Navigating Rare Disease: Caring for My Son with Osteogenesis Imperfecta
Waiting for genetic testing results? My son is five and a half years old. Since mid-September, he has been frequently complaining of pain. In mid-October, blood tests revealed chronic inflammation, elevated alkaline phosphatase levels, and a deficiency in vitamin D. The doctor su...
Dr. Lin Ruli Reply:
If there is no history of fractures, it is unlikely to be osteogenesis imperfecta. It is recommended to go to the hospital for a detailed examination.[Read More] Navigating Rare Disease: Caring for My Son with Osteogenesis Imperfecta
Understanding Bisphosphonates and Current Treatments for Osteogenesis Imperfecta
Bisphosphonates and Current Medical Treatments for Osteogenesis Imperfecta (OI) Dear Dr. Lin, Thank you for your previous explanations regarding bisphosphonate medications and the current medical approaches to treating osteogenesis imperfecta (OI). I would like to ask the follow...
Dr. Lin Ruli Reply:
1. It has been over 7 months since the fracture of the right forearm, and it has not fully healed. Is it still possible for the fracture site to heal after stopping the use of Fosamax? Yes, it is possible. 2. Before discontinuing the medication, what kind of assessments should ...[Read More] Understanding Bisphosphonates and Current Treatments for Osteogenesis Imperfecta
Current Advances in Osteogenesis Imperfecta Treatment and Bisphosphonate Use
Bisphosphonates and Current Medical Treatment for Osteogenesis Imperfecta (OI) Dear Dr. Lin, I am an Osteogenesis Imperfecta (OI) patient. I have been taking Fosamax (Alendronate) once a week from 2002 to 2015 for about 13 years. I remember that before starting medication, from ...
Dr. Lin Ruli Reply:
1. Are there better treatment options for Osteogenesis Imperfecta (OI) in Taiwan and abroad? There are ongoing clinical trials for stem cell transplantation. 2. Does taking Fosamax (Alendronate) lead to previously strong bones becoming more prone to fractures? No, it does not. 3....[Read More] Current Advances in Osteogenesis Imperfecta Treatment and Bisphosphonate Use
Understanding Blue Sclera in Infants: Causes and When to Seek Help
The sclera of the daughter appears bluish? Dear Dr. Jian, Hello. My daughter is currently about 82 days old. Around the age of 2 months, I suddenly noticed that her sclera appears bluish. She was born weighing 3432 grams and measuring 51 centimeters. Her current weight is approx...
Dr. Jian Yingxiu Reply:
It is normal for some babies to have a blue sclera. Please check if there are other family members with blue sclera, and monitor the baby's height and weight, as well as any unusual or excessive crying. Thank you.[Read More] Understanding Blue Sclera in Infants: Causes and When to Seek Help
Understanding Osteogenesis Imperfecta: Diagnosis and Treatment Options
Osteogenesis imperfecta Dear Dr. Jian, I would like to inform you that my twins were born on March 20. Upon birth, they were found to have a tendency to fracture easily. An X-ray examination revealed multiple fractures in both babies, and they exhibit the same symptoms. They hav...
Dr. Jian Yingxiu Reply:
If the patient is a "glass child," bisphosphonate medications used for osteoporosis may be considered to increase bone density and reduce the frequency of fractures. However, there is a potential risk of hypocalcemia as a complication, so the timing of use should be tho...[Read More] Understanding Osteogenesis Imperfecta: Diagnosis and Treatment Options
Understanding Osteogenesis Imperfecta: Diagnosis and Treatment Options
Rare Disease Consultation Hello, doctor: What examinations are performed during the initial visit for a patient with Osteogenesis Imperfecta (OI)? What follow-up examinations are conducted afterward? In Taiwan's healthcare system, besides calcium supplements and bisphosphona...
Dr. Lin Ruli Reply:
What examinations are performed during the initial consultation for a patient with Osteogenesis Imperfecta (OI)? After bone density tests, biochemical tests, and X-ray examinations, what follow-up tests are conducted? In Taiwan's healthcare system, aside from calcium supplem...[Read More] Understanding Osteogenesis Imperfecta: Diagnosis and Treatment Options
Understanding Osteogenesis Imperfecta: Neurological Impacts and Concerns
Neurology Hello Doctor: I am a patient with Osteogenesis Imperfecta (OI). In December 2004, I experienced a severe episode of dizziness that lasted for several days, extending over a month, after which it resolved on its own. However, around November 2006 until now, I have had si...
