Wednesday, 17 September 2014

nappies and sleep

We get N's nappies on prescription, every three-ish months. When we are getting to the end of the stash, we ring up and order some more. This has never gone smoothly, mostly because she grows between orders and we therefore need to get a bigger size.

You can't get a bigger size without the nappy nurse telling them to change the order.

About a month ago I told the Compass Team that we would need a bigger size in a few weeks. The Compass Team passed the message along to the nappy nurse. I assumed our order had been changed.

This morning I rang up the order-line number to order some more.

It was dead.

I rang a number I had for the nappy nurse, which turned out to be adult continence, not paediatric. I was given the paediatric number.

I rang the paediatric nappy nurse number.

The paediatric nappy nurse said that she had told the Compass Team that they needed to speak to the school nurses to get a reassessment done.

At that point, one of the Compass Team was actually here in my living room, and she said she'd not been told that when she contacted the nappy nurse.

The paediatric nappy nurse gave me the number for the school nurses, who are in the office next door to her with a one digit difference phone number. Apparently I am not really supposed to phone them myself and it's not her job, the Compass Team should have done it.

She also gave me the number of the new provider of paediatric continence products, because they have swapped over and the letters have not all gone out yet - that was why the phone number was dead. I should have got a letter when we were due to reorder.

She told me that I should ring them and trigger an order of too small nappies so that I had some anyway and the sizing was slightly different on the different brand 'so they may be okay' and then arrange for a school nurse to visit N and check the sizing.

I can check the bloody sizing, it's not rocket science to see that my child has grown and needs a Size Five pull-up for children of fifteen kilos instead of a Size Four for smaller children.

This is stilted and grumpy and just a moan really; everything seems such a struggle at the moment. N was awake six times last night and more than that the night before. If you don't go in and resettle her when she murmurs in her sleep, she wakes up properly crying and it takes more time to get her to go back down. B is so tired that he actually fell asleep in our counselling session yesterday, which is funny only in retrospect. My back is still bad, but not as bad thanks to a Bowen session I had on Monday. The damage to the van turns out to be more than the wing mirror - the driver's side door handle and lock has come off completely although the central locking still works. It is L's birthday tomorrow and he is so excited that he's running wild.

We are going to the hospice for three nights from tomorrow and I am hoping we can catch up on our sleep.

Friday, 12 September 2014

lightness of being

Holding Daddy's hand in case he was
 a bit worried about having the blood taken
We got back from That London at eleven last night, all shattered and with another bust wing mirror that happened whilst we were parked up overnight.

I have nothing good to report, although the people we saw were very competent.

On Wednesday afternoon we spent an hour with the Physiotherapist and then another hour with the Registrar, who took a thorough case history. Then yesterday morning we spent two hours with Professor Mutoni the head of the team, the same registrar and a specialist nurse. They were thorough, competent and approachable; and they were happy with the investigations that have already been done.

Their conclusions are as follows:

1. There is a brain development issue evident from the MRI done two years ago, with a mis-shaped Cerebellar Folia. This could be caused by Mitochondrial DNA depletion and needs re-checking. This can be linked to a Co-enzyme Q10 deficiency and if that is the case there may be some mitigating treatment possible. They are going to check for this in her blood and look at the lymphocytes. This is not as reliable a test as from muscle tissue and they will also look at the remains of the frozen tissue taken in her biopsy.

2. She has a condition that resembles Centronuclear Myopathy, but does not have the condition of that name. They want to look at the rest of the biopsy to check this as well. Although Vici Syndrome itself was ruled out by specific genetic testing, there are a number of 'sister syndromes' that are linked to it. There is a group researching this at Guys and both her DNA and blood from B and me are being sent to them.

3. They want to do a single fibre muscle biopsy if they don't get anywhere with the above tests. He thinks that it may be that the nerves and muscles don't talk to each other and this would be another avenue of exploration, although this is less likely than the above two scenarios. If they find nothing in the next six to eight months then this biopsy would be an option.

A recessive condition is the most likely scenario - just bad luck and bad genes. Apart from the Q10 thing, there is no treatment for any of this and because there are so few people with the conditions known about, there is no body of statistical evidence to draw on for things like life expectancy. With the sister-syndromes to Vici Syndrome, it would depend on how damaged the gene was. However, of the fifty or so children worldwide with *actual* Vici Syndrome, none of them are older than the age of ten.

We decided coming home last night that finding out what's going on may not impact on N. But it will be helpful for L to have any information in case this is something that he can pass on to his children.

I can't find any words to express how I feel about any of this, except that I am on the verge of weeping all the time.

We are bearing it because there is no alternative; but really, this is unbearable, isn't it?

Tuesday, 9 September 2014

great ormond street

Tomorrow we go to Great Ormond Street.

We are going up in the morning, seeing the Junior Doctor and the Physio in the afternoon, staying overnight at the hospital and then seeing the Consultant on Thursday morning before coming home.

We both have very mixed feelings. GOS is the holy grail of children's hospitals; and if there is help to be found anywhere for N, it will be there. However, it is also the end of the road. If they can't help us, no-one can.

The uncertainty of it all comes up and whacks me again and again and again. I don't know how to deal with it except with rigorous compartmentalisation.

My day to day life is all about the laundry and the dishwasher and feeding children and chickens. It is talking to school, talking to the hospice, talking to the hospital. And then there is this, this dark patch in the corner of the room that is always there just out of sight, sliding away when I try and look at it directly. How long have we got? What is going to happen? How's it going to end? When's it going to end? What will we all do afterwards? Where will we live? How will L cope? What will I do?

What will I do?

Day to day, all we can do is put one foot in front of the other and deal with the issues as they come up. Return phone calls, keep appointments, do tube feeds, stretching exercises and nappy changes. But inside both B and myself, a part of us is screaming; and I have no idea how to deal with that, because it's always there and it's not going to to away until it's all over.