I never tire of the dramatic vistas which open up when I am cycling in the hills around the small Surrey market town where we live. I enjoy the warmth of the sun on my face, the fresh air, the satisfaction of powering along under my own steam. I can take descents Vincenzo Nibali style - I like to think - carving a perfect arc through the hairpins. When I can see that the road is clear!
I just wish my daughter could enjoy the countryside as I do.
But she is housebound, isolated by a terrible genetic medical condition which baffles doctors and scientists alike. She has Ehlers Danlos syndrome (EDS) and Postural Orthostatic Tachycardia (PoTs); she is grounded, physically and mentally.
The government is being petitioned to increase the research into EDS.
Why the zebra?
*There is a saying “When you hear hoof-beats
behind you, don’t expect to see a zebra.”
This is because they are taught to
look for the more common diagnosis, not the unexpected.
EDS is rare, so the
medical profession does not look for it, especially in young people.
That’s why
it is usually under diagnosed or misdiagnosed.
The condition presents hypermobility - bendy limbs.
Bendy limbs are a symptom of weak connective tissue – the stuff which connects bone, muscle and organs, body and mind together.
Many people have bendy limbs with no serious ill effects. But for a lot of people, it can be very painful and even lead to serious dislocations.
Here’s an analogy the better to understand this. Think of the human body as a chassis, such as that of a motor vehicle, that rigid framework upon which is set not just the body, but also the engine and all working parts.
Imagine the chassis is made of rubber, bends this way and that. So the driveshaft moves out of line, the engine stalls, fuel flow is unreliable.
You would change the vehicle. You cannot change the human vehicle.
She has orthostatic intolerance meaning the slightest movement can push heart rate sky high and blood pressure very low, resulting in giddiness, feinting in some cases. When this occurs there is a need to sit down immediately, and wait for it to pass.
She has sensory overload – the slightest sound is a thunder clap; bright colours dazzle and shimmer; move too quickly, dizziness.
There is chronic fatigue, which is a common factor also with sufferers of ME.
There is crushing anxiety – up to seven times greater than normal - triggered by an overreaction by the brain to what otherwise would be considered normal day to day stress.
I am free.
She is a prisoner.
Not permitted a smile of pleasure at the beauty of the Weald, as I am. Or to play football for a local team, as she once did when a schoolgirl - although she was so often exhausted afterwards. And so hungry we needed to quickly find a café on the way home. Years later and after endless appointments, she was diagnosed hyperglycaemic.
Well, that was a relief to know at last the reason for the angry, traumatic and embarrassing outbursts at the school gate all those years before.
No warning. Sudden and dramatic ravenous bouts of hunger, plummeting blood sugar levels, a craving to eat. Her mum would take a sandwich along to quell the hunger and anger.
She was a young adult when the PoTs kicked in. Although she didn’t know it was PoTs at that time.
One day, returning home across town the world started to spin.
Thank you, cardiac specialist Dr Nick Gall, of King’s College Hospital in London who considered her case merited further investigation. After a private hour-long consultation he determined to do for her what no other doctor had considered doing these past 20 years, strive to identify wider health issues through a variety of specialists.
Some 30 exhaustive tests later, over a 12-month period - thankfully arranged on the NHS - she was found to have PoTs (Postural Orthostatic Tachycardia) and EDS – which was diagnosed by the Royal Orthopaedic Hospital at Stanmore. For years she was considered to be suffering from ME, which presents similar symptoms to PoTs.
Her honours degree in broadcast production is the one shining positive in her life thus far, which came after a four year respite from illness over 10 years ago and which had taken her out of secondary education in her first term. She had recovered sufficiently to return to education in fits and starts, but needed to take care and to rest often.
That achievement stands as a marker to opportunities lost and although she began to relapse during her final term, she completed her studies. But the cruel effects of EDS means her future is now on hold.
For she is one of the “Missing Millions”, mostly they are young people and all with the same or related conditions. No longer seen outside their front door. In the absence of any understanding of this condition in the wider NHS, sufferers are left alone, cared for by parents who themselves can become severely stressed with worry and little respite. She discovered who her real friends were. They stayed in touch, bless them. Others drifted away. The isolation is awful.
Dr Jessica Eccles, NIHR Clinical Lecturer, Brighton and Sussex Medical School, offers hope for EDS sufferers. She is currently exploring how hypermobility causes such a range of disabling conditions.
She and her team have designed and are to test a new non-drug treatment for managing anxiety in those suffering with hypermobility and autism. There is evidence that people with this condition are wired differently, she says. But exactly how she doesn’t know. I insert a “yet” in there because I try to remain positive.
My mind is full of this as I ride, which necessity means cannot be for long, for my wife and I share caring duties for our daughter hour by hour. So I am able to get out for an hour and a half or so, usually first thing in the morning before the house is up, or sometimes it will be after lunch, on one or two days a week.
I’m lucky in that I am retired and so I can do this. Unlike my wife who works from home and so has very few breaks. Juggling home life with work deadlines is added stress.
