Yesterday I was told the results of the DNA test.
Rather than a spelling test on the gene that is responsible for making that enzyme, in Pudding’s case the whole gene is missing. So progressive brain involvement is inevitable.
The drive home was surprisingly beautiful. Sunlight escaping through dark clouds highlighted a bridge in the distance. Cows walked home across a grassy hillside.
Life continues. However unfair that seems.
We get to the multi-storey and park up at about 10am. (The first couple of months I set off really early to arrive at 8am in the hope that the traffic would be better. But with the mornings getting darker I’ve tried a later time and found the wall-to-wall lorries on the M62 to be not quite as bad.)
Pudding in his buggy, we walk to the Children’s Hospital entrance and say hello to the fish on the way in. Pudding knows where we have to press the button for the lifts and again for entry to the ward. Once we’re through those doors the lady on reception waves us through – she recognises us by now.
We head towards the short stay side where the Willink team do the infusions. I let Pudding out the buggy here and he runs to find which bay we are in that day and gives the nurses a big hug each.
Most important job of the day is to choose which DVD he wants to watch first; this time it’s Jungle Book 2. Once that is on, the nurses do a set of observations (obs): temperature from his ear, oxygen levels (a sticky probe attached to his finger) and blood pressure. He’s never liked the last two being done, but accepts them now unless he’s feeling very grumpy.
Next are the pre-medications – Calpol (because he really doesn’t like the taste of the hospital paracetamol) and an anti-histamine – which reduce the chances of him having a reaction to the infusion. It’s a two person job, as otherwise at least one of us will end up being covered in sticky medicine as he bats it away from his mouth.
Then comes the bit he really hates. At home we’ve put Emla cream on the portacath site to numb it; now that has to come off and the gripper needle is put in. I sit on the bed and wrap my arms and legs around him and hold him close, one of the nurses holds any limbs that I’ve missed, and the other works quickly to wash the site and get the needle in. Pudding has always objected to being ‘messed with’ – dressing and undressing can be a bit of a challenge as well as nappy changes – and I hate having to pin him down like this, but accessing the port would be impossible any other way. It is getting easier though as he gets more used to the process and he doesn’t seem to hold it against us once we’re done!
The line attached to the needle is then checked to make sure it’s drawing properly, and if a blood sample is needed that week it can be taken. Then Pudding is released for a bit while the nurses prepare the infusion; two vials of replacement enzyme in a bag of saline. He runs down the corridor to the play room which has got loads of toys and crafts available for children and siblings on the ward. He plays with Peppa Pig for a bit then sits down and colours in a picture before dashing back to show it to the nurses – ‘Ook!’ (Look!) ‘Ta-da!’
Soon it’s time to get him back on the bed. His line is connected to another which runs from the saline bag through a pump. It is started at a slow rate and gradually increased so that the body isn’t flooded with too much all at once. Pudding settles in to watch his film and ask for food every five minutes. I resist as much as possible before giving in. It’s not fun being stuck on a bed for three and a half hours, so we need to keep him happy. Some older children do walk around with their pump, but I’m not sure any of us could face racing down the corridor and stopping him from yanking the line out!
Niamh chivvies me away to get my own lunch and I sit in the Costa downstairs having a panini and reading the paper, very grateful for their wonderful care of us. By the time I get back, Pudding is having his own lunch. Egg sandwich as usual. He can say ‘egg’ really clearly now, and sometimes does the sign too. Flushed Away is on now, and he smiles when he sees the singing slugs.
Obs are still done at regular intervals – he often seems to get a slightly raised temperature towards the end. The infusion finishes at 2.10 but we have to stay until they’re sure that he isn’t reacting badly. Pudding loves this bit – he helps push the pump back to its place and fetches the basin for washing the beds.
His temperature is still higher than it should be, so he gets another dose of Calpol, and we wait some more. By 3.10 it’s back to normal and the gripper needle can come out – only two people needed for that.
No other appointments so we can pack up our stuff and wave goodbye. Until the next week.
Yesterday we went for a walk in the woods. Just Pudding and me.
Ten minutes after we arrived we were still by the gates with me holding them shut to keep him safe. He was waving at cars going past, climbing on the bars and trying to pick nettles. I could feel that familiar impatience, the can-we-just-get-going-now-please-I’ve-got-other-things-to-do part of me that takes over far too often. And then, something happened.
