In Hubei, a Single Mother’s Lonely Fight Against a Rare Disease

At age 9, Manman has already outlived his doctors’ predictions by six years.

The symptoms appeared when he was just four months old. “I noticed large coffee-colored patches on the right side of Manman’s face,” recalls his mother, Zou Yang. “His facial features were uneven and his right eye wouldn’t respond to light.”

Initially, his condition drew inconsistent diagnoses. While some doctors suggested the patches were mere birthmarks, others suspected meningitis or developmental abnormalities in the brain.

But six months later, an MRI confirmed the worst: Manman had a growth in his brain, a manifestation of neurofibromatosis, a rare genetic disorder that causes tumors throughout the body.

“I was so relieved to finally get answers,” says Zou, a single mother from the central Hubei province. “But there’s currently no cure for the disease. One doctor predicted that Manman wouldn’t live past the age of 3.”

The 37-year-old spoke with Sixth Tone while on her way to Beijing with Manman to attend the premiere of “I Want You to Be Ordinary,” a documentary released ahead of World Rare Disease Day, observed every year on the last day of February.

The film aims to shed light on their journey and the broader challenges faced by individuals grappling with rare diseases in accessing essential treatments.

Produced in collaboration with Tencent Charity, the Illness Challenge Foundation, and Bubble Home — a nonprofit that helps neurofibromatosis patients and their families, where Zou also volunteers — the film documents Zou and Manman’s life over four months, starting from the previous summer.

Despite the emotional toll of reliving her tumultuous experiences, Zou hopes to help raise awareness about neurofibromatosis, a disease often overlooked in China. She also aims to draw attention to and support a community of over 800,000 individuals affected by the disease across the country.

Abbreviated as NF, neurofibromatosis causes tumors to grow on nerves in the brain and throughout the body. Type 1 NF, representing over 90% of cases, occurs in about 1 in 3,000 newborns worldwide, with an estimated incidence of 5 per 1 million individuals in China.

The rarer Type 2 NF and schwannomatosis have incidences of about 1 in 25,000 and 40,000, respectively.

Always at risk

Manman’s been diagnosed with Type 1 NF. Tumors have spread across his skull, eyes, oral cavity, and face. Though benign, they’ve even covered his right optic nerve, leading to the loss of vision in his right eye.

“From head to toe, tumors can grow anywhere there are nerves in the body,” Zou explains. “Some tumors may appear on the skin, resembling mosquito bites with potentially hundreds of bumps. When they grow on the face or other visible areas, they can alter facial features.”

She underscores that the disease could become life-threatening if tumors develop internally, in areas like the skull, pelvic region, chest, or spinal canal.

And with no established treatment protocols, doctors are limited to monitoring the tumors’ growth and resorting to surgery only when absolutely necessary.

But for Manman, surgery, which would cost between 60,000 and 100,000 yuan ($8,300-$13,900), isn’t even a guaranteed solution, given the high recurrence rate of the tumors. “It’s crude, but doctors compare it to cutting an endless supply of garlic chives,” rues Zou.

It’s why doctors often don’t recommend surgery. “The high likelihood of recurrence means that many patients, facing physical, financial, and psychological hurdles, choose to avoid further treatments,” says Zou.

Unwilling to give up, Zou dedicated herself to learning about and seeking out the latest international research, often translating complex medical information with the help of an English dictionary. Her quest for better treatment led her to various hospitals across China.

And in a bid to share her journey and support others, Zou began posting her experiences on multiple social media platforms including the microblogging platform Weibo, where she documents Manman’s daily life, offers step-by-step tips for parents, and offers updates about the latest research developments.

“Through such posts, I am fighting for Manman’s survival. I’m seeking hope for his life, and I’m thankful that our journey allows us to support other children in need,” she says.

Along the way, she also began volunteering for the nonprofit Bubble Home, which is named for the distinctive lumps that appear on children’s bodies due to the disease.

In the last five years, the organization, established in 2019 in the southern Chinese city of Shenzhen, has helped connect 12,000 patients and anticipates reaching 15,000 this year, according to Zou.

“Honestly, I wish the number of patients didn’t have to increase, nor do I want Bubble Home to expand. That would mean more people are suffering from the disease,” she says. “Our ultimate goal for Bubble Home is for it to no longer be needed.”

