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It's been an interesting and eventful few days for us as a family. Wednesday brought Foz's day off and the afternoon found us at home having some dinner before a planned trip to the park. We left Bee watching CBeebies as Foz brought the washing in off the line and I nipped upstairs. We'd recently got Bee some new George Pig bedding and Bee was very excited as Daddy was bringing it in off the line.

I started downstairs a few minutes later to find Bee halfway up, unattended dragging her George Pig duvet cover behind her saying "me bed, me bed". She wanted to put it on her bed. I said her name and asked her to wait there, stay there, panicked even though I knew she was capable of climbing the stairs. It was the bedding that worried me. 

As I shouted her her feet got tangled and she lost her balance, falling face-first down the stairs. I screamed and dashed down after her, nowhere near able to make it in time and she hit the bottom with her shoulder and the side of her face. I was horrified and screamed for Foz, who came running out of the garden. I picked her up and thankfully she was hysterical (and not unconscious) but her nose was bleeding and a lump was forming on her temple. I was concerned about broken bones and we agreed a trip to A&E was necessary.

Foz held her on his knee, trying to calm her down as I dashed about packing a bag with all the essentials. Within 10 minutes we were in the car and making the 10 minute drive to the hospital, feeling like the worst parents that ever were or will be.

A&E booked us in and we went sent down to Children's A&E to wait for the doctor. Of course once we got there and Bee saw all the toys all she wanted to do was play. Typical. I've lost count of how many times I've said to a doctor "she is ill...honest!"

 After a couple of hours of waiting we were sent home with a head injury advice sheet and a warning to keep an eye on her, like we wouldn't! As she hadn't been knocked unconscious they weren't too worried about concussion and she had brightened up during the wait, even though she was still a little quiet. We took her home and kept her up for the required 2 hours before Foz put her to bed.

The following morning, Thursday,  Bee woke, seemingly o.k but as the day wore on I could tell she wasn't herself. She was quiet and wobbly on her feet, had a very snotty nose with a cough and kept stumbling. Her temperature was on the rise too. Still, there was nothing concrete to justify taking her back to see a doctor so she had some medicine and went to bed at the usual time. 

Just past Midnight I went up to bed and popped my head in to check on her. She was surprisingly already awake and so I went in, sitting with her a while and stroking her hand. She was very hot and snuffly, letting out the odd little cough. After 10 minutes or so she started making the sound that I know means imminent vomit so I sat her up and shouted Foz, who came up with wipes and other necessities. She was sick everywhere and as I stroked her back for comfort she suddenly went rigid and almost flung herself back onto the bed, her eyes bulging and not focused, her arms and legs jerking with spasms shaking her whole little body. She wasn't drawing breath. Foz and I panicked, him trying to hold her to stop her hurting herself on the metal frame of her bed and me screaming her name. I ended up clapping as loud as I could in her face, it was all I could think of to stop her. The whole thing lasted about 10-15 seconds but it felt like a lifetime, those moments where my daughter wasn't breathing and I had no idea what to do, I was helpless. 

After she snapped out of it she was hysterical. Foz and I didn't even have to say anything to each other, he started to comfort her and get her changed from the sick-covered pyjamas and I rushed around packing another bag for A&E. We were on the road by 12:40am, making the 10 minute trip. All kinds were going through my mind, my main concern was that the bump to her head had caused some kind of brain damage. Looking back it was probably a silly fear but I'd never seen her like that, never seen anything so terrifying. 

We were seen fairly quickly at the hospital, although the main A&E was busy there aren't many children need emergency care at that time in the morning. Thankfully it was the same doctor as the day before so we didn't have to try and explain everything, just what had happened that evening. He was concerned and after giving us some Calpol to put down her tube to bring her temperature down he arranged a bed on the ward.

We made the long trek up the corridor to the Children's Ward where we were lucky enough to have a whole 6-bed bay to ourselves. I'd been worried about sharing the space, as mentioned in previous posts, Bee doesn't really understand appropiate behaviour in certain situations and we would have found it very difficult (virtually impossible) to keep her quiet in respect of children & parents around her sleeping. As far as we're aware Bee doesn't know how to whisper. 

