anna

Ok after the post on POTS PR I thought I would see what came up when I searched "Grinch syndrome" I was a little shocked and I am not the sort that is easily shocked! Have a read of this link from the British Heart Foundation the UK's leading heart charity. Exercise may be better than drugs for rare ‘Grinch Syndrome’, says study Treating people with a rare heart condition known as Grinch Syndrome with exercise rather than medication could better improve their quality of life. Formally known as Postural Orthostatic Tachycardia Syndrome (POTS), the condition means people’s heart rates increase if they sit or stand upright because their heart is too small to pump blood effectively around the body http://www.bhf.org.u...aspx?page=13311 Now I know I am a pedantic sort and can be a right pain when I get stuck on an issue but am I reading this Quote right. Does it read; Grinch syndrome (official name POTS)?!

To be honest I think when you start pointing out problems with certain Dr.'s methods, interventions, you make all the Dr.'s jittery! A number of Dr.'s out there are trying hard to find out what is going on with us, unfortunately we also have Dr.'s that are a tad aragonite and think their theories are right and no common person can know more than them and no amount of facts are going to sway them it is their personality that is at fault and they will go down telling you the sky is green regardless of what evidence they have in front of them. I would like to suggest a subtle approach that might be of use to the real Dr.s that actually care. Could we have a section on this site that we could log our own factual and medical information that relate directly to us, something like a data bank that we could direct Dr.'s and researches to. Some thing like, clear medical history, symptoms, medicine tried ones that work and so on. We could keep info on a no name basis if that feels better, with a contact code or something should Dr.'s want more info from us.

I found some information on gene defects found on Chromosome 7 where Ehlers Danlos syndrome turns up, it was interesting to see what other conditions that run through the EDS side are to be found on Chromosome 7 https://public.ornl.gov/site/gallery/originals/Chrom07.jpg

This is very interesting.

I am not sure if this has been posted before but it is worth printing off and carrying around when visiting ER's etc!! http://www.ncbi.nlm.nih.gov/pubmed/18977825

I am very concerned about the Mayo 'boot camp' type rehab programme it is very much like the Joint hypermobility/POTS rehab programme at a big children's hospital in the UK, the link has some info. http://www.the-rheumatologist.org/details/article/865565/Function_Despite_Pain.html

Hello Jon, I just saw a episode of Harry's Law (I am the UK by the way) it mentioned about micro head injures in US footballers, now I realise this is a fictional show but I looked post concussion syndrome up on the net and I wander if any of this might lead to ANS dysfunction in any way. I noticed you played college football so I wandered if there could actually be something in it, also I note you had surgery, some of the folk on here have had issues post operatively, so this might be an issue for you. The main thing though is to try and find a Dr. that knows about POTS and ANS dysfunction to run some tests you could do a poor mans tilt table test at home if you have a Blood pressure monitor. Try not to worry too much I know that is easy to say not so easy to do but still try! Sure others will have more to add, take care.

The following link on somatoform disorders make me realise why so many Dr.'s look at me and my children as if we are mad, http://emedicine.medscape.com/article/918628-overview#a1

Ok my self not diagnosed as yet, but had symptoms from very young, (female) Daughter symptoms from babyhood and my twin boys symptoms from babyhood.

Well from what I was told it was because the small valves that should stop the blood from going backwards do not work properly. I will just find the proper tech terms my head is on go slow at the mo.

Isse can I ask you to do a little experiment?! Can you lean forward, as if to touch your toes, then come back up slowly. When bending forward do you feel pressure in your throat, does your head feel as if it wants to pop and do you have big pressure behind your eyes?!

Professor Grahame explanes some POTs issues are like those found in COPD. Autonomic Disorders occur in 78% of patients and include Vasodepressor Syncope and Postural Orthostatic Tachycardia Syndrome (PoTS - increased pulse rate on standing or prolonged sitting can result in reduced blood supply to the brain and compensatory high adrenaline levels. Symptoms include fainting, dizziness, fatigue, poor concentration and memory problems, headaches, palpitations, tremor, sense of anxiety, nausea, sweats and visual problems. PoTS can produce functional impairment similar to that found in COPD and heart failure). RODNEY GRAHAME CBE, MD, FRCP, FACP Emeritus Professor of Rheumatology, University College Hospital, LONDON.

I tend to be with Rema on this, I think Diamox helps with the symptoms but the cause in that theory is not quite right.

It could also be caused indirectly by POTs, if you have gastroparisis or GERD, that for some folk can be due to their ANS dysfunction. One thing that is said to help reduce this problem is having the head of your bed raised, it helps keep back flow down.