I remembered the reason I was there. In the house, Pudding had said ‘di’ (meaning outside) and then ‘car’, pointing to where we keep the keys. He then got his boots and made a really good effort at putting them on, so I had agreed.
We weren’t at the woods because I thought it was something we should be doing. It was because he’d asked to go somewhere (not quite sure where – his language skills aren’t that good yet!). At that moment I realised, with guilt, that too often I want him to fit into my world: I get frustrated by his constant demands for food or tv; I get bored with the mundane tasks; and overwhelmed by the many appointments and arrangements that need to be coordinated. Sometimes I need to let that go, and embrace Pudding pace.
So, we said hello to other walkers. We picked up sticks and hit trees with them. We threw leaves in the pond. We did silly walks and ran into imaginary walls. We laughed. We walked a really short distance.
We still got to the inevitable point where he fell over and wanted to be carried for a bit. But the moments that we had already shared made it easier to stop Impatient Mummy taking over.
Pudding pace will be deployed more often. Just remind me of that every so often please. I’m far from perfect and will forget otherwise….
The other day when on the way to yet another appointment, I got to thinking about all the individuals we’ve come into contact with since the start of this. How many people have we met? More than 10? More than 20? So I started making a list…
The team from Manchester Willink Biochemical Genetics Unit – Consultant, specialist nurse, ERT nurses.Not counting others who I have spoken to on the phone but not yet met.
So by my reckoning that comes out at 36 people in the last 10 months – most of whom have been utterly charmed by my dear boy’s cheeky grin and funny ways.
I have been so grateful for the care and support we have been offered by the NHS and other organisations. Sure, I know there have been occasional hiccups and frustrations with the ‘system’, but almost everyone we have come into contact with has done their best for us; whether that is in little ways like asking how we’re doing, or by staying far longer than their contracted hours when I needed help. Bless every one of them, and long live the NHS!
A while ago, the MPS Society put me in touch with another Hunters mum and we’ve talked on the phone a couple of times. Today, we met her and her lovely son for the first time. It is difficult to describe what this meant to us.
He is a young man now, spending time at college and learning to be independent (travelling there on the train by himself), keeping in touch with his friends and enjoying hobbies such as watching sport. To see him and believe that there are still possibilities for Pudding, is wonderful and uplifting and fills me with hope.
When I first starting reading about MPS, of course I focused on the worst possible outcomes, looked at the statistics, started calculating the odds. And it’s true, the numbers aren’t great. But today, in front of me, I saw a real-live example of life after diagnosis. And I loved it.
Time passes. The worst passes. Reading back some of these earlier entries, I am taken by surprise at the raw emotion – a sign that things are so much better now. Yes, I had an attack of the wobbles last week, and I can’t imagine ever truly accepting with equanimity what we are facing, but I have come to a calmer place. We are still waiting for the results of the DNA test which might tell us what prognosis to expect. But they may never be able to find that rogue gene. Until that time this is becoming our new normal.
This week we went to Manchester on Monday instead, as we had an appointment for his ECG. I had thought previously that having a portacath would make things less stressful but Pudding has other ideas about that. He has never liked being dressed/undressed, nappy changes or generally being messed with. Accessing the port to stick the gripper needle in or take it out, therefore requires three of us to hold him down. I feel so sorry that we have to do this to him. He doesn’t understand why he’s there, or what a difference these infusions will make to his life. All he wants is to get up off that bed and go play. I’d love to let him.
As they’d changed the pre-meds this week and didn’t give him Piriton, he also wasn’t as drowsy, so didn’t have his nap on the busy ward. Uh-oh! Didn’t bode well for ECG! Too right… Jane mananged to distract him with pictures on her phone for that bit, but we had to pin him down for the ultrasound. Good news though; although the heart muscle was thickened, this hasn’t yet affected function.
Getting the Manchester trip over with early in the week has meant that it now feels like we’re having a holiday from it. Had a lovely day on Wednesday catching up with some good friends. And yesterday, I was able to drop Pudding at preschool to be looked after by the lovely ladies there. Walking home in the sunshine with no buggy to push, I felt lighter than air. I love my sweet, simple boy so much, but a few precious hours to do writing, or tidy the house makes all the difference.
