anna

My father in law had some issues with collapsing esophagus, related to his PAF type illness, but by that time, he had many more advanced ANS symptoms, which seems to be the way things progress with such conditions. Lots of other things might have been to blame for reoccurring collapses, it might have even been age related.

As you have Chiari and scoliosis have you ever been evaluated for Tethered cord syndrome?! Tethered spinal cord syndrome is a neurological disorder caused by tissue attachments that limit the movement of the spinal cord within the spinal column. Attachments may occur congenitally at the base of the spinal cord (conus medullaris) or they may develop near the site of an injury to the spinal cord. These attachments cause an abnormal stretching of the spinal cord. The course of the disorder is progressive. In children, symptoms may include lesions, hairy patches, dimples, or fatty tumors on the lower back; foot and spinal deformities; weakness in the legs; low back pain; scoliosis; and incontinence. This type of tethered spinal cord syndrome appears to be the result of improper growth of the neural tube during fetal development, and is closely linked to spina bifida. Tethered spinal cord syndrome may go undiagnosed until adulthood, when pain, sensory and motor problems, and loss of bowel and bladder control emerge. This delayed presentation of symptoms is related to the degree of strain placed on the spinal cord over time and may be exacerbated during sports or pregnancy, or may be due to narrowing of the spinal column (stenosis) with age. Tethering may also develop after spinal cord injury and scar tissue can block the flow of fluids around the spinal cord. Fluid pressure may cause cysts to form in the spinal cord, a condition called syringomyelia. This can lead to additional loss of movement, feeling or the onset of pain or autonomic symptoms.

Hello Bren, As this is a new symptom to you, I would get your GP to run a few blood tests on you if possible as the type of rash with the other symptoms you mention are also seen in a few infections.

So Endothelium cell's do seem to be responsible for a lot of things, oh more reading, my head hurts!

I was put on Losartan 8/9 years back due to Very high BP, my GP tried a combo of meds, and finally we stuck with Losartan and Amalodipine a calcium channel blocker, I had lots of what I now know is ANS issues going on at the prier to being put on the BP med's but Dr.'s just thought I was a little mad!!! well it is so odd that once on the BP meds my ANS stuff eased off allowing me to function, now I can see why that might have happened!! Julie you may find this article quite interesting: http://bloodjournal.hematologylibrary.org/content/91/10/3527.full

Ok so might this be the connection:- Endothelial cells form a single cell layer that lines all blood vessels and regulates exchanges between the bloodstream and the surrounding tissues. Signals from endothelial cells organize the growth and development of connective tissue cells that form the surrounding layers of the blood-vessel wall. New blood vessels can develop from the walls of existing small vessels by the outgrowth of endothelial cells, which have the capacity to form hollow capillary tubes even when isolated in culture. Endothelial cellsof developing arteries and veins express different cell-surface proteins, which may control the way in which they link up to create a capillary bed. A homeostatic mechanism ensures that blood vessels permeate every region of the body. Cells that are short of oxygen increase their concentration of hypoxia-inducible factor 1 (HIF-1), which stimulates the production of vascular endothelial growth factor(VEGF). VEGF acts on endothelial cells, causing them to proliferate and invade the hypoxic tissue to supply it with new blood vessels.

Hello Ramakentesh, your input is interesting, I need to read more about Endothelial dysfunction. Issie, it is very encouraging that the l-arginine is helping, I will go look again at your threads, I now have high BP not well controlled! but when young I had very low BP like my 3 children. It is all so confusing!!!

http://www.uptodate....source=see_link The coronary microcirculation, which consists of resistance arterioles, capillaries, and small veins or venules, plays a major role in the delivery of blood and nutrients to the myocardium. In addition to its physiologic role, the coronary microcirculation is affected in a variety of systemic and cardiac disorders. These may be considered functional alterations, involving changes in the responsiveness of the coronary microvasculature, and structural effects, as with alterations in the number and diameter of the coronary microvessels. While much of the microvascular vasoregulation occurs due to metabolic and autoregulatory factors, microvascular tone and, hence, myocardial perfusion, is also influenced by the vascular endothelium. ENDOTHELIAL DYSFUNCTION Endothelial-mediated vasodilation is abnormal in a variety of pathologic conditions, including atherosclerosis, hypercholesterolemia, diabetes, hypertension, cigarette smoking, ischemia reperfusion, and aging. (See "Endothelial dysfunction".) The mechanisms underlying these abnormal endothelium-dependent responses include: A reduction in the synthesis and release of nitric oxide (NO), resulting in part from deficiencies in L-arginine, the substrate for endothelial nitric oxide synthase (eNOS), and the co-factor tetrahydrobiopterin. Abnormalities of G-protein signaling, resulting in reduced activation of eNOS in response to endothelial cell receptor activation. In addition, the enzyme arginase may be increased in activity after ischemia-reperfusion, decreasing the available L-arginine [1]. In some of disease states (eg, hypercholesterolemia, hypertension, and diabetes), there is increased vascular production of superoxide, which reacts rapidly with NO, leading to the formation of the toxic peroxynitrite anion. While peroxynitrite can produce vasodilation, it is a weak vasodilator; as a result, much of the vasodilator capacity of NO is lost. Although the initial studies demonstrating abnormal endothelium-dependent vascular relaxation in various disease models were performed in larger vessels, subsequent experiments showed that most, if not all, of these disease processes affect the coronary microcirculation in a similar fashion. I have seen lots of threads on Nitric Oxide does the above have any connection to NO in POTS research?!

