Rare Disease Q&A - Page 23

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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:
Please consult a gastroenterologist at a medical center.

[Read More] Finding Crohn's Disease Specialists in Taoyuan, Taiwan: A Guide for Patients


Understanding Ichthyosis: Genetic Risks and Treatment Concerns for Expecting Parents

Ichthyosis vulgaris再問 Dear Dr. Hou, I apologize for bothering you again. My question yesterday was not very clear, which led to some misunderstandings. I would like to ask again for your guidance. The patient is my sister-in-law, and she has not informed us about her condition, ...


Dr. Hou Jiawei Reply:
If the mother has this condition, the probability of the fetus inheriting it is 1 in 2 (or there is a 50% chance for a male child). The likelihood of more severe symptoms is not high. The medications used or applied are unlikely to significantly affect fetal development, but it i...

[Read More] Understanding Ichthyosis: Genetic Risks and Treatment Concerns for Expecting Parents


Understanding Ichthyosis: Genetic Risks and Pregnancy Testing Options

Ichthyosis Hello Dr. Hou: One of my family members has been diagnosed with ichthyosis (mild skin dryness) and is currently 12 weeks pregnant. What is the likelihood of the fetus inheriting this condition? Are there any methods to test for this condition during pregnancy? Addition...


Dr. Hou Jiawei Reply:
Ichthyosis can vary in severity. The milder forms are often inherited in an autosomal dominant manner (if one parent is affected, there is a 50% chance for the fetus to inherit the condition), while the more severe forms are typically inherited in an autosomal recessive manner (w...

[Read More] Understanding Ichthyosis: Genetic Risks and Pregnancy Testing Options


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:
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 Myasthenia Gravis: Recurrence, Treatment, and Life Expectancy

Myasthenia Gravis Hello Dr. Chen: I would like to ask about myasthenia gravis. I previously underwent surgery for a thymoma; is there a chance of recurrence? Is it not curable? What is the expected lifespan for someone with this condition? Best regards, Dai Fuyuan.


Dr. Chen Shunsheng Reply:
Myasthenia Gravis Introduction: Over 95% of cases of Myasthenia Gravis (MG) are classified as autoimmune diseases. In simple terms, this condition arises when T lymphocytes in the body fail to recognize the acetylcholine receptors (ACh receptors) at the neuromuscular junction, le...

[Read More] Understanding Myasthenia Gravis: Recurrence, Treatment, and Life Expectancy


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:
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:
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:
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?


Understanding Rare Hair Growth Disorders in Children: A Case Study

Repeated hair growth and breakage? Hello, I have three children. The eldest is a girl, and the second and third are boys. My daughter is 9 years old this year, but her hair has not been growing since she was little. It grows but only stays on the scalp for a short time (about six...


Dr. Jian Yingxiu Reply:
There are indeed some genetic disorders that can cause recurrent hair loss. Please bring the diagnosis from your dermatologist (preferably including microscopic reports of the hair and scalp biopsy reports) and seek the advice of a pediatrician at a nearby genetic counseling cent...

[Read More] Understanding Rare Hair Growth Disorders in Children: A Case Study


Is Adrenoleukodystrophy Considered a Chronic Disease?

Regarding Adrenoleukodystrophy (ALD) Is adrenal leukodystrophy considered a chronic disease?


Dr. Jian Yingxiu Reply:
Congenital metabolic disorders (52) are classified as chronic diseases.

[Read More] Is Adrenoleukodystrophy Considered a Chronic Disease?


Understanding Juvenile Xanthogranuloma vs. Malignant Yolk Sac Tumor: A Parent's Concern

"Juvenile Xanthogranuloma" Thank you for the response from Dr. Lin Wei-ren, the pediatrician. However, I do not quite understand why Dr. Lin mentioned that my daughter might have a malignant yolk sac tumor, as we have already undergone surgery and the pathology report i...


Dr. Qian Xinnan Reply:
<ol> <li>"Juvenile Xanthogranuloma" is the correct translation for "幼年型黃色肉芽腫" (also known as Nevoxanthoendothelioma).</li> <li>This condition was first described by a British scholar in 1905. It is a benign fibrous tissue tumor that com...

[Read More] Understanding Juvenile Xanthogranuloma vs. Malignant Yolk Sac Tumor: A Parent's Concern


Understanding Rare Neurological Symptoms: Seeking Medical Advice

Please let me know what specific medical issue or concern you would like me to assist you with? Hello Doctor, I would like to ask a question. Since high school, I have experienced a strange phenomenon where my left side sometimes suddenly becomes stiff, and I involuntarily clench...


Dr. Chen Shunsheng Reply:
It may be Paroxysmal Kinesigenic Choreoathetosis (PKC), but please consult a neurologist for diagnosis and treatment. Paroxysmal Kinesigenic Choreoathetosis, as the name suggests, is characterized by paroxysmal and sudden episodes that occur when a person initiates movement, su...