And one really good piece of news from this week – as of November we should be able to have the ERT done at home. Hoorah!
Whenever I think I’ve got this situation sorted and am dealing with it well, the sucker punch comes. I was so looking forward to this week – kids back at school, meaning the holy grail of child-free time again, and a nice straightforward ERT with no other appointments booked in. So of course it all went tits up.
Tuesday morning it was just me and Pudding in the house. I think he really missed having the others around and was incredibly grumpy. I gave up at 10.30 and put the TV on. His mood does make such a difference – on his happier days he is a little joy and we can get him over the little humps of demanding food, etc with a bit of distraction. We enjoy being silly or him climbing on me, can try a jigsaw, look at a book and so on. Still hard work, with the need for constant attention, but do-able. On the grumpy days, it is an uphill battle. There are only so many times that I can put on my enthusiastic face and say ‘Hey, sweetie! Look a bird!’
In the afternoon we had our assessment/information visit from the lady who sorts out respite. It was probably a good time for her to come, as I ended up crying and Pudding demonstrated plenty of bad behaviour – hitting me, crying and demanding food endlessly. She certainly got a clear picture of what life is like with him, so much better than his usual sociable side in company.
Wednesday, the ERT went pretty much to plan. We were finished at 12.25 so free to leave just before 1pm. Hoorah! Then 5 minutes after pulling out the carpark, while we were on a single lane, one-way diversion somewhere in Manchester, Pudding opens his eyes and throws up everywhere. After inching past a traffic light, I managed to pull up on some double yellows, and clean him up. Then had to make the inevitable phone call to let them know, and ask if we should come back. Of course when we made it back (I HATE Manchester roads) he proceeded to push a trolley around the ward, laughing and chatting up all the nurses. Nowt wrong with him! They’ll up the pre-meds next week though, just to be safe. The upshot was that we didn’t actually leave until 3pm.
That night, I got to bed, and the whole horrible world of Hunters kept revolving round my head. A toddler being sick is such a small thing in the ‘normal’ world. Yet with us now it has so many more implications. A few hours longer in Manchester that day, but probably more scrutiny in the future – the latest waiting game – will he end up with infusion reactions or not.
I haven’t actually cried much lately but it all welled up and I was soon sobbing loud enough for Hubby to hear me from downstairs. He did his best and was asking what he could do to make things better. The only obvious answer to that one is to stop Pudding having Hunters. Big ask, there!
The next day actually went much better, despite not being able to send him to preschool – he was in such a happy mood, singing and doing his little ‘Night Garden’ dance. And sunshine, sunshine was a big help.
So got through the wobbles again. And I know it will just be one of many. And of course, there are always the lighter moments. The moment when I switch the washing machine on for a maintenance wash to find that there are two spoons clunking around in it. The moment when Pudding wears the freshly washed car seat cover as a hat, peering out through the holes with his cheeky smile. The moments when he grabs Twiglet for a cuddle and they both end up on the floor in giggles. Those precious moments when all the worries and angst disappear and we enjoy the present.
Every so often, just for a moment, I have the sudden crazy belief that perhaps this is all a mistake. Somebody somewhere is going to realise that there’s been a mix-up at the labs and Pudding hasn’t really got Hunters. But I know, of course, that that’s never going to happen…
Well, that I was a full-on few days…
Setting off at 5.30am on Tuesday was easier than I thought seeing as I’d already woken up an hour before. Dark though, and it was tipping it down with rain so visibility was not great. Once we hit the M1 there was a traffic jam and right after we ended up driving on a newly-tarmacked surface – the heat was turning rain to steam and for a while I couldn’t see a thing. Scary! The rest of the journey was slightly better apart from a scare when someone slammed their breaks on just in front of me. And we did get to the hospital bang on 7.30.
Withholding food and drink from Pudding actually went better than expected – he only asked a couple of times before theatre (9.30) and was otherwise pretty well distracted by TV and playing on the tablet. I lost count of the number of people coming round to see us though – trainee anaesthetist, ENT registrar, portacath surgeon, consultant anaesthetist, theatre nurse, ward nurse – even Niamh and Claire came by to say hello (and got a lovely cuddle from Pudding).
