Understanding Behçet's Syndrome: Symptoms, Prevention, and Genetic Risks
What is Bessy Syndrome? Dear Professor Lin, My younger brother is 30 years old and has recently been diagnosed with Behçet's Syndrome by a physician. The doctor informed us that it is an autoimmune disease. Two years ago, he experienced iritis, and recently he has had sever...
Dr. Lin Qingyuan Reply:
Hello: In response to your questions, here are my replies: (1) Please come for an outpatient visit to determine how many organs are affected and the disease activity. (2) The presence of blood in the semen can be treated. (3) It may be hereditary. I need to know your family histo...[Read More] Understanding Behçet's Syndrome: Symptoms, Prevention, and Genetic Risks
Unexplained Bruising on Hands: Possible Causes and When to Seek Help
Unexplained bruising on the hand? If there are unexplained bruises on the hand, it could be indicative of several conditions. Initially, there may be swelling that subsides after a couple of days, but the bruising persists. To seek medical evaluation, you should schedule an appoi...
Dr. Chen Shunsheng Reply:
Consult Internal Medicine, Hematology.[Read More] Unexplained Bruising on Hands: Possible Causes and When to Seek Help
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:
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:
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 Epilepsy: Prevalence, Genetics, and Medication Concerns
Issues related to epilepsy? Hello, Dr. Yeh! I am a patient with mild epilepsy. I used to take medication for over two years, but since I haven't had any seizures afterward, I stopped taking the medication on my own. I know this is wrong, and I will return for a check-up soon...
Dr. Ye Poxiu Reply:
Hello: (1) Only a small portion of epilepsy cases are classified as genetically high-risk epilepsy. Please do not worry. (2) To determine if it falls under genetically high-risk epilepsy, you can consult your attending physician to discuss the causes of your epilepsy in detail. (...[Read More] Understanding Epilepsy: Prevalence, Genetics, and Medication Concerns
Understanding Trisomy 13: Diagnosis, Implications, and Treatment Options
Postnatal screening for chromosomal abnormalities? The female infant was found to have a partial trisomy of chromosome 13 upon examination. What disease could this indicate? Are there any medical treatments available (since neither my wife nor I have any family history of abnorma...
Dr. Lin Xuanpei Reply:
In the case of a partial trisomy of chromosome 13, it is essential to first determine whether the additional material is located on the short arm or the long arm, and whether it represents significant chromosomal material or is merely a benign duplication of the short arm of chro...[Read More] Understanding Trisomy 13: Diagnosis, Implications, and Treatment Options
Understanding Favism: Nutrition and Management for Patients
Regarding Favism (G6PD deficiency) Hello Dr. Zhu: While G6PD deficiency may not be classified as a rare disease, the symptoms caused by exposure to camphor oil or ingestion of fava beans (hemolysis) can be quite frightening. I have seen online that individuals with G6PD deficienc...
Dr. Zhu Shaoying Reply:
Hello: Favism is a genetic defect primarily located on the X chromosome, inherited in a sex-linked recessive manner, which is why the majority of patients are male. Patients lack the enzyme "glucose-6-phosphate dehydrogenase" (G6PD), and when they take oxidative medicat...[Read More] Understanding Favism: Nutrition and Management for Patients
Understanding Foot Pain: Causes and Solutions for Morning Discomfort
Soreness in the soles of the feet? I have been experiencing a problem for the past few months. Every time I get out of bed or after sitting for a long time, the first step I take causes pain and discomfort in the soles of my feet, but it goes away after a while. What could be the...
Dr. Chen Shunsheng Reply:
When getting out of bed or after sitting for a long time, the soles of my feet feel very sore when I take the first step, but it goes away after a while. Possible causes include: 1. Plantar fasciitis or tendonitis - consult an orthopedic specialist. 2. If the orthopedic evaluatio...[Read More] Understanding Foot Pain: Causes and Solutions for Morning Discomfort
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:
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:
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 Dance Disorder: Rare Disease Insights and Support Options
Chorea My eldest son just turned twenty this year. When he was in the first year of junior high school, he frequently exhibited strange movements, with episodes of his limbs freezing and being unable to move suddenly. A neurologist diagnosed him with chorea, but the information I...
Dr. Chen Shunsheng Reply:
Possible diagnoses based on the symptoms described include: 1. Paroxysmal choreoathetosis - can be controlled with medication. 2. Tic disorder or Tourette syndrome - can be controlled with medication. 3. Sydenham's chorea - can be treated with medication. 4. Huntington'...[Read More] Understanding Dance Disorder: Rare Disease Insights and Support Options
Understanding Chest Pain While Breathing: A Rare Condition Explained
Sometimes, there is a sharp pain around the heart when breathing? I am currently in my second year of high school. Since I was in the third year of junior high, I have occasionally felt a sharp pain around my heart when I breathe. During these episodes, I tend to pat my chest, wh...
