I am *that* Mum…..*

Tomorrow is one of those school days that strikes fear in my heart every time it rolls round…and I’m sure it seems to be more often than once a year: World Book Day!

Don’t get me wrong, we LOVE books and reading in this household and the little 2 still love a bedtime story of an evening but, and it’s a very big BUT:  I hate, hate, hate the palaver of agreeing a costume with fussy off spring, (think negotiations that would have the UN weeping, weeping I tell you into their FairTrade, organic, earth friendly, GM free, soy free, dairy free, skinny, decaf foamed top latte)  sorting out said costume without spending a small fortune, or worst still having to make something Blue Peter style, all with the aid of some sticky backed plastic, a wire coat hanger and an old cocoa tin…and naturally finding of course that when the day itself strikes, obstreperous child has decided they no longer want to wear whatever it was that we eventually agreed on.

Minx has STILL not forgiven me for sending her in dressed as her favourite character when I mis-read the school news letter 18 months ago. Dressed as Hello Kitty, face painted to the nines (I was quite proud actually), I was just relieved to get her out the door, vaguely on time. Turns out she was supposed to be her favourite Roald Dahl character….she mutters mutinously about this on a regular basis; I fully expect to wake up one day and find a horses head or similar in my bed such is her displeasure and looooong memory; the mafia would be proud..and in my defence, I wasn’t the only parent who got it wrong – there was many an Elsa, Anna,  Jedi, Ninja etc.

I always have the best intentions. It’s not as if I haven’t known that World Book Day (WBD as it shall be known from here on – is it more than just co-incidence that WMD – weapons of mass destruction share similar initials?!) was rearing it’s ugly head. The supermarkets are full of natty dressing up costumes, my e-mail in-box is crammed with would be Amazon/Argos et al suggestions and Mumsnet is positively brimming with wholesomely good ideas of things I can make in my “spare” time. I can’t help thinking that’s for those smugly talented ex art school mums who can make a haute couture gown out of an old bed sheet rather than some fingers and thumbs wanna be who likes to get a bit trigger happy with a glue gun and some sequins when the children aren’t looking – can’t possibly get that stuff out in front of them, just imagine the mess. Shudders.

Then there are the even more earth-motherly brigade who will proudly post in a flourish  of FB collage pics the offering they have created lovingly TOGETHER with their offspring. A step-by step guide to how they put together The Very Hungry Caterpillar costume that instantly transforms not just from the caterpillar to pupae stage but onwards to full butterfly glory complete with working proboscis at the mere flick of a press stud and then self deridingly say “Oh well I let DD/DS (darling daughter/son for those not in the “know”) do ALL their own work really, I just helped with the dangerous bits…..sheesh….

So as I mentioned, it’s the day before WBD and number 3 son, whose in an almighty cob-on with me anyway hasn’t agreed the costume. We had agreed Harry Potter (easy enough) then Horrid Henry (now too baby-ish apparently) and finally Jack from David Walliam’s  Grandpa’s Great Escape. In theory, I should grab that character with open arms -jeans and a t-shirt, it’s a no brainer. But in reality, I will look like one of *those* mum’s that has forgotten or worse still, can’t be bothered to make any effort.

My tearful pleadings (slight over-exaggeration, more vague grumbles) that perhaps he could go as Grandpa himself complete with blazer, face painted moustache and war medals have fallen on deaf ears. So here I sit procrastinating, wondering if I can make a paper-mache SpitFire that could somehow attach to G Man’s body via elastic or similar so he at least looks as if I have vaguely tried?! Will it dry in time, where IS that glue gun…..Even the netters costume guide of The BFG looks easier than a fully scaled Spitfire but he won’t be persuaded. Sigh.

