Disabling effects of PoTS shown in largest ever survey and how educating health professionals can help

Postural orthostatic Tachycardia syndrome or PoTS, is a complete bastard of a condition. It doesn't kill, thankfully, but it can quite often make you feel like you have no life in you.

It can be a condition on its own or a comorbidity of another condition, such as mine, Ehlers Danlos syndrome. 

In its extreme, life-altering state, it's pretty rare and extremely misunderstood. The charity PoTS UK, has teamed up with researchers and conducted the biggest ever survey of people - mainly women - living with the condition. The research, A profile of patients with postural tachycardia syndrome and their experience of healthcare in the UK is published in the British Journal of Cardiology.

It covered causes, symptoms and treatment options. You can find the whole survey here. 

Below are a few excerpts: 

Postural tachycardia syndrome (PoTS) is a recently recognised condition that usually affects younger women, who develop symptoms of orthostatic intolerance and a persistent tachycardia on standing upright. Healthcare professionals, patients and the national patient support group (PoTS UK) together created a survey, and the responses of 779 UK PoTS patients were analysed. The most common symptoms of PoTS at presentation were the triad of fatigue, lightheadedness and palpitations. Mobility, ability to work or attend education, and quality of life were significantly restricted. Cardiologists, followed by patients, were most likely to be the first to suggest the diagnosis of PoTS. Patients waited a mean of almost four years from presentation to obtain their diagnosis and, meantime, psychiatric mislabeling was common. Advice given to patients regarding lifestyle changes was variable, and those referred to specialist practitioners for help, found practitioners had limited knowledge about management of PoTS. Increased education of healthcare professionals and improved services for patients are recommended. 

And this is key. I find a little knowledge is a dangerous thing. If a health professional has heard of PoTS, their knowledge is usually incomplete and often based on faulty assumptions, such as, "Well your blood pressure didn't change quickly enough when you stood up so it can't be PoTs," or, "We did a 24 hour ECG and you were fine," despite numerous spikes in heartbeat of more than 30bpm when just standing or walking slowly up stairs (or half a staircase).

Treatments vary depending on if your symptoms are blood pressure or cardiac arrhythmia driven. For me, I have little blood pressure response, but my EDS means my blood vessels in my lower extremities are too stretchy to constrict quickly enough when I stand. This means blood begins to pool in my extremities, my brain tells my heart it isn't getting enough oxygenated blood and so the heart races to restore the flow. I feel dizzy, light-headed, pressure in my chest from a racing heart and nausea. It can continue for a while after I sit or sometimes have to lie down after the after-effects can linger for hours. On occasion, that's not enough and I have to put my legs in the air as well - tricky if you're out! If no chair is around, you'll see me bending completely over to try to even things out. So much for 'invisible illness'. 

The report says of PoTS:  

Diagnosis is usually made by active stand test or tilt-table testing. Few treatments for PoTS have been tested in randomised-controlled trials. Patients are initially managed with increased fluid and salt intake to increase blood volume, avoidance of symptom triggers (heat, prolonged standing, alcohol, drugs that induce tachycardia or hypotension), small frequent meals (low in refined carbohydrates), graded exercise (initially in a horizontal position) and compression garments to reduce venous pooling. Drug treatment can be aimed at reducing tachycardia (low-dose beta blockers, ivabradine, pyridostigmine), vasoconstriction (midodrine), boosting blood volume (fludrocortisone, desmopressin) or for their sympatholytic effects in hyperadrenergic PoTS (clonidine, methyl dopa).

My heart rate from 69 sitting to 151bpm 15 seconds later walking slowly half way up the stairs

Interestingly, 92% of the survey respondents were female and half had an additional diagnosis, like myself, of EDS. Many reported fatigue as one of the most debilitating symptoms.

Physicians call conditions like this 'benign' - i.e, you don't die from it. But believe me it feels anything but benign; it can be utterly life-altering and not in a good way.

As for diagnosis, many were wrongly told their condition was psychological or psychiatric- "It's all in you head, dear girl." Just writing that makes me extremely cross. And the least aware and the most important to educate? Your first port of call, the family GP. The report says: 

"In only 7% of cases did the GP suggest PoTS as a diagnosis. This may be due to lack of awareness in primary care about PoTS or the non-specific and multiple symptoms that are associated with PoTS. However, it is possible to undertake a 10-minute stand test in a consulting room, and perhaps this should be considered in patients with relevant medically unexplained symptoms or chronic fatigue, especially if there is a postural link to symptoms."

