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:
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
Navigating Rare Diseases: Which Specialist Should You Consult?
What should I do??? Current medications: Fosamax (Alendronate), Bio-cal (Calcium supplement) for about four to five years. Medical history: (2002) Surgery on the right ear ossicles, post-operative hearing worsened. (2003) Right femur fracture surgery. (2007) Due to poor healing f...
Dr. Lin Xuanpei Reply:
Hello, the symptoms you described in your first question may indicate not only an allergy but also the possibility of sensory abnormalities. It would be advisable to consult an experienced dermatologist for an evaluation and necessary tests. You may also ask the dermatologist if ...[Read More] Navigating Rare Diseases: Which Specialist Should You Consult?
Top 10 Rare Diseases You Should Know About
Rare diseases I would like to know the top ten rare diseases!
Dr. Lin Xuanpei Reply:
The characteristics of rare diseases are that "there are many types of diseases, but the individual incidence rates are very low!" The top ten that can be roughly ranked are: Phenylketonuria, Amyotrophic Lateral Sclerosis, Achondroplasia, Multiple Sclerosis, Osteogenesi...[Read More] Top 10 Rare Diseases You Should Know About
Understanding Clavicular and Cranial Developmental Disorders in Children
Clavicular cranial dysplasia Dear Dr. Jian, My daughter has bilateral parietal bone hypoplasia, which feels soft to the touch and covers a large area. She is currently 1 year and 4 months old, and her head circumference, height, and weight are all normal. Dr. Ma Junyi at Asia Un...
Dr. Jian Yingxiu Reply:
The softening of the parietal bone is quite common in newborns and generally does not require concern. However, it is important to monitor for any associated issues such as electrolyte metabolism disorders or congenital osteogenesis imperfecta. If there is also evidence of underd...[Read More] Understanding Clavicular and Cranial Developmental Disorders in Children
Understanding Clavicular and Cranial Hypoplasia: A Guide for Parents
Clavicular cranial dysplasia Dear Dr. Jian, I emailed you last week but I haven't received a response, and I'm not sure why. My daughter is currently one year and four months old, and the fontanelle on her head still feels soft to the touch, almost as if there is nothi...
Dr. Jian Yingxiu Reply:
The softening of the skull is quite common in newborns and generally does not require concern. However, it is important to monitor for any associated issues such as electrolyte imbalances or congenital osteogenesis imperfecta. If there is also evidence of underdevelopment in the ...[Read More] Understanding Clavicular and Cranial Hypoplasia: A Guide for Parents
Are There Side Effects of AREDIAR Treatment for Osteogenesis Imperfecta?
Does AREDIA have side effects? Hello Dr. Lin: I would like to inquire about bisphosphonate treatment (AREDIAR treatment) for osteogenesis imperfecta. Is it a periodic treatment? Are there any significant side effects associated with this treatment? Could it cause any inconvenienc...
Dr. Lin Xuanpei Reply:
Dear online user Xiao Yang: The bisphosphonate treatment (AREDIA therapy) for osteogenesis imperfecta requires monthly injections. The efficacy is generally better in patients who are not yet adults, and there is less consensus on whether adult patients still need long-term tre...[Read More] Are There Side Effects of AREDIAR Treatment for Osteogenesis Imperfecta?