease with the incidence only about 1/250,000-1/200,000.
Chen Peng, associate chief physician of Respiratory Internal Medicine Department told this couple that, chronic granuloma was a condition that something was wrong with the immune cells in the blood, making his body have no immune resistance; as a result, there would be certainly repeated serious life-threatening infections after bacteria infection. Conventional anti-infection treatment was only a temporary cure for the disease. The only cure for him was to undergo hematopoietic stem cell transplantation as soon as possible to re-establish normal immune function.
Mingming's family had never heard of "chronic granuloma" before, let alone the cause of the disease, but the couple were very clear that, "we should try to treat our child, and we will not give up on him." After HSCT was planned, Mingming was hospitalized for infection twice more. In order to save their baby, the couple became even more determined to HSCT as soon as possible.
Bravely Overstride the "Life & Death Hurdle" to Bring the Hope of Life.
After he was admitted to the Hematology and Oncology Department of Wuhan Children's Hospital, the transplantation team made a therapeutic regimen for Mingming. Good news also came from the China Hematopoietic Stem Cell Donor Database (hereinafter referred to as "China Marrow Donor Program") that there was an identical and perfect match for Mingming. After hearing about Mingming's basic condition, the volunteer promised to "donate bone marrow" without hesitation to save the little life as soon as possible.
Considering the child's current fragile condition, the transplantation team of Wuhan Children's Hospital decided to apply for the expediting process at China Marrow Donor Program, and carried out donor physical examination and high-resolution matching simultaneously, so as to perform HSCT for Mingming as soon as possible.
On June 20, Mingming was officially admitted to the transplantation ward for "pre-operative treatment". As introduced by Dr. Chen Zhi at the Hematology and Oncology Department of Wuhan Children's Hospital, considering the child was only 3 months old, whose internal organs had not yet fully developed, it was necessary to not only perform successful transplantation, but also make the child have a normal life in the future, so he specially designed an intensity-reduced preparative regimen with lower long-term adverse effects after repeated literature review, so as to "create a better living space" for newly transplanted hematopoietic stem cells.
Subsequently, the "seed of life" from Changsha, Hunan was successfully transported to Wuhan and "planted" in the Mingming's body. In the process of waiting for "seed" growth, there was no hematopoietic system and immune system in the child's body, making him in a dangerous state, and prone to infection, thereby damaging the child's inner organs. The careful treatment and care of medical staff and his family members helped Mingming pass the "life & death tests" one after another with tenacious vitality, so that the "seed of life" could grow up in Mingming's body within just 12 days. After that, Mingming was successfully transferred to the general ward for observation.
"The child is recovering well. There are no serious complications during bone marrow suppression and stem cell implantation after the transplantation, and his mental response is good. The donor's cells are very strong", Xiong Hao, chief physician of Hematology and Oncology Department said.
During Mingming's treatment, Mingming's grandmother also needed a large amount of expenses due to a serious illness, causing a heavy family burden. The Hematology and Oncology Department of our hospital and the social workers applied for charity fund assistance for Mingming, helping the family to overcome the immediate difficulties.
Gene screening is recommended for a second child if the first child suffers from a rare disease.
Professor Lu Xiaoxia, vice president of Wuhan Children's Hospital and academic leader of Respiratory Internal Medicine Department, said: "Although Mingming suffered from a genetic disease, it is not difficult for Mingming's parents to have a healthy baby as long as there is a "escort" with sophisticated prenatal diagnosis technology. According to the principle of monogenic genetic diseases, if the mother is pregnant again, the fetus is male, there will be a 50% chance of chronic granulomatosis, 50% chance of normal; If the fetus is female, there is a 50% chance that it will be normal, and 50% chance that it will be a mutation carrier. If the fetus is a carrier, it means that the disease will not occur in the girl, but possibly in the boy of the next generation. Therefore, it is essential to make a correct diagnosis. "
Dr. He Xuelian, director of the Precision Medicine Laboratory of Wuhan Children's Hospital, said: "Genetic testing plays a great role in preventing birth defects. Genetic testing is recommended for couples who have had children with gene disorders, as well as for couples with genetic abnormalities in prenatal diagnosis. Noninvasive genetic testing in the second trimester can screen for chromosomal abnormalities as early as possible."