Soonchunhyang University Bucheon Hospital improves patients' quality of life with timely treatment for rare diseases
Aug 14, 2024
The rare disease clinic at Soonchunhyang University Bucheon Hospital is leading the way in timely treatment and quality of life for rare disease patients with specialized diagnostic equipment and multidisciplinary treatment systems.
A 14-day-old patient A was referred to a rare disease clinic at Soonchunhyang University Bucheon Hospital after positive findings in a screening test for congenital metabolic abnormalities. As a result of amino acid and organic acid analysis and genetic testing after admission to the neonatal intensive care unit, it was diagnosed as 'propionic acidemia', one of the organic acidemia. Propionic acidemia is a disease caused by a lack of enzymes that naturally break down certain proteins. Without proper treatment, sagging, vomiting, loss of appetite, and dehydration appear, and in severe cases, convulsions and coma can be life-threatening.
Patient A developed hypoglycemia and hyperammoniaemia and was hospitalized, and is currently treated with strict dietary control and expensive treatment 'Cabaglu' through special formula and low protein diet. Although there were various difficulties, it is currently developing normally thanks to the accurate diagnosis and rapid treatment of the rare disease clinic at Soonchunhyang University Bucheon Hospital.
Shin Young-rim, professor of pediatric and adolescent department at Soonchunhyang University Bucheon Hospital (director of rare disease clinic), said "Due to the expansion of neonatal screening examination benefits, several newborns are visiting rare disease clinics as suspected symptoms, and are receiving professional diagnosis and treatment. However, many rare diseases are yet to be mistaken for other diseases or find the cause quickly, and they often progress to severe disease due to delayed early treatment.
According to the Korea Centers for Disease Control and Prevention, 1248 rare diseases subject to national management were designated as of 2024. More than 80% of rare diseases are hereditary, and most of them can start symptoms and worsen rapidly in childhood and adolescence, so accurate early diagnosis and prompt treatment are important.
Accordingly, the rare disease clinic at Soonchunhyang University Bucheon Hospital operates a one-stop system that organically connects treatment request, diagnosis, and treatment plan establishment. If you request medical treatment through a medical cooperation center and a call center, a nurse in charge of rare diseases will consult with patients and guardians to guide them to receive appropriate treatment. Patients who have difficulty in diagnosis due to complex symptoms can also receive systematic and precise medical services from the initial diagnosis as a 'deep examination pilot project institution'.
Another strength is the customized integrated treatment approach. A specialized team of medical staff, nurses, and nutritionists establishes a treatment plan for each patient's condition, and provides health care guidelines and nutrition counseling. Considering the characteristics of rare diseases that are not limited to a single disease, specialized medical staff from various medical departments such as pediatrics, neurology, internal medicine, dermatology, obstetrics and gynecology, orthopedics, psychiatry, rehabilitation medicine, and diagnostic laboratory medicine are also cooperating to operate a multidisciplinary treatment system.
The abundant medical experience and efforts are leading to the trust of patients with rare diseases.
Suncheonhyang University Bucheon Hospital was designated as a nursing institution for diagnosing rare, extreme, and other chromosomal abnormal diseases by the Ministry of Health and Welfare for the first time in northwestern Gyeonggi Province in 2016. Very few patients with rare diseases, such as congenital malformations, diseases accompanied by nervous system and musculoskeletal abnormalities, metabolic abnormalities, and diseases that invade various organs and cause symptoms, are provided through professional treatment and multidisciplinary management for each disease.
Professor Shin Young-rim "As patients with rare diseases often need long-term treatment and management, it is important to establish a trust relationship with patients. We are trying to carefully examine the patient's condition and sometimes be an emotional supporter.'
The nation's best screening test system for congenital metabolic disorders also attracts attention. Using a high-performance liquid chromatography-double mass spectrometer, it quickly and accurately diagnoses more than 70 rare metabolic diseases such as amino acid, organic acid, and fatty acid metabolic abnormalities, severe complex immunodeficiency, and X-associated adrenal protein dystrophy. Immunoassay equipment is also used to screen for congenital hypothyroidism, congenital adrenal hyperplasia, and galactosemia. In addition, almost all types of rare diseases can be smoothly diagnosed through screening for lysosomal accumulation diseases, advanced chromosome tests, dielectric tests, and enzyme analysis tests.
Lee Yong-hwa, head of the department of diagnostic laboratory medicine at Soonchunhyang University Bucheon Hospital, said "We have established a close cooperation system with rare disease clinics to ensure prompt diagnosis and treatment through re-examination and additional examination if abnormal results are found in screening tests."."
Professor Shin Young-rim "With advances in medical technology, treatment was difficult in the past, but recently, there have been many diseases that can be managed enough to enable daily life. We will continue to do our best to improve the quality of life for patients with rare diseases through medical treatment and continuous research."
Meanwhile, the rare disease clinic at Soonchunhyang University Bucheon Hospital provides professional genetic counseling for rare patients and provides opportunities to participate in clinical research. In addition, we are working to improve the quality of life of patients by linking various support programs such as registration of special cases for calculating rare diseases, medical social welfare counseling, and national medical expenses support projects.