Dr. Xie Kaisheng Reply:
Anonymous High School Student: Hello, thank you for your email inquiry. Chest pain is a common condition in pediatric cardiology, and its possible causes include heart disease, costochondritis, gastrointestinal disorders, pleuritis, asthma, and thoracic diseases, among others. A ...[Read More] Understanding Chest Pain While Breathing: A Rare Condition Explained
How to Apply for Major Illness Card for Rare Diseases
How to apply for a major illness card for rare diseases? How to apply for a major illness card for rare diseases.
Dr. Lin Xiujuan Reply:
Please have a specialist physician issue a medical certificate, which can be submitted to the National Health Insurance Administration within 30 days.[Read More] How to Apply for Major Illness Card for Rare Diseases
Understanding the Types of Rare Diseases: Genetic vs. Organ-Based Conditions
What are systemic and genetic rare diseases? Hello Doctor: My child has been diagnosed with congenital intestinal neurodevelopmental disorder, which is classified as atypical and is an extremely rare disease, as diagnosed by Dr. Wang Nianlu. He has undergone three surgeries, all ...
Dr. Lin Xuanpei Reply:
The congenital intestinal neurodevelopmental disorder that the inquirer’s child suffers from has been confirmed by Dr. Wang Nianlu to be a longer segment form of congenital aganglionic megacolon, commonly known as "congenital megacolon" (medically referred to as Hirschs...[Read More] Understanding the Types of Rare Diseases: Genetic vs. Organ-Based Conditions
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:
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
How to Schedule an Appointment for Rare Genetic Disorders?
How to make an appointment for a contracted outpatient service? Dear Dr. Lin, Hello. My daughter has been experiencing recurrent hair breakage. I previously consulted Dr. Jian (Jian Ying-Hsiu), who suggested that I take her to a pediatric genetics clinic. Since I live in Tainan ...
Dr. Lin Xiujuan Reply:
Due to issues related to hair, it is within the scope of dermatologists. The medical team at the Chang Gung Genetic Center recommends that you consult with Dr. Chao Hsiao-Chiu or Dr. Lee Yu-Yun in dermatology. If you wish to schedule a special appointment for genetic counseling a...[Read More] How to Schedule an Appointment for Rare Genetic Disorders?
Understanding Galactosemia: Genetic Causes and Parental Influence
Galactosemia Galactosemia is caused by genetic mutations. If a child's father has a history of drug use but has since quit, the likelihood of genetic issues leading to galactosemia would not be significantly higher in males compared to females. Galactosemia is an inherited m...
Dr. Lin Xiujuan Reply:
Galactosemia is an autosomal recessive disorder caused by both parents carrying one defective gene. With proper dietary management and regular follow-up appointments, patients typically have a good prognosis.[Read More] Understanding Galactosemia: Genetic Causes and Parental Influence
Understanding Glycogen Storage Disease Type III: Can Cord Blood Help?
Glycogen storage disease type III My daughter is a patient with Glycogen Storage Disease Type III, and I am currently pregnant with my second child. I am wondering if the umbilical cord blood from the newborn could be beneficial for my daughter in the future. She is currently thr...
Dr. Lin Xiujuan Reply:
Currently, umbilical cord blood cannot treat glycogen storage disease. The storage period for cord blood in Taiwan is approximately 20 to 50 years, unless a cord blood transplantation method for this disease is developed within that timeframe. Height is related to the disease con...[Read More] Understanding Glycogen Storage Disease Type III: Can Cord Blood Help?
Understanding Rare Brain Disorders: A Patient's Struggle with Unexplained Symptoms
Brain issues? Hello, Dr. Chen! I'm not sure if you understand my situation. I'm very troubled; normally, I can live like anyone else, but when the situation arises, I can't do anything normally. My brain feels like it's not responding, and I can't even ha...
Dr. Chen Shunsheng Reply:
What you need is further diagnosis; please consult with a neurologist and a psychiatrist. I cannot diagnose your condition based on your description.[Read More] Understanding Rare Brain Disorders: A Patient's Struggle with Unexplained Symptoms
Prenatal Screening for Mucopolysaccharidosis: What You Need to Know
Mucopolysaccharidosis - Prenatal Diagnosis Hello Dr. Lin, My husband's elder brother's son has mucopolysaccharidosis and is currently about 7 years old, receiving regular treatment at Mackay Memorial Hospital. I am currently 11 weeks pregnant with my second child; my f...
Dr. Lin Xuanpei Reply:
It is essential to first determine which type of mucopolysaccharidosis (MPS) your husband's nephew has, as the inheritance patterns differ among the various types. However, based on your situation, it can be inferred that whether it is the X-linked recessive type (MPS II) or...[Read More] Prenatal Screening for Mucopolysaccharidosis: What You Need to Know