Understanding Fabry's Disease: Symptoms, Diagnosis, and Treatment Options
Suspected Fabry disease? I experience intermittent electric shock-like tingling sensations throughout my body (in my back and limbs, including my ankles). I have noticed that these sensations occur when I feel like I need to sweat, when I am anxious, or when I need to have a bowe...
Dr. Jian Yingxiu reply Rare Disease
You may consider consulting the Neurology Department at National Taiwan University or Chang Gung Memorial Hospital. Thank you.[Read More] Understanding Fabry's Disease: Symptoms, Diagnosis, and Treatment Options
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 Rare Disease
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 Rare Disease
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
Understanding Raynaud's Phenomenon: Insights on Rare Disease Management
Raynaud's phenomenon Hello! My niece is an elementary school teacher. While teaching dance at school, she accidentally twisted her waist, and later the other side also got twisted, resulting in some paralysis. After receiving treatment from both Western and traditional Chine...
Dr. Jian Yingxiu reply Rare Disease
Raynaud's syndrome, also known as Raynaud's phenomenon, refers to a condition where certain parts of the body experience changes in skin color and discomfort such as pain and swelling due to inadequate blood flow. The most commonly affected areas are the fingers and toe...[Read More] Understanding Raynaud's Phenomenon: Insights on Rare Disease Management
Understanding Tuberous Sclerosis: Symptoms, Causes, and Treatment Options
Tuberous Sclerosis Complex A four-year-old has developed small freckle-like spots on the face, which have increased in number by the age of six. After visiting a dermatologist in Taoyuan, the physician suspected tuberous sclerosis complex (TSC) and recommended further examination...
Dr. Jian Yingxiu reply Rare Disease
Tuberous sclerosis is generally caused by genetic mutations and can be classified into Type 1 and Type 2. Since it is caused by genetic mutations, all cells in the body carry this mutated gene. The main symptoms include issues related to the skin, teeth, nails, heart, kidneys, an...[Read More] Understanding Tuberous Sclerosis: Symptoms, Causes, and Treatment Options
Understanding ICD-9-CM Codes: Are All Listed Diseases Rare?
Questions regarding ICD-9-CM codes? Hello Dr. Jian, I would like to ask if all diseases with an ICD-9-CM code are considered rare diseases? Additionally, I cannot find the code for the rare disease I am looking for. Can I privately provide you with the code to inquire about relev...
Dr. Jian Yingxiu reply Rare Disease
Not all diseases with ICD-9 CM codes are considered rare diseases. According to the Rare Disease Act, a disease may be classified as rare if its incidence is less than 1 in 10,000, and it must be confirmed by a committee.[Read More] Understanding ICD-9-CM Codes: Are All Listed Diseases Rare?
Understanding ICD-9-CM Code 296: Symptoms, Treatment, and Insights
I would like to know more information about this disease? Hello Dr. Jian, I would like to know the relevant information regarding ICD-9-CM code 296, including the disease name, symptoms (what symptoms the patient has), and treatment options. Please respond to this inquiry via ema...
Dr. Jian Yingxiu reply Rare Disease
This condition is not currently classified as a rare disease. For more details, please consult your attending physician. Thank you.[Read More] Understanding ICD-9-CM Code 296: Symptoms, Treatment, and Insights
Understanding OTC Deficiency: Causes of Seizures in Infants and When to Seek Help
OTC deficiency (Ornithine Transcar Hello Doctor, my young son is nearly five months old (born on November 4, 2004) and is a patient with OTC deficiency. He has experienced seizures both at birth and recently. I would like to ask whether these phenomena are caused by the following...
