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 Rare Disease
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 Rare Disease
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 Rare Disease
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 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 Rare Disease
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 Taiwan's Rare Disease Database: Privacy, Security, and Legal Considerations
Taiwan Rare Disease Organization Database Hello Doctor, have you heard about the Rare Disease Organization Database Project in Taiwan? Regarding the storage of specimens and data in the Taiwan Rare Disease Organization Database, is the privacy, security, and legal framework compr...
Dr. Lin Ruli reply Rare Disease
Legal survey on issues faced by patients with non-rare diseases.[Read More] Understanding Taiwan's Rare Disease Database: Privacy, Security, and Legal Considerations
Top 10 Rare Diseases in Taiwan: Do They Include Autoimmune Disorders?
Top Ten Rare Diseases I would like to know if the top ten rare diseases in Taiwan include autoimmune diseases. This is very important, please answer me, thank you.
Dr. Lin Ruli reply Rare Disease
I'm sorry, I don't know. Could you please ask the Rare Disease Foundation? They might have the information.[Read More] Top 10 Rare Diseases in Taiwan: Do They Include Autoimmune Disorders?
Choosing the Right Specialist for Rare Disease Management
How to choose??? Hello Doctor: I have a friend who has osteogenesis imperfecta (brittle bone disease) and is experiencing dizziness and skin issues. They are considering visiting Chang Gung Memorial Hospital in Linkou. Could you please recommend which specialist would be best to ...
Dr. Lin Ruli reply Rare Disease
Neurology: Chen Rou-Hsien, Lu Ching-Song, Huang Ying-Ju, Wu Rui-Zhen, Weng Yi-Hsin Allergy, Immunology, and Rheumatology: Chen Chi-Yi Dermatology: Yang Li-Chen[Read More] Choosing the Right Specialist for Rare Disease Management
Understanding Rare Allergies in Children: Seeking the Right Treatment
Athlete's foot?? Allergy??? I would like to inquire about pediatric allergies. I have a son who was born in 2001 at 23 weeks gestation, weighing over 800 grams. Recently, I noticed that the skin on his fingers and the soles of his feet has been peeling. We first consulted a ...
Dr. Lin Ruli reply Rare Disease
It doesn't seem like athlete's foot; please consult Dr. Shih Yi-Hsin at our pediatric dermatology department for diagnosis and treatment.[Read More] Understanding Rare Allergies in Children: Seeking the Right Treatment
Understanding Hyperammonemia: Causes and Implications for Newborns
What is hyperammonemia? Hyperammonemia is a condition characterized by elevated levels of ammonia in the blood. It can occur due to various reasons, including genetic disorders that affect the urea cycle, liver dysfunction, or certain metabolic disorders. In newborns, it is often...
Dr. Lin Ruli reply Rare Disease
Hyperammonemia is caused by the inability to excrete ammonia, a byproduct of amino acid metabolism. Abnormalities in urea metabolism, organic acid metabolism, and liver function can all lead to hyperammonemia. Please seek medical attention promptly.[Read More] Understanding Hyperammonemia: Causes and Implications for Newborns
Understanding Ectodermal Dysplasia: Coping with Rare Disease Challenges
Ectodermal dysplasia Dear Dr. Lin, I am your patient (the younger sister of two siblings) and I would like to ask if there are any results from our diagnostic tests. I am feeling extremely stressed; my in-laws are unaware of my condition, and my husband is also under significant...
Dr. Lin Ruli reply Rare Disease
Yulan: Genetic testing is a time-consuming and labor-intensive process, especially since the genes causing your symptoms have not yet been identified. I will do my best, but I cannot guarantee that we will find an answer. Mingchun has already provided you with some treatment reco...[Read More] Understanding Ectodermal Dysplasia: Coping with Rare Disease Challenges
Common Health Conditions Associated with Intellectual Disabilities: Care Tips and Support
What types of diseases are commonly associated with individuals with intellectual disabilities? What types of diseases are commonly associated with individuals with intellectual disabilities? What should we pay attention to when interacting with them, and how can we assist them? ...
Dr. Lin Ruli reply Rare Disease
Intellectual disability is actually just one of the clinical manifestations of numerous disorders. Theoretically, it is essential to understand the underlying causes first, and then provide appropriate assistance based on the level of intellectual impairment.[Read More] Common Health Conditions Associated with Intellectual Disabilities: Care Tips and Support