This week was the first visit to a paediatric consultant.

He hasn’t seen Oliver since he was about two weeks old. He had noticed a difference in him, which we expected as he’s a totally different baby in comparison to then. He checked him over and mentioned the dimple at the base of his back. This isn’t something that was new to us as it had been discussed before but had never been highlighted as a concern but as somethingto watch. We aren’t sure whether it, perhaps, should have altered by now or if they’re being extra cautious but he’s now had an appointment through for his scan early on in the new year. We aren’t too sure what they’re looking for but we will cross that bridge when we come to it.

More great news though is that our consultant had spoken to his friend at Alder Hey, who happens to be an endocrinologist, he agrees that Oliver needs to start growth hormone in the first year of life.

This was like music to our ears

We know from talking to other families that the growth hormone conversation can be very much one way or the other, the doctor will agree and start it or you have to battle for it. We’ve had documentation sent over from other families in preparation for an appointment with the endocrinologist so that we can push for it. It was a huge relief that we know that we aren’t going to have to battle for it. We will still go armed with supporting evidence but are hopeful that we won’t have to use it.

We aren’t sure what’s going on with all of the teams that support Oliver, we know that the consultant that we’ve just had an appointment with isn’t the consultant he is supposed to have, this is the same for our speech and language therapist (SALT) but we have a feeling that because of his condition being rare that staff don’t want to let go of him. They want to see his progress and help him on his journey. What ever the reason is we’re grateful for the consistency not only for us but for him as well. 

Now for family time, Christmas is my favourite part of the year and we hope that in the future it will be Olivers favourite part of the year. Not for toys and presents but for the family time that we have.

From all of the Edmond-Jones house hold have a lovely Christmas 🎄🎅🏽 we hope next year has as many happy memories as this year xx

We will still do it, just at our own pace

So it has been just over a month since we received Oliver’s diagnosis.

Things I’ve learnt:

  • Everybody takes news in different ways
  • People who you didn’t expect to offer support appear
  • People you expected to give you support back off
  • At 27 years of age you can still surprise people
  • Personal experience is invaluable

The past 8 weeks have been a rollercoaster ride. I’ve been up, I’ve been down, I’ve been numb and I’ve been completely confused by feelings. Hormones after you have a baby are all over the place anyway but having gone through what we have all been through can take its toll on you. Oddly I’ve discovered an awful lot about myself and the people who I surround myself with. I’ve friends that I thought would be crutches not appear, I’ve found that work colleagues are actually more than that and that being direct with people is probably the best way to deal with things.

I think as a unit we have surprised a lot of people, which has surprised me a great deal. I never thought that me surprising people would surprise me and makes me wonder how I am perceived by other people or if my reaction, Mikes reaction and our reaction as couple is unusual.

Our support network has extended since having Oliver’s diagnosis. Oddly to people we have never met. Facebook for all of its faults, has actually become one of my crutches. Not my own private profile but a group profile that we have been added in to. Having a diagnosis of something that is rare (one other case go through Arrowe Park as far as we are aware) is, as you can imagine, quite a lonely place. That lonely place we were in lasted about 4 or 5 hours. It’s not lonely when you have a facebook group full of parents who have children with exactly the same condition. Right now I feel closer to a group of people that I have never met because they completely understand every worry that I have, most have already been through it and can not only hold your hand (metaphorically) but can also guide you through, pick you up when you are down, dust you off and send you back on your merry way. One thing I can tell you about their behaviour, it’s catching. We’ve been in the group a little over a month and other families who have just had their diagnosis have come through and watching their struggle is heart wrenching. Not every one has reacted how Mike and I reacted to the news. Maybe their reaction is more honest or indeed everyone doesn’t react in the same way. Some people are more in touch with their feelings and express them more easily. The only thing I know is that these families genuinely care for each and every other family in the group and this includes us. We now belong to a small community – a supportive, praising and morale boosting group of amazing families.

I’m a self confessed Googler, I believed that if you needed the answer, google has it. Google does have the answer to pretty much everything you need. I can tell you what Google didn’t have for us, real life experience or up to date information.

I can imagine that if you have signed up to read this blog then you may well have read up on Prader Willi. I can tell you, hand on heart, that what you read on Google is not the reality of the syndrome anymore. The families we are now in touch with have shown us exactly what Oliver’s future is likely to be and it is 100% not as bleak as any search engine will have you believe. The families we have spoken to have shown us and told us what life will be like. This has probably been the biggest boost for us, they have been a safety net when we were falling and its something that I don’t think I can put into words how thankful we are.

