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
Supporting a Baby with Hypotonia: Music Therapy and Developmental Strategies
Hypotonicity, music therapy The baby girl is currently over 3 months old, weighing 4700g (birth weight 2950g), measuring 61cm in height (birth length 53cm), and has a head circumference of 38.4cm (birth head circumference 33cm). She was induced at 41 weeks and delivered vaginally...
Dr. Lin Guanglin Reply:
1. The tension is relatively low, and continuous rehabilitation is necessary while searching for possible underlying causes, which may require some time for observation and examination. 2. Based on your description, the child seems to have weakness on the left side of the body,...[Read More] Supporting a Baby with Hypotonia: Music Therapy and Developmental Strategies
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
Understanding Chromosomal Abnormalities 13 and 14: Implications for Your Child's Health
Abnormalities of chromosomes 13 and 14? Hello Dr. Chen: My amniocentesis report shows a result of 45.xx.der(13;14)(q10;q10), indicating that one of the chromosomes from chromosome 14 has attached to chromosome 13. I would like to ask if this means my child is healthy? Do you reco...
Dr. Chen Ming Reply:
In principle, it is balanced and there are no major issues. However, it is advisable for both partners to undergo chromosomal testing and consider amniocentesis with chromosomal microarray analysis. Please come to the clinic for further discussion.[Read More] Understanding Chromosomal Abnormalities 13 and 14: Implications for Your Child's Health
Understanding Severe Oligohydramnios in Pregnancy: Risks and Management
Severe oligohydramnios? Hello, doctor. I would like to inquire about my wife, who is currently 28 weeks pregnant (the baby is measuring three weeks small). An ultrasound examination has shown severe oligohydramnios. She is currently hospitalized for observation, but there has bee...
Dr. Chen Ming Reply:
You must come to the hospital for an examination, as all appointments are fully booked. You can come for a walk-in consultation.[Read More] Understanding Severe Oligohydramnios in Pregnancy: Risks and Management
Understanding the Implications of 7q34-36.3 Chromosome Deletion in Pregnancy
Deletion of the tail of chromosome 7? Hello, doctor. I am currently 21 weeks pregnant. I have undergone two NIPT blood tests, which indicated a 20mb deletion at chromosome 7q34-36.3. I am now waiting for the results of the aCGH microarray analysis. I would like to ask: (1) What p...
Dr. Chen Ming Reply:
The peace of mind comes from the fact that this is a highly complex and difficult test. We must wait for the results of the ACGH chip before we can explain everything in person. God bless![Read More] Understanding the Implications of 7q34-36.3 Chromosome Deletion in Pregnancy
Understanding Tourette Syndrome: Treatment Options and Symptom Management
Tourette syndrome Hello doctor, I would like to ask you about Tourette syndrome. Is there a medication that can cure this condition, or can it only alleviate the tic symptoms? Thank you for your response, doctor.
Dr. Chen Shunsheng Reply:
Symptoms can be managed with medication, and in some patients, symptoms may diminish as they grow older.[Read More] Understanding Tourette Syndrome: Treatment Options and Symptom Management
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
Concerns About Brown Discharge and Pain at 15 Weeks Pregnant
At 15 weeks of pregnancy, there is a sudden appearance of a small amount of abnormal brown discharge? Hello Dr. Chen: I would like to ask, today I just reached 15 weeks of pregnancy, and I started feeling sharp pains in my abdomen today. Recently, due to a cold and cough, I have ...
Dr. Chen Ming Reply:
Sure![Read More] Concerns About Brown Discharge and Pain at 15 Weeks Pregnant
Managing Oligohydramnios at 19 Weeks: Insights and Treatment Options
Oligohydramnios at 19 weeks? Hello Dr. Chen, my wife is currently about 19 weeks pregnant. She has experienced bleeding since around 9 weeks, and examinations revealed an early placental abruption. However, since it was not a complete detachment, we followed the doctor's adv...
Dr. Chen Ming Reply:
Dear Ping An, If you have already found a physician who can assist you with hydration, it is evident that you have found an excellent colleague. There are very few physicians in Taiwan who can provide hydration therapy. Although I perform many procedures, it may not necessarily...[Read More] Managing Oligohydramnios at 19 Weeks: Insights and Treatment Options
Understanding Tongue Weakness: Seeking Answers for Rare Conditions
Tongue weakness I feel like my tongue has lost its strength, and it has been this way for over five years. I used to think that as long as it didn't affect my physiological functions, it was okay even if speaking was sometimes difficult. However, the reality is that I can ba...
Dr. Chen Shunsheng Reply:
There are three possible conditions: 1. Peripheral or distal lesions: involving the tongue muscles, hypoglossal nerve, or hypoglossal nerve neuropathy. These occurrences are rare, and even less so when they occur in isolation. In addition to weakness, the tongue may exhibit signi...[Read More] Understanding Tongue Weakness: Seeking Answers for Rare Conditions
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
Can Botox Treat Nystagmus? Hospitals in Taiwan Offering Treatment
Nystagmus Can botulinum toxin be used to treat nystagmus? Which hospitals in Taiwan offer this treatment?
Dr. Chen Shunsheng Reply:
Congenital nystagmus may be treated with botulinum toxin injections to alleviate the eye movement. The efficacy of botulinum toxin for acquired nystagmus is still under investigation. Injections should be administered by an ophthalmologist, so please consult with the ophthalmolog...[Read More] Can Botox Treat Nystagmus? Hospitals in Taiwan Offering Treatment
Should I See a Gynecologist or Urologist for Postpartum Issues?
Should I see a gynecologist? Postpartum breastfeeding can be exhausting and may lead to a decrease in immunity, resulting in persistent vaginal discharge, itching, and frequent urination. Later, as the child grew older, she also reported itching in the genital area. There was an ...
Dr. Chen Ming Reply:
If you're worried, you can still seek medical attention. God bless you.[Read More] Should I See a Gynecologist or Urologist for Postpartum Issues?
Understanding Chromosome 9 Inversions: Genetic Testing and Implications
Chromosome 9 inversion - continuation Dr. Chen: Thank you for your very helpful response. I would like to ask if you recommend that my parents undergo blood tests to determine if there is a hereditary factor or a mutation in the baby? Additionally, do individuals with such chromo...
Dr. Chen Ming Reply:
Since the issue is not significant, please closely discuss it with your original obstetrician.[Read More] Understanding Chromosome 9 Inversions: Genetic Testing and Implications
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 Chromosome 9 Inversion: Implications for Your Child's Health
Inversion of chromosome 9? Hello Dr. Chen: My child's amniocentesis report came back with the result: 46,XY,inv(9)(p12q13). What should we be aware of regarding the child's health? Are there any potential complications? Do the parents need to undergo blood tests?
Dr. Chen Ming Reply:
Generally, this is considered a "normal variant" and does not require excessive concern. May God bless you![Read More] Understanding Chromosome 9 Inversion: Implications for Your Child's Health