Was she born extraordinary?

"The long winter will always pass." Xiao Xia (pseudonym) said with a smile.

Winter is very "dangerous" for Xiao Xia, not only because it is cold, but also because winter is a time when cardiovascular diseases are most prevalent, and Xiao Xia is a patient with Marfan syndrome .

[The hemp rope is cut only at the thin part]

Xiaoxia was born in an ordinary rural family. As far as she can remember, her mother has been weak and sickly. She often suffers from chest pain and can't breathe. Her father said that it was probably a heart problem . She couldn't do any heavy work and could only do some simple housework. Her father was considered a strong laborer in the family and worked in the coal mine in the county town. Xiaoxia was pretty, tall and thin, with slender fingers. Everyone in the village praised her. She was also very capable. After studying, she helped with family affairs. Although her life was tight, she could still get by.

But misery came quietly. Not long after Xiaoxia started high school, her mother suddenly collapsed while doing housework at home. When her father came home and found her, her mother had passed away. Such a heavy blow broke the family. Xiaoxia lost interest in studying and got married hastily when she reached the marriageable age.

After marriage, Xiaoxia and her husband started a small business, and their life gradually improved. Soon, Xiaoxia became pregnant, and the dawn of life illuminated this small family again.

However, Xiaoxia experienced chest tightness, shortness of breath and other discomfort symptoms from time to time during her pregnancy. She thought it was an overreaction during pregnancy and did not take it seriously. She just took more rest when she felt uncomfortable, and slowly she got over it. After ten months of pregnancy and ten months of torture, Xiaoxia successfully gave birth to a boy. The arrival of the boy brought hope and joy. The couple was full of hope for the future.

But misfortune struck again. The chest tightness and shortness of breath Xiao Xia had experienced during her pregnancy did not disappear with the birth, but instead developed into severe chest pain . The persistent chest pain reminded Xiao Xia of her mother's symptoms before her death, and she finally made up her mind to go to the provincial hospital for a checkup.

It is a serial killer

Based on the results of the heart examination, combined with her own physical characteristics, and the fact that Xiao Xia's mother was suspected of sudden death, the doctor suspected that Xiao Xia had Marfan syndrome. Xiao Xia couldn't understand it. How could being tall be a symptom of the disease? And what did her illness have to do with her mother?

The doctor told Xiao Xia that tall people are well-proportioned, while Marfan syndrome patients have thin fingers and toes, just like spiders, so this disease is also called "spider disease". The typical physical characteristics of Marfan syndrome are disproportionate height, and there may also be symptoms such as scoliosis, thoracic lordosis, and sternal protrusion. At the same time, Marfan syndrome is a genetic disease and is likely to be passed down from parents to children. Therefore, the doctor recommended that Xiao Xia undergo further examinations.

Through genetic testing and further examination results, Xiao Xia was diagnosed with Marfan syndrome . In addition, echocardiogram showed that Xiao Xia had obvious aortic dissection, which was also the cause of her persistent chest pain. "What is this aortic dissection?" Xiao Xia asked puzzledly. The doctor explained that the artery of a normal person is like a water pipe, and the dissection is a bulge on the water pipe. Once this bag suddenly ruptures, it may cause sudden death. But will this bag rupture? When will it rupture? It is unpredictable, just like a time bomb in the human body, which is very dangerous. This dissection is caused by Marfan syndrome!

When Xiao Xia thought about the time bomb in her body and her son being so young, she felt scared. Fortunately, the diagnosis has been confirmed and she can take active measures to prevent the disease.

To treat aortic dissection, the doctor performed surgery on Xiao Xia. After the surgery, Xiao Xia was conscious and had no obvious discomfort. She recovered very quickly and will be discharged from the hospital soon.

During her hospital stay, Xiao Xia learned a lot about Marfan syndrome. She learned that there is about a 50% chance that this disease will be passed on to the next generation, and that the early symptoms of the disease are not obvious, but once it occurs, the mortality rate is extremely high.

Could it be possible that her son would also get the same disease? Xiao Xia hurriedly consulted a doctor. The doctor said that the inheritance rate of this disease is indeed relatively high, so it is recommended that the child also undergo genetic testing and corresponding examinations. Through early detection, early prevention, and early treatment, the risk of disease can be reduced. In addition, if Xiao Xia has plans to have children again, she can consider going to a qualified prenatal screening agency for screening before embryo implantation to detect in advance whether the baby carries a pathogenic mutation, so as to avoid the baby from getting sick again.

【There is always hope when you are alive】

The day Xiaoxia was discharged from the hospital was a rare sunny day. The sun shone brightly on Xiaoxia's face, making her feel warm inside. The doctor told Xiaoxia to avoid strenuous exercise after being discharged from the hospital, and to come to the hospital for regular checkups to monitor the progression of the disease at any time.

After the operation, Xiao Xia no longer had chest pain. Facing the mysterious "Marfan syndrome", Xiao Xia no longer had the initial panic and worry. Soon, the results of Xiao Xia's son's genetic test came out. Fortunately, the child was not sick, and the claws of fate did not reach out to this strong family again.

Today, Xiao Xia actively cooperates with the treatment and follows the doctor's advice for regular checkups, and the disease is under control. As time goes by, her son becomes more and more sensible, and the family business gradually picks up. "Life will always get better and better..." Xiao Xia can't help but sigh as she thinks back on her life.

Original article, no reproduction without authorization