Minx on the other hand is going as Ariel from the Little Mermaid. She is merely demanding hair dye of the orange hue and an intricately woven plait that will need at least  a You-Tube demonstration and preferably a quick crash course with Charles Worthington to produce. Since we luckily have a mermaid costume to hand (doesn’t everyone?!) and even one that fits her Build-A-Bear she is relatively easy to please. Of course trying to persuade her that she will NEED (have) to wear leggings and a long sleeve top under said costume, since it’s March and snowing, is proving more of a challenge….I can’t possibly be *that* Mum that sends her child in inappropriate school wear again can I?!

Well if you don’t hear from me for a while via FB/blogging, I have either had an incident with a rogue stapler, poster paint and empty washing up bottle or my children have once again disowned me and actually done away with me for good since I am just too embarrassing for words……   🙂IMG_0047IMG_5248

 

 

 

 

D-Day….Red shoes Part 2…

image.jpegYesterday was D-Day – The Day I spoke at the Rare Diseases UK AGM in front of various learned bods and alliances of support groups etc.

I have had so many wonderful messages, e-mails and texts asking how it went and am truly overwhelmed by the support; it means a lot. Since everyone was still awake by the end of my speech and no one threw anything at me (mind you as my dear Father pointed out, have you seen the price of fruit these days?!) I am counting this one as a win.

Yes, it was nerve wracking and I had sweaty palms (bet you are glad I shared that aren’t you?!) but the main feeling  I came away with was empowerment. So often as a parent we are at the whim of the medical teams and therapists; so often we wait passively for tests, results, follow up consultations and such like that the lack of having control, feeling disempowered, becomes our norm. More disconcertingly, you don’t even realise that’s what you have become used to, until something –  in my case the opportunity to take part in the discussions at the AGM –  makes you feel alive again. I can only describe it as akin to feeling numb to everything most of the time – maybe because we parents have so much invested in our children and the lack of diagnosis over time saps your energy; we become a faded, more jaded and insipid part of ourselves? I can’t say.

What I do know is that having people listen to our experiences as a family, acknowledge the battles we fight and most importantly recognising that things need to change for all families and patients involved with complex care needs was so very important. Not just for me but for the wider community as a whole.

It was most interesting to hear from Larissa Kerecuk, the Rare Disease lead from Birmingham Children’s Hospital and the plans that have been put in place to improve services, including a whole new building block being dedicated to paediatrics department specialising in rare diseases. Inspiring and definitely the way forward! Whilst I certainly wouldn’t wish a rare disease on any one, particularly a child, patients and families utilising their facilities when the project eventually comes to fruition can be assured that they will be treated in a fantastic facility, thought through in minute detail and concern. This can only be a good thing and I will follow their plans with great interest.

To listen to Jo Goode’s experience of having a very rare condition (dermatomyositis) and the battles she has faced (and still faces) over the years to get her diagnosis, even now to access appropriate treatments was both insightful and familiar in spite of the differences in her needs and those of our daughter. In fact, there was much nodding of heads all round the  room from those who have obviously fought similar battles and could relate in ways that only a patient or carer can.

Although I thought when I first stepped up to the podium that I might regurgitate my spinach and egg muffin over the first few rows,  I came away uplifted and empowered (& probably not just because I’d had a night in a sumptuous hotel room away from a beeping feed pump and the clamouring of my children, although I am sure that helped!)  I really felt that I had contributed something useful and that those involved were striving for the best possible outcome for all affected by rare diseases in one way or another.

Whilst it was lovely to get home and see the family,  the irony of returning to my small folk who completely ignore everything I do, say and suggest after such lofty heights of the morning was not lost on me.

So, would I do it again? Hell yes! Watch out SWAN UK and Rare Diseases UK, you may have just created a monster!!

 

 

 

The Good, The Bad….& the ugly….

I threw my toys out the pram a few weeks ago….figueratively you understand although I must admit I did feel like throwing things literally as well…..sadly, I am (allegedly) a grown up and this sort of behaviour is frowned upon…unless you are at a Greek wedding, or so I’m told.

What was the reason for my strop? Multiple appointments from different specialities at Great Ormond Street (GOSH) on different days and different weeks. Dramatic moi?