By the time the on-call doctor had been round and Bee was able to sleep without being poked and prodded it was getting on for 3:30am. We were all shattered and I left Bee sleeping to take Foz home, he was supposed to be at work in just over 5 hours! We hit McDonalds on the way home, both starving and I stayed at home long enough to eat it with him before heading back to my sleeping Bee on the ward. By this time it was getting on for 5am and as they were due to wake her then anyway (every 2 hours is standard precaution for a head injury) I paced the ward trying to stay awake. Once the check was done, she woke quickly and was alert, both she and I were able to sleep. I curled up in the uncomfortable chair next to her bed, padded it out with pillows and tried to get some sleep.

Home comforts can make all the difference

I was up again by 7am, when the shift change came in. Nurses don;t make any allowances for people sleeping and the ward gets noisy very early. Thankfully Bee slept on, the poor kid was exhausted, so I sat and quietly read my Kindle, waiting for breakfast to come round. My girl must have the nose of a bloodhound as she started to stir just as the breakfast trolley made it to the bay next to ours.

Two plates of toast, a cup of tea for Mama and some CBeebies later and Bee was looking a little brighter. Her raging temperature was gone and she was more alert.



Of course Bee wasn't happy to watch CBeebies in her cot for long so it was off to the play room, which has had a revamp since we were last in-patients. It's very hard to convince a doctor that your child is ill when she's doing this....

Around 10am the doctor came and had a chat with me. The diagnosis: Bee had a febrile seizure brought on her by very high temperature. It was nothing to do with her fall from the day before, it was simply a coincidence.

As heart complications are common in children with Kabuki Syndrome and seizures can be related to that the doctor ordered an ECG for Bee, just to be on the safe side. It came back perfectly clear and we were allowed to go home. 

Having her ECG

We are aware though that seizures can suddenly manifest in older children with Kabuki Syndrome and it's something that we need to keep an eye on. Should she have another one and there's no high temperature we'll have to go back for further tests. As it is we're on the waiting list for another EEG due to her little 'absences', moments of tuning-out.

Overall it's been a very stressful and worrying few days but Bee has come through it all fine, just a graze on her nose, a bump on her head and a bit of a cough & cold. Thankfully she'll be ready for the start of school on Tuesday, she's such a little soldier.

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I want to add here that our NHS is a very important institution in this country. We've needed a lot of support for Bee since her birth and it's always been there for us, without charge. We've always received the best of care and have met some wonderful medical professionals along the way. Sometimes, when headlines like 'hospital lets patients die in corridor' etc hit the news it's easy to forget that these are isolated incidents in a huge network of healthcare that supports our entire nation using world class training, techniques and equipment FOR FREE.

It doesn't seem to really be penetrating the public consciousness yet but the current Conservative government is attempting the sly, secretive dismantling of the NHS and it's very important that every UK citizen who cherishes what we have gets behind the campaign to save it from privatisation.

This is something that is very important to me.
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Another Day, Another Trip to A&E

Well, one thing we can never say about life with Bee is that it's uneventful!

This morning, while getting Bee ready for nursery I noticed a small lump on her inner wrist. Immediately I panicked. It looked just like a bone sticking out, as if she'd broken it. I wracked my brain trying to think when she'd had a significant fall recently or shown any pain or discomfort but nothing seemed to fit. Bee stumbles a lot due to her gross motor delay and hypotonia but she hadn't had a major fall in a couple of weeks.

I gingerly pressed at the area around it and Bee didn't react at all so I tried gently touching the lump. Nothing. No tears, no cringe, no reaction at all. It felt fairly hard but still yielded, not like bone. All kind of thoughts went through my head. The first (ridiculously) was a tumor but then, I couldn't think when I'd heard of a tumor on the wrist. So then maybe a fatty lump or cyst or some kind? But I wasn't sure if that happened in children.

Bee was still asking for nursery and as she didn't seem to be in any pain and was moving her hand freely I decided to pop in and ask the advice of her teachers. It's a nightmare getting a GP's appointment.

On arrival all said it was unusual but as she wasn't in any pain and was off playing with the toys they were happy for her to stay and would ring me with any problems. I decided to go home, pack a bag and take her to A&E after nursery.