The title of this entry I originally picked ‘Just getting on with it’ because that’s exactly what we are doing. We’ve been told what is important to push for and we have started the ball rolling for each of those things. Now we can just enjoy being a family, a normal family because in reality that’s what we are. We go shopping, take the dog for a walk, have PJ days and have lazy mornings. We’ve slowed down with the compulsive checking and looking for things that we were doing early days and have relaxed into home life. This is in large part because of the Facebook group but is also due to our family and friends stabilising us. Without the time and space given to adjust and relax into this, I don’t think that we would have got to the point we are at, as quickly as we have.

We will still do it, just at our own pace.

Last month we didn’t think quite like this, if I am honest, it’s probably only in the last week that I have felt like this. PWS hasn’t stopped us doing anything so far, except getting out of hospital at the expected time and for now that’s exactly how it is going to stay.

So if you see us and we look like were being a normal family, doing normal family things. It’s not because we aren’t ‘dealing’ or ‘coping’ with our situation. It’s because Oliver’s syndrome is the smallest part of our family life and we aren’t going to let it stop us doing anything that we wanted to do, if you have witnessed how far he has progressed since day one, you’ll know that Oliver is very much of the same opinion.

 

 

Getting from tube to no tube

Oliver is tube fed. This is due to the lack of understanding on his part of the suck, breathe swallow reflex. This is something we all take for granted as we do it without thinking. Next time you’re having a drink out of a bottle think about it while you’re chugging down your Coke or Fanta. Now imagine trying to relearn it, not an easy task.

We feed Oliver 6 times a day with the tube at the moment and we’ve had a battle to get to the point of being able to bottle feed anything. We’ve gone from struggling to do 5ml to taking 15-20ml a session now. This mainly being down to Mike not me. For someone who generally isn’t very patient he’s worked wonders with Ollie and has got the bottle feed down to a fine art now! We’re just waiting for speech and language team (salt) to see his huge improvement in a matter of days and check we’re ok to carry on the way we are and continue to let him dictate what he can and can’t do

For pws parents who are struggling to get their little one to feed here’s what we’ve been doing

First we’ve had the ok to bottle feed by the salt team.

Second we get comfy on the couch with our legs bent up  We lay Oliver on our bent knees so that he’s stable (holding in your arms can make him need to find his balance, so distract from what he should be focusing on)

Put a timer on for ten minutes and start feeding.

Some feeds we get five minutes in and we can see he’s had enough and stop, other feeds at the end of ten minutes he wants to keep going but we don’t want to push him and wipe him out. It’s more important to us that he tries to feed each feed than get one solid bottle done a day.

We are making progress and he never seems to fail to surprise us with what he does. Yesterday he brought wind up no problem! There were cheers in our household and smiles all round and I’ve come to realise this is what being a parents all about. Not showing your baby off but learning to celebrate all the small things that they achieve. 15-20 ml is nothing for most new born babies and for us and our seven week old it shows a huge leap in progression that when leaving the hospital we thought would take months because of google

Oliver 0.5 – 0.5 PWS

We’re coming to claim that point five PWS don’t think you can keep it!
Note: I will continue to update this post as and when we make more progress. Hopefully it won’t be long before a full bottle every feed and we can get rid of the tube

The beginning is a great place to start…

Oliver was born on the 20th October 2016 at exactly 5am. I had been induced due to a number of complications during the pregnancy. After 12 hours of labour (more or less to the minute) he arrived, he didn’t really make any noise but he was allowed to be placed straight on to my chest just before dad fainted….for the second time.

People say we had a rocky start to being parents…Mike fainting twice, the first time hitting a wall with his head and giving himself whip lash. Oliver being taken off us not once but twice, I was ill, they didn’t end up finding the cause of Sepsis but after a week and a half of being in hospital I was allowed home

So a few steps back. Just after the second time Mike fainted, I didn’t really notice this due to being completely overwhelmed with the baby that I had spent months thinking about, planning for, planning our future. After some tea and toast we were moved back up stairs and put back in our room, I never went to sleep. I just peered over the cot at him wondering how on earth I’d managed to create such a tiny perfect thing, whilst also wondering how he ever managed to fit inside me.

