It’s been an odd few days. Mostly in a good way.

Most significantly, I’ve been feeling a bit more stable again. Although this pathway through the Hunters diagnosis is full of rocky places and stumbles, every so often we get to the top of a small hill and the view makes up for some of the hard bits.

Hubby came with me to Manchester on Wednesday so we could talk to the consultant together about Pudding’s future and the possibility of getting him on the trial of intrathecal enzyme. This introduces the enzyme directly to the spinal fluid in the hope of reducing deterioration of the brain and possibly even improving function. It would involve more trips to Manchester and, if he is randomised to the treatment arm of the trial rather than the control, more interventions including general anaesthetics, so it’s not a decision to be made lightly. The first phase of the trial gave very mixed results, so we can’t hope for too much at this stage. But if he’s eligible we will likely say yes. Even if it doesn’t benefit Pudding, it may benefit others in the future. And we know the inevitable outcome if we do nothing…

Next thing on the list was a visit to our nearest special school. Pudding is due to start school next September so we’ve begun to think about where is best. Special school? Mainstream? Mixture of both? Another difficult decision to think about.

Yet yesterday morning before the visit I found myself humming while sorting the washing out. I had made contact with another Hunters mum after seeing her blog online, and then happened across someone else’s too. By the afternoon I was added to a Facebook group, and had friend requests from 10 others. It meant reading some pretty difficult posts about boys further on in their disease progression, but somehow that mattered less than suddenly being part of this community who knew exactly what I was going through too.

Then this morning the first thing I saw online was a comment from a complete stranger on my fundraising page. She had seen our story in the local press and wanted to make a donation. That fills me with hope for the future of our boys.

And perhaps best of all, Pudding is doing really well with his language at the moment – playgroup report that he is echoing more words and using some new ones spontaneously. He has even said a verb (‘pull’ to ask for help with his banana, and when singing ‘Wind the bobbin up’) and a personal pronoun (‘me’ pointing to himself when we ask where he is). Huge milestones!

I know I’ll probably be hit by another body-blow soon, but it is becoming easier to deal with them. We will get through this.

Of course it’s a horrible cliche that love conquers all. I’m not sure I’d agree with that, but I certainly know that love has done so much for me in the last few months, and particularly this week.

Love comes in Makaton lessons that help a grandmother communicate with her youngest grandchild.

Love comes in a bunch of yellow roses, as beautiful and sunny as Pudding himself.

Love comes in an acre of chocolates sent to save this committed vegetarian from a bacon sandwich.

Love comes from another mother on the playground who held my hand while I struggled not to cry in front of the children.

Love comes in a list of DIY jobs done by a friend despite running a marathon the day before.

Love comes from friends who share my fundraising page with others, and their friends who donate despite never having met me.

Love comes from my dear husband who, despite being shell-shocked himself, can make the world seem simpler and better with just a few sentences.

Love comes from a big brother who wants Pudding to go to his school so he can still see him during the day.

And love comes in a little boy who takes such joy in dancing and singing round the living room trailing a streamer of loo paper he has just filched from the bathroom. A boy who can make us smile and laugh even now.

I feel like over the last two days on an emotional level I’m right back where I was in June and July. Tears are never far away, and it is difficult to carry on with the everyday things such as getting dinner ready, doing the shopping or washing up.

I want to disappear under the quilt and say to hell with it all.  I want to swear loudly in public. I want the comfort of a bacon sandwich or acres of chocolate.

I want the most difficult decisions we make about Pudding’s future to be which subjects he chooses at GCSE, not the choice between mainstream or specialist schools. Or whether we enrol him on a clinical trial.

I want the sun to stay out and keep the gloom of winter at bay.  I want to have a conversation with my son. I want him to walk to secondary school with his mates.

I want to choose our next house on the basis of which street it’s in, rather than whether there is space for wheelchair access.

I want to go back to being able to enjoy a novel.

I want someone to tell me that they have found a cure and everything will be ok.

I want him to bring his girlfriend home from university to meet me, so I can embarrass him with tales I tell her about his childhood.

I want him to have a quick and easy death.

I want_

I want_

I want him to live.

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…

• Speech and Language – someone who did the initial assessment, a community SLT and, just this week we’ve started appointments with someone who has more specialism around long-term language issues.
• Portage – our regular weekly visitor. Also her boss, who is an educational psychologist.
• Paediatric consultant locally, who did the first investigations. Assessment team in the hospital who took the blood/urine samples.
• The team from Manchester Willink Biochemical Genetics Unit – Consultant, specialist nurse, ERT nurses.
• Audiology (for hearing tests), Ear Nose and Throat consultants, and Physiotherapy – all both locally and in Manchester.
• All the people involved in his operation – the surgeon who did his portacath, anaesthetists, etc.
• The nurses in the High Dependency Unit who looked after us following the op.
• Cardiology clinic for ECG and ultrasound on the heart.
• X-ray department to check for skeletal abnormalities.
• Paediatric Psychosocial team to assess his development and the impact on our family.
• Children’s Social Services – responsible for co-ordinating respite care.
• Healthcare at Home – just this week we’ve met one of the nurses who will be coming here every week to administer Pudding’s ERT.

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.