Mitochondrial Diseases Support Group

I am new to this site and to be honest i've visited a few mostly rare disiease's as i've had my symptoms for nearly two years now and i've worked my way through the endocrinologist ,rhumatologist ,cardiologist(who i'm still seeing) ,dermatologist(again still seeing ) ,neurologist(who i'm still seeing,and i'm waiting to be seen by the queens square research centre for neurological scince.Numerous doctors ahve done numerous tests for anything from adrenal gland probs to isaac's syndrome and stiff person syndrome but all of my test have come back clear,apart from a raised eck enzyme level in my bloods(600) and most recently my serum lactate levels are 4.2(norm level 1.1-1.8) i'm waiting on results for a blood test done for my pyruvate levels as my neuro dr seems to think ( after telling me i'm up the creek without a paddle ) that these strongly indicate either a problem with the mitochondria or a nerve channel disorder hence the referal to Queens.my symptoms are droopy left eye slurred speech both periodicaly ,a stoma due to an op i had three years ago where initially it was thought it had severe diverticulitis and two absess's burst even though i didin't display any symptoms until this happenened ,vitiligo,severe chronic urtacaria ,muscle cramps and spasms even during rest all over my body arms ,legs,trunk,neck hands feet etc.tingling sensations in hands and feet.and extremem fatigue and a bit of depression thrown in .I'm sure there are many of you who endure the same and worse but the hardest thing is not one dr has been able to treat any of the symptoms as they are not sure of the cause. At the moment i'm being as positivew as i can as i know that the centre at Queens is world renown and a t the very least should be able to improve my symptoms .I'm a 38yr male called Darren and i'n just hanging onto my job on a part time basis even though all of the ground has been set for mr to retire early through ill health once i get a diagnosis .Is there anyone else who s eithe rin this situation or has been through similar as its now getting difficult to cope and any pointers or just someone to talk to would be greatly appreciated .
Posted on 08/23/08, 03:08 pm