Dr. Chen Shunsheng Reply:
The condition is relatively complex with numerous questions. It is recommended to seek consultation at a medical center in your area, particularly for discussions with specialists in neurosurgery, neurology, and interventional radiology. If necessary, genetic testing may also be ...[Read More] Understanding Osteogenesis Imperfecta: Neurological Impacts and Concerns
How Often Should X-Rays Be Taken Safely for Rare Disease Patients?
How often is it safe to have an X-ray? Hello Doctor: I am an OI (Osteogenesis Imperfecta) patient. After fracturing my right thigh in 2003, I have been undergoing regular X-ray follow-ups, especially from 2006 to the present, where I have had X-rays taken almost every 3-4 months....
Dr. Lin Xuanpei Reply:
The safety concerns regarding X-ray exposure depend on factors such as the size of the area being imaged, the number of exposures, and the frequency of the examinations. It is also important to consider whether there are special reasons that necessitate the X-ray. For questions a...[Read More] How Often Should X-Rays Be Taken Safely for Rare Disease Patients?
Understanding Osteogenesis Imperfecta: Brain Abnormalities and Symptoms Explained
Department of Genetic Medicine Hello Doctor: I am a patient with Osteogenesis Imperfecta (OI). In December 2004, I experienced a severe episode of dizziness that lasted for several days, extending over a month, after which it resolved on its own. However, around November 2006 unt...
Dr. Jian Yingxiu Reply:
Your condition may be due to other causes of osteoporosis leading to increased fracture risk, such as atypical osteogenesis imperfecta type I or type IV. Please consult your physician regarding relevant tests for OI to confirm the diagnosis.[Read More] Understanding Osteogenesis Imperfecta: Brain Abnormalities and Symptoms Explained
Understanding Osteogenesis Imperfecta: Brain Abnormalities and Symptoms Explained
I'm sorry, but I need specific content to translate. Please provide the text Hello Doctor: I am a patient with Osteogenesis Imperfecta (OI). In December 2004, I experienced a severe episode of dizziness that lasted for several days and extended beyond a month, but it eventua...
Dr. Lin Xuanpei Reply:
It is unclear how old this adult internet user is or what their gender is. Osteogenesis imperfecta (OI) typically does not involve brain lesions. If the user's neurological symptoms are not due to other factors, it is essential to consider the possibility of cervical spinal ...[Read More] Understanding Osteogenesis Imperfecta: Brain Abnormalities and Symptoms Explained
Seeking Recommendations for Osteogenesis Imperfecta Specialists in Central Taiwan
Consult a physician? I have a friend who has Osteogenesis Imperfecta (OI). Previously, she was treated at a medical center in the northern part of Taiwan, where she was prescribed calcium supplements and bisphosphonate medications, and monitored for her previous surgeries. Since ...
Dr. Lin Xuanpei Reply:
I recommend Dr. Fu-Ren Tsai from the Department of Pediatric Genetics at China Medical University Hospital in Taichung, or Dr. Chia-Chi Hsu from the Pediatric Genetics Department at Taichung Veterans General Hospital. In Changhua, you can consult Dr. Yu-Yuan Ko or Dr. Hsuan-Pei L...[Read More] Seeking Recommendations for Osteogenesis Imperfecta Specialists in Central Taiwan
Navigating Rare Disease Treatment: Seeking Help for Osteogenesis Imperfecta
Seek medical consultation? I have a friend who has Osteogenesis Imperfecta (OI). She previously received treatment at a medical center in southern Taiwan and was prescribed calcium supplements. She also underwent surgery for a fracture and has been monitored for her previous surg...
Dr. Xu Shanjing Reply:
You can consult with Dr. Hsu Chia-Chi or Dr. Hsu Shan-Ching, both pediatric geneticists in the Department of Pediatrics.[Read More] Navigating Rare Disease Treatment: Seeking Help for Osteogenesis Imperfecta
Finding Specialists for Osteogenesis Imperfecta in Central Taiwan
Congenital diseases I have a friend who has Osteogenesis Imperfecta (OI). She previously received treatment at a medical center in the northern part of Taiwan, where she was prescribed calcium supplements and bisphosphonate medications, and had follow-ups regarding her previous s...
Dr. Ke Yuyuan Reply:
As a physician specializing in genetics, I am quite familiar with other geneticists. Several medical centers in central Taiwan have geneticists who conduct research on Osteogenesis Imperfecta (OI). At Taichung Veterans General Hospital, there are Dr. Hsu Shan-Ching and Dr. Hsu Ch...[Read More] Finding Specialists for Osteogenesis Imperfecta in Central Taiwan
Seeking Specialists for Osteogenesis Imperfecta in Central Taiwan
Rare genetic disorders I have a friend who has Osteogenesis Imperfecta (OI). She previously received treatment at a medical center in the northern part of Taiwan, taking calcium supplements and bisphosphonate medications, and monitoring her previous surgeries. Traveling north for...
