Diagnosis day – two years on

It’s been a whole year since my last diagnosis day post. It’s gone by in the blink of an eye, I really hope the rest of his life doesn’t go the fast because I really can’t keep up!

This year is probably not as upbeat as last year. I feel like we’ve had an awful couple of weeks.

Fortunately for us we seem to have managed to get our head around pws and life was running quite smoothly. All the professionals we need at the moment are in place. Olivers doing far better than we ever expected him to be doing at 2 years old. Especially after being given the bleak summary by that neonatal doctor.

I imagine you have sensed that there’s a but in here…and there is.

Olivers seizures have become worse and the pattern of him being unwell to cause them has disappeared. In October alone he had 19, these are only the ones that I’ve managed to log as well. More could have happened with us being unaware because we hadn’t really been looking for them. Don’t get me wrong I know this isn’t as many as other children have…but it’s considerably higher than the general population.

I am now back into an undiagnosed fuzzy state. I feel lost and helpless. I keep attempting to convince myself that in 6 months time I’ll be looking back and wondering what on Earth I was worried about…unfortunately that’s still 6 months off and it feels like a very, very long way off.

My head is racing and I’ve now found that trying to concentrate on anything at all is hard work. It’s taken me a few days to pull this short post together.

I find that every little thing he does makes me wonder is it normal odd child things or is it seizure activity

They have said that they are pretty sure it’s epilepsy but EEG’s aren’t confirming that and we’re waiting to hear about our MRI results. He’s on medication now and it seems to be working. He’s still had a number of seizures on it but they have calmed down and after a three day stay in hospital with ones happening every few hours it’s a relief to be able to deal with maybe one or two a day. The only downside to medication is that I now don’t know if his change in personality is age, seizures or the medication. Two year olds have tantrums and push boundaries but a matter of weeks ago he was so laid back that he was horizontal…now he claws my face and throws himself everywhere.

So approach with caution, my reactions tend to be quite delayed and often don’t make much, if any, sense. If you’ve asked a question and stare at you looking a bit blank it’s probably because, although I’m physically with you, I’m mentally somewhere else and it’s often completely unintentional, so just repeat yourself to make sure I’m listening.

A year on

Hoping that Oliver would just magically awaken one day and be just like all the other babies slipped away week by week, four weeks to the day of him being in the neonatal unit we were told that the consultants wanted to talk to us as our results were in. 

Mike hadn’t come into the unit that morning as he was trying to sort out our front so that when we eventually managed to get Oliver back home we didn’t have to fight the bushes to get him out of the car.  Before leaving Mike had joked saying ‘I bet because I’m not coming up they have the results’

We’d established a very hamster wheel routine of get up, eat a bit of breakfast, go to the hospital, stay until around 1. Go home do a few bits and then either go back for the late afternoon feed or the late night feed and a cuddle. Then go home and sleep. 

Or at least try and sleep.

It’s not so easy to sleep when the little sausage you carried for 9 months isn’t where he was supposed to be. 

So this timea year ago we were hopeful we’d get some answers and be able to start making some plans. 

We’d been told what they were testing for so had already done a little bit of research but because there were a few things we couldn’t single into anything. We’d joined a hypotonia group as we knew he was floppy and we were reaching out to see if there’s anything we could be doing to help him.

Ward round was about to happen so after frantically messaging Mike and ringing him to tell him to get up to the hospital because they have the results, we had an agonising wait while they checked over everyone else’s baby and we waited in the parents kitchen.

We were called through and sat down and explained that the results had come back. 

‘The results have come back and he has something called prader willi syndrome’ 

You know how in films when people are told about life changing news there’s a kind of muffled silence where your brain is processing news and can’t take anything else in – well that happened

The nurse who we spent most of our time with cried. I cried. 

Looking back, I thought at that moment I was sad. That I was upset that we’d not got what we wanted. We wanted a baby that we could just take home. I realise now that the cry was relief. There was no more unknown of ‘what if?’ , ‘why?’ , ‘will he come home?’ , ‘if he does will it be by Christmas?’ There was a new unknown but we knew there’d be a path that others had been down.

We made a call to my dad and Mikes mum as they were in work and then went off to do the visiting to give out our news. A comment from Mikes Mum sticks with me, ‘you seem ok with it?’ 

I think every couple are different when receiving life changing news. Some retreat, some take a while to accept, some go into denial. I’m fortunate enough to be in a relationship where we both have a mind set of ‘let’s just get on with it’. This news had the potential to make or break us and all it did was make us stronger.

Being compulsive planners we went straight off and found groups. Every prader willi syndrome group on Facebook and the welcome and support that we received off the families was amazing.

When I put up our diagnosis on Facebook I mentioned that if anyone has any questions please feel free to ask. I still stand by this. After the status went up and the likes etc that was a perceived support system. Only one person sent me a message to talk to me privately about it and ask the questions that I think most people are frightened to ask. Please, please never be frightened to ask about it, it’s also never too late to ask. Don’t think because you didn’t ask questions at the beginning that you can’t ask now.

In the past year we’ve come so far, I’ve had wobbles but when I look at where we started and how Oliver didn’t move and wasn’t able to feed and now we have a baby that you can’t take your eyes off because he can roll himself to the hallway, we may not be crawling but we are sitting independently and we can shout dada over and over and over. Sometimes we remember to shout mum but it’s mainly dada. 

The prader willi world we thought we were entering when we were diagnosed is so far from the truth of what we are currently living.

For any newly diagnosed parents. As scary as everything seems now, I can promise that a year down the line you may not have forgotten all those feelings of worry but they will stop. I now have a crazy one year old, who other than being a bit slower with some of the milestones that babies are ‘supposed’ to have hit by now, you wouldn’t have a clue that anything was ‘up’ with him. He smiles and laughs more than any other baby I’ve come across and he makes me feel proud every single day. 

For those that have stuck by the three of us all the way through and regularly ask the questions about what’s going on and how is he and how we are collectively, thank you. It’s not always easy but having people that are supportive makes everything so much easier. 

Oliver at 1 month, 6 months and 1 year old