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.
Here is the link: https://petition.parliament.uk/petitions/275249
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