Navigating Rare Diseases: Which Specialist Should You Consult?

What should I do???

Current medications: Fosamax (Alendronate), Bio-cal (Calcium supplement) for about four to five years.
Medical history: (2002) Surgery on the right ear ossicles, post-operative hearing worsened.
(2003) Right femur fracture surgery.
(2007) Due to poor healing from the previous right femur fracture, re-fracture occurred, and the bone screw broke, requiring surgery.
Dear Doctor: I am a patient with Osteogenesis Imperfecta.

1.
Around the age of fifteen, my skin became sensitive, with symptoms including occasional sensations like light cotton touches or needle pricks.
Scratching leads to temporary localized red line-shaped (or other shapes) swelling, which completely disappears after about twenty to thirty minutes (sometimes the skin itself exhibits similar swelling).
I often itch to the point of waking up (or have difficulty sleeping).
I once visited a clinic, and the doctor diagnosed it as urticaria, but there was no improvement afterward.
I am unsure if this is related to an allergic constitution, but in recent years, I have experienced unexplained coughing.
Previously, aside from coughs associated with colds that lingered after other symptoms resolved, I did not have this issue.
(Before surgery, I had a chest X-ray, and during a follow-up, I asked the doctor to review it; he said it looked normal.) I only learned about the genetics clinic for Osteogenesis Imperfecta a year ago.
I would like to know if I can directly consult the genetics department for the above conditions, or should I see another specialty, such as Allergy and Immunology, Rheumatology, or Dermatology? Which department would be appropriate?
2.
In December 2004, I experienced a severe episode of dizziness lasting over a month, which eventually resolved on its own.
However, around November last year until now, I have had similar but milder symptoms.
One to two years ago, I began experiencing discomfort in my right shoulder, feeling as if the blood vessels or tendons were obstructed (my right eye also feels uncomfortable).
My right hand does not feel as agile as before, and there is a sense of weakness that seems to be gradually worsening.
(Before surgery, I underwent an ECG and echocardiogram, which showed no significant issues.) Can I directly consult the genetics department for these symptoms, or should I see a neurologist, orthopedic specialist, or another department? Thank you!

You Mei De Tian Shi, 30~39 year old female. Ask Date: 2007/08/23

Dr. Lin Xuanpei reply Rare Disease

Hello, the symptoms you described in your first question may indicate not only an allergy but also the possibility of sensory abnormalities.
It would be advisable to consult an experienced dermatologist for an evaluation and necessary tests.
You may also ask the dermatologist if a referral to another relevant subspecialist is needed.
If you plan to visit Mackay Memorial Hospital, you can consult Dr.
Yang-Chih Lin or Dr.
Mei-Yin Tu in the dermatology department.
For the recurrent dizziness issue, it is best to see a neurologist.
The genetic counseling clinic primarily serves patients with rare or genetic diseases, providing comprehensive diagnostic evaluations for specific conditions, analyzing family members' health issues, and conducting genetic testing and treatment for particular diseases, especially congenital metabolic disorders, along with long-term follow-up and care.
We have also been caring for a group of patients with osteogenesis imperfecta, providing them with necessary treatments and referral services.
You should address your inquiries to your attending physician, as I believe that through appropriate communication, you can obtain satisfactory answers.
Lin Hsuan-Pei

Reply Date: 2007/08/23

More Info

Navigating the complexities of rare diseases can be daunting, especially when it comes to finding the right medical resources and specialists. As a patient with osteogenesis imperfecta (OI), your concerns about the various symptoms and complications you are experiencing are valid. Here’s a comprehensive approach to help you find the appropriate medical care.

Understanding Your Condition
Osteogenesis imperfecta is a genetic disorder characterized by fragile bones that break easily, often with little or no apparent cause. It is caused by a defect in the gene that produces collagen, an essential protein for bone strength. Patients with OI may experience a range of symptoms, including frequent fractures, bone deformities, and in some cases, issues with hearing or dental health. Additionally, the sensitivity of your skin and the symptoms you describe, such as itching and hives, may suggest an underlying allergic or autoimmune condition, which can complicate your overall health.

Finding the Right Specialist
1. Genetics Clinic: Since you mentioned that you recently learned about a genetics clinic specializing in osteogenesis imperfecta, this would be a good starting point. Geneticists can provide insights into the hereditary aspects of your condition and may also help in managing associated symptoms. They can guide you on the implications of OI for your overall health and any potential genetic counseling for family planning.

2. Rheumatology/Immunology: Given your symptoms of skin sensitivity and potential allergic reactions, consulting a rheumatologist or immunologist may be beneficial. These specialists can evaluate your immune system and determine if there are underlying autoimmune conditions contributing to your symptoms.

3. Dermatology: If your skin issues persist or worsen, a dermatologist can help diagnose and treat skin conditions such as urticaria (hives) or other allergic reactions. They can also provide advice on managing sensitive skin.

4. Neurology: Your experiences with dizziness and discomfort in your shoulder and arm may warrant a visit to a neurologist. Neurologists specialize in disorders of the nervous system and can evaluate whether your symptoms are related to nerve issues or other neurological conditions.

5. Orthopedics: Since you have a history of fractures and surgeries related to your bones, maintaining a relationship with an orthopedic specialist is crucial. They can monitor your bone health, recommend appropriate treatments, and manage any complications related to OI.

Steps to Take
- Gather Medical Records: Before your appointments, compile all relevant medical records, including previous diagnoses, treatments, and any imaging studies. This information will help new specialists understand your medical history and current health status.

- Prepare Questions: Write down any questions or concerns you have about your symptoms, treatment options, and the implications of your condition. This will help you make the most of your appointments.

- Seek Referrals: If you are unsure where to start, ask your primary care physician for referrals to specialists who have experience with rare diseases and osteogenesis imperfecta.

- Patient Advocacy Groups: Consider reaching out to organizations that focus on osteogenesis imperfecta or rare diseases. They can provide resources, support, and potentially connect you with specialists who have experience in treating your condition.

Conclusion
Navigating the healthcare system as a patient with a rare disease like osteogenesis imperfecta requires persistence and advocacy. By consulting with the right specialists, you can better manage your symptoms and improve your quality of life. Remember, it’s essential to communicate openly with your healthcare providers about all your symptoms, as they may be interconnected. Don’t hesitate to seek second opinions if you feel your concerns are not being addressed adequately. Your health is paramount, and finding the right team of specialists is crucial in managing your condition effectively.

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