Understanding Cyclic Vomiting Syndrome in a 5-Year-Old Child
Periodic Vomiting Syndrome in a Five-Year-Old Child My son was born in April 2019, and when he was over a year old, he began experiencing vomiting, accompanied by abdominal pain, headaches, and weakness leading to falls. I recorded the dates of the episodes and observed a 42-day ...
Dr. Liu Qingshan Reply:
Based on your description, your son began experiencing vomiting at over one year old, accompanied by abdominal pain, headaches, and weakness leading to falls. He is currently taking Domperidone, Neuquinon, and Pelion to manage his symptoms. The possible causes and recommendations...[Read More] Understanding Cyclic Vomiting Syndrome in a 5-Year-Old Child
Understanding Genetic Testing Risks: Krabbe Disease and Egg Donation Concerns
The genetic testing report indicates autosomal recessive inheritance, raising concerns about its potential impact on the next generation? A family member of advanced age is expected to undergo egg donation. Genetic testing has revealed that one party has Krabbe disease (Globoid C...
Dr. Jian Yingxiu Reply:
Hello: Your understanding is very accurate. In principle, carriers of recessive genes do not exhibit symptoms; they only have the potential to pass these genes on to their offspring. Every individual carries multiple recessive genetic variations. It is important to note that if t...[Read More] Understanding Genetic Testing Risks: Krabbe Disease and Egg Donation Concerns
Understanding 15q11.2 Microdeletion Syndrome: Risks and Considerations
15q11.2 microdeletion on amniotic fluid chip? Chromosomal microarray (750K SNP Array) screening report analysis results: arr|GRCh38| 15q11.2(22582282_23370622)x1. The male subject has a microdeletion of approximately 788 kb in the long arm of chromosome 15 at the q11.2 region. Th...
Dr. Jian Yingxiu Reply:
Hello: It is advisable to consult this report in conjunction with the results from the parents. Please bring the reports of all three individuals to the genetic counseling clinic at any medical center for an in-person discussion.[Read More] Understanding 15q11.2 Microdeletion Syndrome: Risks and Considerations
Understanding Nerve Pain and Tingling: Possible Rare Disease Insights
Numbness and pain in the hands and feet? Hello Doctor, I am a 43-year-old male. Eight years ago, I underwent an MRI that showed compression at the cervical intervertebral discs C3-4-5-6, which caused mild left arm pain, slight weakness, and numbness in the left fingers. After phy...
Dr. Chen Shunsheng Reply:
Hello, 1. It is evident that you require a comprehensive neurology consultation, which cannot be resolved online. 2. This is unrelated to multiple sclerosis. 3. Concurrently, there are multiple cervical and lumbosacral radiculopathies that need thorough investigation for unde...[Read More] Understanding Nerve Pain and Tingling: Possible Rare Disease Insights
Understanding ALS: Seeking Expert Advice for Muscle Weakness Concerns
Amyotrophic Lateral Sclerosis (ALS) and Expert Recommendations Hello, I started experiencing twitching in my right triceps and right calf on August 1st, which feels like something is crawling under the skin, but it is not painful. Additionally, I have gradually noticed weakness a...
Dr. Chen Shunsheng Reply:
Hello, you have already been evaluated by several physicians. You need to have a consultation with a subspecialty in neuromuscular medicine at a diagnostic medical center, which some centers refer to as peripheral neurology. In Taipei, I recommend: Professor Yang Zhi-Chao from Na...[Read More] Understanding ALS: Seeking Expert Advice for Muscle Weakness Concerns
Exploring the Possibility of Multiple Sclerosis in Rare Disease Cases
Possible Multiple Sclerosis Hello Doctor, I am a 43-year-old male. Eight years ago, I underwent an MRI that showed compression in my cervical intervertebral discs C3-4-5-6. At that time, I experienced mild pain and weakness in my left arm, along with numbness in my left fingers. ...
Dr. Lai Xiangrong Reply:
Hello: Patients with multiple sclerosis may experience vision impairment (optic neuritis), which is one of the most common symptoms. Other symptoms include limb weakness, balance disorders, mobility issues, numbness, sensory abnormalities, slurred speech, dizziness, and dysfuncti...[Read More] Exploring the Possibility of Multiple Sclerosis in Rare Disease Cases
Understanding Antinuclear Antibodies: Insights into Rare Disease Symptoms
Antinuclear antibodies (ANA) Hello, Doctor. Recently, after being diagnosed for the first time over a month ago, I experienced unexplained swelling in my toe, but my uric acid levels were normal. After the toe improved, I started developing hives for unknown reasons, and I also n...
