Understanding Rare Disease Treatment: Seeking Answers for Unexplained Symptoms
Treatment of Rare Diseases Hello Doctor: I became ill at the age of six or seven, and prior to that, everything was normal (I was able to move freely). After the onset of my illness, I experienced weakness in walking that was different from others (I often fell down, and later I ...
Dr. Huang Litong Reply:
The diagnosis may involve congenital or acquired peripheral nerve disorders or muscle issues, such as myasthenia gravis. A re-evaluation is necessary, and it may be required to perform nerve or muscle biopsy examinations. Since the patient is already an adult, it is recommended t...[Read More] Understanding Rare Disease Treatment: Seeking Answers for Unexplained Symptoms
Concerns About Rare Conditions: Fetal Finger and Heart Anomalies
Abnormalities of the fingers and heart? Hello Dr. Chen, I am currently 25 weeks pregnant. Around 22 weeks, I underwent a high-level ultrasound and found that the baby's middle fingers are mostly curled into a fist and unable to extend properly (but the other fingers appear n...
Dr. Chen Ming Reply:
This needs to be discussed in person. Please visit my outpatient clinic at Chang Gung Memorial Hospital for an additional appointment. If you are in the northern region, you can also schedule an appointment at the Department of Genetic Medicine at National Taiwan University Hospi...[Read More] Concerns About Rare Conditions: Fetal Finger and Heart Anomalies
Understanding Leg Weakness: Insights into Rare Muscle Disorders
Leg weakness Hello Dr. Chen: About a year ago, I gradually began to feel weakness in my leg muscles, and now even squatting and standing up is very difficult. I feel like I don't have enough strength to go up and down stairs. X-rays revealed herniation of the S5 and L1 inter...
Dr. Chen Shunsheng Reply:
It is a rare disease belonging to the field of neurology. For consultation, it is recommended to visit a nearby neurology training center: Northern Taiwan: National Taiwan University Hospital, Taipei Veterans General Hospital, Chang Gung Memorial Hospital... Central Taiwan: China...[Read More] Understanding Leg Weakness: Insights into Rare Muscle Disorders
Exploring Genetic Testing for Rare Diseases: Beyond Wilson's Disease
Wilson's disease? Genetic testing? Hello Doctor: Previously, I experienced involuntary hand tremors that caused significant distress, so I consulted a neurologist. Blood test results showed low levels of copper and ceruloplasmin, raising suspicion for Wilson's disease. ...
Dr. Lai Xiangrong Reply:
Wilson's disease genetic testing is currently available at the Changhua Christian Hospital Genetic Counseling Center, the Genetic Medicine Department of the National Taiwan University Hospital, and the Molecular Biology Section of the Laboratory Medicine Department at China ...[Read More] Exploring Genetic Testing for Rare Diseases: Beyond Wilson's Disease
Assessing Stem Cell Transplant for Mucopolysaccharidosis Type IV-A in Children
Mucopolysaccharidosis baby Hello, Dr. Hsu. My baby is two and a half years old, female, diagnosed with Mucopolysaccharidosis Type IV A. Currently, she has mild pectus carinatum, rib flaring, and spinal protrusion, but her cognitive abilities are good. I would like to know if she ...
Dr. Xu Jiaqi Reply:
For cases that cannot enter clinical trials for enzyme therapy, hematopoietic stem cell transplantation is another option. There are successful cases of 15-year-old patients with MPS IVA receiving stem cell transplants abroad. Follow-up over ten years post-transplantation has sho...[Read More] Assessing Stem Cell Transplant for Mucopolysaccharidosis Type IV-A in Children
Understanding Non-Invasive Prenatal Testing: The GWNS Method Explained
Non-invasive prenatal testing method based on whole genome trend scoring (GWNS) I am a 31-year-old mother expecting my first baby. I have seen many comments online stating that the majority of babies with Down syndrome are born to mothers under 34 years old. Since this group is n...
Dr. Chen Ming Reply:
The so-called NIPT plus is merely a promotional tactic by foreign companies. Please call 04-7238595 ext. 7244 to receive an official explanation from a genetic counselor. You can also refer to the Facebook fan page of Dr. Ming Chen for information on pre-implantation genetic diag...[Read More] Understanding Non-Invasive Prenatal Testing: The GWNS Method Explained
Understanding the Risk of vCJD from Hepatitis B Immunoglobulin
Regarding human variant Creutzfeldt-Jakob disease (vCJD) Hello Dr. Chen, I have a low concentration of hepatitis B antibodies (close to 10). Last week, due to a potential exposure to hepatitis B (I am not a healthcare worker), I went to the hospital and received a self-paid injec...
