Medical road ahead

"Fatty-Willi syndrome?"

Qiao Tan was a little unfamiliar with the name of this disease, and after thinking for a while, he finally remembered, "The official medical name of this disease seems to be 'Prader-Willi Syndrome', commonly known as 'Prader-Willi Syndrome'. Fat Willie', is a disease of chromosome 15 abnormality. About 70.00% of the patients are due to the deletion of the NO.15 chromosome from the father, and its incidence is about 1/15,000, which is very rare and clinical symptoms It is complex and behaves differently at any stage of growth and development, so it is easy to be neglected, causing patients to miss the opportunity for treatment."

"Yes."

Qin Xiao nodded and said: "So when this patient was ill when she was a child, her parents didn't pay much attention to it. Now, she is eighteen years old, less than 1.5 meters tall, but weighs 300 catties, and her hands and feet It’s only the size of a 7- or 8-year-old child.”

"Already? My God!"

Qiao Tan was startled and bewildered, and he couldn't understand it, "It stands to reason that the sick people will behave differently from ordinary babies when they are babies. The most obvious features are insufficient sucking power and insufficient feeding. Some patients, It even requires nasogastric tube feeding. Didn’t the parents and the hospital notice this problem?”

Qin Xiao frowned and said: "According to the data, this patient named Xiaoxue was born in a low-income family in rural areas, her parents died, and now she lives with her grandparents. Because of her obesity and deformity, she has become a little monster among her peers. Even the adults in the village often bullied her verbally. Fortunately, a teacher who went to the local school to teach found her abnormality, and then contacted the county hospital to examine her, and was diagnosed with chubby weili syndrome.

Afterwards, this incident attracted the attention of the Red Cross, and they quickly listed Xiaoxue as a recipient of the Red Cross Foundation's Growth Angel Fund relief project, and began to treat her. "

"Is it a girl?" Qiao Tan asked immediately.

Qin Xiao nodded, "Well, Xiaoxue is a girl."

"Then she must be very unhappy." Qiao Tan frowned.

Qin Xiao said: "It's not as bad as you think. Xiaoxue is a strong girl. Since she was diagnosed with the disease and received help from the Red Cross and other caring people, she began to fight against the disease. Not only did she suppress her crazy appetite , running, climbing, and fitness. Not long ago, I cut off one-third of my stomach and the most nutrient-absorbing part of my 1.3-meter small intestine, but my weight is still increasing.

However, this is not what troubles her the most. Developmental delay and bad temper are the biggest tortures for her.You think, she is 18 years old this year. Even if she didn't go to university, she should come out to earn money to support her family. But in her current situation, she can't enter the society to seek a job at all. "

"It's a pity that she missed the best time for treatment, and there is no radical treatment for this disease. If it is discovered early, it can be intervened in the early stage, and it will be much better if it is combined with growth hormone injection, at least it can reduce the occurrence of complications. .” Qiao Tan felt regretful.

Qin Xiao held her hand empathetically, and said, "I hope our comprehensive consultation can make up for it and help Xiaoxue."

"Well, let's work together."

Qiao Tan held his hand instead, his eyes determined.

"Is everyone here?"

After a while, Dean Chen and Liu Yaxiu walked into the meeting room, asked the assistant to distribute Xiaoxue's personal information and medical records to the doctors present, and explained her situation in detail.

"Xiaoxue proposed to the Red Cross not long ago that she wanted to work to relieve the burden of the two elderly people in her family. Therefore, the Red Letter Society came to our hospital, hoping that we could improve her current condition and at least make her look like a normal person. Go out to work, make friends, even get married and have kids.”

After introducing Xiaoxue's situation, Dean Chen revealed the real purpose of arranging this comprehensive consultation.

"I'm an 18-year-old girl, it's time to see the world in the society." Director Xu of the Psychology Department said.

"Moreover, this disease only hinders her normal physical development, and her psychological development is still going on. Therefore, she is already an adult psychologically, and naturally wants to enter the world of adults instead of continuing to be taken care of by her family like a child." side." Pediatrician Dr. Lu continued.

"It's a girl again. My daughter is only 15 when I married, and I already have a boyfriend. Besides, Xiaoxue is 18. I definitely want to have a relationship like a girl of the same age." Ophthalmologist Dr. Qi said.

"What? Have you had a boyfriend since you were 15?"

Hearing this, Dean Chen, who was sitting on the stage, was surprised.

"Oh! Chen Yuan, the young people nowadays are very precocious, let alone 15, some of them started dating in elementary school." Doctor Qi laughed.

"Tsk tsk!"

Dean Chen was amazed, and then said: "My granddaughter will just start elementary school next year, so I have to ask her parents to watch her closely."

"I can't stand it."

Dr. Qi shook his head helplessly, "There are policies and there are countermeasures."

"And the stricter you are, the more they want to resist." Dr. Lu added immediately.

"exactly!"

Except for the two young doctors Qin Xiao and Qiao Tan, the rest of the doctors present nodded in agreement.

"Come, come, let's talk about Xiaoxue's question."

Seeing that the topic was off topic, Dean Chen quickly got back to the topic, "Because Xiaoxue missed the best time for treatment, and she is still in puberty, so I think so about her comprehensive consultation.

First of all, her obesity problem has been identified. Now, it is necessary to determine whether she also has diabetes, scoliosis, and insufficient muscle coordination;

Secondly, the short stature has also been shown, but it is not particularly serious. After all, people in City C are generally not tall.Of course, it would be best if it could be improved and let her grow taller;
Thirdly, for her girl's poor sexual development, she needs to focus on improvement;
The last point is her emotional problem, which is also the most difficult point. If she cannot control her emotions, it will be difficult for her to enter society, and it will have a long-term negative impact on her family. "

"Chen Yuan, how is her intelligence? Most patients with Chubby-Willi Syndrome will develop mental retardation during puberty. What about her? Is her condition serious?" Qin Xiao raised his hand and asked.

"Yes, Yuan Chen didn't seem to mention Xiaoxue's intellectual problems." Doctor Zhou from the rehabilitation physiotherapy department nodded.

"Because Xiaoxue has no mental retardation!"

Dean Chen spread his arms and grinned again.

"Oh? That's quite rare. Generally speaking, when patients with this disease reach puberty, their intelligence will be somewhat lower than that of their peers." Dr. Qi said.

"The previous hospital gave Xiaoxue an IQ test, and found that her IQ was only a little lower than her peers, not considered mentally retarded," said Dean Chen.

Dr. Zhou said, "Then she is a special case."

Dean Chen nodded with a smile, and continued: "It is precisely because of this that I have full confidence in her recovery, and I hope that the doctors here, like me, believe that they can improve Xiaoxue's condition and let her enter society like a normal person." .”

"it is good!"

The doctors present responded in unison, all with confidence.