Kan Yan (30 Years old)
Rett Syndrome
​"Ka Yan seemed perfectly healthy when she was born," her mother began. "It wasn't until she was about a year old that we started noticing something was different."
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Ka Yan's parents described the first signs - unusual hand movements. They initially thought that these hand movements were just a quirk that would eventually disappear, but as time went on, these movements increased, and more concerning changes appeared. Ka Yan stopped calling her parents "Mom" and "Dad," and started calling them "brother" and "sister." It was a confusing shift that signaled to Ka Yan's parents that something more significant was happening.
"Twenty years ago, we didn't know what to expect," her father shared. "They told us she might live until her 30s, and that was hard to process."
Medical advancements have changed the landscape for Rett syndrome patients. "Now we hear about patients in other countries living into their 50s or 60s," her mother said. Ka Yan is now the oldest Rett syndrome patient in Hong Kong, while the youngest is a recently diagnosed two-year-old.
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Ka Yan's story demonstrates 30 years of resilience and strength. Her family has continuously faced countless challenges over the past 3 decades, but they have adapted and persevered through the obstacles life has thrown at them.
Home Visit - Ka Yan
Things to Pay Attention to When Caring for Ka Yan
"Ka Yan can understand quite a bit, but expressing herself is a struggle. She can think clearly, but it takes her a long time to get her thoughts out." Being patient and giving Ka Yan the time she needs to communicate is very important when interacting with her.
The Help of Music
Music is a crucial element in Ka Yan's life, helping Ka Yan emotionally when she is feeling depressed or worried. "We always play children's songs during mealtimes," Ka Yan's father said. "She used to love 'Doraemon.' We bought all the song albums and cartoon series, and she would listen and watch them quite often. She even learned to press the buttons to play them herself."
How to Express Herself?
Sleep is another challenge for Ka Yan and her family as Rett syndrome patients typically only need 2-3 hours of sleep per night. "She often wakes up at two or three in the morning," her mother shared. "At first, we'd try to ignore it, hoping she'd go back to sleep. But she'd get up repeatedly, walking out to get her shoes. It was her way of telling us she wanted to go out."
Difficulties Encountered Before and After Diagnosis
Ka Yan's journey to diagnosis was very long and confusing. Ka Yan's parents noticed her abnormal hand-wringing early on, but it didn't align with her otherwise normal development. "Her preschool teacher thought she was nervous," her father recalled. "We consulted various doctors, tried traditional Chinese medicine, and even traveled to different cities to find an answer."
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Trying acupuncture and expensive herbal remedies, nothing could explain or treat Ka Yan's symptoms. It wasn't until she was eight or nine that a doctor finally recognized Ka Yan's symptoms to be signs of Rett syndrome, which was later confirmed through genetic testing.
"Initially, we had no clear direction or treatments available," her mother admitted. "We felt even more lost as her condition deteriorated." Ka Yan's father also expressed growing concern about his daughter's future care, acknowledging that as he and his wife age, the physical demands of caregiving will only continue to become more challenging.
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In 2012, a turning point came when Ka Yan connected with another family in Hong Kong facing similar challenges. This led to the establishment of the Hong Kong Rett Syndrome Association.
What methods are used to slow down deterioration?
While there isn't a cure, Ka Yan's family tries to focus on managing her symptoms through different types of therapy. Ka Yan receives medication for seizures, along with occupational and physical therapy to maintain hand function and prevent further decline. Like many Rett syndrome patients, Ka Yan also faces challenges with scoliosis, so she wears a supportive back brace. Her physical therapy includes climbing exercises and walking assistance. To manage muscle stiffness, Ka Yan's parents help her with stretching exercises and use therapeutic tools like yoga balls to try to slow down her condition's progression.
Government Support for Rare Diseases
Ka Yan's family explained that while basic services exist for intellectual impairments and seizure disorders, there's no specialized support system for rare diseases. Ka Yan's parents also noted a concerning trend where therapeutic services decrease with age - while Ka Yan received weekly therapy in her youth, she does not get any additional government support at her current dormitory residence.
What is the most direct help?
When discussing urgent needs, Ka Yan's parents emphasized the financial burden of Ka Yan's care. Each specialized therapy session costs approximately $1,000 HKD. Ka Yan requires constant assistance even for basic movements and stretches, which makes regular therapy crucial. However, because of how expensive these sessions are, Ka Yan's parents are unable to afford frequent sessions, which has impacted her progress.
Ka Yan's care needs extend beyond physical therapy to include various medications - psychiatric medications for emotional regulation, mood stabilizers, and dietary supplements, etc.
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Ka Yan's parents' ultimate priority is maintaining Ka Yan's health and comfort for as long as possible. Recently, Ka Yan's curved posture has been affecting her heart and lung function, so every intervention at the moment is focused on enhancing her quality of life.