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
Best Specialist Recommendations for Rare Disease Symptoms
Rare Disease Consultation Hello, doctor: I have a friend who is experiencing discomfort in the shoulder and neck, occasional dizziness, and skin issues. They are considering visiting Linkou Chang Gung Memorial Hospital. Could you please recommend which specialist would be best to...
Dr. Li Zongliao Reply:
The condition commonly referred to as "glass doll" involves discomfort in the shoulders and neck, and occasional dizziness, which may be related to cervical spine or neck muscle issues. It is recommended to consult a neurologist or an allergist/immunologist/rheumatologi...[Read More] Best Specialist Recommendations for Rare Disease Symptoms
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?
Can Rare Growth Disorders Be Treated? Understanding Medical Options
Will I be this petite for a lifetime? Hello, doctor! If a person has a condition that prevents them from growing taller forever, and has been subjected to unusual looks or ridicule since childhood... this condition can indeed cause significant stress. Is there any emergency treat...
Dr. Hou Jiawei Reply:
There are many reasons for not growing taller, but medical interventions can still offer opportunities for help: 1. Administration of growth hormone 2. Specific oral medications 3. Limb lengthening surgery. The first two options require that there is still growth plate space, whi...[Read More] Can Rare Growth Disorders Be Treated? Understanding Medical Options
Can Adults Consult for Rare Neck and Shoulder Nerve Issues?
Cervical nerves Dr. Lin: Hello, I am a patient with a rare disease (not neurological). I seem to be experiencing some unusual symptoms in my shoulder and neck area, and I would like to schedule an appointment with you. I am wondering if your clinic sees adults in addition to chil...
Dr. Lin Guanglin Reply:
I’m sorry, but I only see pediatric patients. I recommend you consult an adult neurologist. Wishing you all the best.[Read More] Can Adults Consult for Rare Neck and Shoulder Nerve Issues?
Understanding Rare Diseases: A Journey of Resilience in Childhood
I want to grow up? The child is seven years old this year. She is in the first grade of elementary school, with a height of 70-75 cm and a weight of 7-7.5 kg. She is unable to express herself and cannot walk, and is currently undergoing rehabilitation. Chromosomal testing has ret...
Dr. Jian Yingxiu Reply:
Your baby appears to be small at birth, which may suggest a congenital abnormality or possible prenatal injury. The exact cause should be evaluated by consulting a pediatric neurologist or a genetic specialist at a medical center.[Read More] Understanding Rare Diseases: A Journey of Resilience in Childhood
Understanding Growth Issues in Children: When to Seek Medical Help
Children who do not grow properly? Hello, I have a 2-year and 5-month-old son who eats 4 to 6 meals a day, but his weight has not increased for over a year. He has taken various Chinese herbal medicines to improve his constitution, but it hasn't helped; he only weighs 10 kil...
Dr. Hou Jiawei Reply:
During this period, the baby's weight gain has indeed been insufficient, which may indicate an underlying health issue. It is necessary to take the child to a medical facility for diagnosis to determine whether the growth delay is due to gastrointestinal, dietary, nutritiona...[Read More] Understanding Growth Issues in Children: When to Seek Medical Help
Understanding Post-Concussion Symptoms in Children: Causes and Treatments
Concussion Hello Doctor: My 10-year-old child has recently been complaining of frequent pain in the back of the head. He was previously injured in second grade when he fell and hit the back of his head, but medical examinations at that time showed no significant issues. However, ...
Dr. Huang Litong Reply:
1. It's not a concussion issue. 2. It may be related to the pressure of academic performance in children.[Read More] Understanding Post-Concussion Symptoms in Children: Causes and Treatments
Understanding Rare Neurological Disorders: From Dystonia to Sleep Issues
Facial nerve palsy, extrapyramidal syndrome, chorea, Parkinson's disease, epilepsy? Doctor, I have been suffering from this illness for a long time—vertebral body syndrome, chorea, Parkinson's disease, epilepsy. I didn't mean to come into contact with amphetamines,...
Dr. Lai Xiangrong Reply:
What is your main issue? The likelihood of young-onset Parkinson's disease is very low, and chorea and epilepsy are completely different conditions. Sleep is another issue, and dependence on amphetamines is also a concern. You should first go to the hospital to address your ...[Read More] Understanding Rare Neurological Disorders: From Dystonia to Sleep Issues
Understanding Rare Neurological Disorders: Seeking Answers for My Mother's Symptoms
Please provide the content you would like me to translate? My mother has been troubled by frequent hand cramps for nearly ten years. She has been regularly seeing a neurologist in Taichung, but there seems to be no improvement. The neurologist in Taichung diagnosed her with "...
Dr. Lai Xiangrong Reply:
Based on the description in the letter, the frequent muscle cramps in the hands, along with the symptoms of uncontrollable cramps leading to a few minutes of unconsciousness, could potentially indicate epilepsy. Epilepsy is characterized by abnormal electrical discharges in the b...[Read More] Understanding Rare Neurological Disorders: Seeking Answers for My Mother's Symptoms
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
Concerns About Marfan Syndrome: Growth, Surgery, and Treatment Updates
Concerns about Marfan syndrome? Dear Dr. Hou, My daughter is 12 years old and is about to enter the first year of junior high school. She is 168 cm tall and weighs 46 kg. Approximately two years ago, she was diagnosed with suspected Marfan syndrome. Her current symptoms include ...