Dr. Lin Sixie Reply:
It appears to be within the normal range, but it is recommended to continue monitoring in the rheumatology and immunology department.[Read More] Understanding Antinuclear Antibodies: Insights into Rare Disease Symptoms
Understanding Inherited Thrombasthenia: Risks and Vitamin K for Pregnancy
Regarding the genetic issues of Thrombasthenia? Hello, doctor. I am a 39-year-old male who has had a bleeding disorder since childhood. During my military service health examination, I underwent special tests and was diagnosed with a rare case of thrombocytopenia. I used to bruis...
Dr. Jian Yingxiu Reply:
Hello: Your condition needs to be clarified first to determine whether it is caused by a genetic mutation leading to Thrombasthenia. If so, we can then discuss the inheritance patterns. It is recommended that you consult with genetic counseling centers in your area to discuss the...[Read More] Understanding Inherited Thrombasthenia: Risks and Vitamin K for Pregnancy
Sudden Weakness: Understanding Rare Diseases and Nutritional Impact
Sudden weakness? Doctor, I have had diarrhea for the past two days and after taking medication, it has improved. However, I feel extremely weak all over, especially in my limbs. I used to be able to sit and take off my pants, but now I can't even support my body with one han...
Dr. Jian Yingxiu Reply:
Spinal muscular atrophy and many neuromuscular diseases have indeed been observed to experience rapid degeneration following acute illnesses (such as infections). Some individuals may regain partial function after recovering from the acute condition. Please continue to monitor yo...[Read More] Sudden Weakness: Understanding Rare Diseases and Nutritional Impact
Concerns About Medication Overdose in 9-Month-Old with Rare Disease
Will a 9-month-old infant experience a drug overdose if medication is administered early? My son is 9 months old and has KCNT1. He is taking the following antiepileptic medications: Quinidine / 0.2 tablets (three times a day at 9 AM, 3 PM, and 9 PM), Vigabatrin / 0.25 tablets (9 ...
Dr. Lai Xiangrong Reply:
The child's medication is currently administered twice a day, with a 12-hour interval. The efficacy of the medication is related to its metabolic half-life in the body after administration. For instance, some antihypertensive medications have a longer half-life and can be ta...[Read More] Concerns About Medication Overdose in 9-Month-Old with Rare Disease
Understanding Carrier Status and Symptoms of G6PD Deficiency in Family
Will carriers of G6PD deficiency be affected? I am a mother who gave birth to a son with G6PD deficiency, and that was when I discovered that I am a carrier. When my daughter was born, she was also tested, and the report indicated that she does not have G6PD deficiency. I would l...
Dr. Jian Yingxiu Reply:
If a woman needs to confirm whether she is a carrier of G6PD deficiency, she may consider undergoing genetic testing. However, carriers generally do not exhibit symptoms. Whether your daughter's hematuria and body temperature are related to G6PD deficiency should be evaluate...[Read More] Understanding Carrier Status and Symptoms of G6PD Deficiency in Family
Understanding Ehlers-Danlos Syndrome Type IV: Symptoms, Diagnosis, and Next Steps
Ehlers-Danlos Syndrome Type IV Hello Doctor, I, along with my twin sister, my mother, and my grandmother, can all bend our fingers backward 180 degrees to touch the back of our hands, and we have noticeable hyperextension in our knees. Our arms are also clearly not straight when ...
Dr. Jian Yingxiu Reply:
Hello: It is recommended to visit a nearby medical center's genetic counseling clinic to discuss whether genetic testing is necessary to confirm if there are any specific variations in the fibrinogen gene sequence. If relevant genetic mutations can be identified, long-term m...[Read More] Understanding Ehlers-Danlos Syndrome Type IV: Symptoms, Diagnosis, and Next Steps
Clinical Significance of Abnormal Coproporphyrin Tests in Rare Diseases
Abnormal coproporphyrin test results? Hello, doctor. I would like to ask about the clinical significance of abnormal coproporphyrin tests. Thank you for your response. The doctor mentioned a suspicion of a rare disease known as porphyria, but only abnormal urinary coproporphyrin ...
Dr. Jian Yingxiu Reply:
Hello: Currently, for the diagnosis of the rare disease porphyria, genetic testing can be used to confirm whether the criteria for reporting are met. However, not all patients will receive definitive answers from genetic testing. Please discuss with your physician the necessity o...[Read More] Clinical Significance of Abnormal Coproporphyrin Tests in Rare Diseases
Understanding Marfan Syndrome: Diagnosis and Specialist Guidance
Marfan syndrome I am unsure if there are any objective methods for diagnosing this condition or which specialty clinic to consult. A dermatologist had previously suspected my condition, while a cardiologist at the hospital did not consider it to be within their expertise. Is the ...