Well maybe, but over a 6 week period, GOSH had managed to send me 6 separate appointments necessitating 6 individual trips and at cost of + or minus £100 a pop, not to mention the disruption to schooling and trying to sort out childcare and cover for our other children as well, I reached the point of giving up any pretence that it was doable. I am not superwoman and much as admitting defeat is not in my vocabulary, something had to give.

The irony of having set up 3 appointments in the same week 6 months previously so that we could avoid multiple trips was not lost on me. None the less, only one of those appointments had been left as originally planned and everything else juggled about plus some others added in for good measure.

Now don’t get me wrong. I do not expect the NHS to kow-tow to me and my every whim but it would be nice if the individual teams concerned AT THE SAME HOSPITAL liaised with one another (especially as ALL the Minx’s issues are interconnected) and a bit of forethought and planning went in to the mix so that we could see people in one specific time frame, over several days in the same week –  which was the point of the original plan.

In fact I think this perfectly illustrates why an undiagnosed children’s nurse is so very necessary. Did you know that GOSH will be the first hospital in the UK to employ someone in this role and it is believed to be the first such position in the world?  The idea behind this is that there will be a dedicated specialist nurse who will help families and children like mine and act as point of liaison between services to oversee all aspects  of care.  Interviews for this noteworthy and ground breaking role have started but there won’t be a dedicated person until 2016.

Nonetheless, it will be very welcome when that person does seize the rains and if all goes to plan, I believe it is the intention to have 50 such roles throughout major hospitals in the UK. Yey;  parents such as myself will be breathing large sighs of relief all round! (Note if you know someone who would be perfect for this role, and really we are talking Mary Poppins on steroids to fill such an important position, have a google at the        Roald Dahl Charity      info for more details, position is still open  as date of writing )

Anyway, my good humour having been throughly displaced, I fired off polite but firm e-mails outlining why 6 separate trips were not possible and asking what should/could be re-arranged.

One of the appointments in particular had me scratching my head (& no it wasn’t nits!) We had received an MRI but it didn’t say what for and just told me I needed to allow an hour and a half for the scan. I assumed it was to look at the Minx’s spine in more detail since the scopes of her stomach and bowel plus a procedure called manometry that had been done back in October 2015, had indicated a potential spinal anomaly.

Having phoned the department to check if this was the case, I was informed “computer says no;” it was to scan her fore-arms….this perplexed me quite a bit and a sneaky gut feeling had me wondering if someone had (inserting technical term) “ballsed up.”

Not wishing to waste my time and money but more specifically the NHS’s too, since scans like MRI’s can cost hundreds and hundreds of pounds, not to mention that a more needy child could miss a valuable slot, I attempted to pin down someone, anyone in fact from the various teams involved.

I think there was probably more success in looking for Shergar than getting anyone on board with this. No one wanted to accept responsibility, ‘fess up that they had booked the scan for what, if any particular purpose or stick their head above the parapet as to just how necessary or otherwise the scan might be. Each different department seemed to suggest that someone else could help.

Whilst it has often been mentioned in the past that a scan of the Minx’s arms needs doing at some point, (because of her upper limb arthrogryposis) there has been no urgency and it was suggested as one of those at some unknown dates in the future to coincide with other things scenarios rather than a specific request, especially as it won’t change the management aspect of this part of her care.

Such a scan didn’t seem helpful in the context of possible spinal issues bearing in mind that she has also had other upper skeletal scans, the last being May 2015 and it made even less sense  when I received yet another appointment for the spinal MRI – naturally of course they couldn’t schedule the 2 at the same time….Sigh….

So fast forward through a bit of passive/aggressive key board warrior-ing on my part with GOSH, I eventually got a phone call from the neuromuscular department that went something like this:

“Hello, are you Minx’s mother?”….yes….”well the thing is the forearms scan could be useful but then again maybe not so ultimately, you need to decide whether or not your daughter should go ahead and have it…..”

