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

母子同病變無懼連環醫療失誤勇抗不治症

Wong Wai Lung
ATAD3A

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

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

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