Rare Disease Q&A - Page 27

Share to:
Unexplained Cold-Like Symptoms: Seeking Answers for Persistent Illness

Symptoms similar to a cold have persisted for a long time? Hello Doctor: My symptoms are quite strange. I seem to have a cold, with persistent fever that subsides after taking medication. Initially, I experienced chills and felt cold, and this has been going on for two weeks. Tod...


Dr. Jian Yingxiu Reply:
The term "examination" does not necessarily refer to a comprehensive health check-up. Please consult an internal medicine physician; if necessary, tests related to your symptoms are covered by health insurance.

[Read More] Unexplained Cold-Like Symptoms: Seeking Answers for Persistent Illness


Understanding Platelet Dysfunction: Bone Marrow Stem Cell Transplant Explained

Thrombocytopenic purpura Thank you for your response. I now have a glimmer of hope. I would like to ask, what is a bone marrow stem cell transplant? Does it refer to umbilical cord blood? Which hospitals in Taiwan have had successful cases? Where can I obtain relevant information...


Dr. Qian Xinnan Reply:
Dear Sir/Madam, Regarding bone marrow stem cell transplantation, it refers to hematopoietic stem cells from the bone marrow. Currently, the sources of stem cells include bone marrow, peripheral blood, and umbilical cord blood. If you have any questions, please consult your atten...

[Read More] Understanding Platelet Dysfunction: Bone Marrow Stem Cell Transplant Explained


Understanding Scleroderma: Treatment Options and Patient Concerns in Taiwan

The struggles of patients with scleroderma? Hello Doctor: My father is a patient with a rare disease called scleroderma. He is currently receiving treatment at Kaohsiung Veterans General Hospital, with regular check-ups once a month. His condition has not progressed much, and he ...


Dr. Yang Kunde Reply:
Scleroderma is an autoimmune disease in which the immune cells attack the skin. The severity varies among individuals. In its simplest form, it affects the skin; in more complex cases, it can involve internal organs, particularly the gastrointestinal tract. Therefore, treatment a...

[Read More] Understanding Scleroderma: Treatment Options and Patient Concerns in Taiwan


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:
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 Platelet Dysfunction: Is There Hope for Treatment?

Thrombocytopenic purpura The child is six years old and has a history of easy bruising and prolonged bleeding since early childhood. After evaluation at Chang Gung Memorial Hospital, it was diagnosed that the platelet count is normal, but the function is impaired, leading to a di...


Dr. Qian Xinnan Reply:
Dear Sir/Madam, Regarding the treatment for the diagnosis of "thrombocytopenia," the following approaches are recommended: 1. Bone marrow stem cell transplantation is the only definitive treatment, with successful cases reported. 2. It is important to take precautions...

[Read More] Understanding Platelet Dysfunction: Is There Hope for Treatment?


Understanding Periventricular Leukomalacia: Rehabilitation Strategies for Infants

Periventricular white matter softening Hello Dr. Chen, I would like to consult you regarding my daughter, who is currently 21 months old, almost 22 months. She was born prematurely at 29 weeks as part of a set of twins, with the older sister weighing 1296 grams and the younger s...


Dr. Chen Shunsheng Reply:
Please have a pediatric neurologist confirm the diagnosis. Once the diagnosis is established, take the child to the early intervention treatment program. This program is subsidized by the Department of Health and primarily provides developmental assessment tools for physical ther...

[Read More] Understanding Periventricular Leukomalacia: Rehabilitation Strategies for Infants


Understanding Rare Diseases: A Journey Through Diagnosis and Symptoms

The difficult next step? Hello Doctor: My illness seems to have started in the first year of junior high school. I don't know why my legs began to feel weak, making it difficult to run or perform any vigorous repetitive movements, and my muscles are prone to strains. Shortly...


Dr. Chen Shunsheng Reply:
I have not seen a patient, so I cannot directly tell you what disease it is. However, I can introduce you to spinal anterior horn cell degeneration disorders: Spinal muscular atrophy (SMA) is a group of diseases caused by the degeneration of anterior horn cells (motor neurons) in...

[Read More] Understanding Rare Diseases: A Journey Through Diagnosis and Symptoms


Understanding Numbness in Hands and Feet During Heat and Illness

I would like to ask about the issues of hand and foot numbness? Hello, I would like to ask a question. My body seems to have a strange reaction; whenever I exercise under the hot sun, I experience numbness in my hands and feet, particularly in the fingertips. This sensation becom...