I found this, which is of interest to me because along with the ANS stuff EDS I also have familial myoclonus, which has now been re classified as; Myoclonus-dystonia (M-D) is a movement disorder characterized by a combination of rapid, brief muscle contractions (myoclonus) and/or sustained twisting and repetitive movements that result in abnormal postures (dystonia). The myoclonic jerks typical of M-D most often affect the neck, trunk, and upper limbs with less common involvement of the legs. Approximately 50% of affected individuals have additional focal or segmental dystonia, presenting as cervical dystonia and/or writer's cramp. Non-motor features may include obsessive-compulsive disorder (OCD), depression, anxiety, personality disorders, alcohol abuse, and panic attacks. Symptom onset is usually in childhood or early adolescence but ranges from age six months to 80 years. One cause is the mutation below, that is of real interest as it is linked to a collagen fault in the COL1A2 area. Microdeletion 7q21. However, at least six persons with interstitial deletions that include SGCE have been described: five had typical M-D and one, a nine-year old who had no signs of M-D, had split-hand/split-foot malformation and sensorineural hearing loss. This child and one other had facial dysmorphism and cognitive delay. Additional findings noted in these six individuals included short stature (4), joint laxity (3), bone fractures (2), severe early generalized osteoporosis with necrosis of the femoral head and cartilage defects leading to hip and knee replacement by age 25 years (1), blue sclerae and cavernous cerebral malformations (1), and hypodontia (1). These findings are most likely the result of deletion of a number of contiguous genes including COL1A2 and KRIT1[DeBerardinis et al 2003, Asmus et al 2007, Grünewald et al 2008]. One additional individual with M-D, language delay, dysmorphic features, and a seemingly balanced de novo reciprocal translocationwas subsequently found to have microdeletions of 7q21 and 9q23 [Bonnet et al 2008]

My maternal grand father had Parkinson's all the females on my mothers side eventually had some form of dementia set in, though they only started showing symptoms well into their 80's so may be more age related I suppose. I have hereditary essential myoclonus (just found out the name of this condition was changed to myoclonus dystonia some years back.) my fathers side of the family had strokes as a big problem!

Hi Rich, Sending you best wishes for a speedy recovery.

I just posted this on your other thread, Rich have you looked at Dr.Diana Driscoll's theory yet?! While at the moment I do not agree with this being the cause of my ANS dysfunction, many have found her protocol very helpful.

Rich have you looked at Dr.Diana Driscoll's theory yet?! While at the moment I do not agree with this being the cause of my ANS dysfunction, many have found her protocol very helpful.

Same here as well

Issie I hope your detox goes well, I was on the verge of stopping my BP meds to see what happens, but will wait and see if my son's Dr. has any input first, take care I will keep you posted. All the best, Anna

Issie maybe with our two brains working on this we may get some where! My boys are due to see their Dr. in a few weeks I have made up a long family medical history for him maybe this might help him get his head around all this. I will keep posting ideas ok.

Rama- You tested positive for norepinephrine transporter deficiency, my children's Dr. wants them tested for this, did it prove a useful diagnosis or does it just add to the confusion? For the last 10 years I have been treated for elevated BP, but before I was put on CCB's I had Rynards (SP?) tried Nitro felt like my head would explode, so stopped that. Anyway up until I was in my early 30's my BP was low and I had all the stuff that goes with a low BP, then my BP started going up and up, when my legs were down, still low when supine! even now on 2 BP med's I have very low supine BP going normal to high on standing if I add in any stress adrenaline my BP is in the danger zone! So still looking for answers!

I just found this and think it may be of interest to some; ORTHOSTATIC HYPERTENSION AND DYSAUTONOMIA Orthostatic hypertension has also been associated with a number of conditions involving some form of autonomic dysfunction. In a recent study of patients with POTS in the context of disordered mast-cell activation, 38% (3/8) were shown to have orthostatic hypertension.19 Interestingly, in this group of patients, the orthostatic hypertension manifested as either a persistent hypertensive response to assumption of an upright posture or as a hypertensive crisis, with BP as high as 240/140, with upright posture. This has not been observed in patients who have POTS but do not have mast-cell activation disorder. Patients with baroreflex failure may also occasionally experience episodes of orthostatic hypertension.26, 27, 28, 29 These episodes are especially likely to occur in patients presenting with acute baroreflex failure. In the initial days and weeks after onset such patients have orthostatic hypertension immediately on standing, though it usually declines somewhat over the following few minutes. It is not a universal manifestation of baroreflex failure, which is more typically characterized by labile blood pressure and heart rate which track together. In a final phase of baroreflex failure, usually months to years after onset, orthostatic hypotension is more typically the dominant hemodynamic expression of the disorder. In the rare syndrome of norepinephrine transporter deficiency, an increase in blood pressure with upright posture can also be seen.30 http://www.nature.com/nrneph/journal/v2/n8/full/ncpneph0228.html

Hello forevertired, I was diagnosed with Hereditary Essential Myoclonus by a neurologist (I think he had an interest in movement disorders as he also run a dystonia clinic) after a number of tests to rule out epilepsy. I think the main reason the HEM has been tied in with the EDS is that each and every member of my paternal family that have HEM also have classical EDS, thus the geneticist has linked the two conditions as co-morbids in our families case. Though I have been thinking about this over the last few days and do wander about this, I have had the myoclonic type jerks since I was a baby from all accounts, I would trip and spill things all the time, I have the movement every day, they are more like action myoclonus though, mine start in my tummy and radiate out to arms, legs and neck, these movements fluctuate, some days I can have little only mild involvement, other days I can hardly walk, due to the movement being so violent that it throws out my joints. I have found no relief from the meds I have been given to help with this, small amounts of alcohol can help reduce the movement sometimes but I do not tolerate it well ha that is probably a good thing! A number of Dr's have questioned whether the myoclonus may lead to my ANS malfunction, and we have a Dr. looking into to this at the moment.