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 Rare Disease
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
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 Rare Disease
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 Rare Disease
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
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 Rare Disease
Hello: For questions unrelated to this column, please consult a specialist physician.[Read More] Should You Get Tested Again for Dry Syndrome 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 Rare Disease
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 Rare Disease
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 Rare Disease
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 Rare Disease
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?
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 Rare Disease
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 Rare Disease
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
Understanding Rare Diseases: Treatment Options for Hearing and Dental Issues
Rare diseases Hello Doctor: I would like to ask about my girlfriend, who has hearing impairment combined with Klippel-Feil syndrome and dental issues: her upper jaw is recessed, and her lower jaw is protruding. Regarding her ear condition, she currently wears hearing aids. What s...
Dr. Jian Yingxiu reply Rare Disease
Hello: Currently, the treatment is symptomatic. It is necessary for her otolaryngologist to evaluate the most appropriate management in conjunction with a dentist or a plastic surgeon. It is recommended that you go and explain your needs to the physician. Thank you.[Read More] Understanding Rare Diseases: Treatment Options for Hearing and Dental Issues
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 Rare Disease
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 Rare Disease
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
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 Rare Disease
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 Rare Disease
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 the Need for Specialized Genetic Testing Kits in Rare Diseases
NTU Next-Generation Genetic Testing Kit Hello Dr. Jian, regarding the previously mentioned issue of "whole exome sequencing and the NTU next-generation neuromuscular testing panel," if whole exome sequencing encompasses the genes tested in the neuromuscular panel, why d...
Dr. Jian Yingxiu reply Rare Disease
Hello: Each test has its own advantages and disadvantages, as well as its own validation results. Therefore, it is still necessary for clinical physicians to assess the individual case and determine the appropriate tests that meet the needs. Thank you.[Read More] Understanding the Need for Specialized Genetic Testing Kits in Rare Diseases
Should I Get a Next-Generation Neuromuscular Disease Panel After Exome Testing?
Whole Exome Sequencing and National Taiwan University Next-Generation Neuromuscular Disease Panel Hello, Dr. Jian. I have been experiencing weakness in my limbs for over a year, and the neurology department has not been able to provide a diagnosis. I am considering genetic testin...
Dr. Jian Yingxiu reply Rare Disease
Hello: From a technical standpoint, the whole exome sequencing used in the National Taiwan University next-generation neuromuscular disease panel employs the same technology. If you have already undergone whole exome sequencing, there is no need to repeat the National Taiwan Univ...[Read More] Should I Get a Next-Generation Neuromuscular Disease Panel After Exome Testing?
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 Rare Disease
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 Primary Thrombocythemia: Rare Disease Insights and Treatment Options
Primary thrombocythemia Hello Doctor, I would like to ask about my condition. I was diagnosed with essential thrombocythemia at the age of 32. After undergoing numerous tests, including a bone marrow biopsy, it was confirmed that I have primary thrombocythemia with a JAK2 mutatio...
Dr. Jian Yingxiu reply Rare Disease
Hello: This disease is not classified as a rare disease by the current government announcement. Please consult your hematologist for alternative medication treatment options. Thank you.[Read More] Understanding Primary Thrombocythemia: Rare Disease Insights and Treatment Options
Understanding Congenital Adrenal Hyperplasia: Risks, Treatment, and Concerns
I would like to ask a few questions about rare diseases, please! Hello, Doctor. I apologize for bothering you. My girlfriend was diagnosed with a condition related to "congenital adrenal hyperplasia" during her kindergarten years, which is associated with enzyme deficie...
Dr. Jian Yingxiu reply Rare Disease
Congenital adrenal hyperplasia has several subtypes. Please consult your girlfriend and her physician to understand the necessity of medication. If genetic counseling is needed, bring your girlfriend and her medical history to a genetic counseling clinic at a medical center to de...[Read More] Understanding Congenital Adrenal Hyperplasia: Risks, Treatment, and Concerns