Dr. Hou Jiawei Reply:
The treatment for Marfan syndrome primarily focuses on symptomatic management. Utilizing low-dose estrogen can promote early closure of the growth plates, thereby slowing growth and reducing the severity of scoliosis. Additionally, bone density should be assessed to determine app...[Read More] Concerns About Marfan Syndrome: Growth, Surgery, and Treatment Updates
Tracking Genetic Mutations in Muscle Atrophy: Causes and Prevention
Tracking the Causes of Muscle Atrophy Due to Genetic Mutations and Strategies for Preventing Recurrence? My son, who is in the third year of junior high school, has been experiencing symptoms progressively. Initially, the most noticeable issue was frequent falls. As parents, we o...
Dr. Chen Shunsheng Reply:
In the country, genetic diagnosis for progressive muscular atrophy is relatively rare. Currently, related genetic diagnosis and treatment are conducted through international collaboration, with most specimens being sent to Japan or the United States for testing.[Read More] Tracking Genetic Mutations in Muscle Atrophy: Causes and Prevention
Understanding Joint Pain: Seeking Answers for Rare Conditions
Is there pain in all the joints? I have been experiencing this issue for seven or eight years. Whenever I have an episode, one of my joints becomes swollen and painful. I have visited many hospitals, but no one has been able to determine the cause. I only went to a hospital in Ch...
Dr. Lin Sixie Reply:
If multiple joints are indeed red, swollen, hot, and painful, and the symptoms persist for more than six weeks, you may meet the criteria for "chronic polyarthritis." This could be an autoimmune disease or another systemic condition, and it is essential to consult a rhe...[Read More] Understanding Joint Pain: Seeking Answers for Rare Conditions
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?
Understanding Involuntary Head Tremors: Causes and Diagnosis
What could be the reasons for persistent head shaking? Hello, doctor! I would like to ask about my mother (in her 60s). She experiences involuntary head shaking when she is not paying attention (for example, while watching TV), but when you talk to her and she is focused, the sha...
Dr. Chen Shunsheng Reply:
Involuntary head movements can have several possible causes: 1. Essential tremor 2. Tardive dyskinesia 3. Dystonia 4. Tics 5. Other conditions; it is advisable to consult a neurologist for a definitive diagnosis before determining the next steps.[Read More] Understanding Involuntary Head Tremors: Causes and Diagnosis
Can You Still Grow Taller After a Certain Age? Exploring Rare Conditions
Increase in height? I would like to ask the doctor if I can still grow taller at my age. I used to take traditional Chinese medicine (bone growth medicine) but it didn't seem to work, and I'm currently only 150 cm tall. I heard from my instructor that her daughter grew ...
Dr. Hou Jiawei Reply:
Taking traditional Chinese medicine (bone growth medicine) does not directly stimulate height increase. It is recommended to first assess the bones and growth plates. If there is still space in the growth plates, specific medications may be used to assist growth after a detailed ...[Read More] Can You Still Grow Taller After a Certain Age? Exploring Rare Conditions
Can Thrombocytopenic Purpura Be Fatal? Urgent Help Needed for 30-Year-Old
Can purpura be fatal? My younger sibling is only 30 years old and is in critical condition! Dear Sir, My sibling has been diagnosed with purpura at Tri-Service General Hospital. They have red spots on their back and abdomen, and their condition fluctuates between better and wors...
Dr. Jian Yingxiu Reply:
There are many causes of purpura, and the prognosis is often poor. It is advisable to discuss a detailed treatment plan with your attending physician.[Read More] Can Thrombocytopenic Purpura Be Fatal? Urgent Help Needed for 30-Year-Old
Understanding Rare Hearing Disorders in Children: A Parent's Guide
Rare Diseases Related to Hearing Loss Hello, I would like to inquire about my eldest daughter's hearing-related issues and the name of a rare disease. My daughter is 9 years old, and when she was 2 to 3 years old, she was diagnosed with hearing problems at Chiayi Christian H...
Dr. Lin Guanglin Reply:
I may not be able to answer your question, but I found some information for your reference: http://www.chinainfo.gov.cn/data/200112/1_20011204_23841.html http://www.tfrd.org.tw/rare/typeCont.php?sno=0724&kind_id= http://www.hearingaid.com.tw/DrHsu/hsu3.htm[Read More] Understanding Rare Hearing Disorders in Children: A Parent's Guide
Understanding Piriformis Syndrome: Diagnosis and Treatment Options
The piriformis muscle gradually transitions from soreness to pain - second question? The following content is a physician's recommendation, but some examinations have already been conducted at China Medical University, and no issues were found. The parts in parentheses indic...
Dr. Chen Shunsheng Reply:
Consultation with a relevant neurologist is necessary, and this consultation cannot replace an in-person examination. You will need to provide the original films to your physician for review.[Read More] Understanding Piriformis Syndrome: Diagnosis and Treatment Options