Guest guest Posted August 16, 2004 Report Share Posted August 16, 2004 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...
Guest guest Posted August 16, 2004 Report Share Posted August 16, 2004 Hi ! its nice to meet someone my age! I started having heart palpatations at 13, but they were basically ignored by my doc. in fact nobody took me seriously at all until I was 18... by that time I had severe scoliosis, recurrent hip bursitis (to the point i needed crutches), asthma, severe allergies (latex will kill me quite quickly - this came out of nowhere at 18), chronic broncitis, my kidneys bled about 50% of the time (as in bled enough that I could see it, no microscopic stuff here!), however culture after culture came back negative, and antibiotics never resolved it. (all of this happened while i was away from home at college... nice) I dealt with it all relatively well, but in my second year of college, I had a severe bout with pericarditis that landed me in hospital for a week... at this point i made plans to move home (I was halfway across the country with no family, living in a dorm). Since then I have developed dysautonomia (Also in the form of POTS), peripheral neuropathy, my kidneys have their 'attacks' about twice a year, and last christmas I had my first culture confirmed kidney infection that took a good month and IV antibiotics to kick. I have had recurring pericarditis, however since moving to a dryer climate, my asthma, bronchitis, and bursitis have largely resolved. I have an 'infarct' on my MRI (nobody can tell me what that means), I have also developed a pinhole in my retina, that will eventually need surgical treatment, however right now its small enough not to be an issue... Im a grab bag of medical literature... lol! Amazingly, in the middle of all that, I managed to meet a guy that didnt get scared away by the fact that our first date ended in an ambulance ride, and a night in the ER (thought id get all my health issues out on the table right at the start, see if he could handle them... lol!) we got married, and have a 19 month old baby boy, who is absolutely amazing. Until January, I was told over and over my problems were autoimmune, however in January my son got sick, and after all has been said and done, were on our way in Sept to see the mito specialist, as he has low carnatine, high lactic acid, abnormal urine organic acids, and a whacky MRI, along with some rather random symptoms... I havent yet been tested for anything associated with this, however we are assuming its all the same root cause. With all that, we also have gone through our family history, and I have a cousin who died in the 80's of what now sounds like classic Leighs syndrome (at the time they diagnosed atypical Reyes syndrome for lack of a better diagnosis) I also have 3 other cousins whos children are very sick, with random symptoms and no diagnosis, so i suspect this has opened a door up that will benefit our entire family... You mentioned UTI's, are they confirmed by cultures all the time, or do they go by symptoms? I will go to the ER, and teh initial urine dip will show large amounts of blood, leukocytes, protein, nitrites, and bacteria, however the cultured NEVER grow anything... its so frustrating... and SO painful! I had a cystoscopy (ugh) and it was negative, as well as xrays and u/s of the kidneys, and my creatnine is always low, so theres no signs of kidney damage. however I do have periodic protien in my urine. NONE of that has ever been explained... Im hoping with time it will be with a mito diagnosis... I havent had a muscle biopsy, and my son hasnt either, however i suspect its in the future for us both... wow... sorry for babbling, there never is a short way to tell that story.... Keely > 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...
Guest guest Posted August 16, 2004 Report Share Posted August 16, 2004 Hope you don't mind me jumping in here. Wnated to welcome you to the group and also tell you an infarct is another fancy word for a stroke. If you need more info, let me know where your infarct/stroke was seen and I will try to help you. You probably had a stroke that seemed to cause neurological symptoms, possibly durin or following a virus, at some point. Did anyone tell you that you had a stroke or is this news to you? Let me know if you need anything. By the way, I know what it is like to be struggling with these issues at your age. I really went downhill at the age of 20. Darla: mommy to Asenath, Zipporrah, and the other 7 kiddos > > 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...
Guest guest Posted August 16, 2004 Report Share Posted August 16, 2004 My 'infarct' (lol sounds so pretentious) is in the right frontal lobe of my brain, and is 8mm in diameter... basically the size of a small pea... I have never been told I have had a stroke, however there have been a few times in my life that I may well have had a mild one, I have had periods of numbness in my feet, and one time last year where my whole left arm went numb (however a CT scan at the time was negative). they kept saying it must have been a head injury, however I have only ever had one concussion in my life, and that happened AFTER the MRI was done (ironic... lol!). They estimated my grandmother had a total of over 100 (mini)strokes in the last 20 years of her life... she went from being completley healthy to completely bedridden over 10 years... it was so scary, but it makes sense in hindsite.. they couldnt figure out why she kept on having stroke after stroke... After I had my son, my neuro problems were extreme, so that may well have been the trigger... Keely > > > 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...
