Michelle Lam

Tuberous Sclerosis Complex

Girl with TSC gives back to society through painting

「瑤瑤平時好鍾意講「媽咪，我好錫你」，希望佢可以清楚表達自己嘅意願！」- 瑤瑤媽媽

結節性硬化症是甚麼？

結節性硬化症（Tuberous Sclerosis Complex，簡稱TSC）屬罕見病，部分是遺傳自父母，部分是基因突變所致。患者體內控制細胞生長的蛋白質mTOR失控，細胞過度激生，會在腦、心臟、肺、脾、腎、皮膚等部位形成腫瘤。主要病徵有癲癇、抽筋、器官功能衰竭等，皮膚或會長出纖維瘤硬塊。目前未有方法根治，但可藉「抽筋藥」或「mTOR抑制劑」控制病情。

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

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

Sze Ka Yan
Rett Syndrome

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