Dr. Jian Yingxiu Reply:
You can visit the outpatient clinics at China Medical University Hospital or other genetic counseling centers in central Taiwan.[Read More] Seeking Specialists for Osteogenesis Imperfecta in Central Taiwan
Recommendations for Osteogenesis Imperfecta Specialists in Central Taiwan
Neurological disorders I have a friend who has Osteogenesis Imperfecta (OI). She previously received treatment at a medical center in the northern part of Taiwan, where she was prescribed calcium supplements and bisphosphonate medications, and had follow-ups regarding her previou...
Dr. Chen Shunsheng Reply:
To China Medical University, Changhua Christian Hospital, or Veterans General Hospital.[Read More] Recommendations for Osteogenesis Imperfecta Specialists in Central Taiwan
Understanding Genetic Counseling and Testing for Rare Diseases
Genetic counseling and treatment? Hello Doctor: Thank you for your explanation regarding the tests for Osteogenesis Imperfecta (OI) concerning Wei-Lun. In your explanation, you mentioned special biochemical tests, genetic analysis, and bone age assessment. Could you please clarif...
Dr. Lin Xuanpei Reply:
1. Special biochemical tests include examinations related to skeletal development: alkaline phosphatase (Alk.-P), calcium, phosphorus, urinary calcium, and calcium/creatinine ratio. Sometimes, calcitonin, osteocalcin, and other research-related bone metabolism products may also b...[Read More] Understanding Genetic Counseling and Testing for Rare Diseases
Understanding Type I Collagen Metabolism and Genetic Testing for Rare Diseases
Medical Genetics Endocrinology and Metabolism Hello Doctor: Thank you for your explanation regarding the tests for Osteogenesis Imperfecta (OI) related to Xiao Jing. You mentioned the quantification of type I collagen metabolites and blood tests, as well as COL1A1 and COL1A2 gene...
Dr. Hou Jiawei Reply:
1. Quantification of type I collagen metabolites: For example, pyridinoline cross-linked telopeptide of collagen type I and carboxy-terminal propeptide of procollagen type I are elevated in patients with osteogenesis imperfecta (OI). 2. Quantifying type I collagen metabolites can...[Read More] Understanding Type I Collagen Metabolism and Genetic Testing for Rare Diseases
Understanding Osteogenesis Imperfecta: Diagnosis and Treatment Options
Genetic counseling and treatment? Hello, doctor: What examinations are performed during the initial visit for a patient with Osteogenesis Imperfecta (OI)? What follow-up examinations are conducted afterward? In Taiwan's healthcare system, besides calcium supplements and bisp...
Dr. Lin Xuanpei Reply:
The examination items for the initial visit for Osteogenesis Imperfecta (OI) may vary slightly depending on the recommendations of the specialist physicians at different hospitals. Generally, it will include at least skeletal X-rays, bone mineral density tests, and specific bioch...[Read More] Understanding Osteogenesis Imperfecta: Diagnosis and Treatment Options
Understanding Osteogenesis Imperfecta: Diagnosis, Follow-Up, and Treatment Options
Medical Genetics Endocrinology and Metabolism Hello, doctor: What examinations are performed during the initial visit for a patient with Osteogenesis Imperfecta (OI)? What follow-up examinations are conducted afterward? In Taiwan's healthcare system, besides calcium suppleme...
Dr. Hou Jiawei Reply:
Osteogenesis Imperfecta (OI), commonly referred to as "glass bone disease," is primarily caused by a hereditary defect in type I collagen, leading to decreased bone strength and increased susceptibility to fractures. Initial evaluations upon first consultation typically...[Read More] Understanding Osteogenesis Imperfecta: Diagnosis, Follow-Up, and Treatment Options
Can Adults with OI Access Your Clinic for Skin Issues?
Immunodeficiency Dr. Lin: Hello, I am a patient with Osteogenesis Imperfecta (OI). I would like to inquire about my skin condition and would like to schedule an appointment with you. I am wondering if your clinic sees adults in addition to children.
Dr. Lin Sixie Reply:
Hello: Pediatrics generally sees patients under 18 years old, but this does not apply to those with a history of chronic illnesses identified during childhood. I can see if I can be of assistance. Wishing you health and safety.[Read More] Can Adults with OI Access Your Clinic for Skin Issues?