Yuan Bixia (L) and her daughter Niuniu who suffers the Tuberous Sclerosis Complex (TSC), a rare genetic disorder characterized by the growth of noncancerous (benign) tumors in multiple organs of the body.Daily Sunshine

A rare disease, sometimes referred to as an orphan disease, is any disease that affects a small percentage of the general population. Though classified as rare, these diseases impact a surprisingly large number of people and present significant challenges to millions of patients and their families.

In China, over 20 million people grapple with rare diseases, with a staggering 200,000 new cases diagnosed annually. Unseen by many, countless patients fight battles with rare diseases in their everyday lives.

Rare Disease Day, observed annually on the last day of February, is the official awareness-raising campaign for rare diseases.

Never giving up

In 2009, Niuniu was diagnosed on the 52nd day after birth with Tuberous Sclerosis Complex (TSC), a disease that affects only about 1 in 6,000 to 10,000 people. Though devastated, her mother Yuan Bixia embarked on a fierce journey to fight this rare disease alongside her daughter.

"If you give up, there is no hope, but as long as you persist, you will definitely see hope," Yuan said. She reached a consensus with her husband and they did their best to save their daughter.

Subsequently, Yuan resigned from work so she could better take care of her daughter. Before Niuniu turned 2 years old, her condition was very serious, and she would experience upwards of 20-30 seizures per day.

In order to cover Niuniu's medical expenses, Yuan's husband continued to work while she single-handedly took Niuniu across the country in search of medical treatment. Through unremitting efforts, Yuan finally secured a vital appointment at the end of 2011 with American TSC expert Dr. David Franz. A medication prescribed by Dr. Franz offered hope for Niuniu.

However, the medicine was not yet available on the mainland at that time, and Yuan was required to go to Hong Kong to purchase it.

Although Niuniu's condition gradually improved after taking mTOR inhibitors since 2015, the high cost of the medication became a heavy burden on the family because TSC was not covered by national medical insurance.

"Niuniu's treatment involves long-term medication, and the cost is expected to climb with age," said Yuan, who has remained firmly supportive to her daughter.

Now that Niuniu is in the third year of junior high school, her logical thinking ability lags behind that of children of the same age due to her illness. 

Facing the upcoming senior high school entrance examination and school selection issues, Yuan believes that great challenges still lie ahead for them.

The phenomenon of school selection among Chinese students is characterized by the practice of parents actively striving to secure better educational resources for their children amidst stiff competition.

Insurance cuts health care costs

The cost of drug development and drug prices for rare diseases are high. How to afford these drugs has always been a big concern for patients with rare diseases. 

The Shenzhen Municipal Healthcare Security Bureau has worked to establish a rare disease medication security mechanism combining basic medical insurance, major disease insurance, and Shenzhen welfare insurance, which helps greatly reduce the medication burden on rare disease patients.

According to Michael To, deputy director of the rare disease medical center (preparatory) at the University of Hong Kong-Shenzhen Hospital, clinical cases of rare diseases are already rare, and some rare disease patients give up on treatment due to concerns about medical costs.

"I saw many patients with rare diseases who had to reduce their medication frequency and even give up treatment due to high drug prices. It made me feel very sad," To said, adding that it often takes several years to more than a decade for rare disease patients to go from consultation to being diagnosed.

However, efforts have been made to expand the medical insurance coverage of rare diseases to reduce the medication burden for more rare disease patients.

"An obvious change that can be felt is that rare disease patients in Shenzhen are becoming less afraid of seeing a doctor and receiving treatment, and more clinical cases, and doctors' diagnostic and treatment skills are constantly improving in the process," To said.

According to the city's healthcare security bureau, Shenzhen has granted basic medical security benefits for all rare disease drugs included in the national medical insurance drug catalog. 

For example, Sprinraza, or nusinersen sodium injection, which is used to treat children and adults with spinal muscular atrophy (SMA), used to be priced at 700,000 yuan (US$97,500) per injection. 

Later, the drug was included in national medical insurance coverage, and its price has been reduced to about 33,000 yuan per injection through price negotiations.

Shenzhen's basic medical insurance can reimburse 90% of the cost, which reduces the cost of each injection to approximately 3,000 yuan. 

According to the bureau, 537 injections had been given to SMA patients as of the end of this February.

In 2021, Shenzhen implemented an outpatient-specific disease policy, which included seven rare diseases like hemophilia, pulmonary hypertension, and multiple sclerosis in outpatient-specific disease treatment.

The higher reimbursement ratio, a maximum of 90%, can reduce the financial burden of nearly 2,800 patients in the city by 150 million yuan annually, according to the bureau.

In October 2023, Shenzhen added serious illness insurance in addition to basic medical insurance, providing secondary reimbursement for high medical expenses of insured patients, further reducing the burden of medical expenses on rare disease patients.