Thumbelina - Law Tsz Yu

Hans Christian Andersen's "Thumbelina" is tiny and delicate; some use her to describe patients with Russell-Silver syndrome, a rare disease characterized by developmental delays and small stature.

However, in real life, they also face limb length discrepancies, scoliosis, feeding difficulties, and more.
For example, Tsz-yu has to inject growth hormones daily, facing side effects... until adulthood.
Her mother cries, "Just being able to maintain her (Tsz-yu's) normal nutrition and normal growth already makes me very happy."

Congenital Developmental Delay: Mother's Thoughtful Efforts to Feed

As soon as the Lifewire team entered Tsz-yu's home, they saw her sitting on the sofa with puffed cheeks. Her mother had prepared lunch, but Ziyu showed no interest, causing her mother a headache. Law Tsz-yu, an 8-year-old in Primary 3, looks like a 6-year-old. "Looking back at my elder daughter (Tsz-yu)'s growth curve when she was a baby, I feel so emotional. Why didn't she grow at all?" her mother sighed while preparing a nutritional shake for Tsz-yu. She compared Tsz-yu's and her younger brother's (2 years old) infant growth data and found that it took Tsz-yu a month to catch up to her brother's one week of growth.

"Short stature, developmental delay, asymmetrical limbs, scoliosis, feeding difficulties..." Russell-Silver syndrome is named after the two doctors who discovered and publicized it. About 60% of patients develop the disease due to chromosomal genetic abnormalities, while the cause for 40% remains unknown. Outsiders do not understand Tsz-yu's condition and always assume she is a picky eater, unaware that these are symptoms of the disease. Patients often experience constipation and lack of appetite.

Rare Cases, Difficult Diagnosis, Delayed Treatment

Tsz-yu weighed only 2.155 kilograms at birth. Seeing her small stature, her mother took her to nutrition and pediatric departments, but doctors couldn't find the problem and could only write referral letters and wait for appointments. In desperation, a friend introduced her to a pediatric expert in Guangzhou. After spending nearly 5,000 yuan on blood tests, it was discovered that Tsz-yu had Russell-Silver syndrome, a disease with an incidence rate of only 1 in 30,000 to 100,000.

In fact, Tsz-yu had already been tested for this condition before seeking treatment in Guangdong, but it was not detected. It wasn't until she returned to Hong Kong and waited for an appointment that the doctors finally arranged another examination, a delay of over a year. Her mother described the process as lengthy, "Actually, I've seen some fellow parents whose children started treatment when they were two or three years old." "Tsz-yu only started treatment at four years old, I was already late. So at that time, I was bothered by why it could be delayed for so long. A year makes a huge difference in a child's growth." Half a year after the interview, Tsz-yu's height is still 13 centimeters shorter than the median height of 132 centimeters for 9-year-old girls in the "Chinese University of Hong Kong 1993 Growth Survey."

Unpredictable Disease Progression, Bottomless Pit of Medical Expenses

The mother is currently a full-time caregiver for Tsz-yu and her younger brother. In addition to painstakingly managing their diet, she also has to take Tsz-yu for regular follow-up appointments. In the month of the interview, Tsz-yu had already had three follow-ups, including treatment for ADHD, orthopedics, and endocrinology; in addition to medication to improve attention, orthopedic doctors regularly monitor bone growth, to ensure timely treatment if conditions like limb length discrepancy are found.

Tsz-yu also needs daily growth hormone injections, with the dosage determined by the endocrinology department, to improve body proportion, motor function, appetite, and reduce the risk of hypoglycemia. "Headaches, leg pains, I've experienced these side effects before with the injections, and then the dosage was reduced for a period and gradually increased again." Besides immediate side effects, long-term growth hormone injections can also lead to central precocious puberty and insulin resistance.

"Actually, why this disease is rare is because even doctors cannot predict what will happen as she slowly grows..." The mother said that the dosage of growth hormone injections will increase with Tsz-yu's age, and the cost will also become increasingly significant: it used to be over three thousand yuan a month, but now it has increased to nearly five thousand yuan, like a bottomless pit. The mother said that growth hormone injections must continue until Tsz-yu reaches adulthood and stops growing. "This disease is lifelong, I really don't dare to think about the future..."

Financial Hardship, "N-no income" Families Struggle for Assistance

Tsz-yu, who grew up in a grassroots family, relies on her father, who works in a restaurant, for the family's livelihood. Besides rent, the biggest expenses are Tsz-yu's medicine and nutritional supplements like milk powder and probiotics: "She usually eats very little, so I try everything. The reason I give her milk powder is to supplement her nutrition through liquids. The nutritionist also said not to stop!" She has sought help from other charitable organizations, but the food bank's policies make it difficult to assist patients with rare diseases, so she can only pay out of her own pocket.

"If I had money, I would definitely buy better food for her (Tsz-yu) so she could absorb more. But now, even ordinary milk powder costs over a hundred dollars a can. If it's a good brand, it's three to four hundred dollars a can, and we need four cans a month." The mother choked up, explaining that with the added expenses of her youngest son's milk powder and diapers, the family simply cannot afford "good" milk powder.

