The photo does not show very well, but notice the large red areas on her shoulders and arms.
I hope I can answer at least a few of your questions.
Regarding the neck pain: a type of pain known as "coat hanger pain" because it is focused in the neck and upper shoulders, sort of in the shape of a coat hanger, is very common in people with orthostatic intolerance (OI). I know I have seen it mentioned in peer-reviewed medical journal articles, but I don't have time right now to pull out my stash of journal articles to give you a citation this moment. If that's something you definitely want (to take to your doctor or what have you), please send me a private message and let me know and I'll work on digging up the citation for you as I have time to do so. I do know that it is specifically mentioned as a symptom of orthostatic intolerance in "The Fainting Phenomenon: Understanding Why People Faint and What to Do About It" by Dr. Blair P. Grubb, because I happen to be reading that book currently so it's fresh on my mind. As far as I have read, this book doesn't go into the specifics on the association between coat hanger pain and OI, but the journal articles I have read before have speculated that it may have to do with blood pooling in the abdomen and lower extremities in upright postures, thus leaving poor circulation to the muscles in this area of the body which ultimately leads them to fatigue easily and become painful. Again, I'll have to dig to find this as it's buried somewhere in all the research I have.
I've never seen elevated white blood cells mentioned as part of a primary dysautonomia. Blood tests, in addition to measuring the overall white blood cell count, measure three specific types of white blood cells. Doctors can often tell by which one of these is elevated vs the others the nature of the infection the body is trying to fight. Did the doctor give any insight into his/her interpretation of the labwork at all? At any rate, I'm not a doctor so unfortunately I can't interpret that for you, but I would be hesitant to associate a significant fever accompanied by immune response with the dysautonomia. You say she has low temperature and unexplained low fevers, can you explain more about that beyond this one incident?
The blotchy areas on her shoulders, arms, and chest are likely what is referred to as "flushing" and are a fairly common symptom among people with several different forms of dysautonomia. The autonomic nervous system is comprised of the sympathetic and parasympathetic divisions. The sympathetic controls flushing, so in a nutshell, if your ANS isn't running up to snuff, you may have strange flushing that seems to happen for little/no reason at all.
The discoloration of her feet is called "livedo reticularis" and is caused by blood pooling in the lower extremities upon standing. This is very common among those of us with orthostatic intolerance. Some people find a measure of relief in compression stockings (can be purchased through a medical supply store, experts on OI recommend at least 30mmHG compression, waist-high; insurance may pay for them with dr's prescription). Because your daughter has E-D, her blood vessels are likely particularly elastic, and vasoconstriction may be a real issue for her. Have her doctors started her on any medications for the orthostatic intolerance?
Welcome to the forum and I hope your daughter gets the help she needs at the autonomic clinic!
Thank you so much for commenting. The explanation for the pain in her neck really does made sense. I had not thought of it from that direction.
Her elevated WBC is not normal other than with this high fever so it may be completely unrelated to her normal medical issues. Normally, her WBC is normal, but her Neurophils and MCH are high and her lymphocytes are low. This time with the really high fever, all were the same for her except that the WBC were high. The ER doctor was not knowledgeable concerning anything he did not see, such as red throat or ear. He just stated that she obviously had an infection and gave her antibiotics.
Her normal fevers: Her normal temp is 97.6. She will often, since an infant, run a fever of 99 for 3-8 hours with no other symptoms. Then it just goes away. As an infant, the doctor called it an "unknown fever". It does make her feel bad, but as soon as it is gone, she is fine and goes about normal activity. I am assuming that since the autonomic system controls body temp along with other body functions that it is due to the autonomic disorder.
She has had no medications yet that have worked. We do not have a doctor in our area that knows how to test or treat autonomic disorders which is why we have an appointment scheduled out of state in April. She has the compression hose (waist high 30 mmHg) and has tried diet adjustments. None of this has really made a difference.
I am sorry to hear that the compression hose and diet adjustments haven't helped her, and that no medications you've tried yet have helped either. Sometimes it can take a lot of persistence to get to the right doctor and find the right treatment or combination of treatments to find relief. I think you are doing the right thing in seeking out more experienced doctors. Which autonomic clinic are you visiting?
Are the vision blackouts triggered by orthostatic intolerance, (like perhaps a pre-syncope or something?) or are they more random? Have the doctors offered any explanation for these?
Do the fevers occur at the same time as certain other symptoms or are they independent of her other symptoms? Have you found that certain things tend to trigger the fevers or do they tend to come on without provocation or warning? Does she get headaches?
Tell me to buzz off if I'm asking too many questions! I'm just trying to get an idea of her symptoms so perhaps I can give you as much information as possible from what I know that would be relevant to your daughter.
The center is the UT Southwestern Center Autonomic Clinic in Dallas. Her 1st really noticeable symptom were the blackouts in vision. Usually while walking, she loses complete vision in both eyes for 30 secs to 1 minute 15 -20 times a day every day for the last 4 1/2 yrs. No warning and only other symptom was nausea. It does appear to be pre-syncope. Feel free to visit her website with all of symptoms, testing results, blood work results, medications tried, family history etc. that I have set up to keep track of everything for me and for any doctors who could be of help. It is freewebs ******* slash kkrylee.
1 1/2 yrs ago the school nurse called to say that my daughter had a really bad headache and that she had lost her peripheral vision in both eyes and her pupils would not react to light. This began our intensive medical testing and specialists. Her eyes are fine. It is apparently due to pre syncope. The tilt test was our first definitive test showing Orthostatic Hypotension. The headache pressure at the base of her skull that began 1 1/2 yrs ago has NEVER left her. It is 24/7. She has recently started to get migraines also. But none of the migraine meds have helped and some have dramatically increased the pain.