The impact of PoTS is considerable, with 23% becoming wheelchair users (including me, part-time for long distances) with 37% are unable to work. I am no longer able to be 'employed' but my time is used as a freelance writer, voluntarily with Special Needs Jungle and as a Trustee of Genetic Alliance UK. I am a 'real' Patient Advocate - I live it, and I work to help others. In other words, I don't do it for a living and I can't walk away into a better job when I fancy it. 

One of my first times out in a wheelchair in 2013

The most important recommendations in the survey report are education of health professionals and the need to improve accessible and relevant rehabilitation services. It's no good saying go away and do some gentle exercise when often even getting out of bed is impossible. 

I pay for a one-to-one Pilates instructor, who completely understands the conditions I have because she is similarly affected. Her career choice has kept her mobile (most of the time!). I'm aiming for the same thing, though it is often two steps forward and one step back; sometimes two back. I have been awarded a Patient Fellowship to attend the three-day European Conference on Rare Diseases in Edinburgh in May - that's a big goal to increase my fitness for!

But even now, three years on from the onset of chronic illness and pain, depression can flip on easily, from someone's unkind or careless word from someone - another battle to guard against. As a mum of older teens with both Asperger syndrome and milder EDS, I can't just think about my own needs. If it wasn't for my husband, I wouldn't be able to manage. 

Congratulations to Leslie Kavi of PoTS UK, named as a co-author of the report. Great work and hopefully this will be printed out by as many medical practitioners as patients. If you're a patient or carer, print the report out and pass it to your GP, physiotherapist, workplace if you have one or child's school or college. They're most probably too busy to find it, so help them out with their understanding. 

The survey has many more detailed figures and much more information. Once again, find the report here: http://bjcardio.co.uk/2016/03/a-profile-of-patients-with-postural-tachycardia-syndrome-and-their-experience-of-healthcare-in-the-uk/

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Not ready for wrinkles: My facial rejuvenation with Juvéderm CosmeticFillers

The years zip by so quickly, especially when you have children. You're naturally more focused on them especially, as in my case, when they have special needs.

Throughout my 30s, it was just head down, full-on searching for the right help and the right school as well as dealing with their difficulties.

Then, in my mid-forties, just as I was starting to get more time to start working part-time (besides founding Special Needs Jungle), I was knocked down by a huge and lasting flare up of Ehlers Danlos syndrome. It was prompted by hormonal changes and regrettably throwing myself into a new work challenge on top of everything else. My body ended up in a state of collapse. Since then, I've lived in pretty much constant pain, with limited mobility and that definitely takes its toll.

I remember catching a glimpse of myself in the mirror one day; it took a second before I realised it was me, worn out with dark shadows under my eyes. I looked again, a little closer, noticing the lines on the forehead, around the eyes and from nose to mouth that seemed to have appeared or become more pronounced in a short space of time. I tried to shrug it off, after all, I was getting older and lucky to be so, having lost dear friends to cancer in recent years.

But still...I didn't feel ready for wrinkles.

Sherina explaining my skin analysis

Soon after this, almost as if the universe was watching, the BritMums Blogging team put a call out for someone prepared to have a consultation about Juvéderm® cosmetic fillers and in exchange, to write about it. Well,  I didn't need asking twice - this might just be the pick-me-up I was looking for!

As we grow older, our skin loses moisture and elasticity and begins to show the signs of ageing. You've probably heard of hyaluronic acid; it is often called the "fountain of youth" and can be found in moisturisers, serums and is also used medically to improve joint disorders, so it's a safe substance.

Juvéderm® by Allergan, make injectable fillers using hyaluronic acid and say it's the only way to replenish the hyaluronic acid deep within skin. Juvéderm® says it was developed to be smoother than most hyaluronic acid dermal-filler treatments. This makes it easy to inject and gives the face a very natural look and feel once it’s in the skin.

