This article has been published to coincide with Rare Disease Day, a global campaign to raise awareness of rare diseases and their impact on patients’ lives.

Life in Yuncheng — a small county in China’s eastern Shandong province — has largely ground to a halt in recent weeks amid the ongoing COVID-19 epidemic. Lu Liang, however, has barely noticed the difference.

The 16-year-old’s father, Lu Lansu, has continued working 10-hour days as a courier throughout the crisis, to support the family. Her mother, Ding Aihua, meanwhile, has stayed home taking care of Liang and her little brother, Lu Haoran — as she has done for the past four years.

Both children are unable to walk and need constant care. Haoran, who is 9, has trouble breathing, requiring his mother to check on him round-the-clock to ensure he’s getting enough oxygen.

“I wish I could help Mom take care of my brother — she can barely sleep at night,” says Liang. “But I can’t.”

The two siblings have the same rare condition that affects an estimated 10,000 people in China: glycogen storage disease type II, also known as Pompe disease.

The genetic disorder causes a deficiency of an enzyme named acid alpha-glucosidase (GAA) that helps break down complex sugars inside the body. Without enough of it, a patient’s organs and muscles gradually, but irreversibly, degenerate.

Liang’s condition isn’t as severe as her brother’s, but the progression of the disease has been equally remorseless. In third grade, she started to get tired climbing stairs. By sixth grade, her classmates had to help her reach the classroom. Last year, she lost the ability to move her legs completely.

“Their situations are both deteriorating, but slowly,” Ding, the children’s mother, tells Sixth Tone.

It didn’t have to be this way. There is an effective treatment for Pompe disease: alglucosidase alfa, sold by French pharmaceutical firm Sanofi under the brand name Myozyme. Regular doses can mitigate a patient’s GAA deficiency in a similar way to how insulin shots help type-1 diabetics.

But the drug is expensive: A year’s worth of shots for a patient weighing 50 kilograms — an average weight for a girl Liang’s age — costs over 2.7 million yuan ($385,000). And like countless other medications for rare diseases in China, it’s not covered by most public health insurance schemes.

China has an estimated 20 million people living with rare diseases, many of whom struggle to pay their medical bills due to gaps in insurance coverage. The average Chinese rare disease patient pays over 50,000 yuan per year for their treatment, with insurers covering only 20% of the costs, according to a 2018 survey by the Illness Challenge Foundation.

In many cases, patients have to forego treatment entirely. There are over 200 people registered with the China Pompe Care Center, but the vast majority has never taken Myozyme, according to Guo Penghe, the center’s director, who herself has Pompe disease.

“Around 20 have used the drug,” Guo tells Sixth Tone. “But none of us can afford to use it continuously and in sufficient doses.”

One course of Myozyme injections was enough to wipe out the Lu family’s entire life savings. The family made the decision to give Haoran the shots after the then-5-year-old’s diagnosis in late 2015.

Haoran had never been able to walk properly and his feet and hands were often swollen, but his parents had assumed the symptoms were caused by a kidney problem. It wasn’t until they took Haoran to a top-tier hospital in Beijing, over 500 kilometers away, that specialists confirmed the young boy had Pompe disease.

Just before Haoran’s diagnosis, he slipped into a coma after running a fever for several days. Staff at the intensive care unit had to give the boy a tracheotomy to aid his breathing. The procedure left him unable to survive without being permanently connected to a respirator.

A tracheotomy reduces the effectiveness of Myozyme, but the parents, fearing for Haoran’s life, decided to pay for the treatment anyway. They spent 200,000 yuan on 40 injections.

After just a month of treatment, the boy’s health markedly improved. From once being unable to move his arms at all, he could then lift them easily. Even today, Haoran can still play games on his cell phone — a fact Ding attributes to the effects of the drug.

Although Sanofi advises against using Myozyme on patients who have undergone a tracheotomy, such patients often show visible improvements after a course of treatment, according to Zhang Cheng, a leading physician in the neurology department of the First Affiliated Hospital of Sun Yat-sen University in Guangzhou. 

“After receiving the medication, their conditions improve even though some have been breathing with a respirator for many years,” says Zhang. “The challenge for most, if not all patients’ families, is whether they can afford the essential medication.”

The family has been unable to save enough money for another course of Myozyme shots. Lu, the father, had to quit his job in the shipping industry to make sure he could always be close to home, while Ding has become a full-time caregiver.

Lu’s presence in Yuncheng has proved vital. On several occasions, Haoran’s respirator shut down after the neighborhood experienced a power outage, forcing the father to rush home to help connect it to a backup generator. 

The family has since scraped together the money for two batteries that can power the respirator for up to six hours. Even such small purchases, however, can be difficult. 

Lu makes just 3,000 yuan per month as a courier. The family’s other main source of income is a monthly welfare payment of 700 yuan.

Around 1,000 yuan of this money goes toward basic medical supplies for Haoran, such as aspirators and disinfectant. What remains is barely enough to cover food and other everyday essentials.