I’m not too sure how long after but one of the support team came in to help me breastfeed. Oliver didn’t take to it but I explained that I really wanted to, so they fed him with donor milk from a small cup (something I never even realised that you could donate) he appeared to be struggling but the lady had said that he sounded a bit mucusey so we put it down to that. The next few feeds were the same but he appeared to be taking some. He was also struggling to maintain his temperature, so had to be put on a hot cot. We were told that once he stabled his temperature and had been off the hot cot for 48 hours we could go home. This was what we were working towards.

The following day Mike went home to sort our dog out (Roo) and I was left alone with Oliver. I continued to express as much milk as possible (this is tiny amounts when you first have your baby) so that he had as much as possible off me and then would be topped up by donor milk. That night a paediatrician came in to check him over as it had been noted that his feeding wasn’t great. His overall tone was pretty poor as well but being a first time mum and never really seeing a baby that had just been born I had put it down to just being tired after birth. Oliver also had undecended testes. They mentioned that they thought he may have an infection so it best to take him away, they said he should be back in an hour (it being 4am I went straight back to sleep and being told by so many people to get sleep when you can I thought it an ideal opportunity) when I woke at 6 and he still hadn’t come back I panicked, text Mike to tell him they had taken him off us and I was going to try and find out what was going on. He walked into me crying walking down the corridor as I had found out Oliver was being kept down in High Dependency.

High dependency is not what you want to be told about while you are highly emotional and tired. Mike came down to the unit and we sat with him. We knew when he was born he was a small baby (all 5lb8oz of him) but compared to all of the other babies in the unit he looked huge! After two days of him being down there he came back upstairs to us and I was moved into a different part of the ward, where babies who needed slightly more care are kept. He now had an NG tube, we had spent two days feeding through this on the unit but we were told that we weren’t allowed to do it ‘behind closed doors’ up on the ward. I still don’t understand this. So coupled with the fact that we were wary of taking him out of his hot cot in fear of him getting cold, we also couldn’t feed him. These problems on their own are difficult enough but combined meant that we mostly just tickled his head, we occasionally got him out for a cuddle but he was wrapped up in so many blankets that we felt as though we were just holding blankets. Feeling like a mum or dad isn’t easy when you can’t do ‘normal’ things.

By this point I was so tired, emotionally and physically. It’s hard being on a maternity ward where you can hear all babies crying and you have a baby that isn’t make any noise and that you worry about cuddling and you can’t feed. I had a headache and asked for something for it. Later that night a nurse commented on my breathing and how it seemed laboured. After a quick temp, pulse and blood pressure check they started to worry. A heart rate of 130+ when not moving and a temp of over 38 they pumped some fluids in through an IV and then checked me every hour or so. Again Mike had gone home and when he came back something had changed. My pulse slowly got faster and my temperature didn’t shift. They took bloods but couldn’t work out what was wrong. Looking back now I can see that I really was poorly but didn’t realise it. My only focus was Oliver. They couldn’t look after me on the ward so sent me back down to labour ward where they could keep a closer eye on me. While we were down there Oliver came off the hot cot and we were so excited (we figured 48 hours and we would be going home and starting off life as a real family) the next day we went upstairs and Oliver hadn’t maintained his temperature and his tone hadn’t improved so they said they had someone come and check him over and continue giving him his antibiotics.

Later that day they sent one of the neonatal nurses up to check over Oliver and she explained that he was going to go for a scan. I queried why and said that we had been told his testes were there they were just tucked right up. She explained that the last brain scan that they had done wasn’t clear enough so they needed to repeat it. I stopped her and said that we didn’t know that he had already had one and asked why they were doing it. She explained that the low tone/floppiness that he has is linked to brain damage. To say that this knocked the wind out of our sails was an understatement. I’d never seen Mike cry before but the pair of us curled up together on the bed and sobbed and tried to process what was going on. We had previously googled ‘floppy baby’ and we learnt that medically this is called hypotonia and we looked into it and had realised that this problem happens a lot and that he would probably progress a lot slower than other babies. Brain damage was certainly not on our initial plan when having a baby. Mike had him growing up and playing for Everton and we would never have to work again because our boy would look after us. The results came back and we were told everything was clear. At this point our entire attitude and outlook changed. Brain damage would have been a real blow….anything else we could deal with now.

