Quote:
Originally Posted by mrsD
You can search just as well as I can. I have no idea what is in the area you live in. However your heritage where you are suggests to me there must be genetic specialists where you live.
Ask to see what is in the test you are getting. Will it be a full genetic screen? Or only a partial for neuropathy? I think you should get a full test like janieg got for her issues.
Some doctors only test for specific problems and do not give a full workup. Did you check out her new thread yet?
It is sometimes difficult to shift from patient to being your own advocate. With time you'll learn much more if you are less passive with the doctors and do some research on your own.
Also make sure you get your B12 tested to see if that is seriously low. No supplements for several days before the test.
But for now, try not to overdo physical exercise, and eat a varied diet, avoid too much sugar and carbs. Look up each coded mutation and see how it impacts your metabolism. I found alot in just a few minutes. The malabsorption error you have suggests what nutrients you should concentrate on.
I would avoid the lipoic acid supplement as it takes up the multivitamin transporter, and prevents other crucial nutrients from getting to your tissues.
All you can do in the end is support your tissues with non-stressful activity, good food, good rest.
|
Thanks mrsD.
I should be doing an Exome sequencing. Is this the right direction to try and find everything?
Because of the diarrhea i have been having for the lat several months i have started today a hipo-allergenic diet based on brown rice, vegetables and fruits. I also need to treat the blastocystis hominis parasite i have in my stool using antibiotics, hopefully to start next week after more stool tests.
My blood B12 levels are at 525 pmo/L after 2 days i didnt take my supplement.
I currently take a B-Complex, Alpha lipoic acid 600mg(should go to 1200mg in couple days, and a week after go to 1800mg daily) and probiotics.
Until last week when I met my neurologist and he let me know it's likely a small fiber neuropathy, I used to go to the gym 3-4 times a week, I'm running, I play professional table tennis. Now i'm afraid, although I dont think I should be.
I'm also having tiny fasiculations all over the last couple of days. I used to have those in the past, usually one area at a time and then it will go. I guess from the current stress i'm having, this is all over.
I have read that Phosphatidylserine might help with IKBKAP gene mutation symptoms. I'll consult with my doctor.