Rare Disease Q&A - Page 7

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Chronic Granulomatous Disease: Antibiotic Resistance and Treatment Options

Chronic granulomatous disease Hello, I would like to inquire again about the current treatment methods for chronic granulomatous disease. The treatment involves taking prophylactic antibiotics and administering interferon. I would like to know if long-term use of antibiotics coul...


Dr. Jian Yingxiu Reply:
It is recommended to maintain prophylactic antibiotics and administer interferon.

[Read More] Chronic Granulomatous Disease: Antibiotic Resistance and Treatment Options


Managing Low Platelet Counts: A Family's Struggle with Rare Disease

Thrombocytopenia? Hello Doctor: My mother has been experiencing low platelet counts and visited a nearby hospital, where she was seen by an oncologist. Initially, her blood tests showed a platelet count of 33,000 and a white blood cell count of 8,000 to 9,000, while other routine...


Dr. Jian Yingxiu Reply:
Your mother's condition is quite complex, but it is still important to discuss with the hematologist whether to switch to other stronger medications for treating thrombocytopenia or to consider direct transfusions to manage the need for surgery.

[Read More] Managing Low Platelet Counts: A Family's Struggle with Rare Disease


Understanding Low Platelet Counts: Risks and Recovery Insights

Thrombocytopenia I would like to ask the doctor, does receiving a blood transfusion during surgery increase the risk of the procedure? Is that the case? Also, given my mother's condition, is it possible for her white blood cells to recover to their normal state? My mother fe...


Dr. Jian Yingxiu Reply:
You should discuss with your physician which issue needs to be addressed more urgently. If the low white blood cell count is due to the pharmacological effects of medication, it should recover after discontinuing the drug for a period of time.

[Read More] Understanding Low Platelet Counts: Risks and Recovery Insights


Understanding Low Platelet Count: Treatment Options and New Medications

Thrombocytopenia Hello, Doctor. I previously inquired about my mother, who was hospitalized due to low white blood cell counts caused by immunosuppressive therapy. The doctor mentioned that her white blood cell count has stabilized, and her recent blood test showed a count of 200...


Dr. Lin Sixie Reply:
Typically controlled with steroids, if the effect is unsatisfactory, consider Nplate (romiplostim) subcutaneous injection. Please discuss with your physician. Wishing you a speedy recovery.

[Read More] Understanding Low Platelet Count: Treatment Options and New Medications


Managing Low Platelets and White Blood Cell Count: A Patient's Journey

Treatment for thrombocytopenia and leukopenia? Hello, doctor. I would like to ask you about my mother. She previously had a low platelet count of around 20,000 and was treated at Changhua Christian Hospital. The doctor prescribed steroids (Dexamethasone) and an over-the-counter g...


Dr. Lin Sixie Reply:
Based on your description, your mother may have idiopathic thrombocytopenic purpura. However, it is important to rule out the possibility of infection or tumors. Bone marrow examination is normal, which excludes the possibility of aplastic anemia. The low white blood cell count m...

[Read More] Managing Low Platelets and White Blood Cell Count: A Patient's Journey


Managing Pituitary Tumors: Medication Options and Side Effects

Pituitary tumor If surgery is not an option for a brainstem tumor, it is important to discuss alternative treatment options with a healthcare provider. Medications such as corticosteroids may be prescribed to help reduce swelling and alleviate symptoms. However, if your sister is...


Dr. Liu Qingshan Reply:
Hello: I understand that a pituitary tumor requires long-term monitoring, and it is important to follow the doctor's recommendations for tracking various pituitary hormones. Additionally, regular medication should be taken, and if there are any side effects from the medicati...

[Read More] Managing Pituitary Tumors: Medication Options and Side Effects


Can I Have a Healthy Baby After Taking Conquer Tab 1200mg During Pregnancy?

Is it safe to take Conquer Tab 1200mg while pregnant? Will the child be born healthy? Hello Doctor, I am Wu Meifeng's mother. I recently learned that I successfully conceived in February and am now about one month pregnant. However, I was unaware of my pregnancy while taking...


Dr. Chen Ming Reply:
The medication Mebendazole is indeed not very safe from a pharmacological standpoint. Please consult a physician specializing in genetic counseling in the obstetrics and gynecology department at a nearby medical center. Personally, I also believe it is not very safe. If you wish ...

