Guest guest Posted August 17, 2004 Report Share Posted August 17, 2004 My Grandma never was diagnosed with anything, but assuming the path of inheritance that we are looking at, it would have ultimately come down from her... its her sisters that have grandchildren with major problems as well, so we suspect thats the part of the family that it was inherited from. She passed away in the mid 90's, in a very remote northern town, so im not surprised nobody even thought to look at mito. She was just an elderly lady having strokes... we were lucky, as she was very healthy until her first stroke. I will have to ask about the possibility of my having a stroke at some point, as it sounds like that may have been the problem. I have definately noticed a link between lack of sleep and 'crashes' (im experiencing one right now, has been quite sick, and ive been up most nights, and lately its all I can do to stay awake all day never mind standing without passing out! ack!). And while my labour was uncomplicated, it was long... Luckily I have a WONDERFUL OB who is going to do everything he can to ensure i dont have such a bad reaction this time around... (now we just hope my body cooperates! lol!) > > > > > HI Keely, > > > > > > > > > > I don't believe I've introduced myself. I'm and > > I'm > > > > 20 yrs old. > > > > > I became suddenly ill at the age of 15 and have gotten > > > > progressively worse in > > > > > symptom presentation. I have a severe carnitine deficiency > > > caused > > > > by a > > > > > carnitine transporter defect in my renal tubes. I also am > > being > > > > evaluated for a > > > > > mitochondrial depletion syndrome as I had fewer mitochondria > > in > > > > my fresh muscle > > > > > biopsy than anyone else ever biopsied at CCF. My primary > > > symptoms > > > > are severe > > > > > muscle pain, weakness, fatigue (very sleepy all the time > > > > regardless of how > > > > > much sleep I have had), intestinal dysmotility and pseudo > > > > obstruction, tension > > > > > headaches, dysautonomia, severe osteoporosis, POTS, > > > hypermobility > > > > of joints > > > > > and reflexes, and frequent UTI's. > > > > > Tell me about yourself. What are your symptoms? Do you > > have > > > a > > > > definitive > > > > > Dx yet? > > > > > > > > > > Quote Link to comment Share on other sites More sharing options...
Recommended Posts
Join the conversation
You are posting as a guest. If you have an account, sign in now to post with your account.
Note: Your post will require moderator approval before it will be visible.