There are a group of children who have difficulty eating before the age of 2, but are troubled by soaring appetite after the age of 2. These children are different from other children in size, cognition, understanding and behavior, and it is difficult for them to really integrate into society.

Their common name is "Little Willy" and their scientific name is Prade-Willy syndrome, and the incidence rate is about one in every 5000/kloc-0.

The misdiagnosis rate of chubby Willie syndrome is as high as 95%, and it is often misdiagnosed as cerebral palsy, spinal muscular atrophy (SMA), myasthenia gravis, rickets, developmental retardation, simple obesity and so on. And many professionals know nothing about it.

There are about 654.38+ ten thousand patients with chubby Willie syndrome in China, but the treatment rate is less than 654.38+0%.

Diagnosed from birth.

20 19, Jia Jia (a pseudonym) was born in Jinan, Shandong province.

The baby was sent to children's hospital on the third day after birth, and the doctor immediately inserted a stomach tube according to the child's condition.

It turned out that on the third day after birth, Jia Jia had difficulty breathing because of her abnormal sucking ability, which worried her family.

Parents rushed the baby to the local children's hospital for more than 20 days of examination and treatment, and finally Jiajia was diagnosed with chubby Willie syndrome.

Jia Jia was diagnosed as soon as he was born. This is a blessing in disguise.

Early diagnosis and early treatment are very helpful to children's health. Many children were diagnosed as cerebral palsy and myasthenia gravis by the hospital in the early stage, and parents also tried their best to treat their babies. As a result, they walked a long way on the road of abuse, and their families wasted time and money, and the baby also delayed the best treatment period.

Worried about their children's health, Jia Jia's parents first took their children to the provincial hospital, and then transferred them to the Municipal Maternal and Child Health Hospital.

Now Jia Jia is three years old, which is very different from when she was born: Jia Jia's swallowing ability has become stronger. Since she had a bad appetite before, she will find food for herself now, which makes her parents very pleased.

And all these changes actually depend on growth hormone. Promote children's bone growth, increase growth speed, accelerate fat decomposition, reduce fat accumulation, increase muscle mass and strength, and improve cognition, behavior, IQ and adaptability.

In Jia Jia's cognitive concept, she and her husband are in good mental state, full of positive energy at ordinary times, and their bodies are normal. The important thing is that she didn't receive the notice when she took the pregnancy test: this phenomenon may happen to children.

At present, genetic testing is the first choice for the diagnosis of chubby Willie syndrome, and its genetic mechanism can be determined through genetic diagnosis, thus assisting clinical diagnosis.

Jiajia has a sister on it. She is optimistic, cheerful and lively. But the arrival of Jia Jia gave this happy family a blow.

For Jia Jia's mother, she doesn't want Bauer to be rich or expensive in the future, but only wants her children to be healthy and happy, even if they are ordinary people.

But now three-year-old Jia Jia has to rely on growth hormone every day to slightly improve the effects of the syndrome. As the baby eats more and more, his appetite is wide open, and what Jia Jia's mother is more worried about appears.

Complications are the most headache.

With help, PWS patients can accomplish many things that "normal" peers can accomplish: reading, working, having personal interests and hobbies, and even living independently from home. But in order to achieve these goals and prevent the serious health consequences caused by obesity, they especially need support from family, school, workplace and community.

In the past, many chubby Willie patients died of complications caused by obesity before the age of 20. There is evidence that if children can be prevented from being obese, they can lead a normal life.

"This disease is lifelong. Now she can rely on growth hormone. In the future, the child's weight gain dose will also increase, but now a drug is 1040 yuan. "

Jia Jia's worry is unreasonable. This disease does lead to many complications, including mental retardation, weak motor ability and the need for constant supervision.

Although the incidence of chubby Willie syndrome is extremely low, it has a lifelong impact on children. Even with the advice of experts, the child's condition can be alleviated by growth hormone, but parents should pay more attention to their children, including diet and living habits.

Under the careful care of her mother, Jiajia eats more vegetables every day. Occasionally, her mother will prepare some coarse grains for her. The child has a good appetite and gains weight quickly. Children can occasionally respond positively to their mothers' hard work.

But behind this sunshine, there is also a side that makes Jia Jia's mother feel distressed.

"The child will still pee his pants now, of course, this is beyond her control. Three-year-old Jia Jia should have considered sending her to kindergarten, but we are still worried about her situation and are afraid that the kindergarten will refuse ... "

In addition, Jia Jia Ma also found that babies often lie and have social barriers. This makes Jia Jia's mother very worried. She and her husband used to have stable jobs. With the arrival of three babies at home, it falls to Jia Jia's mother to take full-time care of the children at home.

I just want the child to be healthy.

Even if you are like an ordinary person.

The horse works with her husband. Although life is a little harder, the family never complains.

On weekdays, she sends Dabao to kindergarten first, and then brings Erbao and Sanbao, aged three and one, at home, so that Jiajia can have a companion and not always shut herself in her room.

Ma also told reporters: "Even if life is a bit bitter, the expenses at home can still be supported. The father of the child doesn't want to rest at ordinary times, so he wants to earn more. Because the child is heavier in the future, the amount of growth hormone that needs to be played will also increase, and at least 10,000 yuan of medical expenses should be prepared for one month. "

As parents, they don't want to give up, let alone give in.

What's more, Ma has applied for the support of the "Disease Challenge Foundation" and can get about 6,000 yuan from the government every year.

In fact, they all know that society has not forgotten the children with chubby Willie syndrome. Therefore, Jia Jia's parents are also full of confidence in the future. They look forward to the early emergence of specific drugs for the disease, and the life-saving drugs for treating the disease can also be included in medical insurance as soon as possible.

Through the joint efforts of Xiaopang Weili Care Center and the forces from all walks of life, the disease has been included in medical insurance in Hunan, Anhui and Sichuan provinces, as well as Huai 'an in Jiangsu and Linyi in Shandong.

Optimism is a strong belief to support parents, and children's future and health are their motivation to support themselves. But when will this road end? How long will they have to wait to see their children say goodbye to the disease completely?

I hope their persistence can wait for growth hormone to be included in medical insurance as soon as possible! We also call on people from all walks of life and relevant departments to understand the plight of "chubby Willie syndrome" families, create a healthy and comfortable public opinion environment for chubby groups, and help eliminate social misunderstandings and prejudices.