[Read More] Understanding Rare Neurological Symptoms: Seeking Medical Advice


Understanding Juvenile Xanthogranuloma: Seeking Answers for Rare Tumors in Children

Juvenile Xanthogranuloma My daughter is currently 3 years and 8 months old, and she has developed a tumor near her sacrum. Eight months ago, she underwent surgery to remove it, and the biopsy revealed it to be a "juvenile xanthogranuloma." I have consulted several docto...


Dr. Qian Xinnan Reply:
Chief Pediatrician Lin Wei-Jen's response: Hello, Mom: This condition may be a malignant yolk sac tumor. Due to its malignancy, surgical intervention is often necessary, and sometimes chemotherapy is required as well. If you need further information, you can bring your child...

[Read More] Understanding Juvenile Xanthogranuloma: Seeking Answers for Rare Tumors in Children


Is This a Tumor? Understanding Rare Conditions and Symptoms

Is this considered a tumor? Hello, Dr. Qian. I am a college student. Yesterday morning, after I left home, I felt a slight pain in the right side of my armpit. At first, I thought it might be due to dry weather causing some skin irritation. However, last night while I was showeri...


Dr. Qian Xinnan Reply:
Staying up late is not good for the body, but there is no evidence that it causes tumors. This small hard lump could also be a sign of folliculitis. If it enlarges or continues to cause discomfort, it is recommended that patients visit our outpatient clinic for further examinatio...

[Read More] Is This a Tumor? Understanding Rare Conditions and Symptoms


Understanding the Symptoms and Conditions of Cast Baby Disease

What is the condition known as "cast baby"? I would like to ask what kind of condition "cast baby" refers to, and what are some of its symptoms or characteristics?


Dr. Jian Yingxiu Reply:
Hereditary cytoplasmic body myopathy (also known as "cast baby syndrome")

[Read More] Understanding the Symptoms and Conditions of Cast Baby Disease


Understanding Marfan Syndrome Symptoms and Important Considerations

Marfan syndrome symptoms Marfan syndrome is a genetic disorder that affects the body's connective tissue. Symptoms may vary widely among individuals, but common signs include: 1. **Tall Stature**: Individuals often have a tall and slender build. 2. **Long Limbs and Fingers*...


Dr. Jian Yingxiu Reply:
Marfan Syndrome

[Read More] Understanding Marfan Syndrome Symptoms and Important Considerations


Understanding Tourette Syndrome Medications: Benefits and Side Effects

Medications for Tourette Syndrome Hello~~~ Currently, my daughter is using Tourette syndrome medication: --- Risperidone oral solution --- The doctor said it is used for control. Is it to control her tics? But what are its side effects? Is there any problem with long-term use? Th...


Dr. Chen Zhujin Reply:
I apologize for the unclear question. Currently, the pharmacological treatment for Tourette syndrome is relatively conservative, meaning that due to the generally good prognosis, medication is not always necessary. It is advisable to discuss this further with a physician. Additio...

[Read More] Understanding Tourette Syndrome Medications: Benefits and Side Effects


Understanding Urea Cycle Disorders: Prognosis and Treatment Options

Urea cycle disorder If a newborn, just three days old, develops a urea cycle disorder due to impaired arginine metabolism, with blood ammonia levels previously reaching around 4000-5000 and now reduced to 300-400, the physician plans to apply for a medication under a special prog...


Dr. Lin Xuanpei Reply:
To the consulting netizens: The condition of the sick baby may not be very optimistic, but we should still do our best to cooperate with the attending physician and the medical team to fight for the child's chance of survival. These types of diseases are all classified as au...

[Read More] Understanding Urea Cycle Disorders: Prognosis and Treatment Options


Understanding Long-Chain 3-Hydroxy-CoA Dehydrogenase Deficiency in Children

Please help Xiaorong grow up healthy? Dear Dr. Hsu, I hope this message finds you well. My daughter, Xiaorongrong, was hospitalized at the end of October due to bronchiolitis. During her hospital stay, she underwent a series of tests. Upon discharge, we received a lab report fro...


Dr. Xu Shanjing Reply:
Consultation in the outpatient clinic has been conducted in person.

[Read More] Understanding Long-Chain 3-Hydroxy-CoA Dehydrogenase Deficiency in Children


Understanding Hyperammonemia: Causes and Implications for Newborns

What is hyperammonemia? Hyperammonemia is a condition characterized by elevated levels of ammonia in the blood. It can occur due to various reasons, including genetic disorders that affect the urea cycle, liver dysfunction, or certain metabolic disorders. In newborns, it is often...


Dr. Lin Ruli Reply:
Hyperammonemia is caused by the inability to excrete ammonia, a byproduct of amino acid metabolism. Abnormalities in urea metabolism, organic acid metabolism, and liver function can all lead to hyperammonemia. Please seek medical attention promptly.

[Read More] Understanding Hyperammonemia: Causes and Implications for Newborns




Rare Disease FAQ

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