So:

Milk, syringes & tube....check

Nappies, wipes & creme....check

 Spare clothes....check

Pyjamas & slippers....check

 Toys....check

Laptop & DVD's....check

It sounds a lot but from grim experience we go in expecting it to be a few hours and end up being admitted, sometimes for days on end. These days I always go well prepared: a small bag with nappies, toys & things for the day plus a suitcase stored in the car with extra things for a longer stay.

After collecting Bee from an uneventful morning at nursery we headed straight to A&E at our local hospital. After booking us in the lady at reception asked if we knew our was to the children's section of A&E. Do we ever! We're so well known in the children's ward that we're always greeted by name and all the staff are really pleased to see Bee. Today was no different, a lovely nurse on duty was someone we'd seen many times during Bee's various stays and she was happy to see the big changes in Bee since her last visit.

We had an initial consultation with the doctor, who asked lots of questions and examined Bee's wrist. She agreed that Bee wasn't in pain or discomfort and had a full range of movement so it was extremely unlikely to be a break. She said it was most likely a ganglion cyst, which is harmless, but just to be on the safe side she would send us to get some xrays done then take another look. So, back into the waiting room until we were called to radiology. 

Bee loves the waiting room. It's full of exciting new toys and books, not to mention other people to nosey over. She became particularly entranced by a teenage girl dressed in school PE gear and with a cut over her eye. After slowly walking back and forth past her a few times, slyly watching her out of the corner of her eye, Bee finally plucked up the courage to stand in front of the girl, point and tell me "uh oh". Thankfully the girl and her dad weren't offended and laughed about it. A few times in the next hour of waiting the girl went away, maybe for the toilet or the vending machines and each time Bee went over to her empty chair, had a good examine of it just to make sure she was definitely gone, then turned to the dad and asked "where is? Where is?" I laughed and laughed. It's not at all like Bee to be comfortable with strangers and her concern about the health and whereabouts of the teenager was lovely. 

We waited about an hour for Bee's xrays. During that time I googled 'ganglion cyst' and found that they are indeed harmless, although can be painful and sometimes need surgical removal. From my reading it appeared they were most common in adults and I could find very little except for various posts on parent forums for ganglion cysts in toddlers. The webpages I browsed seemed to conclude they were generally caused by repetitive strain or injury, which didn't seem to fit with Bee and they could go away on their own. Sometimes, if they didn't disappear or became painful they could be drained of the fluid with a needle or surgically removed under anesthetic. Slightly worrying.

Bee's xrays were not fun. Bee will not voluntarily sit still and certainly would not understand to keep her hand still on an xray plate so I had to sit her on my knee and clamp her arm in the right position. Not a great experience. Bee struggled and cried but it was a neccessary evil and it was over fairly quickly. To calm her tears the radiographer offered Bee an 'I've been brave' sticker and, to Bee's complete joy, a Peppa Pig certificate! Honestly it was like flicking a switch. The tears stopped, the smile came out and she was joyful little Bee again.

So back to the ward to await a doctor's perusal of her xrays and diagnosis of her wrist. It was another hour or so before we were seen again, this time by a different doctor. She'd looked at Bee's xrays and there's definitely no break or fracture and the most likely diagnosis is a ganglion cyst. The doctor said she'd never seen one in a child as young as Bee and would like us to go back and see a consultant in a week's time. Which we're happy to do but it is a little worrying. If it's just a harmless cyst that should go away on it's own why do we need to go back and see a consultant? At least we'll only have a week to wait and find out.

Victories and Viruses

So Warrington Wolves made it to Wembley. You could have floored me with a feather when the final hooter went in our semi-final against Wigan Warriors and we were the victors. We'd actually made the Challenge Cup Final! The Wire were going to Wembley! But that left us in a huge dilemma: we'd never left Bethany for more than a couple of hours and even then we'd only done it 3 times. But Warrington were in a cup final for the first time in 19 years and as lifelong supporters how could we not be there to see it? Of course opinion was divided. I wanted to take Bee with us and Foz thought it was best if she stayed at home. We live a long way from London and would be gone from very early in the morning until very late at night. Foz's common sense won over my emotional irrationality and it was agreed Bee would stay at home. I would only be happy with one person doing the babysitting: my Mum. After myself and Foz she knows Bee best and nobody could do a better job than she can. Plans were made and my Mum was really looking forward to it. So, minibus booked and costumes organised I looked forward to Wembley with a mix of pure excitement and icy dread. I knew leaving Bee was not going to be easy.