Guest guest Posted August 17, 2004 Report Share Posted August 17, 2004 My UTI's are confirmed by cultures. Infact it's just the opposite for me that my UA's are always neg. and then my cultures grow these weird things. When I was in the hospital my urine was thrown out twice after the UA because it was clear even though a culture had been ordered. Frustrating considering I was bleeding and symptomatic and nothing ever shows up in the UA's. You are so fortunate to have found a caring and supportive husband inspite of your illness. Congrats on the precious little boy. I'm really sorry that he is ill but I hope that you will be able to find some answers for him and yourself as well. Where do you live? I live in western KY, but would love to move closer to the eastern coast. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 17, 2004 Report Share Posted August 17, 2004 The right side of your brain controls the left side of the body so the numb arm could have been the time it happened. But we have had tons of experioence, like your grandmother, with strokes in our home. They can be as mild as a droop of the mouth or as large as causing death or major impairment. Asenath has had over 11 strokes that we can date and many that have been tiny TIA's. Zipporrah has had two moderate strokes and several tiny ones. I myself have had many episodes in the past which were most likely stroke activity. Now my oldest son (16) is having stroke symptoms with major migraines and we are thinking it is related to the Mito disorder. I can't say exactly what the front temporal lobe controls (that is one web page I would LOVE to find!-one that tells the location of all control centers in the brain for what issue) but know that many times strokes can be so minor that many do not know it has occured. I would suggest you talk to your doc further about the issue. My worse periods are always following giving birth and dealing with the lack of sleep, so this isn't surprising that your problems have gotten worse after the stress of a pregnancy, birth, and caring for a child. Try to get as much rest as possible and that will help some. I am also wondering if your grandma has/had Mito. Strokes/regressions are SOOOOOO common with Mito. Was she diagnosed with anything? Darla > > > > 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...
Guest guest Posted August 17, 2004 Report Share Posted August 17, 2004 Im actually up in Canada, I live in Manitoba (just above North Dakota)... thats bizarre about the UA's!! nothing normal huh?? Yea Im so thankful for my husband and my son... i cant imagine doing this alone... (although I wish it was just me and not our son as well..) > My UTI's are confirmed by cultures. Infact it's just the opposite for me > that my UA's are always neg. and then my cultures grow these weird things. When > I was in the hospital my urine was thrown out twice after the UA because it > was clear even though a culture had been ordered. Frustrating considering I > was bleeding and symptomatic and nothing ever shows up in the UA's. > > You are so fortunate to have found a caring and supportive husband inspite > of your illness. Congrats on the precious little boy. I'm really sorry that he > is ill but I hope that you will be able to find some answers for him and > yourself as well. > > Where do you live? I live in western KY, but would love to move closer to > the eastern coast. > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 17, 2004 Report Share Posted August 17, 2004 Just thought I would let you know that is the pregnant one. I had a baby just 9 1/2 months ago and am trying to " abstain " from getting pregnant in the future due to the medical issues the last two have had. Thanks for the suggestions though. Darla > I wanted to mention after you have this baby, if your blood pressure > issues are still a major problem, it may be worth it to ask about > metoprolol... > Im gathering from your posts that its not only low bp, but high as > well that you suffer with? and thats why their hesitant to give you > anything for either... as it might make the other one worse? > > The reason i suggest asking about metoprolol is its a strange one. > its a beta blocker, and is traditionally used for high blood > pressure, and heart rhythm issues, as well as after a heart attack. > for me, when the first med i was on was working, but not enough to > control my symptoms they started me on metoprolol. the specialist i > saw told me that in people with high bp it lowered it, and in people > with low bp it seemed to raise it... their not sure why, but in me > it worked!! > For me i find it just 'smoothes out the edges' of how im feeling... > regulates my heart rate (even when my bp is fine, i have a very fast > heart normally), and keeps my bp in check... > might be worth asking about at least! > I hear about SO many people that have trouble getting anyone to take > this problem seriously, but it really does cause a major disability > in a lot of people... and just like a painful disorder, this one > deserves treatment if its severe enough to interfere with normal > life. > Keely Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 17, 2004 Report Share Posted August 17, 2004 LOL! oops!! sorry im still trying to keep track of every one... ill get it figured out sooner or later! > > I wanted to mention after you have this baby, if your blood > pressure > > issues are still a major problem, it may be worth it to ask about > > metoprolol... > > Im gathering from your posts that its not only low bp, but high as > > well that you suffer with? and thats why their hesitant to give you > > anything for either... as it might make the other one worse? > > > > The reason i suggest asking about metoprolol is its a strange one. > > its a beta blocker, and is traditionally used for high blood > > pressure, and heart rhythm issues, as well as after a heart > attack. > > for me, when the first med i was on was working, but not enough to > > control my symptoms they started me on metoprolol. the specialist > i > > saw told me that in people with high bp it lowered it, and in > people > > with low bp it seemed to raise it... their not sure why, but in me > > it worked!! > > For me i find it just 'smoothes out the edges' of how im > feeling... > > regulates my heart rate (even when my bp is fine, i have a very > fast > > heart normally), and keeps my bp in check... > > might be worth asking about at least! > > I hear about SO many people that have trouble getting anyone to > take > > this problem seriously, but it really does cause a major disability > > in a lot of people... and just like a painful disorder, this one > > deserves treatment if its severe enough to interfere with normal > > life. > > Keely Quote Link to comment Share on other sites More sharing options...
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