Sze Ka Yan

Rett Syndrome

Daughter with Rett Syndrome; Rapid Regression
Mom: "Waiting for the 3 little words"

“Ka Yan seems like a cocoon being bound inside. It’s very hard and difficult if the situation could not be released. We don’t understand her. That’s why she feels very hard and difficult and it is the same for us.” - Ka Yan's Mom

雷特氏症是甚麼？

罕見病「雷特氏症」（Rett Syndrome）是先天基因MECP2突變所致，是一種嚴重影響兒童精神運動發育的神經系統疾病，無法預防，也未有有效的治療方法。發病機率為1/10,000至1/12,000，多發生在女孩身上；很多在6至18個月大後出現，快速退化及發展遲緩，如智力下降、失去語言能力、動作控制失常、出現自閉症行為、腦癱、甚至肢體萎縮變形等。

主要病徵：

不斷搓手、癲癇、喪失語言能力、發育不良、脊柱側彎、睡眠障礙、便秘、不能自理等。

Other Causes

Only Two Cases Worldwide
Siblings combat rare disease with smiles

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

Ho Junjie
SSADH

Little Miss Sunshine: “No crying! No pain! I want to get better!”

Bux Hei Yau
Developmental Dysplasia of the Hip

Brothers with Mucopolysaccharides
The mother Just wants to hear her elder son say ‘Mummy’ again

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

Lai Kwan Yi
Spinal Muscular Atrophy

Skeletal Deformation and Scarred Organs
Boy with MPS: “I am not giving up!”

Chu Yat Long
Mucopolysaccharidoses Type VI

DMD Warrior: Your hug carries me through

Chen Tsz Kin
Duchenne Muscular Dystrophy

Treading the line between Life and Death
Aspiring 13-year-old Writer with SMA

Yiu Sum Yuet
Spinal Muscular Atrophy Type 1

Two fingers left – Girl with SMA fights to live to the fullest

Josy Chow
Spinal Muscular Atrophy

Girl with TSC gives back to society through painting

Michelle Lam
Tuberous Sclerosis Complex

Forever Smiley Little Angel

Chloe Chan
Angelman Syndrome

At death’s door: “Son, I’ll take care of you till the very end”

Edward Young Kwan Lam
Duchenne Muscular Dystrophy

Boy with Muscular Dystrophy, “Let him live for as long as he can”

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

Tse Cheuk Yau
Spinal muscular atrophy type 2

Semi-paralyzed girl with a rare spinal glial tumor loves to adventure

Yeung Ka Ying
spinal glial tumor

Rare Disease Boy with Glaucoma Facing Darkness
Mother Overcomes Depression to Illuminate Her Son's

Lam Pok Yin
Rubinstein-Taybi disease (RSTS)

"Rare Disease X File: Girl Becomes Multiply Disabled Over Three Years

Hester Chan
Unknown rare disease

母子同病變無懼連環醫療失誤勇抗不治症

Wong Wai Lung
ATAD3A

放棄自殺小腦萎縮青年：「我選擇生存！」

曾錦源
小腦萎縮症

「拇指姑娘」需日打激素醫生難料成長變數

羅紫羽
羅素西弗氏症

透視罕見病：黏多醣症(一) 長不大的小飛俠勇抗退化惡疾

蕭曉進
黏多醣症四型

思想被困身軀腦癱少女說不出的抉擇人生

陳家琦
徐動型腦癱(徐動型腦麻痹)

肌萎港大畢業生認病不認輸

蔣衞錕
杜興氏肌肉營養不良症

無力揹水樽難阻飛翔夢

莫皓翔
脊柱側彎症