Rare Disease Day falls on February 29 this year, the last day in the second month of the year. The article shares the story of a girl who has confronted TSC (Tuberous Sclerosis Complex) with her mother for 15 yearsr in the rare disease community.
Due to suffering from a rare disease, Niuniu often needed diverse examinations at the hospital from a young age, according to the Amity Foundation. "Stick on the EEG electrode wires, and you become a long-haired princess with twenty-nine colorful hairs!" Whenever Niuniu was scared, her mother would comfort her in this way.
In 2009, 52 days after Niuniu's birth, frequent seizures occurred in her left hand and left foot, and she was eventually diagnosed with TSC. The incidence of this rare disease is about 1 in 10,000 to 1 in 6,000, causing tumors in varied parts of the brain, heart, kidneys, and lungs. The patient's facial skin lesions form nodules centered on the nose, like a butterfly knot in shape.
In a serious condition before the age of two, she experienced seizures sometimes even up to twenty or thirty times a day. Her mother, Yuan Bixia, took care of her daughter every step of the way.
"There is no hope if you give up, but as long as I persist, we will see hope," Yuan said.
To cover Niuniu's treatment expenses, her husband continued to work, while Yuan carried her daughter around the country to seek medical advice.
Experts recommended a foreign antiepileptic drug for Niuniu. After taking it, the frequency of seizures significantly decreased. However, this drug was not yet introduced on the mainland then, so Yuan had to travel to Hong Kong to purchase it.
When Niuniu was four years old, the examination report showed tumors in her kidneys. Under the guidance of a kidney specialist in the United States, in 2015, Yuan started Niuniu on mTOR inhibitors. In the third year of taking the medication, Niuniu's kidney tumors gradually decreased.
Last year's reexamination report showed that some tumors on Niuniu's body had disappeared, undoubtedly a "miracle" for them.
However, they need to pay more than four thousand yuan in medication expenses every month. Even after reimbursement from children's medical insurance, there are still additional expenses for comprehensive reexamination, which puts a heavy economic burden on the family.
After the reduction in seizure frequency, Yuan decided to send Niuniu to a regular kindergarten. Not accustomed to kindergarten at first, Niuniu was unable even to wear socks properly, with her corrective glasses often worn incorrectly. Whenever Niuniu came home from school, Yuan would encourage her to seek help from classmates to practice her social skills.
When Niuniu entered elementary school, to lighten the family's financial burden, Yuan went to work at an association. Due to her busy schedule, she often needed help to fetch Niuniu from school on time. Once, she was late due to work, and when she arrived at the school gate, five or six parents of Niuniu's classmates who knew she hadn't been picked up came to take Niuniu home for dinner.
At home, Niuniu often shared what happened at school with her mother. One time, she told Yuan that she had a seizure during a physical education class and accidentally fell. Six or seven classmates immediately ran over to help and escorted her to the medical room.
Now, Niuniu is in her third year of junior high school, but her logical thinking abilities still lag behind those of children her age due to the illness.
Regarding the upcoming senior high school entrance examination and the problem of choosing a high school, Yuan believes there are still significant challenges. It is an urgent social problem that rare disease patients can find jobs after recovery.
"Some rare disease patients have certain work abilities but miss job opportunities due to facial symptoms or occasional seizures."
Yuan Bixia revealed that many eligible rare disease patients not only face greater difficulties than ordinary people in job hunting but also often suffer from social prejudice and discrimination. She sincerely hopes that this rare disease community can receive more attention and acceptance from society.
Looking to the future, Yuan wishes to organize a personal exhibition for Niuniu to showcase the real growth process of rare disease children and arouse society's attention and support for this community.
In collaboration with the TSC China Alliance, the faith-based Amity Foundation initiates a comprehensive project targeting the nationwide TSC community. It provides academic support, national patient meetings, outpatient appointments, MTD (Modern Techniques in Differential Equations) remote discussions, disease popularization, genetic testing, psychological counseling, education funds, personnel development, and other services nationwide. Niuniu is one of the beneficiaries of the project.
- Translated by Abigail Wu
