Dysautonomia and EDS

Dysautonomia is a word that I have great difficulty in pronouncing. I would actually put it up there with millennium. It is a condition that shows up a lot on EDS forums and leaves a lot of people confused.

It is all to do with your autonomic nervous system, which is a network of neurons. This is a particularly busy network, responsible for controlling blood pressure, breathing, sweating, the bladder, heart rate, gastrointestinal tract mobility, pupil size and sexual function. It is also not largely under voluntary control. Any malfunction or disease of the system means you have dysautonomia.

It occurs in a number of disorders; one of which is Ehlers-Danlos syndrome. The abnormal connective tissue in EDS sufferers is the believed reason that dysautonomia rears its unwanted head. Hypermobility type EDS appears to be the most commonly associated form with dysautonomia. Not all patients with EDS develop problems with their autonomic functions, but it is quite widely reported.

Symptoms vary widely from person to person and can be very different depending on what your main issue is. The primary symptoms include excessive fatigue, thirst, dizziness or vertigo, heat intolerance  and gastroparesis (delayed gastric emptying). Sufferers may also find that they crave salt, have headaches often, are flushed in the face and have abnormally large pupils.

From what I have seen online and from contact I have had with EDS patients, gastroparesis (another delightful word) is one of more the common complaints. In short, it means that food remains in the stomach for longer than it should. The stomach contracts, controlled by the vagus nerve, to move food along to the small intestine for further digestion. When the vagus nerve is damaged, this process of contracting and moving food does not happen properly. The food journey is slowed or simply stops moving through the digestive tract.

Symptoms associated with this are not pleasant. Often chronic nausea and vomiting, with abdominal pain and feeling full very quickly create the perfect storm of suffering. Other complaints can include heartburn, bloating, erratic sugar levels and weight loss to name a few.

There are ways of having this diagnosed with x-rays and scans and it is worth chasing up if you are unsure or only think you are suffering with this condition. Better to know and deal with it accordingly, as I have found with EDS in general.

Lots more detailed information can be found by visiting DINET- the dysautonomia information network.

http://www.dinet.org/

Liquid Sunshine- A smoothie for your joints

Joint inflammation in a nut shell: It’s not fun. Exercise is an important part of looking after yourself when you have hypermobility syndrome. Inflamed joints often show up uninvited after doing physical activity, which is a shame as the pain often overrides the feeling of ‘yes I can eat another dinner because of all the calories I have burned.’ I find anti-inflammatory creams often don’t cut it, especially after running or lots of swimming. I was told by my last physiotherapist that most people crave something sweet after exercising (or all the time!?), which is where the anti-inflammatory smoothie comes in. Sweetness in a cup that is a pretty colour and good for you. BRILLIANT.

The first one I have tried is pineapple and ginger. Pineapple is not loved by all, whether or not that is the extremely tangy taste, or the fact that is SO yellow I am not sure, but it does have good anti-inflammatory properties. Prepare for science:

 Pineapples come from the bromeliad family of plant, which rarely produce edible fruit, not entirely surprising as pineapples don’t look particularly mouth-friendly, but they are the exception. Bromelain is an enzyme which is used to help clear up all sorts of health issues. Included in this is asthma, breathing problems, a boost to the immune system and reducing inflammation. It is also famed for its pain relieving element.

Ginger is pretty much as super a food as you can get. In terms of anti-inflammation, it contains gingerols, substances which are believed to be behind the reduction in pain for sufferers of arthritis who regularly consume ginger. It is also, in my opinion, absolutely delicious.

With smoothies I often just use enough fruit to make myself one large glass, because I think they taste best when they are fresh. For this yellow delight chuck in:

-          3-4 rings of fresh pineapple

-          A handful of chopped mango

-          A medium piece of ginger, about 2 inches long

-          A few blueberries (because they are just generally SO good for you)

-          1/4 pint of coconut water (or more or less depending on your stance on coconut)

-          About a tsp. of fresh vanilla

Warning: results may look a bit like liquid sunshine, don’t be alarmed.

Rare Disease Day- Annabelle's story. Life with Vascular Ehlers-Danlos syndrome.

Today is Rare Disease Day. A day for understanding and awareness for those suffering and dealing with rare diseases all over the world. This year is set to be the biggest yet, with more communities and countries participating than ever before.

Ehlers-Danlos syndrome is a rare disease that needs more awareness and attention, to stop people from looking confused or perplexed when it is mentioned or explained. It is also important for understanding among medical professionals.