It’s not often that I’m lost for words but I did open and close my mouth like a guppy for a few seconds whilst collecting my thoughts, much to the amusement of my taxi driver.  As it happened I was actually on my way to GOSH for one of the other myriad meetings at this point.

Eventually, I did manage to reply “Well, I’m so glad I went to medical school for all those years and am now sufficiently qualified to make that decision…oh no, wait a minute that wasn’t me, that was YOU and YOUR Colleagues…!!” Que embarrassed silence.

On the basis that we have managed so many years to date without the scan of her forearms and reasonably assured that since Minx’s most problematic issues relate to gut/bowel function I declined the scan. However, although apparently from a neuromuscular standpoint, as a parent I have enough qualifications to decide on the medical necessity of the scans validity, according to the  MRI department, this was not the case.

Having phoned to ask them to cancel the scan (curiously enough not trusting that the message would be passed on despite promises to the contrary) I was asked when I wanted to reschedule for. Shocked silence followed when I declined and explained why – maybe they were making guppy faces like I had? I was then told I was not allowed to make that decision and they would have to refer back to whoever had arranged the scan originally and get back to me. Good luck  with that I chortled and funnily enough I have not heard from them again….

So fast forwarding through various appointments, despite my best efforts, to combine where possible and some co-operation from a few departments, it has still been necessary to undertake 4 trips in as many weeks.

Cutting out the boring bits, we were relieved to learn that spinal MRI was clear and normal. Whilst this is essentially good news, it does not give us any clearer answers as to what is going on and why the Minx is struggling so much sensation-wise  with both bladder and bowel issues.

One of the other tests showed that her colon was absolutely jam packed (and I am afraid there is no delicate way to put this) with poop and she has very slow transit -essentially the time it takes for the stomach and bowel to move food along and expel it. It probably does go at least some way to explaining some of her pain issues. We do know that both the function of the nerves and muscles throughout the gut/bowel are ineffectual at best and at times, cease to work in entirety.

Having discussed matters in detail with both the Surgeon and Gastroenterology, various plans are afoot to help her with this but unfortunately we have already worked our way through Plans A & B and plan C, a surgical option, is looking ever more likely next year. More about that another time.

One piece of very good news that we had is that GOSH asked us to participate in the 100,000 genome project. This is fabulous news and something that we have been hoping for for quite some time.

Essentially, this is the largest genetic study currently accessible in the United Kingdom and will provide a date base for the NHS to help families like ours, both now and in the future. It may give us the best opportunity to obtain a unifying diagnosis for all the Minx’s (& for that matter, our youngest son’s ) difficulties. Potentially, it will allow for better management of her care and give us an idea of what the future holds for her. It is both terrifying and inspiring all at the same time.

Although we have undergone some genetic testing in the past, this was far more specific to presumed conditions (all of which have come back as negative to date) and so has not been helpful in the overall clinical picture.

Myself, hubby and the Minx have now had our bloods drawn for the study and signed the consent forms so it’s quite strange to think that somewhere right now,  boffins are cross referencing  our medical history and looking in detail at the Minx’s specific issues to decide how initial testing should be best commenced and that our blood samples will be whizzed across to a laboratory and analysed.

We have been told that result could take up to approximately 18 months or paradoxically that we STILL might not get answers but genetics is such a fast moving field with incredible new discoveries on a regular basis that this too could change and no answers for now, doesn’t always mean that we will never get one. So all in all, we are definitely a step closer than we were. As the saying goes, you have to be in it to win it.

Do I want to know? Are we ready? After 7 years in the dark (Minx had a birthday last week) I always thought the answer would be an unequivocal yes but I am reminded of Pandora’s box – after all, once the lid is off, it cannot be merely re-closed without consequences.

So yes, *I think* I am ready to know once and for all and once the novelty of having just been accepted on to the study wares off, I guess some sense of normality (whatever that is in this house) will resume and I will forget about it until maybe a phone call or a letter drops on the mat…. out of the blue….