Dr. Jian Yingxiu reply Rare Disease
Patients with OTC deficiency are prone to elevated blood ammonia levels during colds or when receiving vaccinations, which can lead to symptoms such as increased crying, vomiting, and even lethargy. Your baby's condition may be related to the cold medication, but the possibi...[Read More] Understanding OTC Deficiency: Causes of Seizures in Infants and When to Seek Help
Understanding Color Blindness: Genetic Risks for Your Children
Color blindness issues Consultation content: Hello Dr. Chien, I would like to ask you... My grandmother has color blindness, and both of my uncles also have color blindness. My mother does not have color blindness (she is likely a carrier), and I do not have color blindness eithe...
Dr. Jian Yingxiu reply Rare Disease
In terms of X-linked inheritance patterns, your mother could be a carrier or she could be unaffected. If she is unaffected, the probability of your children having the same genetic disorder would be the same as that of the general population. If your mother is a carrier, you have...[Read More] Understanding Color Blindness: Genetic Risks for Your Children
Is This Rare Disease Bubble Boy Syndrome? Understanding Symptoms and Next Steps
Is this a rare disease called Bubble Boy Disease? Hello, I just gave birth to a baby girl. She has been developing blisters in areas prone to friction, such as her hands, feet, and armpits. She is currently under observation in the hospital. The doctor informed me that she may ha...
Dr. Jian Yingxiu reply Rare Disease
Performing anesthesia and a biopsy on a newborn girl who is just over ten days old is generally safe. Pediatricians at most medical centers have sufficient experience to carry out the procedure and are adequately equipped to manage any potential complications that may arise. As f...[Read More] Is This Rare Disease Bubble Boy Syndrome? Understanding Symptoms and Next Steps
Understanding Wilson's Disease: Symptoms, Diagnosis, and Military Exemptions
Wilson's disease Hello, doctor. It seems that someone in my family has similar symptoms, and I have also had a blood test. My copper level is 725, and one type of protein is at 20, which I believe is normally between 25 and 40. The doctors say that my level is low and that I...
Dr. Jian Yingxiu reply Rare Disease
Please discuss with your physician whether further laboratory diagnostics are needed for confirmation.[Read More] Understanding Wilson's Disease: Symptoms, Diagnosis, and Military Exemptions
Caring for Newborns Diagnosed with Propionic Acidemia: Symptoms and Guidance
If a newborn is diagnosed with propionic acidemia, what should be done? If a baby is diagnosed with propionic acidemia, what symptoms might they exhibit and how should they be cared for?
Dr. Jian Yingxiu reply Rare Disease
Newborns should be monitored for symptoms such as poor appetite, feeding difficulties, vomiting, respiratory distress, and decreased activity levels. If there are any abnormalities in their feeding, prompt medical attention should be sought to provide appropriate treatment for co...[Read More] Caring for Newborns Diagnosed with Propionic Acidemia: Symptoms and Guidance
Dietary Management and Genetic Insights for Adrenoleukodystrophy (ALD) Patients
Adrenoleukodystrophy Hello, doctor! How should patients with ALD manage their diet? Why is it necessary to control it? Where is the defective gene located in patients? What are the sources of long-chain fatty acids in the human body? Why is the effect of using liquid fatty acids ...
Dr. Jian Yingxiu reply Rare Disease
The purpose of dietary management in patients with Adrenoleukodystrophy (ALD) is to reduce the accumulation of very long-chain fatty acids in the body. However, the pathogenic mechanism of ALD involves more than just the accumulation of very long-chain fatty acids, thus further r...[Read More] Dietary Management and Genetic Insights for Adrenoleukodystrophy (ALD) Patients
Exploring Treatment Options for Adrenoleukodystrophy in Taiwan
Adrenal medullary sclerosis Doctor: I have significant questions regarding ALD... Are there any treatment options being explored for this condition in Taiwan? Although it is rare and has a prevalence of one in a hundred thousand... what if someone in Taiwan were to develop it? Is...
