Rare Lives | The Overlooked “Birthmark”: A Father Initiates Self-Rescue Among Patients After His Daughter’s Diagnosis with a Rare Disease

“Why is my child bleeding from her lower body?”

Three years ago, when Xiao Buding, Xue Wen’s daughter, was taking a bath, Xue Wen’s spouse suddenly noticed something abnormal. At that time, the child was not yet six years old.

They went to the hospital for a diagnosis, and the doctor arranged a series of tests, ultimately confirming McCune-Albright Syndrome (hereinafter referred to as MAS).

“This is a rare disease, and there is no cure,” the doctor told Xue Wen. MAS is a congenital endocrine disorder listed in the nation’s first batch of rare diseases. It is caused by gene mutations, with typical manifestations including peripheral precocious puberty, café-au-lait spots on the skin, and fibrous dysplasia of bone. The incidence rate is between one in ten thousand and one in a million, and there is currently no specific medicine to treat it.

The “Chinese Consensus on the Diagnosis and Treatment of McCune-Albright Syndrome in Children,” jointly released by multiple institutions in 2023, mentions that affected children usually have large, light brown “birthmarks” at birth or after birth, commonly found on the neck and hips. Pseudo-precocious puberty may appear during infancy, and as they grow older, they may complain of bone pain and are prone to fractures. However, only 24% of children exhibit all three symptoms. In terms of pseudo-precocious puberty, girls are more likely to experience endocrine system disorders, and during early childhood, they may experience unexplained vaginal bleeding, breast development, ovarian cysts, etc. Boys, on the other hand, more commonly experience enlargement of one or both testes and/or abnormal testicular ultrasound findings, accounting for about 85% of cases.

When Xue Wen received this news via phone call, he couldn’t help but burst into tears.

Is there no cure for her entire life?

Xue Wen is from Nanchang, Jiangxi, and works in the railway system.

On the evening of August 31, 2021, Xue Wen’s spouse was preparing to give their daughter Xiao Buding a bath and discovered bleeding from the child’s lower body.

The next day, they went to a children’s hospital for an examination. Initially, precocious puberty was suspected, but after ruling it out, the doctor asked if the child had any gray patches on her body.

Xue Wen hesitated for a moment and said that when the child was born, she had a large birthmark, spanning from the left side of her waist to her thigh, with a color resembling latte coffee.

Xue Wen’s heart sank. Afterward, the doctor issued a hospitalization order. “Daddy, I don’t want to stay here,” Xiao Buding cried as she hugged Xue Wen. This was her daughter’s first hospitalization.

Xue Wen had to comfort her with tears in his eyes, coaxing Xiao Buding to undergo examinations, with blood drawn three times a day.

Xue Wen, who had previous military experience and was a tough man who feared no pain, now could not bear to see his daughter bleed or hear Xiao Buding cry out in pain. During blood draws, Xue Wen would cover Xiao Buding’s eyes and turn his head away.

After seeing the test results, the doctor called him in and said it was likely MAS, explaining many aspects of the disease.

Xue Wen’s mind was blank at that moment, and he couldn’t even remember the name of the disease. He just kept asking the doctor, “How can it be treated?”

“This is a rare disease, and there is no cure,” the doctor had to answer truthfully.

“There’s no cure for her entire life?” Xue Wen couldn’t accept this result.

“I cried in the hallway, in the corner, amidst the crowds, wherever my daughter couldn’t see me, feeling helpless and lost. My daughter gradually adapted to being shuffled between different examination rooms, but in places she couldn’t see, I became a complete mess, tears streaming down my face,” he said.

The next day, they went to another hospital for a bone scan. The doctor said that a bone scan required the injection of a tracer agent beforehand, which involved significant radiation. After the scan, they had to immediately drink at least 2000ml of water to quickly excrete the tracer agent.

Xue Wen immediately bought water and told his child, “Baby, you need to drink all this water as quickly as possible.” Seeing the child’s difficulty and distress, he pointed to the four extra bottles and said, “It’s a bit much. However much you drink, I’ll drink the same amount with you.”