The syndrome has seven types:

Vascular

Classical

Hypermobility

Kyphoscoliotic

Tenascin-X deficient

Arthrochalasia

Dermatosparaxis

                                               

Meet Annabelle:

Annabelle Jane Griffin is five years old and suffers from vascular Ehlers-Danlos syndrome. This type of EDS is the most rare, caused by faulty collagen III, and is life threatening and incurable. The characteristics include thin skin, premature ageing of the skin on the hands, feet and shins, large eyes, nasal thinning and small ear lobes. The most threatening and concerning part of vascular EDS is the potential spontaneous rupture of medium/large arteries at any age, starting usually from mid-adolescence to later in adult life.

Arterial rupture accounts for the most deaths in sufferers of vascular EDS. A torn artery can result in internal bleeding, stroke and shock. The ruptures happen due to weak collagen in the tissue of the body and while most sufferers don’t have many problems as children, they will encounter serious problems by age 40.

Handling Annabelle’s illness is a daily challenge for her Bury based family- mum Sarah, dad Jared and two brothers Oliver and Ryan, who work tirelessly to both look after her and raise awareness. It is not just EDS that Annabelle suffers from; she also has Hypermobility syndrome and blood disorder Von Willebrand.

Annabelle, affectionately known as AJ, was diagnosed with Vascular EDS on December 19^th 2012, aged 3. She is one of the youngest children to be diagnosed in the UK after months of tests and her family know of no genetic history of the syndrome.

Hypermobility syndrome, a hereditary condition which means muscles, tendons and ligaments around the joints are more supple and stretchy than normal, is already affecting AJ. She gets tired very easily from walking and can only manage short distances before needing a rest. It is possible to be hypermobile without feeling pain, however those with the syndrome generally do suffer from sometimes severe joint pain, which unfortunately AJ does.  This means sometimes even basic tasks, like drawing, can become too much. Her flexibility is high, with clicking in her wrists which can be an indication that dislocation will happen in the future.

The blood disorder Von Willebrand means AJ suffers from deep bruising and excessive bleeding from the slightest of knocks. Blood does not clot easily and wounds can often bleed for much longer than they would in normal people, sometimes requiring medical attention. AJ’s parents noticed that she bruised easily as a baby, sometimes just from tickling, and pushed to be referred by their GP. A blood specialist recognized that she had Von Willebrand, and also referred her to a dermatologist for her thin skin. This then led to a referral to the EDS Diagnostic Centre based in Sheffield.

The process of diagnosis was of course very difficult for AJ’s family. The bruising was a daily occurrence, which unfortunately meant people judged just by looking at her, which is a sad but realistic experience for parents with children suffering the same illnesses as AJ. The bruising can lead to social services intervening and children being removed for fear of possible abuse. Another strong reason that these conditions need more awareness, in both the medical world and among the general public.

The combination of these three conditions mean that AJ’s every move has to be watched extremely closely by her family, which is not easy for parents who want their five year old to lead a normal life.

AJ is looked after by a medic team at the Royal Manchester Children’s Hospital by three consultants; a haemotologist, dermatologist and paediatrician.

Her family work hard every day to look after their happy little daughter and sister and are currently working on registering Annabelle’s Challenge as a charity. They have a website with lots more in depth details on AJ’s health and support for other suffers: http://www.annabelleschallenge.org/about-aj/

There is a lot coming up on the calendar for AJ including Annabelle’s Challenge Crystal Ball, taking place at Village Resort Hotel in Bury. Tickets can be purchased on the AJ’s Challenge website.

AJ’s family are also supporters of EDS UK, a UK based charity that supports sufferers of EDS. More information can be found on their website: http://ehlers-danlos.org/

You can follow AJ’s Challenge on Twitter- @AJsChallenge and they are also on Facebook https://www.facebook.com/AnnabellesChallenge-

Help Rare Disease Day to do its work and spread AJ's story.

http://www.rarediseaseday.org/

Rare Disease Day 2014

On the 28^th February it is Rare Disease Day. This is the seventh official RDD, which is co-ordinated by EURORDIS. In the past more than 70 countries worldwide have taken part in planning activities and raising awareness for chosen diseases. The day aims to grab the attention of the public and decision makers about rare diseases and the impact they have people. You don’t just have to have an illness to suffer, suffering spreads to family and friends too. A lot of people who write about having Hypermobility Syndrome and Ehlers-Danlos online often refer to feeling alone when it comes to their health problems. This isn’t the way it should be as these conditions are not rare, they are just rarely diagnosed.

