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 couldn't tell if it was due to my own carelessness or an unknown condition that affected my reflexes).
When walking, my feet did not lift high enough, causing frequent falls.
Initially, I had drooping eyelids and was unable to open my eyes normally.
My mother carried me on a plane from Taitung to Taipei for medical consultation.
During this time, I was fully conscious, and I have vague memories of the EEG and blood tests conducted after arriving at the hospital.
Later, I was given IV fluids and vitamin supplements at the hospital, which helped me regain consciousness and allowed me to be discharged.
However, after returning home, I was different from other children.
I am now thirty-five years old, and two years ago, I visited Kaohsiung Medical University (pediatric neurology) for a series of tests.
The doctor only diagnosed me with "peripheral nerve abnormalities" and mentioned that this condition is quite rare.
I still want to find the cause of my illness and obtain a specific diagnosis for my disability certificate.
Therefore, I am seeking help here.
During my teenage years, due to academic pressure, I frequently experienced episodes (weakness, excessive sleepiness, difficulty speaking, trouble swallowing, and inability to focus my vision, similar to the effects of dilating eye drops, along with difficulty moving my limbs).
I would recover after getting enough sleep.
The so-called recovery refers to my condition after an episode.
Although I can manage daily activities now, I have become accustomed to moving slowly, feeling weak, and getting tired easily.
I still want to improve my condition or at least understand what is happening to me.
Thank you.
Zeng Peiling, 30~39 year old female. Ask Date: 2017/04/27
Dr. Huang Litong reply Rare Disease
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 to follow up with adult internal medicine for further evaluation.
Reply Date: 2017/04/27
More Info
Understanding rare diseases and their treatment can be a daunting task, especially when symptoms are unexplained and the diagnosis remains elusive. Your experience, which began in childhood with episodes of weakness, falls, and other neurological symptoms, highlights the complexity of diagnosing and managing rare neurological conditions.
From what you've described, it seems that you have been diagnosed with peripheral nerve abnormalities, but this diagnosis alone does not provide a complete picture of your condition. Peripheral nerve disorders can arise from various causes, including autoimmune diseases, genetic conditions, infections, or even environmental factors. The symptoms you experienced, such as eyelid drooping, weakness, and difficulty with coordination, suggest a possible neurological disorder that affects the peripheral nervous system.
Given the rarity of your condition, it is crucial to seek a comprehensive evaluation from a specialist in neurology, particularly one who has experience with rare diseases. A thorough assessment may include advanced imaging studies, genetic testing, and possibly nerve conduction studies to evaluate the function of your peripheral nerves. These tests can help identify any underlying conditions that may be contributing to your symptoms.
In addition to seeking a definitive diagnosis, it is essential to address the management of your symptoms. Physical therapy can be beneficial in improving strength and coordination, while occupational therapy may help you adapt to daily activities and enhance your quality of life. Furthermore, if fatigue and weakness are significant issues, a neurologist may consider medications or lifestyle modifications to help manage these symptoms.
It is also important to consider the psychological impact of living with a chronic, unexplained condition. Many patients experience anxiety or depression related to their health challenges. Seeking support from mental health professionals or support groups can provide valuable coping strategies and emotional support.
As you continue your journey to understand your condition better, maintaining open communication with your healthcare providers is vital. Don't hesitate to ask questions, express your concerns, and advocate for yourself. If you feel that your current healthcare team is not providing the answers you seek, consider seeking a second opinion from a different specialist or a medical center that focuses on rare diseases.
In summary, while the path to understanding your condition may be challenging, it is important to remain proactive in seeking answers and managing your symptoms. With the right support and resources, you can work towards improving your quality of life and gaining a clearer understanding of your health.
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