Dr. Chen Shunsheng Reply:
Exercising under the hot sun can lead to numbness in the fingertips and toes, which becomes more severe during fever. This is likely due to temperature sensitivity polyneuropathy. The abnormal proteins produced during heat exposure, particularly pyrogenic abnormal proteins (pyopr...

[Read More] Understanding Numbness in Hands and Feet During Heat and Illness


Understanding Epilepsy: Seeking Diagnosis and Resources After a Seizure

Epilepsy A few days ago, I visited a clinic due to nasal congestion and reflux symptoms. After receiving injections of Dexamethasone and Ketoprofen from the nurse, I experienced dizziness and lost consciousness before I could inform anyone. After being treated, the doctor told me...


Dr. Ye Poxiu Reply:
(1) In simple terms, a diagnosis of epilepsy can be made if a patient experiences multiple episodes of similar seizures or altered consciousness, and other causes such as drug effects or metabolic disorders have been ruled out. (2) An accurate diagnosis of epilepsy relies on a th...

[Read More] Understanding Epilepsy: Seeking Diagnosis and Resources After a Seizure


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:
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:
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 Autonomic Nervous System Disorders: Symptoms and Solutions

Autonomic nervous system dysfunction Hello, Dr. Yeh: About two months ago, I experienced an increased heart rate, palpitations, and chest tightness, and I became very easily anxious. I thought it might be hyperthyroidism or heart disease. I consulted a doctor who prescribed medic...


Dr. Ye Poxiu Reply:
Hello: 1. There are numerous conditions that can lead to autonomic nervous system dysfunction, such as acute illnesses causing discomfort, hyperthyroidism, physiological dysfunction, insufficient sleep and rest, chronic stress, anxiety or agitation, and medications that are uns...

[Read More] Understanding Autonomic Nervous System Disorders: Symptoms and Solutions


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:
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:
Please visit the Family Medicine outpatient clinic for consultation.

[Read More] Understanding Rare Diseases: Why Do I Feel Cold in Winter?


Which Medical Specialty Should I See for Unexplained Bruising?

I don't know which department to visit? Hello, Doctor: Recently, I've been experiencing bruising on my lower body with just a light touch, regardless of the specific area, and the bruises are quite large. I would like to know which department I should visit to avoid del...


Dr. Chen Shunsheng Reply:
First, the hematology department performed surgery to place a stent. The stent was removed two years ago, and this is unrelated.

[Read More] Which Medical Specialty Should I See for Unexplained Bruising?


Improving Quality of Life for Patients with Ataxia: Tips and Treatments

How to improve the condition? Dear Dr. Chen, I would like to express my gratitude to Dr. Lu Ching-Song and his colleagues at Linkou Chang Gung Memorial Hospital for their assistance. My medical record number is 1457244, and it has been confirmed that I am a patient with Spinocer...


Dr. Chen Shunsheng Reply:
There are no specific curative medications available. Typically, antioxidants such as vitamin E and coenzyme Q10 or its derivative idebonone are used for symptomatic treatment. Symptomatic management may involve trialing medications like sodium valproate, baclofen, and L-dopa. Or...

[Read More] Improving Quality of Life for Patients with Ataxia: Tips and Treatments


Exploring Treatment Options for Duchenne Muscular Dystrophy in Children

Progressive muscular atrophy The child is three and a half years old and was diagnosed last year with "Duchenne Muscular Dystrophy." Are there any more aggressive treatment options available now? The pediatric neurologist prescribed "Prednisone 5mg SHIONOGI." ...


Dr. Xiao Huibin Reply:
Hello, according to online sources, Duchenne Muscular Dystrophy (DMD) is an X-linked genetic disorder caused by the deletion of the dystrophin gene, leading to defective production of the muscle protein dystrophin, which results in muscle degeneration and atrophy. The only preven...

[Read More] Exploring Treatment Options for Duchenne Muscular Dystrophy in Children


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:
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:
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:
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




Rare Disease FAQ

Brittle Bone Disease Chromosomes
Congenital Metabolic Disorders Disease Name
Epilepsy G6Pd Deficiency
Hair Height
Ichthyosis Kawasaki Disease
Muscular Diseases Neurological Diseases
Neurology Newborn Screening
Osteogenesis Imperfecta Other
Rare Diseases Rare Disease Treatment
Tourette Syndrome Tumor
Whole Exome Sequencing Wilson'S Disease