A 14-day-old patient A was referred to a rare disease clinic at Soonchunhyang University Bucheon Hospital after positive findings in a screening test for congenital metabolic abnormalities. As a result of amino acid and organic acid analysis and genetic testing after admission to the neonatal intensive care unit, it was diagnosed as 'propionic acidemia', one of the organic acidemia. Propionic acidemia is a disease caused by a lack of enzymes that naturally break down certain proteins. Without proper treatment, sagging, vomiting, loss of appetite, and dehydration appear, and in severe cases, convulsions and coma can be life-threatening.
Patient A developed hypoglycemia and hyperammoniaemia and was hospitalized, and is currently treated with strict dietary control and expensive treatment 'Cabaglu' through special formula and low protein diet. Although there were various difficulties, it is currently developing normally thanks to the accurate diagnosis and rapid treatment of the rare disease clinic at Soonchunhyang University Bucheon Hospital.
Shin Young-rim, professor of pediatric and adolescent department at Soonchunhyang University Bucheon Hospital (director of rare disease clinic), said "Due to the expansion of neonatal screening examination benefits, several newborns are visiting rare disease clinics as suspected symptoms, and are receiving professional diagnosis and treatment. However, many rare diseases are yet to be mistaken for other diseases or find the cause quickly, and they often progress to severe disease due to delayed early treatment.
According to the Korea Centers for Disease Control and Prevention, 1248 rare diseases subject to national management were designated as of 2024. More than 80% of rare diseases are hereditary, and most of them can start symptoms and worsen rapidly in childhood and adolescence, so accurate early diagnosis and prompt treatment are important.
Accordingly, the rare disease clinic at Soonchunhyang University Bucheon Hospital operates a one-stop system that organically connects treatment request, diagnosis, and treatment plan establishment. If you request medical treatment through a medical cooperation center and a call center, a nurse in charge of rare diseases will consult with patients and guardians to guide them to receive appropriate treatment. Patients who have difficulty in diagnosis due to complex symptoms can also receive systematic and precise medical services from the initial diagnosis as a 'deep examination pilot project institution'.
Another strength is the customized integrated treatment approach. A specialized team of medical staff, nurses, and nutritionists establishes a treatment plan for each patient's condition, and provides health care guidelines and nutrition counseling. Considering the characteristics of rare diseases that are not limited to a single disease, specialized medical staff from various medical departments such as pediatrics, neurology, internal medicine, dermatology, obstetrics and gynecology, orthopedics, psychiatry, rehabilitation medicine, and diagnostic laboratory medicine are also cooperating to operate a multidisciplinary treatment system.
The abundant medical experience and efforts are leading to the trust of patients with rare diseases.
Suncheonhyang University Bucheon Hospital was designated as a nursing institution for diagnosing rare, extreme, and other chromosomal abnormal diseases by the Ministry of Health and Welfare for the first time in northwestern Gyeonggi Province in 2016. Very few patients with rare diseases, such as congenital malformations, diseases accompanied by nervous system and musculoskeletal abnormalities, metabolic abnormalities, and diseases that invade various organs and cause symptoms, are provided through professional treatment and multidisciplinary management for each disease.
Professor Shin Young-rim "As patients with rare diseases often need long-term treatment and management, it is important to establish a trust relationship with patients. We are trying to carefully examine the patient's condition and sometimes be an emotional supporter.'
The nation's best screening test system for congenital metabolic disorders also attracts attention. Using a high-performance liquid chromatography-double mass spectrometer, it quickly and accurately diagnoses more than 70 rare metabolic diseases such as amino acid, organic acid, and fatty acid metabolic abnormalities, severe complex immunodeficiency, and X-associated adrenal protein dystrophy. Immunoassay equipment is also used to screen for congenital hypothyroidism, congenital adrenal hyperplasia, and galactosemia. In addition, almost all types of rare diseases can be smoothly diagnosed through screening for lysosomal accumulation diseases, advanced chromosome tests, dielectric tests, and enzyme analysis tests.
Lee Yong-hwa, head of the department of diagnostic laboratory medicine at Soonchunhyang University Bucheon Hospital, said "We have established a close cooperation system with rare disease clinics to ensure prompt diagnosis and treatment through re-examination and additional examination if abnormal results are found in screening tests."."
Professor Shin Young-rim "With advances in medical technology, treatment was difficult in the past, but recently, there have been many diseases that can be managed enough to enable daily life. We will continue to do our best to improve the quality of life for patients with rare diseases through medical treatment and continuous research."
Meanwhile, the rare disease clinic at Soonchunhyang University Bucheon Hospital provides professional genetic counseling for rare patients and provides opportunities to participate in clinical research. In addition, we are working to improve the quality of life of patients by linking various support programs such as registration of special cases for calculating rare diseases, medical social welfare counseling, and national medical expenses support projects.
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