I've had facials before of course, even had a facial with acupuncture, but I didn't know much about cosmetic fillers. However, thanks to Britmums, Allergan and Miss Sherina Balaratnam at S-Thetics in Beaconsfield, Buckinghamshire, I decided to take the opportunity to find out, up close and personal...

It's fair to say I'm pretty thrilled with the results. Several people have said how well I'm looking and one medic I saw at an appointment had to do a double take at my age on the form when I saw her. Now that's a result, I'd say!

If my video has started you thinking that perhaps it might be something you would consider, then these links will be of use:

• Juvéderm® UK: http://www.juvederm.co.uk/
• S-Thetics clinic and Miss Sherina Balaratnam: http://sthetics.co.uk/

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Christmas, loss, love & friendship and hopes for a better 2014.

Ah, Christmastime, eat, drink and be merry. I said BE MERRY, damn you! Peace, goodwill and all that.

2013 has not been the most auspicious of years for me. Actually it's really been quite horrid, with an occasional hint of a bright spot that has just about made it bearable. One of those included speaking at MumsNet Blogfest, which was quite a large bright spot.

My Blogfest session Photo: Anna Gordon

I'm not a religious person, but I am spiritual and to help survive the bad parts of this year, I've been trying to listen more closely to my psychic intuition.

In fact, something I read by Wayne Dyer the other day has changed my thinking even more. Dr Dyer wrote in one of his many books, You'll See It When You Believe It, that we are "not a body with a soul, but a soul with a body."

This concept has helped me enormously after the death several weeks ago of my wonderful friend Gulshanah. I understand now that she is not gone, but simply released from a body wracked with disease and pain. This does not, of course, make it any less painful for her family and friends, me included, that she is no longer here physically, but I have a peaceful feeling that I believe comes from her. It was incredibly distressing to witness, but I did my best to be a good and supportive friend and she knew that I loved her and will continue to do what I can.

So, life has been tough for both me and for my husband this year. This time last year I was acutely ill. A year on, my Ehlers Danlos Syndrome & POTs has become chronic with increasing joint pain and I am a part-time wheelchair user. If it hadn't been for the support of family and friends, including Gulshanah, as well as online groups such as RareConnect, I am seriously not sure that I would still be here to write this.

Another misery of 2013 is that my husband was out of work for five months and while it was devastating for our bank balance, having him around to rely on to take care of everything, and me, gave me a chance to rest, although a return to health isn't yet on the cards.

The losses, of a dear friend, my health, and temporarily, of our family income, have meant 2013 has been incomparable in terms of the amount of stress being heaped upon our heads. And of course, there are always the inevitable challenges of raising two Aspergic adolescents through the hormonal highs and lows of their teenage years.

Despite my illness, there have been people who still did their best to make life even more difficult for me, but I have been fortunate to have friends, both near and far, who have been there with good words and kind deeds.

I have learned that you must never underestimate the power of love, friendship and kindness. It has literally saved my life this year. Support, whether via a hug, a kind word, a thoughtful email, Facebook message or a Skype chat, or just by bringing me a cup of tea during a meeting so I don't have to get up, has made a huge difference. Even someone just thinking ahead to make sure I can get where I need to be in my wheelchair makes a difference and means I don't feel like I'm a nuisance or in the way.

If you have a friend who has a long term illness, a better way to show concern is instead of asking how they are, show them that you care about them. Asking "How are you?", means I can either say, 'Fine' (which is not true) or just shrug and give a wry smile, because I'm pretty sure that you don't want a lengthy run-down of how I actually am.

I'm hoping for a much better 2014 and that I can be a good friend to my friends when they need me and be well enough to support my family.

Although, as I said, I'm not religious, I have found that a particular passage from the Bible, I Corinthians 13:4-8 to be precise, can help us all with caring for others. You don't need to be a Christian to agree with it, either.

It's about love, but it goes just as well for friendship. They are also words I try to live by, though not, it has to be said, with total success at times. After all, I'm only human and far, far from perfect.