Dr. Jian Yingxiu Reply:
Marfan syndrome traditionally has a set of diagnostic criteria based on symptoms, with higher scores indicating a closer resemblance to the condition. However, current genetic testing can identify pathogenic genes associated with Marfan syndrome as well as other connective tissue...[Read More] Understanding Marfan Syndrome: Diagnosis and Specialist Guidance
Understanding Persistent Trigeminal Neuralgia: Causes and Treatment Options
Trigeminal neuralgia with persistent paroxysmal pain? Hello, Doctor: My father is currently 66 years old and has been experiencing persistent intermittent stabbing pain around the second branch of the trigeminal nerve. This is not typical trigeminal neuralgia, as he reports that ...
Dr. Chen Shunsheng Reply:
Priority should still be given to trigeminal neuralgia, or adjusting the medication should take precedence. Organize the medication history, and if necessary, consider using a combination therapy for adjustments. It is also important to rule out the possibility of phantom pain.[Read More] Understanding Persistent Trigeminal Neuralgia: Causes and Treatment Options
Amniotic Fluid Chip Testing for DMD: What You Need to Know
Amniotic fluid chip testing Hello Doctor, I would like to ask if amniotic fluid chip testing can detect Duchenne Muscular Dystrophy (DMD)? I found information online stating that this condition only occurs in males, as females have two X chromosomes that can compensate for each o...
Dr. Jian Yingxiu Reply:
Hello: I apologize for causing you concern. This question can be answered in two parts: 1. Can amniotic fluid chips detect DMD? Answer: Currently, the amniotic fluid chips available on the market that claim to detect DMD are likely only able to identify certain types of DMD. Th...[Read More] Amniotic Fluid Chip Testing for DMD: What You Need to Know
Understanding Unexplained Low Copper Levels After Genetic Testing
Even after genetic testing, the cause could still not be identified? Hello Doctor, a few years ago I had a neurological examination due to tremors and myoclonus, and my blood levels of copper and ceruloplasmin were low, with copper around 40 and ceruloplasmin at 10, but my urinar...
Dr. Jian Yingxiu Reply:
Genetic test results should be interpreted in conjunction with clinical symptoms and biochemical tests. Sometimes, abnormalities in clinical symptoms and biochemical tests may require follow-up to observe any changes. It is recommended that you bring your previous test results an...[Read More] Understanding Unexplained Low Copper Levels After Genetic Testing
Understanding ANA Test Results: Implications for Rare Diseases in Children
Immunoglobulin antibody index My daughter (8 years old) recently experienced abnormal hair loss and underwent blood tests at the hospital. The results showed an ANA titer of 1:640, with further testing revealing 1:640 + Homogeneous (AC-1) and 1:320 + Centromere (AC-3). I would li...
Dr. Lin Sixie Reply:
Hello Peggy: 1. Do these two indices indicate that scleroderma will definitely develop in the future? No. 2. What other tests are needed? Symptoms that are more commonly seen in pediatric scleroderma include localized thickened, shiny rashes or associated joint stiffness. If ther...[Read More] Understanding ANA Test Results: Implications for Rare Diseases in Children
Understanding 16p13.3 Microduplication: Implications for Fetal Health
Abnormalities in amniotic fluid chip analysis, with microduplication and microdeletion in the p13.3 region of chromosome 16? Hello Doctor, I am a 30-year-old first-time mother who is 20 weeks pregnant. I have Graves' disease, which is well-controlled with medication. I have ...
Dr. Jian Yingxiu Reply:
Hello: Anticipating new life yet encountering such uncertainty can indeed be unsettling. It seems you have already gathered all the information, but due to incomplete penetrance, even if one parent has similar chromosomal variations, there is still a chance that the baby may expe...[Read More] Understanding 16p13.3 Microduplication: Implications for Fetal Health
Understanding Huntington's Disease: Risks, Inheritance, and Family Impact
Huntington's disease Hello Doctor, my mother has Huntington's disease, and my aunt passed away from it when she was young. My grandfather also died from Huntington's disease, and they all showed symptoms. However, my uncle did not develop the disease. I researched ...
Dr. Lai Xiangrong Reply:
In recent years, there have been further advancements in the genetics of chorea, particularly Huntington's disease, which can now be tested in Taiwan. The testing and diagnostic process involves numerous ethical considerations that need to be fully understood before proceedi...[Read More] Understanding Huntington's Disease: Risks, Inheritance, and Family Impact