The morning of the Final was bright and warm, surely a good sign, and my Mum and Ken arrived early in the minibus. Myself, Foz and our friend Thecko, costumed up, decorated it with blue and yellow flags, bunting and a sign reading 'this way to Wembley' for the back window. In all the commotion Bee had awoke so her Dad went to collect her from the cot and bring her downstairs. Once in my arms I couldn't let her go. It was so hard to leave knowing I wouldn't see her again for at least another 15 hours. But leave we did. Wembley was calling and we had another 13 fanatical Wire fans to collect on the way. My Mum and Bee waved us off, or rather my Mum waved and Bee attempted to pull her hair, and I shed a few tears as they disappeared from view. Still I knew I was leaving Bee in the best possible hands, I'd just miss her terribly. My Mum was planning on getting Bee bathed, dressed then taking her out for the day with her NannyGranny Jan.


And so, we were off to London! We stopped at the Wire stadium first, our pick-up point for the rest of the travellers on the bus. What a sight! 50+ club-organised coaches on top of the random fan-run coaches like ours, it was wonderful chaos. Vestas, one of Wire's sponsors, had brought lots of free merchandise so we made sure we had stocked up on flags and inflatable banging sticks before finally boarding the minibus and hitting the motorway. On the way down it was almost as if everyone on the motorway was heading for Wembley, decked out in primrose and blue. We waved at the passing cars, coaches and minibuses and received enthusiastic waves back. Everyone was so excited. We'd never been to Wembley and never seen Warrington in a cup final so you can imagine how excited we were. Mine was twinged with worry though. I missed Bee terribly already and we were not even in London. My Mum had texted a couple of times so I knew everything was ok, I just wish we'd brought her with us. On arrival at our booked parking spot, a pub 5 minutes from the ground, I set up my impromptu face painting booth on the floor of the minibus and proceeded to coat my fellow travellers in blue and yellow face paint. Once finished, although conveniently parked at a pub we decided to forgo partaking of the produce and head over for Wembley's over-priced and watered-down beer. I just couldn't wait to get into the stadium and see it filled with Wire fans. The walk up to Wembley was fantastic. To see all the primrose and blue-adorned people gave me such a sense of camaraderie. Plus, as guilty as I felt, it was nice to be having a break.


Inside the stadium was immense, there were Wire fans everywhere and the atmosphere was so excitable. We hung around in the concourse for a while, getting beers, hot dogs and programmes and then took our seats, about half way up the lower tier and right behind the sticks in the Warrington end. Amazing. We'd missed the pre-match entertainment but had made it in plenty of time for the pre-game staples: 'Abide With Me' and the National Anthem. There had been a lot of talk and laughing between us before the game about Abide With Me making even the toughest men cry but it just didn't get me. The National Anthem did though. I'm not particularly patriotic, it was more the knowledge that Warrington were playing in a game big enough to warrant the National Anthem being sung. I was a blubbering wreck. The fans roared as the song finished and the players lined up for kick off. I won't bore you with the blow-by-blow details of the game, Rugby League is not to everyone's taste, I'll just say it was a fantastic and nail-biting game. Towards the end of 80 minutes Wire were in the lead and I allowed a small glimmer of belief that we could win it enter my consciousness. As the minutes ticked past Huddersfield were fast running out of time to score the points they needed. You could feel the atmosphere begin to change from tension to celebration we approached the dying minute of the game. Elation swept through us as we counted down the final minute. Warrington had done it. Challenge Cup Champions. We jumped around and danced and cheered as the team did similar on the pitch. I felt my phone vibrate in my pocket and fished it out, looking forward to the inevitable 'congratulations' text messages. It was from my Mum. "Don't panic". My stomach dropped. "Bee is in hospital". The fear that had lurked at the back of my mind all day was there in front of me in black and white. y baby was in hospital and I wasn't there. The text went on to say they were waiting for a doctor and she would let me know as soon as there was any news. I told Foz straightaway and we worried over the possible causes. The most obvious (and likely) was another virus but the possibilities we endless and very scary.


