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….

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

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