Without access to Myozyme, Haoran’s health has continued to deteriorate, according to Ding. “The disease itself doesn’t worsen quickly, but his breathing muscles have weakened a lot,” says the 43-year-old. 

“He could breathe without the respirator for over 10 minutes in the past. Now he can’t do it for one minute,” adds Lu.

The most painful thing for the family, however, has been their inability to provide Haoran’s sister, Liang, with any treatment at all.

Liang’s diagnosis came in early 2016, just two months after Haoran’s. As a genetic disorder, there was always a chance both children might have Pompe disease. Though Lu and Ding are healthy, they both carry faulty GAA genes. Children of such couples each have a 25% chance of contracting the condition.

Liang lost the ability to walk in mid-2016 and now spends all her time in bed. Though she doesn’t require a respirator like her brother, Ding has to keep an eye on her at all times. 

Once, the girl’s blood oxygen level dropped to 20% — far below the normal level of 95% — during the night. Luckily, her mother was able to resuscitate her with an oxygen mask.

“Probably due to a shortage of oxygen, I get headaches and feel very tired sometimes,” says Liang. “I fall asleep very easily.”

Despite her declining health, Liang says she understands her parents’ decision to spend their entire savings on treatment for Haoran. “The drug saved my brother’s life,” she tells Sixth Tone.

Ding and Lu try to remain upbeat around their daughter. In private, however, Lu admits he hasn’t had the courage to talk openly with Liang about her condition.

“She’s never started the discussion, either — we’re both afraid of discussing it,” says Lu. “Deep inside, I worry that she’s scared and anxious.”

The 16-year-old understands the reality of her family’s situation. She has placed her hopes on policy changes that would give her and her brother access to Myozyme. She continually writes to the local and provincial health authorities, making the case for reform.

“Most of the time they reply to me in quite bureaucratic ways,” says Liang. “They tell me they received my emails and ask me not to repeatedly write the same things.”

But there have been tentative signs of progress for China’s Pompe disease patients in recent years, according to Guo, the care center director. 

When Guo was first diagnosed in 2014, it wasn’t possible to buy Myozyme domestically: It became available on the Chinese mainland in 2017. A year later, the Chinese government included Pompe disease in its first list of rare diseases — a move designed to spur policies and medical research that would aid patients living with conditions listed among the included 121.

In recent years, several Chinese cities and provinces have reformed their public health insurance schemes to partially fund treatment for Pompe disease. In Jining, a city bordering the Lu family’s hometown of Heze, Pompe disease patients are entitled to reimbursement on 80% of their medical bills.

Though the moves are a step forward, patients say it’s still not enough to make a real difference.

“Even if the same policy is enacted in Heze, we won’t be able to afford it (the treatment),” says Lu.

“Self-funding 20% of the medical bills means an expenditure of up to 500,000 yuan a year — the average family can’t afford it,” agrees Guo. “Even if we were just required to pay 5%, most of our patients wouldn’t be able to afford it.”

According to Guo, some patients try raising money from GoFundMe-style crowdfunding platforms to pay for Myozyme. But few raise more than 200,000 yuan, which won’t even pay for a month of treatment at the correct dosage.

Zhang, the physician, has had to convince families not to sell their properties to pay for the drug in the past. “This is a lifelong disease, and life has to continue,” he says.

The doctor admits, though, that the life expectancy of Pompe disease patients will definitely be shorter without the medication.

“Even if a patient pays sufficient attention to nutrition, preventing colds, and maintaining a healthy lifestyle, they will typically live 10 years fewer than average,” says Zhang. “If they don’t pay enough attention to these factors … they can die easily. Even a cold can mean they suffocate to death, for they’re unable to expectorate.”

Unless insurers move to 100% funding for Pompe disease treatment, patients’ only hope of gaining access to Myozyme would be if domestic pharmaceutical companies begin producing the drug, according to Guo.

“Our wish is that generic drugs can be made domestically as soon as possible, which would greatly bring down the prices of the drugs,” says Guo.

No Chinese firm has announced plans to produce generic drugs for Pompe disease to date. As with many rare conditions, firms have little commercial incentive to do so, according to Zhang. 

“The number of patients is too small,” says Zhang. “Companies lack the motivation to research or produce the drug.”

The Lu family, however, still dreams of gaining access to Myozyme. Ding says she hopes the drug can help her children get a bit better, so they can find work online and gain some financial security.

“Their father and I are getting old — we won’t be able to take care of them for their whole lives,” says Ding. “I know they won’t get as healthy as other children, but if they can support their own lives in the future, I’ll be more than content.”

Liang is continuing her education from her bed, reading textbooks on her cell phone. Her greatest wish, she says, is to go outside again one day.

“I want to go back to school; I want to help my mom take care of my brother; I want to run and jump like the others,” she says.

Editor: Dominic Morgan.

(Header image: Ding Aihua cares for her children in Heze, Shandong province, March 2019. Li Yang and Wang Haowei for Sixth Tone)