"I really want her to absorb as much as possible, because the less she eats, the worse her bodily functions become, and gradually many other health problems will arise. I've seen online that some children with poor appetite who can't absorb nutrients have shorter lifespans. The more I read, the more scared I become."

In early 2022, Tsz-yu's family moved from a subdivided flat in Sham Shui Po to a transitional housing unit built by a non-profit organization, while waiting for public housing. Although the rent was slightly higher than the subdivided flat, her mother admitted that the old neighborhood had a complicated environment, with people doing drugs downstairs and syringes in the stairwell. Moreover, Tsz-yu's condition requires more exercise, but in the subdivided room, there wasn't even space to turn around. Now, at least, they can provide a better growing environment for their two children.

They thought moving out of the bad environment would greatly improve their lives, but then the fifth wave of the pandemic hit, and prevention policies severely impacted the catering industry. Her father lost his job and was owed wages, leaving them without income. Her mother felt helpless: "That place went out of business, how could they pay you! They even told you to report it to the Labour Department yourself, they weren't afraid!" She considered applying for comprehensive social security assistance (CSSA), but didn't want to just wait for government help. After calculating the family's expenses, including Tsz-yu's medical costs, CSSA would not be enough, so her father continued to desperately look for work.

Caregiver Stress: Ununderstood by Outsiders

“It's not just for a month or two, but a chronic illness, so the expenses are huge.” During the interview, the mother often cried emotionally. The father works 11 hours a day, with only one day off a week, and she handles all household chores alone. Even when the father is off, he needs to catch up on rest. She admitted that during the father's unemployment, the family's stress increased significantly, and the couple often had conflicts.

"Actually, I really want him (dad) to spend more time with the children, but it's difficult." Overwhelmed by the pressure of life, wanting to take the family out for a meal or a movie, just to catch a breath, is incredibly difficult. "All my attention is on the two kids, and my husband spends all his time working. For families like ours, it's hard to have more time for entertainment as a family."

"Did I do something wrong to give her such a life?" The mother has always felt guilty, feeling she owed her daughter. Although doctors explained that the parents' genes were fine, Tsz-yu's illness remained a deep heartache for her, and she even suffered from depression, needing medication to control her emotions during severe periods. However, to ensure Tsz-yu would have someone to accompany and care for her in the future, the couple decided to have another child. Although she worried that her youngest son might also be ill during pregnancy, her depression worsened at one point, but ultimately, she was relieved that her youngest son was healthy.

Fear of Being Labeled Makes the Path Difficult, Daring Not to Disclose

"Actually, I don't want her to know (about her illness)." Before being interviewed by Lifewire, the mother struggled with whether to accept the interview because she was afraid of negative criticism. "Good feedback is certainly welcome, but I don't want her to encounter negative voices during her growth that would create lifelong psychological pressure."

In fact, on Tsz-yu's first day of school, she found the weight of her backpack too heavy. Her mother immediately informed the school to arrange someone to carry her backpack and allow her to use the elevator. Her mother admitted that sometimes uninformed people would ask why Tsz-yu hadn't grown taller or was thinner than her brother, and she dared not reveal her daughter's illness, fearing she would be labeled, making her future path even more difficult.

Escaping Poverty is Difficult, Only Wishing for Healthy Growth

"I actually really want her to grow up healthy like a normal child. Since I can't achieve that, I can only do as much as I can normally." One of the symptoms of Russell-Silver syndrome is learning disabilities, which affects Tsz-yu's academic performance. With online learning during the pandemic, it's even harder to catch up on studies.

"Even a basic tutoring class costs over two thousand dollars, which I cannot afford, so I don't even dare to consider it." The transitional housing they currently live in can only be occupied for a maximum of three years. If they haven't "moved up" to public housing by then, the family will have to make other arrangements. With tight finances, the mother can only squeeze out time to read books with Tsz-yu and her brother, hoping it helps their studies.

"You have to tell her (Tsz-yu) a sentence five or six times before she understands it. You need a lot of patience, but this kind of patience... it's truly exhausting, with both of them (the two siblings)."

Listening with Care Melts the Little Princess

Patients with Russell-Silver syndrome often have low self-esteem or feel inferior due to their frail and small stature. Her mother also mentioned that Tsz-yu lacks confidence and only plays with familiar classmates at school. During school closures, it became even harder for her to learn to interact with other children.

During the interview, Tsz-yu and her brother often teased and played with each other, and Tsz-yu clung to her mother, acting spoiled. Initially slow to warm up, she eventually let down her guard with the Lifewire team and actively played with us. Seeing the two siblings running around the house playing with a ball, her mother said that even when stuck at home, she tries to let Tsz-yu exercise as much as possible, which is beneficial for both her growth and psychological well-being. "Sometimes I play music and tell them to dance, letting her get some exercise."

"It's enough for me if she can grow normally and have a normal body," her mother said, wiping away tears. "Not to mention her getting married and having children, I just hope she can learn a skill and be self-reliant in the future, and not have any illnesses. I just want something that simple, and it's enough."