One of the reasons I started to blog was because I wanted to make people aware of what living with Ehlers-Danlos Syndrome, Platelet function defects and everything that comes with them is like. I’ve had an idea for this post brewing for almost as long as I’ve been blogging, so as my penultimate NaBloPoMo post, here goes…
Only after the birth of the Cheetah Keeper and a very bizarre (but fortunate) set of consultations did I get an explanation for why my body has been going ‘wrong’ for almost as long as I can remember. Ehlers-Danlos Syndrome needs to be diagnosed by looking at the person as a whole and there were few in the medical profession at the time who did that – you see an orthopaedic consultant, they look at bones, you see a neurologist, they look at your brain, you see your GP, they think you’re mad/attention seeking/weird. Over time, medical practises have changed and now, very slowly, some health professionals are beginning to look a the whole body – what affects what, how physical health can affect mental health and vice versa.
With my EDS having a name for the collection of bizarre bodily goings on was a huge step forward. I could suddenly explain why my jaw partially dislocates when I yawn or why my hideously swollen ankles from pregnancy never really got better. It explains why I found it so difficult to breastfeed, why my symphysis pubis dysfunction was so extreme (to the extent my pelvis was rotating up to 3.5″ at a time – and yes, that really hurts) and still, 4 and half years after my 2nd delivery, still comes back. It explains my over-sensitivity to some hormones and why pain killers don’t work properly. It explains why I had such a hideous time delivering the Cheetah Keeper’s sister (this is as close to a birth story as you’re going to get – the PTSD was too much to revisit) and other things like why my feet break when I wear high heels.
This is just a snapshot of what EDS does to me – and mine isn’t nearly as dramatic as others. The diagnosis threw up a lot of ‘what if’s’ though – I was displaying signs from the age of about 3 but the paediatricians put it down to my mother being overly concerned. If I hadn’t swum to the degree that I did (I used to be able to swim 2000m in an hour at the age of 11) maybe the damage I did to my knees wouldn’t have occurred. If we had known what the underlying cause was, I may not have 18 lots of surgery under my belt. Maybe I wouldn’t have been signed off with depression, agoraphobic and stoned to the eyeballs on painkillers – that didn’t really do much, making it a constant struggle to keep working? All those questions make me even more determined that my children will not go through the same thing.
However, getting a diagnosis for your children is hard – when the main specialist unit is at Great Ormond Street. GOSH is a tertiary care provider – ie where you go when your local hospital can’t provide what you need – thus making sure it remains the centre of excellence that it is. You have to be in genuine need to go there and it takes time – mainly because they are looking after all the other children who need their time, skills and expertise. In our case EDS is not a life threatening condition – life changing maybe but not life threatening – but we were seen by the most amazing multi-disciplinary team and the Cheetah Keeper’s sister has received the most amazing treatment and follow up care.
The main problem though, is that it doesn’t show and it doesn’t have a box associated with it to be ticked or crossed. EDS is hard to explain – it is often grouped into the lazy/uncoordinated/disruptive child box. In our case, her speech was slurred because the muscles in her face were too lax and her tongue was so weak it couldn’t get around the sounds to make words. Her fine motor skills are poor because the messages sent from her brain to her fingers go ‘fuzzy’ before they get to where they need to be and the muscles are too weak to cope.
EDS doesn’t have a box in the Speech & Language Therapy list of things they can treat list though. EDS is something new in school – it doesn’t come under their list of things that they have dealt with before or have been trained in. It’s different – even from one sibling to the next it changes. It presents differently in boys and girls and from family to family so there’s no cast iron diagnosis technique (it’s evidence based) and no clear guidelines to follow.
When you have a child, for example, with asthma, excema or a food allergy, you have, at your disposal, a host of medication, specialist medical professionals and information. There are protocols that are followed and as much as any episode with a sick child is horrible for a parent, there is a ‘plan’ that will, to all intents and purposes, get you out of that situation.
