Managing Galactosemia in Premature Infants: Formula Options and Resources
Galactosemia in premature newborns Hello, my baby is a premature infant and is currently 3 months old. He has been diagnosed with galactosemia. After drinking Enfamil Hydrolyzed 2 premature infant formula, he has been experiencing frequent vomiting and spitting up. After a consul...
Dr. Jian Yingxiu Reply:
Currently, in Taiwan, the only formula that is completely lactose-free among lactose-free milk powders is "Abbott's Similac Soy Isomil Infant Formula (Lactose-Free Formula)." This product can be purchased at general pharmacies, and here is the link for more informa...[Read More] Managing Galactosemia in Premature Infants: Formula Options and Resources
Can You Contract Bloodborne Diseases from Nail Salons?
Blood infection Hello, doctor. A few days ago, I went to get my nails done and ended up bleeding. I'm concerned about the possibility of contracting a bloodborne disease since I didn't check if the nail clippers at the salon had dried blood on them.
Dr. Lin Sixie Reply:
It is recommended to schedule an appointment with an infectious disease specialist for consultation.[Read More] Can You Contract Bloodborne Diseases from Nail Salons?
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 Spinal AV Malformations: Symptoms, Causes, and Management
Spinal arteriovenous malformation (AVM) Hello Doctor, I have been experiencing difficulty walking normally, causing my body to lean to the left. After a visit to the family medicine department for blood tests, I was advised to drink more water. I then consulted a neurologist who ...
Dr. Liu Qingshan Reply:
Based on your symptoms, it is understandable that you are experiencing difficulties in your daily life. However, according to your description, a diagnosis from a neurologist seems appropriate. Cervical or lumbar spinal arteriovenous malformations can cause compression of the neu...[Read More] Understanding Spinal AV Malformations: Symptoms, Causes, and Management
Understanding ANA Test Results: Normal vs. Abnormal Findings Explained
ANA (Antinuclear Antibody) Doctor, could you please tell me if these test results are normal or abnormal? ANA: 1:40 (-) (1:40 (-)) ANA Pattern: - ANA ≥ 1:160 (+) suggestive of clinical significance.
Dr. Lin Sixie Reply:
Hello: A positive test result requires further diagnosis by a clinical physician.[Read More] Understanding ANA Test Results: Normal vs. Abnormal Findings Explained
Should You Get Tested Again for Dry Syndrome Symptoms?
Symptoms of Sjögren's syndrome? Two years ago, I had symptoms of Sjögren's syndrome and had blood tests done at a rheumatology and immunology department, which came back normal. Recently, I have been experiencing these symptoms again. Should I get blood tests done again...
Dr. Jian Yingxiu Reply:
Hello: For questions unrelated to this column, please consult a specialist physician.[Read More] Should You Get Tested Again for Dry Syndrome Symptoms?
Is There a Genetic Link Between Childhood Tics and Essential Tremor?
Is there a correlation between childhood involuntary movement disorders and "primary tremor"? My 6-year-old son fell ill in early March 2023 and was diagnosed with "tic disorder" at the end of March. His father has had "essential tremor" since middle...
Dr. Liu Qingshan Reply:
Dear user, your 6-year-old child is experiencing involuntary movements, which can have various causes. If your husband began experiencing primary tremors during middle school, it may be related to genetics. However, if both father and son have movement disorders, it is likely tha...[Read More] Is There a Genetic Link Between Childhood Tics and Essential Tremor?
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
Understanding 16p 13.11 Deletion: Implications for Rare Genetic Disorders
Abnormality in sheep chromosome 16p, 13.11? At 8 months into the pregnancy, due to certain reasons, an amniocentesis was performed, which revealed a 0.64mb deletion at 16p13.11. Both parents' blood tests showed no issues. I have searched some literature and would like to ask...
Dr. Jian Yingxiu Reply:
Please bring the relevant reports to the genetic counseling clinic for your appointment.[Read More] Understanding 16p 13.11 Deletion: Implications for Rare Genetic Disorders
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
Can My Daughter with Congenital Adrenal Hyperplasia Apply for Disability?
Congenital Adrenal Hyperplasia (CAH) My daughter has congenital adrenal hyperplasia and asthma, and she has been undergoing continuous treatment. She holds a major illness card. I would like to inquire whether she can apply for a disability certificate.
Dr. Jian Yingxiu Reply:
Hello: The new classification of disabilities includes 8 categories, which need to be assessed based on individual physical functions and structures, participation in activities, and environmental factors. After evaluation by a professional team, the needs and duration of eligibi...[Read More] Can My Daughter with Congenital Adrenal Hyperplasia Apply for Disability?
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