Of course the stadium around us was still vibrating with the roar of celebrating Warrington fans, all oblivious in the drama unfolding in our two seats. Being on a minibus meant we didn't have the luxury of dashing home to Warrington so we had a decision to make. What would we do? Obviously we wanted to get home as soon as possible but there were 14 other people with us who wanted to enjoy this historic occasion. We decided to wait until Warrington had lifted the cup and everyone was ready to start leaving the stadium to break the news. It wasn't long before the team ascended the steps and one-by-one accepted their winner's medals. I had such mixed emotions: elation at my team's victory and despair at every passing minute I wasn't at Bee's side. I couldn't stop the tears although thankfully I wasn't the only one crying, I defy any Warrington fan to claim they didn't shed a tear that day. After lifting the cup the team posed for photos and paraded around the pitch. It seemed to go on forever, I just wanted it all to end. When it was finally all over and the last player had left the pitch we joined the crush of fans all exiting the stadium and gathered together with our minibus group in the concourse. It was chaos. The Wire fans milling about were crying & hugging strangers, cheering and waving flags and banners. We decided to tell only our closest friends Frilly & Nita so they could help us shepherd everyone back to the bus as quickly as possible. They were very understanding. Whilst trying to gather everyone together from various toilet trips, conversations and celebrations I was still frantically trying to phone my Mum to find out what was happening. Eventually I got through and she told me Bee had been grumpy all morning, throwing up and had developed a sky-high temp of 39.8. My Mum had taken her to A&E at dinnertime and by the time I spoke to her at tea time they had been moved to the ward but were still waiting to see a doctor. So, major panic over. Bee wasn't at death's door and there hadn't been an accident but we were still terribly concerned as illness for Bee is always tough and that was one of the highest temps she'd had. We were so anxious to get back to her.


Finally, the gang together, we headed for the minibus. The pub we'd parked at had put on a BBQ and everyone was starving. Of course we hadn't told most people about Bee so they started disappearing towards the food and beer. I headed after them and explained the situation. Everyone was supportive and after a quick pint & bite and a short petrol stop we started the long trip back to Warrington. The journey, although traffic-free, just seemed to drag. With every passing minute I worried about how Bee was. Foz and I had agreed that I would be dropped at the hospital first, then everyone else and lastly he would go home to sort through the bags and pack some things for me in case Bee was in longer than overnight.


We finally arrived at the hospital. I must have looked a sight walking the long corridors with my blue and yellow tutu and face paint. The nurses all had a good giggle when I arrived at the ward, no mistaking where I'd been. The ward had been decorated in yellow and blue streamers and pictures of the Warrington Wolves badge, a lovely touch for the children who were too ill to be at the game. Bee was asleep. It was about 11pm but I'd hoped she'd be awake so I could have a cuddle, I was dying to hold her. My Mu, bless her heart, was sat quietly in the comfy chair, the lights dimmed, watching Bee sleep. I was so glad to see her. She told me that the doctor had still not been round even though they'd been on the ward since teatime. She went on to update me about the events of her day: Bee had taken ill mid-morning, coughing and vomiting and had developed a temp of 39.8, at which point she'd taken the decision to take Bee to A&E. After a few hours they had been transferred to the ward, where they were still waiting. By the time we'd swapped war stories & had a cuppa from the nurses it was nearing midnight. Ken had returned from dropping off the minibus passengers and was ready to take my Mum home, which just left me and a sleeping Bee. With this time to myself I was able to set up my camp bed on the floor and sneak a feed down Bee's gastrostomy tube. It wasn't long before the doctor appeared, finally. I reflected that it was a good job Bee wasn't at death's door. After an examination that woke her and made her cry the conclusion was just another viral infection, keep her dosed up on Calpol. How frustrating! We'd waited, or at least my Mum had, nearly 8 hours to see a doctor on the ward and the conclusion was nothing we couldn't have done at home. If we'd have been seen sooner we may well have been able to take Bee home, but as it was past midnight we were stuck. After the doctor had left I settled my tired girl back to sleep and attempted to get some myself. It was about 1am and it had been such an emotional day, from one extreme to the other. By this point I had been awake for approximately 20 hours and I was exhausted. I sent a quick text to Foz and my Mum to update them and was out like a light.


