ABOUT THE BOOK
To read the book, click HERE
For physical copy of the book email nikkihmlee@hotmail.com
ABOUT THE AUTHOR
Nikki Lee, the self-published author of Alagille Girl, is an Australian-born Malaysian Chinese. She lives in Australia. In 1992, she was born and diagnosed with a rare condition called Alagille Syndrome and for Nikki, it affects her liver, her heart, her bones, vision, hearing, learning pace and physical development. And because of her disabilities and multiple medical conditions, it has also affected her personally, emotionally, socially and spiritually. Despite all this, Nikki’s faith in God has kept her going and in December 2023 she self-published her book, writing about her life, faith and living with Alagille Syndrome in hopes to bring comfort, encouragement, and God’s love to as many people as possible.
ABOUT ALAGILLE SYNDROME
Alagille Syndrome is a rare genetic disorder that primarily and firstly affects the liver function, it can also affect the heart, kidneys, eyes, bones, facial features and more. It is most commonly caused by the mutations of the JAG1 gene, and less often in NOTCH2, which play a role in the Notch signaling pathway, essential for normal tissue development. It is typically autosomal dominant, meaning one copy of the faulty gene from either parent can cause the disorder.
Some key medical features of Alagille Syndrome includes liver problems (bile duct abnormalities), heart defects (pulmonary stenosis), distinctive facial features (broad forehead, deep set eyes, pointy chin), skeletal abnormalities (butterfly-shaped vertebrae), eye abnormalities (posterior embryotoxon), growth delays, possible kidney issues and more.
Alagille Syndrome is a rare condition you’re usually born with, that affects how some parts of your body grow and work, like the liver and heart. It can cause yellowing of the skin , heart murmurs, certain facial features, slow growth and so on.
For more information about Alagille Syndrome, click HERE