The fevers just come on instantly with no other symptoms other than overall feeling poorly due to the fever and they leave just as fast as they came. We have tried a variety of things: keeping track of what foods are eaten, whether hose was worn, how much and what kind of fluid intake, etc but cannot find a trigger. Bright lights do not bother her, noise does not bother her. She does notice that too much sugar makes her feel a bit worse, so she tends to avoid sugar. Her glucose test were fine.
Visit the webpage for detailed into. I do appreciate your concern. You know how frustrating this is. To watch your child so ill and not be able to even give a definitive reason for it is awful. She starts college in the fall and plans to be a Pediatric Neurologist. She wants to eventually open an autonomic clinic in Louisiana (our state).
She has always loved medicine and biology and hopes to be able to help all the undiagnosed patients. She does not want anyone else to be told "you must be depressed because you're a teen." This is what we heard often at the beginning of our journey.
I applaud you for getting all that information collected in one place. I looked everything over and the thing I'm stuck on right now is her tilt. You're right that it seems a bit backwards for what one would expect of postural hypotension. Sometimes you can see a rise in standing BP in the hyperadrenergic form of POTS (postural orthostatic tachycardia syndrome), but from the looks of her heart rates, it doesn't look like it fits the diagnostic criteria for POTS. (Though, admittedly, some people with POTS will have a "borderline" or even negative TTT one day and then test glaringly positive for it another with no real rhyme or reason.) I know POTS is commonly associated with both MVP and Ehlers-Danlos. If not POTS, perhaps it is a similar mechanism that is run amok in her ANS ... something to do with her catecholamines? Hopefully they will be able to test those levels at the autonomic clinic.
It is not as easy as that. Her catecholomines were checked with a 24 hour urine sample and they were fine. Her internist has been extremely thorough with testing. I don't think there is much that has not been tested. Except, a sweat test and a blood flow. And the clinic in Dallas has scheduled a EMG Autonomic Nerve Conduction Study.
The Neurologist at Oschner thinks that it is autoimmune autonomic. Hopefully this clinic will finally give us an answer so she can begin some form of treatment. Thanks for your help and concern.
I'm sorry I couldn't be of more help. I really do appreciate how frustrating this can all be. Good luck with the EMG! (Some people--though not everyone--find the EMGs a little uncomfortable. I've had two, and demanded pie afterward as a reward for gritting my teeth through it. You may want to plan some kind of treat for your daughter for after the EMG in case she has any discomfort with it.)
I sincerely hope you get answers soon and your daughter finds effective treatment! Keep us in the loop if you can!
Hi. I came across this forum because my son recently began having symptoms of severe orthostatic intolerance, and I saw something in kkrylee's first post that caught my attention. She said that her daughter was diagnosed as having an enlarged globular pituitary, but without hormone imbalances. I'm no doctor, but I have been doing a lot of reading about pituitary dysfunction because my son has a large pituitary cyst that is causing symptoms of hormone loss.
It seems probable to me that some of kkrylee's daughter's symptoms are from the enlarged pituitary having compression, or some other effect on the hypothalamus. Many of her symptoms do sound like hormone loss. I find it hard to believe the pituitary enlargement has not been suspected, and more testing done for this.
It is not yet clear how my son's pituitary cyst is involved in his orthostatic intolerance,but I have only recently become aware that many of the symptoms he has been having, that have been attributed to hormone loss, are also well known symptoms of autonomic dysfunction.
I hope that kkrylee's daughter gets the help she needs soon. I would suggest that she see a neuro-endocrinologist or neurosurgeon, and get more info about her pituitary condition.
If anyone has any info on a connection between pituitary disease and autonomic dysfunction, I'm all ears!
Thank you for your concern. We have seen 3 neuros, 2 endo's, and a neurosurgeon. They all keep insisting that the pituitary (although very large) is normal for a teenager. I also consulted with a pituitary specialist at MD Anderson in Houston. He reviewed her 3 MRIs done on various dates focusing on the pituitary. He said that he would not rule out a tumor because there are somethings about the pituitary that don't look right, but he does not definitively see a tumor. Also, the pituitary did not increase in size or show changes between the MRI's done 10 mos apart. He said that it could be a very slow growing tumor and we just have to wait a yr or two for it show itself. We keep having new hormone test done (just had another one Thurs.) but they do not show any hormones really out of normal range. TSH showed high once and prolactin slightly high once. But other times normal.
She has so many things: mitral valve prolapse, orthostatic hypotension, spinal biffida occult, Ehlers Danlos, breast adenomas, and her vertebral artery ends in PICA instead of connecting to the basilar artery. Plus symptoms that may not match any of these things. That's what makes it so hard to know which way to go. Since one of her major signs is flushing after standing still for approx 5 min, the doctor is now checking for carcinoid syndrome or mastocytosis along with a repeat of some of the previous hormone testing,
I have definitely not ruled out the pituitary. But if it is the pituitary, there has to be something elso also to cause all of her symptoms. I have a site for her with her medical info. Her name Katie, then the word medical, then *******. If they do not delete this part, you are welcome to view her MRI's and info. I would be interested in seeing an MRI of another teen to compare hers to. I don't know if you have the MRI CD or not.
Again, thanks for your concern. I really wish you the best with your son's medical condition. We both know what a struggle it is for our children and for us to deal with this.