The following day started early, as it always does on the ward. The ward staff make no allowances for people sleeping and it gets noisy very early. Bee was already awake and waving her legs in the air. I got her up, fed and dressed then we sat and played while waiting for the doctor to come on rounds. Rounds are always variable, anything from first thing to after dinnertime. Normally I'm happy to wait, me and Bee just pass the time playing, singing songs and visiting the playroom but today, after 5 hours sleep, I was desperate to get home. Not to mention I was still stuck in my tutu and heels from the day before and getting some very strange looks off other parents on the ward. Finally, after what seemed like an age, the doctor arrived. We exchanged pleasantries, I explained my attire and talked her through the previous day and evening. The conclusion was exactly what I'd expected; just another virus. Take her home, keep her topped up with Calpol and bring her back should she deteriorate. As soon as the doctor left I sneaked a text to Foz to tell him the good news and started to gather together Bethany's belongings. I dressed her in her warmest clothes to keep the chilly air off, good old British summer, and strapped her in the pram. All loaded up we were ready to leave. I collected Bee's medicine, said goodbye to the nurses and we headed towards the back entrance to the hospital to phone a taxi. After a long and exhausting weekend me and my girl were finally going home to a warm house and a cup of tea! Bee was still poorly and this lasted a couple of days but she recovered nicely, as she always does and came back fighting.

And Back to Warrington General...

Another day, another trip to hospital, we'd been home from Alder Hey only 6 days. This time Warrington Hospital A&E for a very suspect rash on Bethany’s leg. I’d been for a trip to the Trafford Centre that morning with a good friend, Bethany’s uncle Stu and the three of us were having a lovely day out. We stopped at one of the many benches as it was dinnertime and I took Bee’s little combats off to access her peg for a tube feed. It was then I noticed the rash. Only on the lower of her right leg, it was blotchy with large spots and wasn’t like anything she’d had before. I ran my fingers over it and applied some pressure, it didn’t fade. I felt a ripple of concern but decided not to panic, Bee wasn’t ill at all, in fact she was in her usual great spirits and one of the first indicators that Bethany will be ill is her becoming subdued and irritable. We continued with our day and I resolved to take her immediately to A&E should the rash get any worse, otherwise we would take her at end of the day if it did not fade. We had some shopping to do: it was Foz’s birthday the following day and I wanted to get him some nice things.

Coming to the end of our trip Bethany’s rash had not faded, although she was still laughing and smiling for us. I decided to err on the side of caution and take her to A&E. Bethany does not deal well with respiratory infections, they hit her really hard and the dreaded M word would just be devastating for her. Stu took us home first to drop off our purchases and get together an overnight bag just in case, for some reason Bee’s trips to hospital are never short, then dropped us at the entrance to the hospital. In the bag I'd packed Foz's presents, wrapping paper, sellotape, scissors and his cards. Multi-tasking is something I'm getting good at!

Of course we’re not hugely familiar with A&E’s system and so we just went straight to the reception desk. Stood around for 5 minutes waiting for the person before us to be done then got our turn, only for the receptionist to tell us that we should have took a numbered ticket by the door. Bugger. Foz sat with Bee while I went and found the ticket thingy and took a number. Meanwhile the people behind us were now being seen to; it’s a good job Bee wasn’t in a critical condition. I’m sure the system works fine when A&E is crowded and the receptionists need some order but when there is a grand total of 5 in the waiting room it seems a little superfluous if not a complete waste of time. Finally, after being there for 20 minutes (if you can believe it) we were finally ushered forward by the receptionist. I gave all Bee’s details and a summary of the problem and we were pointed in the direction of the children’s A&E.