Zou’s commitment to public welfare and advocacy was among the factors that drew Shi Chuannan, the documentary’s producer, to work with her. “Rather than just general information on the disease, the documentary focuses on the most significant challenge patients and families face: the lack of access to medication,” says Shi.

Despite an estimated 20 million people grappling with rare diseases across China, they often receive less attention from pharmaceutical companies, which typically focus on diseases with larger markets and more profit potential. It’s why patient organizations and foundations play a crucial role in advancing the development of treatments for rare diseases.

Last September, the continued advocacy of groups such as Bubble Home helped ensure that neurofibromatosis was included in China’s second catalog of rare diseases, signaling the government’s commitment to improving diagnosis, treatment, and policy support for rare diseases.

And in May 2023, Koselugo, an orphan drug that slows or reduces tumor growth, was approved in China and added to the national insurance list in December.

“For neurofibromatosis patients, 2023 was like the year of rebirth,” says Zou.

Isolated

The impact of neurofibromatosis extends beyond the complex treatments and financial burden it imposes. Patients still encounter discrimination and isolation in social, educational, and employment spheres.

For instance, because of his condition, Manman was initially rejected by a local kindergarten. Determined to secure his enrollment, Zou gave up her job in real estate and passed teacher qualification exams so she could work in the kindergartens, and stay close to Manman.

“I agreed to work under stringent conditions in exchange for a spot for my son,” she recalls. The kindergarten eventually accepted her offer, coupled with a disclaimer absolving the school of liability for any incidents involving Manman on their premises.

“While terribly unfair, it’s a sacrifice we had to make to give Manman a shot at a normal life like other kids of his age,” she says.

Three years later, Zou passed another teaching qualification test to enroll Manman in primary school. Now a third-grader, Manman gets to stay close to Zou, who accompanies him throughout his school day.

Her commitment is rooted in her determination to protect her son from potential accidents. This has been even more the case since Manman had a minor collision with another student at kindergarten, which led to him having to visit the hospital as a portion of his skull was missing due to a tumor.

Zou adds that she also proactively teaches Manman how to handle discriminatory and negative comments. She explains to him that people’s reactions stem from a lack of understanding.

“But once they understand, and once they get to know you, everyone will surely like you,” she reassures him. She also often likens Manman’s condition to the genetic mutations that give superheroes like Spiderman their powers.

In traveling across the country searching for treatment, Zou has taken Manman on numerous trips, hoping to let him experience as much as possible given his prognosis and potential vision loss. “During his limited lifespan, I will take him to the farthest place we can go,” she says.

According to Zou, Manman also regularly attends rare disease charity events to champion awareness and support. His interactions with others facing unique challenges have helped him feel more connected and understood.

But most of the time, Zou, as a single mother, finds herself alone — a common scenario in the rare disease community, where the initial family support often wanes over time.

With Manman requiring constant care, Zou’s financial capabilities are stretched thin, making her reliant on her parents’ support. She sometimes labels herself as kenlaozu, which literally translates to “sponging off your parents” in English. “It’s not fair on my parents either, but we have no other option.”

For neurofibromatosis patients, the financial strain is significant despite the significant decrease in the price of the drug Koselugo from over 40,000 yuan to around 10,000 yuan per bottle since its inclusion in the national insurance list. “The total annual expenses for treatment, including medication and examination fees, is approximately 150,000 yuan,” she estimates.

Online, Zou says she is known for her upbeat and humorous approach to life, likening difficulties and crises to “fleeting clouds.” “Sometimes, I just wish my online avatar is the real one,” she says.

For Shi, the documentary’s producer, Zou and Manman’s journey may not represent all 20 million rare disease patients, many of whom frequently grapple with poverty and despair.

“Manman’s story, however, is like a fairy tale for patients and families dealing with rare diseases. We hope their story can help raise awareness for the 20 million patients in China with rare diseases,” says Shi.

As Zou continues her advocacy and support for the rare disease community, she often dreams of a future where Manman leads his own independent life. “He won’t ever need to support me,” she says.

Instead, she envisions herself living in a house with a small courtyard, where she can finally pursue her dreams — of becoming a broadcaster, an artist, or a lawyer.

Editor: Apurva.

(Header image: A still from the documentary “I Want You to Be Ordinary.” From @满满邹 on Weibo)

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