Understanding Crohn's Disease: Why It's Not Classified as a Rare Disease in Taiwan
Crohn's disease I would like to ask Dr. Jian why Crohn's disease is not classified as a rare disease. I have heard from my attending physician that its incidence is very low among East Asians, and it is somewhat related to genetic factors. Is it true that in Taiwan, the...
Dr. Jian Yingxiu reply Rare Disease
Currently, the rare diseases defined by the Rare Disease Act refer to diseases with a prevalence rate below the standards set by the central competent authority and recognized by the committee as specified in Article 4, or those designated by the central competent authority due t...[Read More] Understanding Crohn's Disease: Why It's Not Classified as a Rare Disease in Taiwan
Understanding Rare Disorders: When Children's Behavior Mimics Monkeys
The child's behavior is becoming increasingly monkey-like? Hello Dr. Jian, I have a friend whose son is currently about 4-5 years old. His mother has noticed that the child's behavior and appearance are increasingly resembling that of a monkey. For example, he is very a...
Dr. Jian Yingxiu reply Rare Disease
There are many potential causes of developmental delays in intelligence. A diet consisting solely of fruits may lead to abnormal protein metabolism, causing the child to stop consuming protein on their own. Please take the child to a pediatric genetic specialist at a major medica...[Read More] Understanding Rare Disorders: When Children's Behavior Mimics Monkeys
Understanding Progeria: Diagnosis Challenges and Insights
Please help me? Dr. Jian: Is it possible to diagnose "progeria," this rare disease, in the field of medicine, or must one wait until symptoms appear to determine if it is indeed "progeria"? This condition involves metabolic abnormalities, but why are metabolic...
Dr. Jian Yingxiu reply Rare Disease
Progeroid syndromes encompass a variety of diseases collectively referred to as progeroid-like syndromes. Some of the pathogenic genes are known, while others remain unclear. Patients with typical progeroid syndromes are born with normal weight and appearance, but usually begin t...[Read More] Understanding Progeria: Diagnosis Challenges and Insights
Understanding Leber Hereditary Optic Neuropathy: Resources and Research in Taiwan
How should I proceed? Is there information available in Taiwan regarding "Leber's Hereditary Optic Neuropathy"? Is there ongoing research on this condition in Taiwan? Where should I inquire about this disease, and what steps should I take?
Dr. Jian Yingxiu reply Rare Disease
This condition is a mitochondrial disease. Please consult the genetic counseling clinic at various medical centers, or refer to the genetic disease counseling portal at http://www.genetic-counseling.com.tw/ for information regarding testing units related to mitochondrial diseases...[Read More] Understanding Leber Hereditary Optic Neuropathy: Resources and Research in Taiwan
Understanding Rare Diseases: Why Do I Feel Cold in Winter?
Winter can be cold? Doctor, may I ask... during winter, sometimes I feel extremely cold, to the point of being unable to tolerate it. What could be the underlying condition?
Dr. Jian Yingxiu reply Rare Disease
Please visit the Family Medicine outpatient clinic for consultation.[Read More] Understanding Rare Diseases: Why Do I Feel Cold in Winter?
Persistent Lower Eyelid Twitching: Causes and Specialist Recommendations
The lower left eyelid has been twitching frequently (for about ten days)? I have been experiencing frequent issues with my lower left eyelid for about ten days. I suspect it may be related to a head injury I sustained about two weeks ago. Which specialty should I consult? Thank y...
Dr. Jian Yingxiu reply Rare Disease
Please first refer to internal medicine.[Read More] Persistent Lower Eyelid Twitching: Causes and Specialist Recommendations
Understanding Congenital Diseases: Definitions and Insights
What is a congenital disease? What is a congenital disease? It refers to diseases that are present at the time of fertilization, diseases that occur before birth in the womb, or diseases that are evident at birth. Congenital diseases are classified as those that may have develope...
Dr. Jian Yingxiu reply Rare Disease
Currently, congenital diseases refer to conditions that are present at birth. Some diseases may not manifest at birth but are hereditary conditions, and they still fall under the category of congenital diseases.[Read More] Understanding Congenital Diseases: Definitions and Insights
Understanding Favism: Causes, Symptoms, and Daily Precautions
Favism What is Favism? Favism is a condition that occurs due to a deficiency of the enzyme glucose-6-phosphate dehydrogenase (G6PD). This enzyme deficiency can lead to hemolytic anemia, especially after the consumption of fava beans or exposure to certain infections, medication...