Dr. Chen Shunsheng Reply:
In theory, it should be noted that there are no reports of this worldwide; only two patients with the new type of Kuru disease were exposed to the same batch of polio vaccine, but a causal relationship could not be established. As for the hepatitis B vaccine, there are no such re...[Read More] Understanding the Risk of vCJD from Hepatitis B Immunoglobulin
Understanding Chromosome 11 Abnormalities: Insights on Genetic Testing Options
Chromosome 11 abnormality add(11)(q24.2)dn Hello Dr. Chen, my amniotic fluid report indicates 46,XY,add(11)(q24.2)dn, stating that one of the chromosome 11 long arms from 24.2 to the end has been replaced by an unknown chromosomal fragment. The results from the second blood draw ...
Dr. Chen Ming Reply:
I would like to schedule an in-person discussion this Thursday or Friday afternoon.[Read More] Understanding Chromosome 11 Abnormalities: Insights on Genetic Testing Options
Understanding Bisphosphonates and Current Treatments for Osteogenesis Imperfecta
Bisphosphonates and Current Medical Treatments for Osteogenesis Imperfecta (OI) Dear Dr. Lin, Thank you for your previous explanations regarding bisphosphonate medications and the current medical approaches to treating osteogenesis imperfecta (OI). I would like to ask the follow...
Dr. Lin Ruli Reply:
1. It has been over 7 months since the fracture of the right forearm, and it has not fully healed. Is it still possible for the fracture site to heal after stopping the use of Fosamax? Yes, it is possible. 2. Before discontinuing the medication, what kind of assessments should ...[Read More] Understanding Bisphosphonates and Current Treatments for Osteogenesis Imperfecta
Current Advances in Osteogenesis Imperfecta Treatment and Bisphosphonate Use
Bisphosphonates and Current Medical Treatment for Osteogenesis Imperfecta (OI) Dear Dr. Lin, I am an Osteogenesis Imperfecta (OI) patient. I have been taking Fosamax (Alendronate) once a week from 2002 to 2015 for about 13 years. I remember that before starting medication, from ...
Dr. Lin Ruli Reply:
1. Are there better treatment options for Osteogenesis Imperfecta (OI) in Taiwan and abroad? There are ongoing clinical trials for stem cell transplantation. 2. Does taking Fosamax (Alendronate) lead to previously strong bones becoming more prone to fractures? No, it does not. 3....[Read More] Current Advances in Osteogenesis Imperfecta Treatment and Bisphosphonate Use
Understanding Autoimmune Encephalitis: Treatment Options for Rare Cases
Autoimmune Encephalitis Dear Dr. Chen, There is an 8-year-old girl who was admitted to the Kaohsiung Chang Gung Memorial Hospital's intensive care unit on November 2, 2014. Her condition has not improved, and the doctors have diagnosed her with: 1. Suspected autoimmune ence...
Dr. Chen Shunsheng Reply:
It is advisable to discuss the patient's condition with the attending physician, especially since the specific medical information cannot be fully grasped, and relying on online suggestions is not recommended.[Read More] Understanding Autoimmune Encephalitis: Treatment Options for Rare Cases
Understanding Proteus Syndrome: Challenges and Treatment Options
Prothrombotic syndrome Hello, Dr. Chien. My friend's brother has swollen legs that look like elephant legs. He has visited many hospitals and undergone various tests. I heard from my friend that this condition is medically known as Protein-Losing Enteropathy and is related t...
Dr. Jian Yingxiu Reply:
Hello: The current treatment is surgical intervention, but it is important to monitor for the formation of blood clots in the leg and to take precautions to prevent clot formation.[Read More] Understanding Proteus Syndrome: Challenges and Treatment Options
Understanding CMMoL: Concerns About Azacitidine Treatment and Blood Cell Production
Chronic Monocytic Leukemia (CMMoL) Hello Doctor, my mother has been diagnosed with CMMOL and is currently receiving treatment with Azacitidine. After three subcutaneous injections, her follow-up lab results showed that her bone marrow's hematopoietic function is still okay, ...