We traipsed down the corridor and were shown in to the waiting room. It had been painted since the last time we were there, fairly recently too as the room smelled of fresh paint. We sat and waited. After a while we had to strip Bethany for weighing. She chattered and smiled the whole time. It’s very hard to convince a doctor that your child is ill when they are so pleasant! After her weigh session we went back to the waiting room. I put her vest back on and wrapped her in a blanket, knowing that a doctor would only undress her again. After some more waiting a nurse finally came for us. We were shown into a cubicle, endured some more waiting and finally the doctor followed us in. He had a good look at the rash on Bethany’s leg, "hmmm-ed" and "ahhh-ed" for a few minutes, poked and prodded and generally gave it a through look. We waited with baited breath; “nope I’m not happy with that”. Not exactly the reaction we were looking for. We’d much rather have heard that we were being paranoid, obsessive and generally overreacting. But no, straight from the doctor’s mouth: there’s something not right. He quizzed us a little and we explained about the Kabuki Syndrome, about the weak immune system, about her susceptibility to respiratory infections... He listened and nodded a lot and finally concluded that he needed to get his colleague to come down from the ward to have a look. Great, more waiting. This time with the added stress that it was more than just paranoia, there might be something seriously wrong. When the doctor left to make the call it all got a bit much for me and I had a good cry. Meningitis. Bethany might have meningitis. I couldn’t believe it. The most dreaded of all childhood illnesses, the one we’d do anything to avoid. Bethany might actually have it. Even healthy children die from meningitis. What about my baby? My poor baby with the weak immune system. How would she fight it? During the wait we overheard a nurse talking about a Swine Flu patient a couple of cubicles down. Great. Not only suspected Meningitis but exposure to Swine Flu. What a wonderful evening. I’d been avoiding Tiny Stars (our mum and baby group) since the Swine Flu furore as Bethany catches things so easily and here we were, exposing her anyway.

The doctor came back and told us his colleague would be down shortly and in the meantime he was going to take some blood tests, obviously the main one being a meningitis test and the others for various things. Over came the dreaded trolley and out came the needles. Bethany is notoriously difficult to get blood from. Her veins just collapse every time. I’ve not met a single medical professional that has been able to do it first time. Normally they put numbing cream on both arms, both hands and both feet for good measure. At least two of those places are usually attempted at. This time the doctor insisted there was no time for numbing cream (it takes half an hour to work) and so we steeled ourselves for the trauma to come. Unfortunately the cot was against a wall so once the doctor and a nurse were leaning over Bee there wasn’t any space for Foz or myself to get near to comfort her.

The first arm. After much digging around with his needle and screaming from Bethany, the doctor decided that there was no suitable vein there. Out it came and he tried a second place in the same arm. He was not gentle. By this time the tears were streaming and I was doing my very best not to break down and sob. Listening to her scream and seeing her being held down by a nurse was awful. Nothing in the second place either.

The second arm. No luck. Luckily his beeper beeped and he went away to answer the call. I picked up my distraught baby and tried to calm her down, dreading the doctor’s return. Our second lucky break came when his colleague showed up. He came to look at Bethany and confirmed what the first doctor had said. It looked like a meningitis rash but as Bethany was not ill, might not be. We were to be admitted to the ward overnight for some monitoring and to wait for the results of the blood test. I knew that overnight bag had been a good idea. Unfortunately they still needed the blood from Bethany, yet our third lucky break came when the second doctor, who had a much nicer bedside manner, took over. Thank goodness he finally managed to get some blood from Bethany’s second arm and was much gentler about it. They took the blood away and we waited for a bed on the ward to be free. Finally the nurse took us down. It was nice to see all the nurses again, most of them remembered us from our stay in May when Bethany had bronchiolitis. We ended up in a room we’d been in before, only this time I had a camp bed on the floor: no more sleeping in the chair! Bliss!

Various staff came in and out through the evening. Foz left fairly early as he relies on buses and they are very infrequent after a certain time. Which left me and Bee, who of course wouldn't sleep a wink. The naughty child. The doctor informed me that he'd need more blood from Bethany but this time they would use the numbing cream to try and ease the stress for her. It was put on and covered in plasters to stop it coming off. Unfortunately Bethany picked this time to decide she was reallt tired. She didn't sleep long before the doctor was ready to come and take some more blood. Thankfully this time was as stressful although Bee did still scream and scream. The doctor had no more luck getting the blood from her and it was decided that she had had enough for one evening, no more tests. I was so grateful, my girl needed some rest. Of course by this time she was exhausted and it wasn't long before she was asleep. I placed her in the cot and tucked her in.