[Read More] Can I Have a Healthy Baby After Taking Conquer Tab 1200mg During Pregnancy?


Seeking Medical Guidance for Short Stature and Rare Disorders

Adults with a stature resembling that of children should consult an endocrinologist? I am currently 44 years old and 131 cm tall. I would like to apply for a disability certificate. When I visited the endocrinology department at Taoyuan Hospital, I encountered Dr. Dong, who quest...


Dr. Jian Yingxiu Reply:
Hello: For height-related issues, please consult the "Pediatric Endocrinology Department" at major medical centers to investigate the underlying causes. Regarding the disability handbook, under the new regulations, in addition to the diagnosis made by a specialist, the ...

[Read More] Seeking Medical Guidance for Short Stature and Rare Disorders


Understanding Chronic Granulomatous Disease: Treatment, Diet, and Resources

Chronic granulomatous disease 1. For patients with chronic granulomatous disease, is the requirement for injections three times a week only temporary or is it lifelong? 2. Is bone marrow transplantation or umbilical cord blood the only way to achieve a cure? Are there any succe...


Dr. Jian Yingxiu Reply:
Hello: For patients with chronic granulomatous disease, it is currently recommended to continue interferon therapy unless the cellular issues are corrected through stem cell transplantation, at which point it may be possible to discontinue treatment. In Taiwan, there are very few...

[Read More] Understanding Chronic Granulomatous Disease: Treatment, Diet, and Resources


Navigating Rare Disease Care: Challenges with Acute Polyneuropathy Treatment

Thank you for your response? Hello, I am a patient with acute intermittent porphyria. You responded by saying (discuss with the attending physician, he will pay attention to the usage). I was diagnosed with this condition at Linkou Chang Gung Memorial Hospital, but when I went to...


Dr. Chen Shunsheng Reply:
Rare diseases require a highly specialized team. For your issue, I recommend Dr. Chih-Cheng Huang from the Department of Neurology, specializing in neuromuscular disorders. He has trained at the Mayo Clinic in the United States, is very nice, and most importantly, I have informed...

[Read More] Navigating Rare Disease Care: Challenges with Acute Polyneuropathy Treatment


Understanding Calf Muscle Weakness: Insights on Rare Conditions

Weakness in the calf muscles? Hello Dr. Chen, I apologize for the interruption. I would like to ask for your advice. I have been experiencing gradual weakness in my calf muscles (especially the posterior side) for over two years now. Climbing stairs has become increasingly diffi...


Dr. Chen Shunsheng Reply:
It is possible that there is lumbar nerve root pathology, peripheral nerve issues, or myopathy. Please consult a neurologist.

[Read More] Understanding Calf Muscle Weakness: Insights on Rare Conditions


Impact of Harmful Medications on Acute Polyneuropathy Patients

Acute polyneuropathy porphyria Hello, I am a patient with acute polyneuropathy. I would like to know if the use of medications that could harm the health of acute polyneuropathy patients could lead to a deterioration in their health or a rapid decline in their condition?


Dr. Chen Shunsheng Reply:
Each medication has its own effects and side effects. Discussing with your primary physician will ensure careful consideration of its use.

[Read More] Impact of Harmful Medications on Acute Polyneuropathy Patients


Understanding Leg Pain: Causes and Solutions for Discomfort

The area in the middle of my leg? I experience pain when I straighten my leg, and it has been hurting for several days. I'm not sure if it's muscle pain. What should I do to resolve this?


Dr. Chen Shunsheng Reply:
The description is not detailed enough, but it can be inferred to fall within the scope of neurology or rehabilitation medicine.

[Read More] Understanding Leg Pain: Causes and Solutions for Discomfort


Understanding Short Anagen Syndrome: A Mother's Quest for Answers

My daughter? Hello Doctor: I don't understand, so I would like to ask you. My daughter has been diagnosed with Short Anagen Syndrome after some examinations due to her hair appearance. Previously, there were six other cases with the same symptoms, but they were all Western i...


Dr. Jian Yingxiu Reply:
Hello: 1. This diagnosis currently relies on clinical assessment; a physician will attribute the condition to this disease only if they believe there are no other explanations for the phenomenon. Conversely, this disease typically only affects hair growth and can cause psychologi...

