Hi,
Thank you for posting your query.
I can understand your frustration because of suffering for close to 15 years and without the lack of proper diagnosis and treatment plan.
The symptoms are suggestive of peripheral neuropathy (a disease of nerves of hands and feet). Mostly the sensory nerves are affected leading to pain, tingling, burning, numbness, etc. However, the recent symptoms suggest involvement of motor nerves leading to weakness and buckling at knees.
This can be confirmed by doing nerve conduction studies (NCV).
A few recent symptoms also suggest involvement of spine and we need to do MRI spine to exclude an associated spine disease.
The second step would be to determine the cause of neuropathy. This would require extensive work up including- collagen vascular profile (ANA, Anti ds DNA), porphyria work up, serum protein electrophoresis, etc. These are all blood tests. If we do not get an answer from blood tests, then, a nerve biopsy would be required to exclude vasculitis.
For symptom relief, you could take pregabalin or gabapentin capsules. Specific medical treatment can be started after a confirmed diagnosis is made.
I hope it helps. Please get back if you have any follow-up queries.
Best wishes,
Dr. Sudhir Kumar MD (Medicine), DM (Neurology)
Senior Consultant Neurologist
Patient replied :
Thank you for your reply. It is much appreciated.
I just found out yesterday that my half-brother ( I am not in contact with him) was diagnosed with multiple sclerosis about 10 years ago (when he was my age). Also, my sister had aplastic anemia 15 years ( I was her bone marrow donor. She is fine now), my nephew (my other sister's son) has morphea, my mother's aunts both had lupus, and I have two uncles on my mother's side with gout. I don't know if any of these things are relevant but I would appreciate your input into the connection (if any) between any of these family diseases and my symptoms.
I really do appreciate your input. I am a generally happy, energetic and optimistic person but this constant 'vibrating' all over my body, fatigue and general weakness is beginning to affect my everyday life!
Thank you again.
Sincerely,
Stephanie
Thank you for getting back.
A family history of autoimmune diseases may mean that you have a higher chance of getting one. So, the autoimmune (collagen vascular work up) that I suggested in the previous mail would be very important.
Best wishes,
Dr. Sudhir Kumar MD (Medicine), DM (Neurology)
Senior Consultant Neurologist,