Dr. Jian Yingxiu reply Rare Disease
The current standard treatment is bone marrow transplantation, while other medications or gene therapies have not yet been proven effective or implemented.[Read More] Exploring Treatment Options for Adrenoleukodystrophy in Taiwan
Understanding Tuberous Sclerosis: Genetic Risks and Family Planning
Tuberous Sclerosis Complex (TSC) Hello Doctor: I am about to get married, but there are two individuals in my fiancé's family who have similar conditions to epilepsy (though it is unclear if they have tuberous sclerosis). Additionally, his sister has been confirmed to have t...
Dr. Jian Yingxiu reply Rare Disease
If it is confirmed that it is tuberous sclerosis, which is an autosomal dominant genetic disorder, if your husband is the affected individual, there is a 50% chance that your children will inherit this gene. However, since your husband's condition is unknown, it is best for ...[Read More] Understanding Tuberous Sclerosis: Genetic Risks and Family Planning
Finding Crohn's Disease Specialists in Taoyuan, Taiwan: A Guide for Patients
Crohn's disease Hello Dr. Jian: My husband is American and has a rare disease called Crohn's disease. I would like to ask you, if he needs a doctor, where can we find help? My husband and I live in Taoyuan County.
Dr. Jian Yingxiu reply Rare Disease
Please consult a gastroenterologist at a medical center.[Read More] Finding Crohn's Disease Specialists in Taoyuan, Taiwan: A Guide for Patients
Finding Pediatric Genetic Counseling for Rare Hair Disorders in Taiwan
Hair issues? Hello, I have received your reply. You suggested that I seek the opinion of a pediatrician at a nearby genetic counseling center. However, after checking several hospitals, I did not find any such clinics. Could you please recommend which hospitals in central and sou...
Dr. Jian Yingxiu reply Rare Disease
Hello, the certified genetic centers by the Department of Health include Dr. Fu-Jen Tsai from the Department of Pediatrics and Genetics at China Medical University in Taichung, Dr. Hsiu-Chuan Lin from National Cheng Kung University Hospital, Dr. Bao-Chin Chiu from Kaohsiung Veter...[Read More] Finding Pediatric Genetic Counseling for Rare Hair Disorders in Taiwan
Understanding Hand Tremors: Causes, Genetics, and Solutions
Peripheral nerves Hello, I would like to inquire about the factors that can cause hand tremors. This condition has been present in my family since my father, and my siblings also experience it. We have tested for thyroid function, and the results were normal. Neurologists and neu...
Dr. Jian Yingxiu reply Rare Disease
Please contact your neurologist. The most common cause may be benign essential tremor, which can be managed with medication to improve symptoms during times of anxiety.[Read More] Understanding Hand Tremors: Causes, Genetics, and Solutions
Understanding Spinal Muscular Atrophy: Support Strategies for Teachers and Caregivers
Spinal Muscular Atrophy (SMA) Hello Dr. Jian, I am a resource teacher at an elementary school, and I have a student with spinal muscular atrophy (SMA) who is completely paralyzed in her lower limbs. Since I have never encountered a child with this condition before, I am unsure ho...
Dr. Jian Yingxiu reply Rare Disease
Children with spinal muscular atrophy who live until elementary school age are likely to have type II or type III. Although this is a progressive disease, rehabilitation can still prevent joint deformities, improve respiratory function, and reduce the occurrence of related compli...[Read More] Understanding Spinal Muscular Atrophy: Support Strategies for Teachers and Caregivers
Is There a Genetic Link to Pediatric Pancreatoblastoma?
Is there a genetic association with pediatric pancreaticoblastoma? My child was diagnosed with pancreaticoblastoma in 2002 at the age of three years and seven months. Prior to the diagnosis, he had been experiencing poor appetite, frequent colds, and vomiting, but there were no o...
Dr. Jian Yingxiu reply Rare Disease
Nesidioblastosis is currently known to be associated with more than two genes. There have been reports in the literature of a few cases where more than one individual in the same family has been affected. It is recommended that you bring your siblings for a follow-up appointment,...[Read More] Is There a Genetic Link to Pediatric Pancreatoblastoma?