National Taiwan University Hospital (NTUH) yesterday marked the 30th anniversary of its medical genetics department, saying that its outpatient services treating genetic and rare diseases were integrated and able to provide whole-person healthcare for patients afflicted with multiple disorders.
The department has been working with medical professionals both within and outside the hospital for the development of comprehensive care for patients with rare diseases, the hospital said.
For example, the department provided the world’s first newborn screening for Pompe disease — a progressive neuromuscular disorder — and has made the country Asia’s first to undertake early screening and detection of Niemann-Pick disease, an inherited metabolic disorder.
“Integrated outpatient services for patients with tuberous sclerosis complex (TSC) and Down syndrome, both multisystem disorders, are expected to set an example for other departments as well,” department chief Ni Yen-huuan (倪衍玄) said.
TSC is a rare genetic disease that causes the growth of noncancerous tumors in many parts of the body, including the brain, kidneys, heart, lungs, eyes, teeth and skin, leading to various health problems, attending physician of medical genetics Chen Pay-Long (陳沛隆) said.
“These patients need to be treated by doctors of different specialties,” Chen said.
“The hospital’s three-year-old Joint TSC Clinic has helped more than 140 patients with TSC, which is about one-third of the national number reported,” he said, adding that the disease’s prevalence is about 1 in 200,000 people.
The hospital’s integrated outpatient service for patients with Down syndrome, the most common chromosome condition in humans, was set up toward the end of last year.
“The mental challenges of the disease are what people are more familiar with, but the patients might also suffer from a range of problems, including impaired vision and hearing, and heart, endocrine, blood and gastroenterological problems,” department attending physician Lee Ni-chung (李妮鍾) said.
“Children with Down syndrome have a more-than-50-percent risk of congenital heart disease, for example, and are at higher risk of thyroid disorders and renal anomalies, among others,” she said. “When they get old, they are also more susceptible to early cataracts, menopause, osteoporosis and degenerative arthritis.”
These patients also need an integrated outpatient service for comprehensive care, Lee said.
“Children with Down syndrome can greatly benefit from early intervention, which can minimize the disease’s impact on their development,” Lee added.