Up and along and down the North Downs I will go, or perhaps on the mtb to Deer Leap Woods, there to glory in the tantalising view back down the valley to the town sitting in the curve of the hills, and the church spire reaching for the sky.
We all went down that route years ago, when Jenny was a child, on the Isla trailer bike hooked up behind me, with mum on a Raleigh Pioneer hybrid.
If she was well, Jenny would probably prefer to go film conferences – which she used to do with friends. That was years ago, when her condition allowed windows of opportunity to engage with the world – but carefully. Because there would be consequences – several days of aching limbs, brain fog, muscle pain.
Serenity, that was the sci-fi film she took me to see.
When neighbours were away, Jenny would look after their cats. She might also do a morning stint helping out in local charity shops.
But now the condition has closed even those few loopholes, those rewarding escapes which allowed her to dream, to plan her life. She had wanted to work in LA.
She was industrious, a natural leader, and CNN took quite a shine to her when she worked at their London news studio during the summer break in her degree course.
Now movement is too painful. It would take her 20 minutes to
manage the stairs. So she has confined herself to her room. She has
not left this room for over six months now. She becomes very depressed,
fearful, and the obsessive compulsion evident as a child has grown worse. There
are huge meltdowns. So her room offers a peaceful haven away from the clatter of dishes in the kitchen, away from voices which no matter how low can still be too loud. But her best friend’s bark – Toby, our Dachshund (right) – is no longer heard. For this sparky character, our friend, passed away in his 14th year, at the end of June and is greatly missed.
She would sometimes ask for Toby to be brought up to her for cuddles. Sometimes we’d see him at the foot of the stairs, peering upwards, wanting to visit, when we would take him up.
There are many constraints. There can be no longer be any visitors to our small cottage - sound carries. One carer must be here at all times, 24/7. The daily routine remains the same. Christmas, Easter – barely observed, they have become merely dates on the calendar.
There is a care management protocol to follow.
There is a need for several small portions of fresh food through the day – she has a slow digestive tract.
Sinus pain requires ice packs. Back and neck pain heat wraps, sometimes late into the night. We maintain a supply of fresh water. She was required to consume between three and four litres per day but this is now reduced.
There will be lemon drinks, mint tea, ordinary tea, Complan, Ready Brek. For lunch, nearly always a small portion of chicken, rice or potato and vegetables, after which she will take a glass of freshly made carrot juice with ginger.
The evening meal of homemade vegetable soup is followed by a small glass of broccoli and cucumber juice also with ginger. Ugh! There will be snacks provided overnight in case of need – dry Rivita crackers, a banana. A flask of hot water.
She manages herself a strict medicinal routine, rigidly follows her nutritionists guidelines – shades of her former well-organised self.
How different life can be. It is not really a life. That said, the condition is not life-threatening in itself. But the lack of movement, the loss of condition, physical and mental, poses future serious health risks.
The local GPs know all the details of her plight, courtesy of Dr Gall.
Yet over the years even though they have invited us to discuss with them any problems, they have never offered a routine health check, except when prompted.
Our doctor, a kindly man, admits to knowing next to nothing about the condition and yet he disputed her level of anxiety. She had dosed up with painkillers for his visit!
He was called out because of her repeated high temperature readings. He had never encountered this before and didn’t know what might be done to alleviate it.
Notwithstanding many others who have far more serious and often life-threatening conditions, this invisible and horrible illness puts sufferers through one of the stages of Hell.
She no longer reads books. Doesn’t read newspapers, or watch Television, nor go online. Has no idea what’s going on in the world. Doesn’t want to know.
The sensory issues have forced her to withdraw.
There is the occasional smile, when the pain eases. She will do her daily stretching routine, a very light workout in accordance with advice.
Otherwise she stares at the walls, at the sky through the window, lost in her own thoughts, whatever they may be. For there is no conversation as such. A sentence or two when she needs a hug or simply silent company.
There is a cycle shop up on the hill, a hill that be seen from her window if she cared to look.
This shop is aptly named Destination Bike and more often than not that will be my destination occasionally. I can be there in 30 minutes. A 10-minute stop. My escape.
Excellent coffee and cake in there – and it goes without saying, excellent bikes and kit. The owner must be very fit. He and a dozen of his friends rode the Tour de France route in June. As you do!
The 1972 route, that is. They chose ‘72 because it had fewer transfers between stages than more recent editions of the biggest bike race in the world. This made it more manageable to organise, starting from the same town the Tour arrived in the day before.
The ’72 Tour was won by the greatest of them all, Eddy Merckx. It was his fourth victory of five in Le Tour.
That edition covered just over 3,800 kilometres in all, taking in the big mountains - the Pyrenees, Mont Ventoux in Provence and the Alps.
Lots of ups and downs. Just like
life.
I recall Jenny taking part in a tour of sorts, a one lap children’s cycle race on her Raleigh mtb, on the Crystal Palace circuit in South London.
I can still see her big grin as she pedalled furiously into view down the finishing straight. She was aged about nine. That was over 20 years ago.
www.ehlers-danlos.org
www.facebook.com/Ehlers DanlosUK