I have been thinking again Yes I know not a wise thing uses up too much energy!! LOL Back to my idea about Dysfunction in the microcirculatory system due to Ehlers Danlos syndrome's weakened collagen. I found the following interesting! Small vessel disease symptoms include: Chest pain, squeezing or discomfort over your central or left chest Chest pain associated with discomfort in your left arm or jaw Chest pain that worsens with activity, though eventually it may occur at rest too Neck, shoulder, upper back or abdominal discomfort Shortness of breath Unusual fatigue A lack of energy

I posted this on another post! not sure if it may be of relevance; We are not sure what is going on in our family!! But it is odd that you mention microvascular spasms, my son had TTT yesterday and no POTS found but big big drop in BP on raising so Orthostatic hyportention noted, Dr. said he wonders if it is to do with micro vascular issues!!!!! Also for years we have all dealt with chest pain that radiates into neck down our arms typically this happens with exercise like running, or walking up hills. I have often wandered about angina due to spasms, and oddly some years back I was getting bouts of angina type chest pain, that were becoming a daily occurrence I was put on a Calcium channel blocker (and some other meds) for high BP and my angina type symptoms reduced! CCB are used to treat:- Prinzmetal's angina is a form of chest pain, pressure, or tightness (angina) caused by spasms in the arteries that supply blood to the heart. It is a form of unstableangina, meaning that it occurs at rest, often without a predictable pattern.

It is very odd because myself and my children very often have very low pulse pressure!

Join the ? POTS gang! We are not sure what is going on in our family!! But it is odd that you mention microvascular spasms, my son had TTT yesterday and no POTS found but big big drop in BP on raising so Orthostatic hyportention noted, Dr. said he wonders if it is to do with micro vascular issues!!!!! Also for years we have all dealt with chest pain that radiates into neck down our arms typically this happens with exercise like running, or walking up hills. I have often wandered about angina due to spasms, and oddly some years back I was getting bouts of angina type chest pain, that were becoming a daily occurrence I was put on a Calcium channel blocker (and some other meds) for high BP and my angina type symptoms reduced! CCB are used to treat:- Prinzmetal's angina is a form of chest pain, pressure, or tightness (angina) caused by spasms in the arteries that supply blood to the heart. It is a form of unstableangina, meaning that it occurs at rest, often without a predictable pattern.

I think Prof. M tends to do the ANS testing then sends you on, so I guess you would see cardio separately.

Hi and thank you both, the test was done using a state of the art electronic kit, So it might well be an error Ha Ha! But son did have many very narrow pulse pressure reading so I wander!

My son had a tilt test today they concluded No POTs but definitely Orthostatic hypotension showed up! I just have one little ? though is a BP of 102/100 a little odd?!! My son's readings were bouncing about every where but periodically showed a BP like the one I mentioned.!

Sorry but I am going to sound really stupid now, if a 'normal" non POTS person holds their arm above their head and one at their side do they to have one white hand and one blood swollen hand?!!!!!

Issie believe me, I agree with you whole heartedly that being positive is so much much more healthy for body and soul, than being the oh woe is me kind of person!!! Ha but I am also a practical sort of girl that will always fix what I can when it is broke!! For example in the UK if your child does not attend school regularly and you have no reason for why they are off school, Social services can get very nasty!! From a young age my kids had bouts of being ill unable to physically move off the sofa, thus they missed time from school, sadly the school head thought I was being an unkind mother that did not want my children to have an education, so she thought it wise to call in the SS! Had I not pushed to find out what was going on with my children's health I shudder to think what might have happened to them. Therefore while I strongly believe, that being positive and having a positive attitude in life is so very important, I also feel strongly that it is wise to be pro active and not to always take what life deals you lying down and sometimes we just have to deal with negatives!!

