A few weeks ago Mike and I met with Catherine and Wills and I’m so grateful that she asked us to meet up.
Since we’ve had Oliver I’ve not hid that I feel a bit alone and a bit anxious about his condition so when I got chatting with Catherine and she suggested meeting up I said yes straight away.
It was only after saying yes I thought about how it may affect how I feel. I was excited about meeting Wills and seeing what we have ahead of us, I was also a little aprehensive. What if I didn’t like what I saw, what if I burst into irrational tears and can’t stop….what if, what if, what if.
Wills was different to other two and a half year olds that I’ve met before. This wasn’t in a bad way by any means, he has a wonderful quiet and gentle little personality. He was intrigued by Oliver and wanted to show him all of his Mr.Tumble cards. I didn’t realise how many alter egos this character had….I’m sure that it won’t be long before I know them all and will eat, sleep and breathe them just as Catherine seems to be doing.
It was a huge relief to both Mike and I to see how well he’s getting along. He was much taller than we thought he’d be (seeing all of the usual stated facts you’d think anyone with pws doesn’t get past 5ft) he’s taller than my three year old nephew which was exciting for us to see. He’s cruising along chairs and tables so isn’t far off independent walking. He understood everything that was being said to him and he’s signing to show mum what he’s after. Another thing we’ve expected to need to learn and this has reinforced it.
Just as we were about to say goodbye Catherine was a little teary and I think that it’s probably a flash back for her looking at Oliver, Mike and I and it was definitely a reminder of how far Wills had come along.
One thing that we’re discovering (after google gave us the fright of our life when we first found out his diagnosis) is that the older pws children are our inspiration and the drive and hope that we need to get through the tough days. It’s not easy seeing other babies the same age and younger being so much more robust and sturdy in comparison but that’s made so much better by meeting families like Catherine and Wills and seeing that we will get there even if it is slower. I’ve heard this week that one of our older pws inspirations have got B and C gcse grades. I know people who haven’t had to face all these difficulties that never managed to get those grades.
Life no longer looks so much of a worry. We’re optimistic and the sky is the limit for our little man.
We left Ottos with a huge weight lifted off us, a weight that I wasn’t overly aware was sat there. We were on a complete high and spent the entire day chatting about them. I don’t know whether it was seeing our future and how it really isn’t as bad as we thought it would be or sitting and having a conversation with someone that’s gone through all of the same worries and stresses as we have, she had a complete understanding of how we feel and could give us answers to questions because of first hand experience. This is the first time since Oliver was born that I’ve sat with someone and talked and not felt worried about how my reaction may effect them. I know if I’d got upset that it wouldn’t have mattered because she’d understand that feeling at that time because she’d been in that exact position before.
We’ve also had our genetics appointment since meeting them, we were quite shocked that the genetics team couldn’t really offer us any information that we didn’t already really know. We’ve also learnt that health professionals can quite often bullshit their way through things. I do not mean you should never listen to health professionals but when someone tells you that they have a lot of experience with pws children/patients and then in the following sentence tells you that we won’t get growth hormone soon (as in before two years of age) then she either didn’t have a lot of experience with this genetic condition or she doesnt know as much as she thinks. Even after informing her that we know he will get it she again denied it would happen and we pretty much had to agree to disagree.
We’ve gone from being under the impression it was deletion to her baffling us and asking for Mikes blood to check to see what the chances are of it happening again. For those unaware there are three different genetic causes for pws and only one (as far as we believed) would be something that could happen for future pregnancies. This isn’t the one that we believed Oliver has.
We’ve also been given guidance on our next pregnancy and the testing that we can have and being informed that we couldn’t get a medical termination if the results where positive. Now I don’t know what you think when you hear the term ‘medical termination’ but Mike quite rightly said that surely it’s a matter of ethics and it’s our decision? After some back and forth we then established that she actually meant that there would be no advice to terminate as it’s not a life limiting condition and we’d have to go through the ‘normal’ termination process – what ever this may be. We then explained that we would use the tests to prepare ourselves, to not go through what we have just been through. The agonising wait and testing that we went through when Oliver was born, waiting for test results for brain damage etc knowledge and preparation would have made the situation a little easier. Not painless – just less stressful
To sum up our genetics appointment it was more a waste of time than anything. I don’t feel that who we spoke to gave us anything that we actually needed and we feel that we were challenged then dismissed on things that we brought up.
This was disappointing for us. We know that there are so many rare genetic conditions out there so we understand that they can’t know each one inside out – we just ask that people are honest about it. We’re ok when (as my gp did) we are told that they know the very very basics and we will have better knowledge of everything going on.
We’ve now got to sit and wait for the blood results to see what the future may or may not bring.
We aren’t living that far ahead though, we’re just trying to enjoy each day as we have it.