Hubby took him in for the anaesthetic and came back in tears. He said it just happens so quickly – Pudding was knocked out and whisked away. We went for a (rank) breakfast in the hospital restaurant and then sat down to wait for the 2 hours expected. That went by. Then another quarter hour. Then another. And another. The ward nurse said ‘The waiting is the worst bit!’ and I agreed. But it wasn’t – that came later.
When they came and said ‘They’re ready for someone in recovery’ I leapt up. He was lying on a trolley, still with his eyes closed, being monitored. My throat closed and the tears welled up. His mouth opened in a cry as his eyes screwed up tight. I tried to reassure him but could hardly get any words out. I never want to see my child like that again, but I know I will. We were wheeled down to the High Dependency Unit, where he had to stay for the night, as a precaution.
Pudding was sounding so miserable and I climbed onto the bed to try and comfort him, but it didn’t really help. Even the TV only helped a bit. He had a bit of cordial and a mouthful of toast but wasn’t really keen and no wonder – a while later he was sick and that carried on for a while. It wasn’t too frequent, but he certainly wasn’t keeping anything down. He slept a bit, ate a bit, drank a bit, ate a bit, watched TV and whinged for the rest of the afternoon. He got some more anti-sickness meds around 6pm and after that wasn’t sick any more thankfully. Through the night, he woke up a few times while I was upstairs in parent accommodation failing to sleep myself, but the nurse coped ok with him. He obviously wasn’t in the mood for his usual night-time partying!
The next morning we were still on HDU and Pudding was eating well, but fairly compliant still. The paracetamol and ibruprofen were obviously still keeping the pain levels under control. We had his ERT done by Niamh while we were still there – using the port for the first time. He did seem to get a bit of a temperature for the second week running – hopefully not the start of an infusion reaction as that would mean they would have to be slowed down. We were done by 12.30 but didn’t actually manage to leave until after 3.30 due to various admin problems. Very frustrating. It was fantastic getting in the car knowing that we were heading home, though the high-pitched ‘Bnng, bnng, bnng’ of the monitoring equipment in HDU followed me much of the way.
Highlights were Hubby and Niamh pushing me out the door to go get meals at various times, including going outside to eat real food from M&S sitting in the sunshine. Felt wonderful.
Feelings I was left with: gratefulness that Danny was obviously not nearly as ill as some others on the ward, but despair that this will not be the last time we’re in a similar situation, and things may get worse.
By a coincidence, Niece happened to see a programme last night which apparently had a Hunters boy in it who died. This was the first she knew of the potential shortened life span and it obviously upset her, so Sister had to have a difficult talk with her, saying that yes, it might happen but we just don’t know at the moment. Not nice. Twiglet still has no idea of that, and I’m not sure when we would address that, even if we do find out.
Last night when we got back Pudding was playing football outside, so happy to be released. I said that he had been stuck on a bed for the last two days and Twiglet replied, ‘Having Hunters is horrible.’ Yes, love, it sure is…
Another Manchester day, but this time, it’s Pudding’s operation so we’re setting off even earlier today. Which of course means, I’m awake way before the alarm.
I’m nervous about today, but not so much about the op itself. He’s having the portacath put in, grommets in his ears, and tonsils and adenoids mostly removed to increase space in his airways. I know they are all fairly standard procedures, and although the airways can be awkward in MPS he’s having it done in the best place. (OK, I know I won’t be so calm while he’s actually under). But what I’m definitely not looking forward to is not being able to feed him beforehand.
I’m trying to remember a conversation we had with Twiglet last night while getting ready for their bath. He said something about the future, implying a time when his brother is better. Hubby explained that Pudding will always have Hunters.
‘What? He’ll always have Hunters?’ replied Twiglet.
‘Yes’
‘For ever?’
‘Yes.’
‘Until he’s dead?’
‘Yes’
‘Yayyyyyy!’
‘Why’s that?’
‘Because then he’ll always be cute!’
I guess, Twiglet has a slightly different perspective on this condition than we do. But hey, it’s still a valid one! Of course, when he’s just been whacked with a spoon or toy car he doesn’t always feel the same.
Other positives from the last week – we’ve got the DLA now (higher rate care because there are night time issues too, but not mobility) only a couple of weeks after applying – this will really help with all the petrol, hospital parking, etc. And Pudding surprised and impressed me by sorting 16 counters into red and yellow. Twice!
A Hunter's Life 