Oliver never came back up to my room he was kept down stairs in the high dependency unit. We were told that Oliver was going to have some genetic tests. Prader Willi Syndrome and Noonans were mentioned but they weren’t sure.  After a week of my antibiotics my bloods had improved, I had no headache and was medically fine. They said that I was allowed to go home if I wanted but they weren’t kicking me out. Sleeping in a room with a quiet baby that isn’t feeding is one thing, sleeping in a room without your baby for five nights while you listen to all the other babies cry is heart breaking and a constant reminder of how your start to being a Mum is not how it’s told in all the books or shown in all the films. Leaving the hospital that night without him was awful, I cried.

So far this story has been all doom and gloom. There were things that I haven’t mentioned that stopped me falling into a complete pity pit. The consultants that did the ward round started noticing differences in Oliver. We thought that we could see things but being a parent I think you tend to magnify every small thing that you see. His movement had already started to improve. Possibly due to the pulling on the arms that we were doing and the different things that the physio team had showed us how to do.

Oliver stayed in for four weeks. On the day that he was due, I arrived at the hospital and one of the nurses queried where Mike was. I explained that he was sorting out the bushes on the drive so that when we eventually got Oliver home it was easier to get him in and out of the car, she told me that the results were in and the consultant wanted to see us. Oddly we had a conversation that morning and Mike had said I bet because I’m not coming in you will get the results (there is a pattern of when he’s not there something happens) After an agonising wait we were sat down and we were told that his results show that he has Prader Willi Syndrome. We were shocked by it, I cried (before I was pregnant crying was a rarity from me) we were told to go home and process it and tell family. So we did. We both cried a bit as we left the hospital. I rang my dad and told him, his attitude was that’s fine we can work with that. By the time we got to Mike’s Dads we were ‘ok’ we told his dad with no tears, then to see my mum and sisters, again no tears. Mikes sisters, one had tears and the other didn’t…or at least not while we were with her. We explained to everyone that we have a bit of mourning to do for the child we thought we were going to have but we know that we were going on another journey. We explained about the condition and how he will slowly build up and catch up with other children and the issues that we will have with food.

I’ve questioned why us, I didn’t do anything through the pregnancy that I shouldn’t have. I’ve witnessed other couples arguing over who was going for a smoke first, I know of others that drank more than the occasional glass of wine. They came in and had their baby after us and left before us. I’ve realised though that those families probably wouldn’t have the same strength as we have and as much to offer him. I’ve been told on more than one occasion that children with problems only go to special families. Before Oliver came along I wondered how families cope with children that are disabled or special needs. They don’t cope they embrace it because at the end of the day the child is there’s and they will love it unconditionally.

We found a facebook group for PWS families and then from there on we were added to a different private group for UK families. The support and advice that they gave us was invaluable. By the time we had gone back to the hospital the following day ( we had been up late afternoon the day before between visiting families) we had already geared ourselves up and asked when we could get growth hormone and had a list of questions. The team looking after him were shocked to say the least. I think they expected our world to crumble a bit, which I understand but that’s really not how we work as a unit. A conversation later that day with the nurse who had told us about the brain damage possibility probably made it more clear why we were ‘ok’ with the diagnosis. I work for a Children’s hospice. I see families that lose their children and are dealt the worst cards in life. Having a child that may not be ‘normal’ but will live a full life is far better in our eyes than being dealt something much worse.
We are at home now, after the phone call that we received saying when do you want to take him home we’ve not looked back. We have a team of people coming out to help him. He’s still being tube fed but now at six weeks old we can’t believe that the baby that we started off with is now kicking his legs and moving his arms around. Watching the staff that come out react to how well he is doing is amazing and fills us both with pride. He can take 5mls in a bottle which isn’t much but it’s something, we don’t know how long the process is going to be but we are getting there. As I am typing he’s under his play gym trying to get the little mirror. He smiles, I’m not too sure if it’s at me or just while he’s around me but that doesn’t matter it’s the smile and it’s for me in my eyes.

I’ve started this blog after having a bad day emotionally. I’m tired, as any new parent is but I’ve figured that if I write through both my bad days and good days. I will always be able to see how far we have come and hopefully be able to show other new PWS diagnosed families how everyone’s emotions bounce but there is always positives that outweigh the occasional bad day you have

This journey that we are about to embark on isn’t what we had planned when we found out that we were pregnant but I can tell you that I wouldn’t swap this little chap for anything