Mine vary! but I think the lack of cognitive ability is always up there!! To you dear folk with Myoclonus, have Dr.'s ever been able to tell you whether the jerks are from ANS stuff or Connective tissue side of things?! I have had noticeable myoclonic jerks (according to my mum) since I was a toddler! My children also have Myoclonus but not too noticeable unless they are tired. My Aunt and father also had the myoclonus and are noted to have probably had Classical EDS, which is what myself and my children are diagnosed with! Our geneticist said that the Myoclonus runs true alone with the EDS so he explained he thought it was most likely that we have a weird variant of EDS!!! But after being on a few diffrent boards I have come across a number of folk with EDS and Myoclonus!!

Yep Me and the children have EDS as well and my children started showing signs of something not being quite right from infancy, it is difficult to tell whether their problems were EDS linked or ANS stuff going on! They have constant daily fatigue, lightheadedness, brain fog, that they just get on with, then they have bouts of not able to function!! usually when they have caught a bug, which they seem to catch a lot of really!! This has gone on since they were young and we see little improvement really my daughter will be 20 soon and my boys will be 17 in not that long.

Hi Sue1234 This is Dr. D's web site:- http://prettyill.com/

Quick outline: "It is known that 33-50% of Classic and Hypermobile Ehlers-Danlos Syndrome patients eventually develop dysautonomia, otherwise known as "POTS" (Postural Orthostatic Tachycardia Syndrome). Some of these patients develop dysautonomia as a result of a retroflexed odontoid, Chiari 1 Malformation or cranial settling and the resulting basilar impression. Many Ehlers-Danlos patients suffer with the same symptomology with no evidence of a cause according to MRI imaging. It is the author's hypothesis that low-level External Communicating Hydrocephalus appears to be responsible for the constellation of autonomic and cranial nerve symptoms, and if present in the very young, an analysis of head circumference growth in the first 15 months of life should reflect abnormally rapid head growth, supporting this hypothesis." Ok I know it has been brought up before, but I just wandered if any of you have tried this Dr.'s med's regime, well the Diamox in particular?!!!

Yep, issie you are right, absolutely no need to make an illness define you, never have and never will. That is definitely some thing my children took on board with the grace and maturity of someone years their senior.

Here is a copy of an email from a young consultant cardiologist that took a look at my children! note the comment: " I think there is a market for this now" The bottom line was that there was no overt evidence of gross abnormality. As this was just one study pre-and post tilt I think it is very difficult to make any conclusions. Certainly there was no paradoxical response of vascular compliance on tilting and the HRV and sBRS responses were more similar to reported control data rather than those with POTS. That said the daughter's response was borderline on her HR increase for diagnosis of POTS. She was having very regular PVC's which made the average trend more difficult to interpret. I think it is a good idea for her to see Chris Mathias in London as mum mentioned as he has a special autonomic lab. There was nothing else that I mentioned to mum. I think if we start looking at these patients in more detail and I think that there is a "market" for this now, a specialised autonomic centre and protocol is required. Maybe something for the future. Please let me know if there is anything else and many apologies again, Damien.

I recall having symptoms as a very young child I am now 48, my children twin sons16 year olds and a 19 year old girl, they also had issues from very young as well!!! I think the biggest problem here is that Dr.'s specialising in ANS problems understand that ANS dysfunction & POTS have many causes that as yet are not fully understood. But then you get other Dr.'s not quite as knowledgeable that want to get on the band wagon as POTS is the "in" condition!!! they tend to fly in pick up on bits of studies and through out these 1 size fits all statements!! Like POTS in children gets better with age! I do believe the criteria for POTS in children and young adults should probably have different values as children have different base lines to adults I believe!

Not sure if this is relevant as your headaches are worse when sitting and better when standing but here:- Dural ectasia, an expansion of the dural sac surrounding the spinal cord, is one of the most common orthopedic manifestations of Marfan syndrome. The purpose of the present study was to characterize the clinical symptoms associated with dural ectasia in patients with Marfan syndrome and to understand the effects of symptomatic dural ectasia on the overall health of affected patients. Twenty-two volunteers aged 9-55 years with Marfan syndrome, and dural ectasia diagnosed by MRI or CT, filled out a "symptoms" questionnaire and completed an SF-36 health survey. Overall, It appears that the symptoms associated with dural ectasia have a marked impact on the overall health of patients with Marfan syndrome. Based on our findings, a "classic" picture of dural ectasia in the Marfan patient may consist of low back pain, headache, proximal leg pain, weakness and numbness above and below the knee, and genital/rectal pain. Symptoms, when present, are typically moderate to severe, occur several times per week (often daily), are commonly exacerbated by upright posture, and are not always relieved by recumbency. Our geneticist felt my sons headaches were likely due to this problem and that he had seen it a number of times in EDS patients of his. " i have been getting ringing, hissing, popping, uncomfortable hearing and hearing loss a couple weeks back with headache. I was concerned about my hearing and this pressure." I get these sort of symptoms with the migraines I get, which are often triggered by me putting my head back too far, like reaching up to a high shelf etc!!!