She lost a baby patient 14 years ago as a junior doctor – now she fights to save others from rare diseases

She lost a baby patient 14 years ago as a junior doctor – now she fights to save others from rare diseases

7,600 hereditary conditions are known. Genetic problems are typically brought on by variations or modifications in the chromosomes that a person is born with.

These can be passed down from parents who have the same problem or who are genetically predisposed to a hereditary condition. According to Dr. Chin, they may also be a recent incident that neither parent has inherited.

Down syndrome and disorder, a more well-known unusual disease that affects tooth growth are two more well-known rare conditions. Additionally, there are Noonan symptoms and Turner syndrome, both of which can cause real differences such as little appearance, heart defects, and development or learning delays.

According to Dr. Chin, a rare disease can affect any physique part or system, including the heart, brain, vision, hearing, and brain.

Some diseases, such as inborn metabolic errors, where the body fails to effectively transform food into energy and causes a buildup of harmful substances, are discovered in young children. Singapore’s newborns are all screened for this, and affected children are given clinical milk formulas, unique diets, and medications.

CRACKING THE CODE FOR INTANGIBLE ANGELS

Several conditions can be challenging to identify because they are so unique and symptoms are frequently non-specific.

Some children are diagnosed in their first year of life, while others are only diagnosed afterwards, at the age of 15, 20, or even 30, according to Dr. Chin. Her eldest individual was in her sixties.