[Read More] Understanding Short Anagen Syndrome: A Mother's Quest for Answers


Can Genetic Testing Confirm Citrullinemia Type 1 in My Child?

Can the mutation point for argininemia be identified? Can I confirm if my child has a chromosomal abnormality through genetic testing after being diagnosed with Citrullinemia Type I, or are there other methods for diagnosis? Thank you!


Dr. Jian Yingxiu Reply:
Diagnosis of Citrullinemia Type I can be confirmed through genetic testing or enzyme analysis. These tests are not covered by health insurance. Please consult your physician for further testing options.

[Read More] Can Genetic Testing Confirm Citrullinemia Type 1 in My Child?


Understanding Memory Loss: Is It Linked to Brain Cysts?

Cerebral cyst My husband sometimes experiences amnesia for about ten minutes, forgetting everything that happened just ten minutes prior; he repeatedly asks what he just did. Even if you answer him, he continues to ask the same question for several minutes before he slowly starts...


Dr. Chen Shunsheng Reply:
There is indeed a problem; please seek consultation with a neurologist as soon as possible for evaluation.

[Read More] Understanding Memory Loss: Is It Linked to Brain Cysts?


Understanding Osteogenesis Imperfecta: Diagnosis and Treatment Options

Osteogenesis imperfecta Dear Dr. Jian, I would like to inform you that my twins were born on March 20. Upon birth, they were found to have a tendency to fracture easily. An X-ray examination revealed multiple fractures in both babies, and they exhibit the same symptoms. They hav...


Dr. Jian Yingxiu Reply:
If the patient is a "glass child," bisphosphonate medications used for osteoporosis may be considered to increase bone density and reduce the frequency of fractures. However, there is a potential risk of hypocalcemia as a complication, so the timing of use should be tho...

[Read More] Understanding Osteogenesis Imperfecta: Diagnosis and Treatment Options


Persistent Itchy Rash in a 20-Year-Old: Possible Rare Conditions and Treatments

Could you please provide more details regarding the issue of persistent itchy rashes? The 20-year-old female has been experiencing itchy red rashes all over her torso (front and back) since the end of January this year. She has consulted dermatology, traditional Chinese medicine,...


Dr. Lin Sixie Reply:
Skin symptoms must be evaluated in person. There are many possible underlying causes. Based on your description, it is difficult to determine the morphology and characteristics of the rash. However, since the symptoms have persisted for over 6 weeks, they are considered chronic, ...

[Read More] Persistent Itchy Rash in a 20-Year-Old: Possible Rare Conditions and Treatments


Are Rare Diseases Always Genetic? Understanding Risks and Testing Options

Are rare diseases genetic disorders? Dear Doctor, are all rare diseases caused by genetic factors? I am currently planning to have children and would like to inquire about what tests can be done. I have read many websites and feel quite anxious.


Dr. Jian Yingxiu Reply:
Rare diseases are not necessarily caused by genetic factors. It is recommended that you and your partner visit a nearby medical center for genetic counseling, where a physician can assess your family health history and provide a list of tests that you can undergo. Thank you.

[Read More] Are Rare Diseases Always Genetic? Understanding Risks and Testing Options


Understanding Mad Cow Disease: Risks and Safety Concerns in Taiwan

Could you please provide more details or specify your question regarding mad cow disease? Hello, Director Chen: In the past year, I have heard about the issue of mad cow disease, so I have stopped eating beef. However, my family still consumes it. One time during a meal, there wa...


Dr. Chen Shunsheng Reply:
Hello, Basically, the risk of contracting variant Creutzfeldt-Jakob disease (vCJD) decreases if one does not consume beef. However, if beef is to be consumed, it is advisable to avoid beef products imported from countries with a high risk of vCJD, such as the United Kingdom and...

[Read More] Understanding Mad Cow Disease: Risks and Safety Concerns in Taiwan




Rare Disease FAQ

Brittle Bone Disease Chromosomes
Congenital Metabolic Disorders Disease Name
Epilepsy G6Pd Deficiency
Hair Height
Ichthyosis Kawasaki Disease
Muscular Diseases Neurological Diseases
Neurology Newborn Screening
Osteogenesis Imperfecta Other
Rare Diseases Rare Disease Treatment
Tourette Syndrome Tumor
Whole Exome Sequencing Wilson'S Disease