http://www.rarediseaseday.org/article/about-rare-disease-day 

The Rare Disease Day website has ideas and information about getting involved. The theme of this year is care, better care and caring more! The RDD team have a Facebook page and Twitter feed with information updates. Worth a look if you are a rare disease sufferer. I’ve found a lot of people take comfort in knowing they can have a support system, and relief when they find one that suits them.

https://www.facebook.com/rarediseaseday

https://twitter.com/rarediseaseday

http://www.youtube.com/rarediseaseday

Eating for your joints

I stare at a pot of cod liver oil capsules on my desk at work every day. Not the most pleasant of views. Even the use of the words ‘liver’ and ‘oil’ upset me slightly. Of course they are extremely important for good joint care, as physios and doctors have told me time and time again, meaning I have a daily ten second meeting with Seven Seas. Cod liver oil capsules aren’t the only thing you can do to give your joints a helping hand. Hypermobility sufferers should take extra care in looking after joints. One way to do this is through one of life’s greatest pleasures- food.

Glucosamine is a good place to start with eating your joints healthy. It is a compound that is found naturally in the body and produces glycosaminoglycan, which is a cartilage repairing molecule. Oooh science. Your body will do its best to repair your joints should cartilage damage happen, but it will do an even better job if you have a rich supply of glucosamine.

Shrimp shells, lobster shells and crab shells all contain glucosamine. This may not sound like the most appetising collection of snacks, as the shells are often considered difficult to digest and are often discarded. However, if you are a budding chef and have an experimental streak in the kitchen, the shells can be ground down and added to soups and casseroles.

If this is all a bit much on the effort front, try sports drinks. While some are very sugary and calorific, there are lots of lower sugar and less calorie options around too. People with hypermobility, when they are able, should be doing exercise anyway, so having a sports drink when you are being a good person and working out makes perfect sense. It’s important to try and be helpful to your body with glucosamine, as the body makes less as we age.

Manganese is a helping co-factor in building cartilage and is much easier to add into your diet. The manganese will aid the glucosamine to keep your joints in good shape. Simply eating more beans, nuts, whole grains such as bread and cereal, seafood and leafy vegetables can give you a good dose of manganese. Drinking milk is helpful too.

Seafood is a bit of an emerging pattern here and it is a champion when it comes to omega 3 fatty acids. You can only get this from including it in your diet or taking supplements. Your body factory won’t be whipping any up on the production line, so it’s important to throw some in. The anti-inflammatory assistance from omega 3 helps to calm down pain and swelling in joints, something hypermobility sufferers know plenty about. Eating fish like cod, salmon, sardines and trout are ideal, as are walnuts and eggs. Flax seeds are also very good for omega 3, and can be found in some breads, or can be sprinkled on cereal or in yogurts.

Stepping away from fish, vitamins C and E should be featuring in food diaries. They help to produce collagen, which is a key factor for hypermobility.  http://bend-trend-hms.blogspot.co.uk/2013/11/science-and-no-more-silence.html

Corn, nuts, potatoes, oats, papayas, broccoli, tomatoes, strawberries and of course all citrus and zingy fruits are a good place to start.

A lot of activities that come with hypermobility are unpleasant and painful, so eating to be helpful is definitely a nice change from the clicking, cracking and aching of physical therapy and exercise.

Joint Hypermobility, Hypermobility syndrome and EDS hypermobility- Who gets it and where from?

“Why me?” is a question I frequently ask when I’m nursing a shoulder or a hip that feels like it has just come back from war. Before I really knew about hypermobility syndrome and Ehlers-Danlos, I thought I was just spectacularly unlucky to have these bendy joints and stretchy party tricks. No one seemed to have heard of these conditions and doctors seemed to find a million other possibilities for the pain.  This actually made it feel worse in hindsight. Not knowing why you are in pain or where it has come from only seems to make everything feel more gloom and doom. The realisation that actually, this is more common than you might initially think and has most likely been passed on through genes at least brings some logic and understanding into play.

Abnormal collagen provides strong evidence that hypermobility, either in itself or in the form of the painful syndrome, can be inherited. In some families, members may be affected in different ways, often with people not knowing they were affected at all. In terms of passing it on to children, simply put, if only on parent is affected, then there is a 50/50 chance the child will be. However, hypermobility varies so much that there is no telling in which way children will be affected, if at all.

Inheriting joint hypermobility is not always the case, as it can be acquired by gymnasts and athletes through stretching and exercise.

Girls are affected more than boys. The reason for this is that female joints are more supple than men, particularly when younger. Women have a hormone called relaxin, which is responsible for the expansion of the pelvis during childbirth. The combination of mean the chance of having hypermobile joints is higher.