For children with EDS and a whole host of other conditions, that ‘plan’ is not there. It’s created by a team, the centre of which is not the consultant but, as far as I can work it out, the parent – me. It is me that transfers the information from one health professional to another, me that researches late into the night to be able to present information to the health professionals in a way they understand, me that is trying to think of fun ways to incorporate the physiotherapy into everyday life and the occupational therapy requirements into a format that school can use without making them feel ‘different’. That’s without managing my own condition too.
With the Cheetah Keeper, I knew, in a way, what I was looking for and when he walked late I suspected (dreaded) that there was some link to the EDS. It also explains his reflux and why, when his system is under stress the contents of his stomach return at speed (resulting in a night in hospital with ‘just’ chicken pox and other such joys). It doesn’t however, explain his blood problem. I’ve produced a nigh on statistically impossible child who needs special medication and generally keeping an eye on.
Again though, a ‘platelet function defect’ explains what’s wrong but it doesn’t have a proper ‘name’. If I wrote ‘haemophilia’ here you could ping over to Wikipedia and it would explain exactly what it is. The Cheetah Keeper doesn’t have that – and platelet function defects are not that high on the list of things that your terribly busy GP covers on a daily basis. So it’s a case of educating the health professionals as you go along – and staying up way too late finding out whether the oh so elusive medicine is on the Autumn 2011 formulary for pharmacies (it’s not).
Thankfully we’re under the care of a fantastic team at GOSH. When he goes in for his next surgery after Christmas there will be a ‘plan’ created by his Clinical Nurse Specialist from the Haemophilia Unit and the ENT consultant who specialises in children who bleed. They’ll have platelets ready for him (and possibly they’ll transfuse them first) and the pain control team will have been briefed as he won’t be able to have anti-inflammatory drugs post-op (or ever for that matter). That’s the NHS at their best – and for that I am so grateful. The play specialists will be there too, and those from Radio Lollipop, and those from the GOSH Charity – all trying to make the experience as positive as possible.
GOSH is a strange place. It is not a place that you would ever wish to attend but it is a place that you’re very glad you go to. It is a place of amazing positivity but one of acute despair. It messes with your emotions – you’re so relieved when you come to leave but feel incredibly guilty leaving others behind; you marvel at the other children there and feel terribly inadequate as you sob in a corner, knowing that others are going through things that are far worse than you. It’s your child that you cradle in your arms (and I’ve been there with both of mine) and that is the most heart-wrenching, stomach churning thing ever – and then you realise that the child in the next bay has no one coming to cuddle them.
So, please forgive me when I say that I’m not overly looking forward to Christmas. As much as the time together, decorations, baking and gifting will be anticipated and shared with joy, it means that our next visit to the hospital will be rapidly approaching. The Cheetah Keeper had surgery (at a different hospital) in the first week of January this year and Christmas was a countdown to that. Not that I really told anyone else, but it was. It’ll be the same this year.
I know that the operation should mean an improvement for everybody but it’s still not a nice prospect to face. His EDS meant that his last “just an overnight stay” op resulted in a week long stay – this one, in theory is “just a day case”.
It’s a tricky old beast is EDS – just because it’s a name you haven’t heard of and doesn’t have a box to tick doesn’t mean that it’s insignificant, imaginary or something to be dismissed. Those with it don’t have a choice – we can’t make it go away. It is in our DNA and it will do to us what it will. We can do our best to manage it but, at times it will affect both our mental and physical health.
In the meantime, I’ll be doing my utmost to make sure that the Cheetah Keeper and his sister have the best Christmas ever and that hopefully, one day, they won’t feel the need to write posts like this.
To read a bit more about living with a condition without a name have a look at the lovely Just Bring the Chocolate writing about The UnDiagnosis
If you would like to give someone the most amazing Christmas gift ever and you’re able to, please Give Blood – there are thousands of recipients and their families as grateful as we are x