Rare Disease Q&A - Page 6

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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 Capillary Malformation and Pulmonary Arteriovenous Malformation Treatment Options

Capillary telangiectasia and pulmonary arteriovenous malformation? Could you please ask Dr. Jian if this condition is treatable? If so, which department should I consult? Thank you.


Dr. Jian Yingxiu Reply:
Pulmonary arteriovenous malformations can be evaluated by a cardiologist or a cardiac surgeon for embolization or surgical intervention.

[Read More] Understanding Capillary Malformation and Pulmonary Arteriovenous Malformation Treatment Options


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 Phytosterolemia: Is It the Same as Sitosterolemia?

Phytosterolemia Is phytosterolemia the same as sitosterolemia? How severe is phytosterolemia? Does it significantly increase the risk of death from cardiovascular diseases?


Dr. Jian Yingxiu Reply:
Hello, Yu Yi: Sitosterolemia, also known as phytosterolemia, is a rare lipid metabolism disorder that is inherited in an autosomal recessive manner. If left untreated, this condition can pose a threat of cardiovascular disease and death at a young age. Currently, the disease can ...

[Read More] Understanding Phytosterolemia: Is It the Same as Sitosterolemia?


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


Jaw Pain While Chewing: Understanding Rare Conditions

Pain in the cheek during chewing? Hello, doctor: I experience pain in my cheek when chewing, especially with the first bite. It feels like the cartilage inside my right cheek gets stuck and, when it finally moves to the correct position, the pain radiates to the area near my ear ...


Dr. Chen Shunsheng Reply:
Differential diagnosis: Trigeminal neuralgia, jaw issues. First, consult a dentist, then a neurologist.

[Read More] Jaw Pain While Chewing: Understanding Rare Conditions


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


Can Haining Medication Be Taken with Lithium? Understanding Rare Disease Treatments

Hanin Pharmaceuticals Hello: Can I take Hainingke with lithium salts together?


Dr. Chen Shunsheng Reply:
The combination of Haloperidol with lithium salts and antidepressants can lead to increased drug concentrations, which may enhance the risk of extrapyramidal side effects. Close monitoring and dosage adjustments are necessary.

[Read More] Can Haining Medication Be Taken with Lithium? Understanding Rare Disease Treatments


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 Contrast Agents: When to Expect Your Test Results

Contrast agent issues Hello, doctor: After the outpatient examination, contrast media needs to be administered. First, may I ask if the report can be available the next day after the contrast media is administered in the morning, or can it also be available in the afternoon clini...


Dr. Lai Xiangrong Reply:
Radiology reports can vary depending on the hospital. In facilities with fewer cases, reports may be available the same day, while in hospitals with a higher volume of cases, reports are typically available the following day. Outpatient physicians usually have the ability to inte...

[Read More] Understanding Contrast Agents: When to Expect Your Test Results


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


Dietary Recommendations for Lupus Patients: What to Eat and Avoid

Diet for Systemic Lupus Erythematosus (SLE) I would like to ask about my sister, who is a patient with systemic lupus erythematosus and is currently in the hospital undergoing tests for edema. She is preparing for a kidney biopsy. I want to know what kind of food would be suitabl...


Dr. Lin Sixie Reply:
Hello, NANA. The dietary principles for patients with lupus erythematosus are low in oil, low in salt, low in sugar, high in fiber, and high in calcium. A high-protein diet is important: patients with lupus who have kidney damage often lose a significant amount of protein in thei...

[Read More] Dietary Recommendations for Lupus Patients: What to Eat and Avoid


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?


Understanding Myasthenia Gravis: A Daughter's Concern for Her Mother's Health

Myasthenia Gravis - Symptoms in Mothers? Hello Dr. Chen, my mother is currently 65 years old. Previously, she had difficulty speaking clearly and consulted many doctors in Kaohsiung and underwent a full health check-up. Some doctors said there was no problem, while others suggest...


Dr. Chen Shunsheng Reply:
My email had some issues with Apple, which is why I'm only able to respond now. The elderly patient has developed new-onset myasthenia gravis, and it is essential to investigate the underlying cause. Additionally, there is indeed a problem with aspiration pneumonia.

[Read More] Understanding Myasthenia Gravis: A Daughter's Concern for Her Mother's Health


Understanding Blue Sclera in Infants: Causes and When to Seek Help

The sclera of the daughter appears bluish? Dear Dr. Jian, Hello. My daughter is currently about 82 days old. Around the age of 2 months, I suddenly noticed that her sclera appears bluish. She was born weighing 3432 grams and measuring 51 centimeters. Her current weight is approx...


Dr. Jian Yingxiu Reply:
It is normal for some babies to have a blue sclera. Please check if there are other family members with blue sclera, and monitor the baby's height and weight, as well as any unusual or excessive crying. Thank you.

[Read More] Understanding Blue Sclera in Infants: Causes and When to Seek Help




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