Lam Pok Yin
Rubinstein-Taybi disease (RSTS)
Rare Disease Boy with Glaucoma Facing Darkness
Mother Overcomes Depression to Illuminate Her Son's
“What's the next stop?”
“The next stop is Long Ping, followed by Tin Shui Wai, Siu Hong…”
In the West Rail line, 11-year-old Pok Yin doesn’t lift his head, reading out the stations in his mind one by one.
He has memorized the route by heart, all because his mother, Lam, takes care of him, her son who has the rare disease RSTS Rubinstein-Taybi Syndrome. She wants her son, who is nearly blind with 1900-degree myopia, to be prepared for the future: “Even if he can’t see anything in the future,
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Patients with Rubinstein-Taybi Syndrome have enlarged thumbs and big toes, which is why it is also referred to as 'Broad Thumb Syndrome.' Patients may experience intellectual disabilities, growth delays, abnormalities in the heart, lungs, and skeleton, cryptorchidism, epilepsy, short stature, and hypotonia. There is also a higher likelihood of developing tumors, lymphoma, or leukemia.
Other Causes
Only Two Cases Worldwide
Siblings combat rare disease with smiles
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Chen Yau Chun, Chan Ka Wa
Hereditary Spastic Paraplegia
Nonstop Spasms, Sleep Apnea 80 times an Hour
Every night is a miracle for boy with SSADH
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Ho Junjie
SSADH
Little Miss Sunshine: “No crying! No pain! I want to get better!”
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Bux Hei Yau
Developmental Dysplasia of the Hip
Brothers with Mucopolysaccharides
The mother Just wants to hear her elder son say ‘Mummy’ again
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Hui Wai cheung, Hui shing hao
Mucopolysaccharidosis IIIA
Estimated 4 years Left to Live
14-year-old “Dream Chaser” won’t let SMA stop her
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Lai Kwan Yi
Spinal Muscular Atrophy
Skeletal Deformation and Scarred Organs
Boy with MPS: “I am not giving up!”
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Chu Yat Long
Mucopolysaccharidoses Type VI
DMD Warrior: Your hug carries me through
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Chen Tsz Kin
Duchenne Muscular Dystrophy
Treading the line between Life and Death
Aspiring 13-year-old Writer with SMA
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Yiu Sum Yuet
Spinal Muscular Atrophy Type 1
Two fingers left – Girl with SMA fights to live to the fullest
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Josy Chow
Spinal Muscular Atrophy
Girl with TSC gives back to society through painting
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Michelle Lam
Tuberous Sclerosis Complex
Daughter with Rett Syndrome; Rapid Regression
Mom: "Waiting for the 3 little words"
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Sze Ka Yan
Rett Syndrome
Forever Smiley Little Angel
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Chloe Chan
Angelman Syndrome
At death’s door: “Son, I’ll take care of you till the very end”
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Edward Young Kwan Lam
Duchenne Muscular Dystrophy
Boy with Muscular Dystrophy, “Let him live for as long as he can”
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Lok Chun-Ting
Muscular Dystrophy and Neurological Disorder
The Spinal Muscular Atrophy Girl: Soaring Against the Wind on Wheels
The Power of Three Fingers: P
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Tse Cheuk Yau
Spinal muscular atrophy type 2
Semi-paralyzed girl with a rare spinal glial tumor loves to adventure
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Yeung Ka Ying
spinal glial tumor
"Rare Disease X File: Girl Becomes Multiply Disabled Over Three Years
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Hester Chan
Unknown rare disease
母子同病變 無懼連環醫療失誤 勇抗不治症
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Wong Wai Lung
ATAD3A