Dr. Jian Yingxiu reply Rare Disease
The formal medical term for Favism is "Glucose-6-Phosphate Dehydrogenase Deficiency," abbreviated as G6PD deficiency. G6PD is an enzyme that assists in the metabolism of glucose in the human body, producing a substance that protects red blood cells. Patients with Favism...[Read More] Understanding Favism: Causes, Symptoms, and Daily Precautions
The Impact of Rare Diseases on Society: Prevalence and Challenges
Rare diseases What impact do rare diseases have on society? What is the average incidence rate per year?
Dr. Jian Yingxiu reply Rare Disease
Rare diseases are defined as conditions with extremely low prevalence and a very small number of affected individuals. Most of these are genetic disorders, while some are non-genetic or of unknown origin. According to the U.S. Orphan Drug Act, a disease is considered rare if it a...[Read More] The Impact of Rare Diseases on Society: Prevalence and Challenges
Understanding Huntington's Disease: Causes, Symptoms, Treatment, and Resources
Huntington's disease is a hereditary neurodegenerative disorder characterized by the progressive breakdown of nerve cells Huntington's disease is a genetic disorder caused by a mutation in the HTT gene, which leads to the production of an abnormal form of the huntingtin...
Dr. Jian Yingxiu reply Rare Disease
Please refer to the Department of Health's project plan "Genetic Disease Counseling Service Window" (website: http://www.genetic-counseling.com.tw) for information regarding Huntington's disease under the section "Diseases and Testing." Thank you.[Read More] Understanding Huntington's Disease: Causes, Symptoms, Treatment, and Resources
Understanding Cord Blood Applications for Rare Diseases: Compatibility and Testing
Applications of Umbilical Cord Blood Hello, I would like to inquire whether umbilical cord blood can only be used by individuals who are blood relatives, or what testing methods can determine compatibility. I look forward to your response. Thank you!
Dr. Jian Yingxiu reply Rare Disease
Umbilical cord blood transplantation still requires matching, meaning that the donor and recipient must have compatible human leukocyte antigens (HLAs) to avoid rejection. The likelihood of matching is higher among relatives than between non-relatives, resulting in better outcome...[Read More] Understanding Cord Blood Applications for Rare Diseases: Compatibility and Testing
Understanding Mediterranean Anemia: Risks, Genetics, and Pregnancy Concerns
Mediterranean anemia Hello Dr. Jian, I would like to ask about issues related to thalassemia. My boyfriend had to undergo a medical examination, and after three blood tests, he was diagnosed with severe thalassemia. The lab technician was astonished that he has lived to 25 year...
Dr. Jian Yingxiu reply Rare Disease
Severe thalassemia should still be treated with blood transfusions. It is unclear whether he has undergone further testing to determine the specific type and its genotype. As for whether your children will inherit it, it is advisable to undergo premarital screening to check if yo...[Read More] Understanding Mediterranean Anemia: Risks, Genetics, and Pregnancy Concerns
Understanding Otosclerosis: Treatment Options and Medication Insights
Otosclerosis Hello Dr. Jian: A classmate's mother has otosclerosis, and I would like to ask you: 1. How is this condition treated? 2. Are there any medications that can help manage it? 3. If medication is available for management, can the doctor prescribe a long-term prescri...
Dr. Jian Yingxiu reply Rare Disease
Most patients with otosclerosis can be treated surgically by drilling a small hole in the stapes footplate and inserting a piston to replace the function of the hardened ossicle. For patients who are unable or unwilling to undergo surgery, hearing aids can be used. As for the ora...[Read More] Understanding Otosclerosis: Treatment Options and Medication Insights
Long-Term Effects of XANAX: Struggling with Rare Side Effects and Recovery
Long-term use of XANAX can lead to an inability to function normally? Hello, doctor: After taking XANAX, I experienced severe physical debilitation that has persisted even after discontinuing the medication for a long time. I read that there are cases of paralysis associated with...
Dr. Jian Yingxiu reply Rare Disease
Based on your description, there may be issues beyond medication. Please seek assistance from a psychiatrist and a neurologist. Thank you.[Read More] Long-Term Effects of XANAX: Struggling with Rare Side Effects and Recovery
How to Access Medications for Rare Diseases: A Guide
Rare diseases Hello Dr. Jian, I would like to ask how medications for rare diseases are generally obtained.
Dr. Jian Yingxiu reply Rare Disease
At National Taiwan University Hospital, we have some commonly used medications for rare diseases available. If the indications for use are met, prescriptions can be directly filled at our pharmacy by the physician. For non-routine medications, if there is an urgent need, inquirie...[Read More] How to Access Medications for Rare Diseases: A Guide