Recognising hypermobility in children is important, as there are exercises that encouraged and other things that are discouraged. See http://bend-trend-hms.blogspot.co.uk/2013/11/joint-hypermobility-in-children.html

People who have Down’s syndrome are often hypermobile, but this isn’t to say that there is a link between this and hypermobility syndrome. http://bend-trend-hms.blogspot.co.uk/2013/11/joint-hypermobility-in-children.html 

Ligaments are stretchy bands of tissue which hold bones together (in most cases). They are key to the movement of joints. They help to control the range of movement and are important for stability, allowing bones to move in proper alignment. Proteins make up the tissue in most ligaments, and these proteins are collagen. The collagen fibres tend to bind together as the body grows older, which can account for stiffness with old age. This means that hypermobility is more common in younger people and it is thought that the symptoms of the syndrome lessen with age. People who have hypermobile joints but not hypermobility syndrome are likely to find they become less flexible as they become older and can sometimes find stretching painful as they move into their 30s and 40s. Each case is very individual, so it is hard to predict exactly what will become of hypermobile joints in different people.

Ethnicity can also play a role. People of different ethnic backgrounds have different ranges of joint mobility. This can mean different structures of the collagen protein.

Ehlers-Danlos hypermobility type can be established by looking at family history as well as clinical examination.

Swedish massage for hypermobility syndrome and Ehlers-Danlos hypermobility type

I used to think it was only old people who complained that cold weather made their joints ache and seize up, but I stand corrected. Since the colder weather set it my joints have been extremely painful, to the point where I have been standing at my desk covered in heat patches and wearing as much deep heat as clothes. There isn't one clear and concise explanation behind the link between the cold and joint pain that I can find, but it seems to be a widespread thing, particularly in the hypermobile community. Apparently, air pressure is the culprit behind these wintry aches, causing knees, shoulders, backs and in my case lately, every single part of the body to hurt more.

When it gets colder and dreaded winter sets in, air pressure drops and there is less atmospheric pressure, this causes the soft tissue and ligaments that surround our joints to become inflamed as they expand. This swelling stimulates the many nerves that dwell within the tissue, leading to the pain. How very scientific.

There are countless articles online that target joint pain in winter offering hints and tips such as ‘dress up warm’ or ‘use heating to warm rooms.’ Ground breaking stuff. What would we do without the internet? In any case, I have been covering my shoulders with a monstrously big scarf as they have been so painful lately that even the sight of my work bag sends them into panic. Back pain has also come hurtling along with the cold weather, arriving just in time to enjoy some festive fun. Swimming has helped this a bit. Breastroke in particular seems to make my shoulders and back feel less tense, but overdoing it even a tiny bit can cause more pain. I felt better after about 10 lengths last Friday, so that is probably enough to start with.

Swedish massage

I have looked into massage with hypermobility syndrome a lot since being diagnosed. There doesn’t seem to be a clear answer as to which kind, if any, are the most suitable. It is obviously a very individual thing. Deep tissue or ‘sports’ massage has a lot of mixed reviews on forums for hypermobility syndrome, with a lot of people experiencing even more pain afterwards. I was recommended to stay away from this by one of my physiotherapists as she said too much stimulation can simply move areas of pain around rather than easing pressure and helping pain to subside.

 Swedish massage, from the holistic family, is a gentle form of massage often performed by beauty therapists. I am lucky enough to have beauty therapist trained in massage as one of my best friends, so I decided it was time to indulge. My back pain has been the worst ever the last few weeks, the knots around my shoulders and in my lower back have felt huge. Deep heat and heat patches help to ease the pain for a while but after having them massaged and worked out, my shoulders feel almost brand new. (Well as new as hypermobile shoulders can feel.) It did hurt, especially down the middle of my back and underneath my right shoulder, which is where the worst of my pain has always been. The crunching and clicking was quite special and I did begin to worry that it would do more harm than good, but I cannot recommend enough. My hypermobility issues mainly reside in my shoulders and hips and these areas both feel tons better since massage day. My shoulder has felt knot free and some light swimming the next day helped to make it feel steady. My hips have felt almost entirely pain free since. I was told that wearing shoes that absorb shock well, with a small heel, will help my hips in the long run too. The next day does come with a bruised feeling and you have to drink lots of water immediately after and make sure you keep active, but for me it has been worth it. Also on a completely unrelated note, it is lovely when you are nursing a slight hangover, as I found out. Swedish massage definitely gets a place on my pain-easing list.