If you are trying to be a better friend or a better partner to the one you love, perhaps let these words guide you too. Please don't look at your other half and ask them why they aren't like this to you; just try to be like this to them and see what happens.

c: NotAsAdvertised2013

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Flipping fantastic, wheely great - gadgets to keep yourself going

So recently, I have found myself rather incapacitated and standing for longer than a few minutes is proving difficult.
It seems that while I was working in the sphere of one particular rare disease, another kind, EDS, that I have unknowingly had all my life, undiagnosed, was about to knock me to the ground and wipe the floor with me.
I was fortunate for a while that my husband had a gap between contracts and took over the washing, driving the kids about and doing the cooking while I spent large parts of the day asleep and generally being useless. I haven't been to the shops since November and am not likely to for the forseeable future. Thank goodness for online groceries and home delivery!
Eventually, my husband started his new job and I am now having to find ways to get about and do things like cook etc.
Being a solution-focused person, I sought out some mobility aids and this, demonstrated using Twitter Vine, is what I found. I thought I'd share them in case you or someone you know might find them useful.
First the seat flip-stick, a helping hand for standing longer.

Secondly, the saddle seat on wheels, height adjustable, so that I can do things at the counter-top and so on. Obviously, getting someone else to do it for you is preferable but not always possible.


The stool on wheels is a particular hit with the kids - now we need another to have races down the hallway...

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Raising awareness of Ehlers Danlos Syndrome - an under diagnosed rare condition

Lara Bloom, who runs the Ehlers Danlos Society charity, is making a documentary about EDS to help raise awareness of what is a rare but also an under-diagnosed condition. 

You can visit the charity's website here

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Rare Disease Day: Discovering the great work of small charities

We've just been to the Rare Disease Day event at gothic looking Royal Holloway University in Surrey. 

The boys were given the day off school and we headed out en famille, including Mr T (no, not that one).

We first took part in a discussion led by the Genes for Jeans/ Genetic Disorders charity about living with rare diseases such as neurofibromatosis and Huntingdon's Disease. There were a number of GCSE students there, including my boys, who were asked to ponder the question of whether they would undergo genetic testing if a positive result meant that they would discover that at the age of around 30, they would succumb to a devastating illness and early death.

Most decided they would rather not know, but that if they did they would try to live their life to the fullest. In fact statistics show that only 10% of those with a high genetic probability of Huntingdon's choose to be tested at age 18.

In the large picture gallery, rare disease charities had exhibition stands set up from Shine charity (Hydrocephalus/Spina Bifida), Tuberous Sclerosis, AKU, Myasthenia Gravis and Ehlers Danlos Syndrome among others and there were hands-on activities for learning about DNA and the genetics behind rare diseases.

We were especially interested in the EDS stand as Youngest is affected by this and I have also just been referred to the same specialist. 

I had a really interesting discussion with the team from the Alkaptonuria Society and the important research work that's being carried out to try to find a cure. The condition can cause severe pain, osteoarthritis and heart disease.

One really surprising discovery was that after almost 20 years, the message that Folic Acid can prevent spina bifida is still not common knowledge among women planning a baby. This is, apparently, because the main campaign was around the time when I was having my babies who are now 15 and 13, but awareness has faded. Another fact is that it is now known that women need to be taking Folic Acid three months BEFORE they become pregnant for prevention - it's too late once the mother to be is already pregnant. The Shine charity is trying to change this lack of knowledge.

The thing about rare diseases is that millions of people have them but there are many, many different conditions and the vast majority suffer from lack of investment in research and medicines.

• 1 in 17 people will be affected by a rare disease at some point in their life. 
• This amounts to approximately 3.5 million people in the UK. 
• 75% of rare diseases affect children and 30% of rare disease patients will die before their 5th birthday. There are over 6,000 recognised rare diseases. 

There are a number of people in my life who have various kinds of rare diseases. The youngest, my nephew Dylan, is just 4 years old.

There are also many wonderful people working to help people affected by rare diseases in the form of volunteers, charity workers for specific rare conditions, researchers, scientists and people working for rare disease organisations such as EURORDIS, Rare Disease UK and NORD.

There is much work being done and it's to be hoped that world-wide events like Rare Disease Day will help to raise awareness and bring in investment to help improve or save the lives of those affected by little-known conditions.

If you're looking for support for a rare disease, check out RareConnect, a multi-lingual forum that has more than 30 rare disease communities - maybe your condition is one of them. If not, why not start one?

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