Dr. Jian Yingxiu Reply:
For treatment, please consult a hematologist. Thank you.[Read More] Understanding CMMoL: Concerns About Azacitidine Treatment and Blood Cell Production
Understanding Elevated Creatine Phosphokinase Levels in Infants: Causes and Concerns
Regarding the issue of elevated creatine phosphokinase levels in infants! Hello Dr. Chen, My younger brother is currently 1 year and 1 month old. On March 12, he had a blood test at Kaohsiung Chang Gung Memorial Hospital, and the results showed elevated total cholesterol levels...
Dr. Chen Shunsheng Reply:
For case management issues, it is advisable to consult the attending physician directly.[Read More] Understanding Elevated Creatine Phosphokinase Levels in Infants: Causes and Concerns
Understanding Genetic Testing for Delayed Motor Development in Children
Questions about blood tests for genetic testing! Hello, Dr. Jian: I have a one-year-old child at home who was recently diagnosed by a neurologist with 0.3 cm of hydrocephalus, which does not affect brain development. During the last brain ultrasound, aside from the 0.3 cm of hy...
Dr. Jian Yingxiu Reply:
Currently, it is known that there are approximately 25,000 genes. Regarding your question about "hydrocephalus," it is not possible to determine which specific gene is related to this condition. Therefore, physicians will need to gather more information. Only by piecing...[Read More] Understanding Genetic Testing for Delayed Motor Development in Children
Understanding Chronic Monocytic Leukemia: A Rare Disease Journey
Chronic Monocytic Leukemia (CML) Hello Dr. Lin, my mother has low platelet counts and the steroid treatment has been ineffective, so she underwent a splenectomy. However, that night she developed septic shock and was admitted to the intensive care unit for emergency treatment. He...
Dr. Lin Sixie Reply:
Your mother's condition is indeed complicated. This disease is not within my area of expertise, so I recommend consulting with specialists in hematology and oncology at other medical centers.[Read More] Understanding Chronic Monocytic Leukemia: A Rare Disease Journey
Should I Be Concerned About Marfan Syndrome Symptoms?
Is there a high suspicion of Marfan syndrome? Recently, I've been experiencing some tightness in my chest and a desire to cough. After researching online, I discovered that this could be related to a genetic condition, and I find that I match many of the characteristics. I w...
Dr. Jian Yingxiu Reply:
It is recommended that you first visit an internal medicine or family medicine specialist to determine the cause of your chest discomfort and assess your heart function. If you have any questions, please consult at one of the genetic counseling centers. Thank you.[Read More] Should I Be Concerned About Marfan Syndrome Symptoms?
Managing Symptoms and Improving Quality of Life in EDMD Patients
Emery-Dreifuss muscular dystrophy (EDMD) is a genetic disorder characterized by muscle weakness and Hello Doctor: I am a patient with Emery-Dreifuss muscular dystrophy (EDMD), diagnosed by Dr. Jian from Chang Gung Memorial Hospital in Keelung. Although I have had less physical st...
Dr. Chen Shunsheng Reply:
The diagnostic criteria for Emery-Dreifuss muscular dystrophy (EDMD) require the identification of at least two affected males and one asymptomatic female or one female with cardiac conduction defects and cardiomyopathy in the family. Diagnosis of EDMD in a family can be establis...[Read More] Managing Symptoms and Improving Quality of Life in EDMD Patients
Understanding the Risks of Splenectomy for Severe Thrombocytopenia
Mother with severe thrombocytopenia? Dear Dr. Lin, I previously inquired about my mother's low platelet count issue. She is currently receiving treatment in the Hematology and Oncology Department at Chang Gung Memorial Hospital and is on steroid therapy. However, the treatm...
Dr. Lin Sixie Reply:
Hello, Akai: ITP, or Immune Thrombocytopenic Purpura, is an autoimmune disease characterized by the immune system producing antibodies that attack platelets, leading to accelerated platelet destruction. When platelet counts fall below 50,000, there is an increased risk of bleedin...[Read More] Understanding the Risks of Splenectomy for Severe Thrombocytopenia
Warts vs. Erythema Multiforme: Do I Need to Stop Antihistamines?
Warts vs. Molluscum contagiosum Doctor, I have urticaria and take antihistamines daily. Recently, I underwent cryotherapy for plantar warts. Should I discontinue the antihistamines?
Dr. Xu Jiaqi Reply:
The use of antihistamines should be determined based on the symptoms of urticaria and does not affect the efficacy of cryotherapy for plantar warts.[Read More] Warts vs. Erythema Multiforme: Do I Need to Stop Antihistamines?