Four bottles each, 2000 milliliters per person. “I’ll fight this battle with her,” Xue Wen silently made a determination.

The scan results came out quickly, and his daughter, who was five years and nine months old, was diagnosed with MAS.

Xue Wen took Xiao Buding to the mall.

Guarding Against the “Little Monster” Inside

“No medicine, no treatment, no solution.” This was the most common answer Xue Wen heard during Xiao Buding’s hospitalization.

Moreover, since it is caused by gene mutations, there is no way to prevent it.

The doctors comforted Xue Wen, advising him to stay calm, prepare himself, and seek medical attention promptly when symptoms appeared in his child.

But Xue Wen refused to accept fate, and he didn’t want Xiao Buding to either.

Xue Wen worked in shifts, and after work, he frantically searched for medical information both domestically and internationally. To understand the latest research progress abroad, he used translation software to look up each word.

Xue Wen recalled, “The first few months after the diagnosis were the hardest. I often couldn’t sleep at night and searched for literature until two or three in the morning. I still had to go to work the next day and get up at five or six. If I still couldn’t sleep, I’d continue searching until dawn, then go to work.”

During his searches, he joined a MAS patient support group.

Xue Wen found that everyone’s situation was different, with varying locations and severity of symptoms. For some children, their legs were deformed when they were only two or three years old. Fibrous bone tissue replaced osteogenic tissue, which also easily led to fractures. Although the fracture rate was lower than that of “porcelain babies” (osteogenesis imperfecta), if not treated in a timely manner, it could progress to osteosarcoma, which would be more troublesome. Some MAS patients also suffered from other rare diseases, which was more common in Chinese patient support groups.

What gave Xue Wen some relief was that this disease mostly did not affect life expectancy. “Very few children die from this disease.” Unfortunately, in 2022, he witnessed the deaths of two children with the disease, one was six months old, and the other was 17.

Xue Wen learned that there were more girls among MAS patients, and as adults, they had a slightly higher incidence of breast cancer.

After the diagnosis, his daughter stopped attending street dance classes. Xiao Buding was still in her last year of kindergarten at that time, so Xue Wen told her: “There’s a little monster inside your body, so you can’t do strenuous exercise. If you wake it up, it will be troublesome.” This way, the child would know how to protect herself.

Xue Wen also hesitated about whether to tell her, but during conversations, he found that some parents had a strong sense of “stigma” about the disease and wouldn’t talk about it with outsiders, or even with their children. However, when the children reached puberty, they would become confused. These children would say, “Why do I have this disease?” “No one has ever told me about it since I was a child,” and so on.

Now Xiao Buding has started elementary school. Every time before school, Xue Wen repeatedly reminds his daughter not to run or jump, and not to engage in strenuous exercise. After school, he also asks if she feels any discomfort.

“This may be a method that many parents dislike—forcing it upon them, but for us, there’s no other way,” Xue Wen said.

Xue Wen took Xiao Buding on a trip.

“Wanting to Defeat It”

For Xue Wen, there is still a hidden pain in his heart. When his daughter was born, she had a large café-au-lait spot, and he remembered that the doctor only said it was a “birthmark.” If he had been more vigilant at that time, he might have discovered it earlier, and they could have prepared sooner.

The current treatment method is to regularly administer bisphosphonates, which can alleviate bone pain and reduce the risk of fractures.

Xue Wen said, “Some friends in the rare disease community always tell me to coexist peacefully with the disease. I don’t like hearing that. It has already taken my child’s health; why should I coexist peacefully with it? My goal is to defeat it!”

However, this cannot be accomplished by individual efforts alone. Since MAS was first named in 1936, there has been no successful case of cure.

Xue Wen wanted to establish a patient organization, hoping to attract the attention of pharmaceutical companies, promote drug research and development, enhance communication with medical staff, reduce misdiagnosis, and facilitate mutual assistance