The doctor came to see me as the first of Bee's blood tests had come back. It wasn't the meningitis test, which would take a couple of days, but it was an 'infection marker'. As this test showed Bee had no infection the doctor could fairly confidently say that it wasn't meningitis. Bethany was just not showing any other symptoms except the rash, which was still there. If she was still well in herself the following day we could go home. Joy! Only an overnight stay! I could scarcely believe our luck! It meant although we wouldn't be with Foz on the morning of his birthday we would at least still get home that day. With no more news coming that night I settled on to the camp bed to wrap Foz's presents and write out his cards.

The following morning I made a quick trip down to the hospital shop to buy some balloons, the plan being to decorate the room. Through everything it was still important to remember it was Foz's birthday. I blew them all up and sellotaped them round the room, placing Foz's presents and cards on the table. He came to join us towards dinnertime and we had a mini-birthday in Bethany's hospital room. Later that afternoon we were able to go home. Joy. Another scare but thankfully nowhere near as bad as we feared. Still no real explanation for the rash, the doctors put it down to something viral. The meningitis test came nack negative a few days later. We were in the clear.

The Big One

June brought the biggest development in Bethany's life to date; her diagnosis.

Our first genetic appointment was on the 24th June. We'd been warned, obviously, by various medical professionals that Bee may have a disorder of some kind so we felt we were prepared for anything they might tell us. Plus we knew that the initial appointment was unlikely to yield any real answers as it would just be information-gathering and examinations. It would probably be months before we made any headway with a diagnosis.

Meeting the geneticist wasn't nearly as scary as we had imagined. She was actually really friendly and reassuring, not the severe-looking doctor with the stern manner that we were expecting. Still though, that did little to calm our nerves. The outcome of these meetings would have a huge impact on all of our lives.

My Mum had accompanied us to the appointment, everyone else was in work. On arriving at the genetics department we sat in a small waiting room and tried to guess which Bethany's doctor would be from the photos on the staff 'who's who' board. After a short wait we were met by Bethany's doctor and the genetic counsellor assigned to our case and led from the department and back the way we had came to a private room just off the main corridor. It was a lovely room, nicely decorated with fake flowers and comfortable chairs. I couldn't get the thought out of my head that it looked like a bereavement room. All through the appointment I kept wondering to myself how many families had been in this room after learning their child had died. A sombre thought.

The geneticist asked us a lot of questions, not only about Bethany but about the pregnancy and birth too. We'd repeated the answers to these questions so exhaustively to so many doctors that I could almost answer in my sleep. She then asked if I could lie Bethany down on my knee while she gave her an examination. Nothing intrusive, just a closer look at some of Bee's features and a wiggle of her limbs, that kind of thing. As Bee was due to be going under anaesthetic two days later for a endoscopy it was decided that blood would be taken then instead of putting her through the trauma of it during the appointment. I was glad about that, after waiting 9 months another 2 days would not make a difference. Bethany is notoriously hard to get blood from, I've never once met a doctor that can do it on the first go and it's such a stressful experience for her. She screams and screams usually.

Coming to the end of the appointment we asked the geneticist if there was anything she could think of that Bethany's symptoms pointed to. We've always found in the past that doctors are less than forthcoming about possible diagnosis, whether that be something genetic or something as simple as a viral infection. It's almost as if the litigation culture we live in makes doctors afraid to hazard an opinion before there's any hard evidencein case they are wrong and we decide to sue. Not that we ever would of course. It can be frustrating as it leaves you clueless and guessing for much longer that is strictlynecessary . We found Bee's geneticist refreshingly honest and told us there was only one thing that jumped out at her from her examination of Bethany. She warned us that not all genetic conditions can be found using blood testing, some require a team of geneticists to examine the patient and make an informed decision about a diagnosis. Although she told us not to, as it was just an educated guess, we could help but jump straight on theinternet when we got home to read all about the syndrome she had suggested.

Two days later, on the 26th, Bethany was booked in for an endoscopy. The procedure involved having a camera down her throat to see if we could make some headway as to why Bethany struggles with swallowing and 'pools' thesaliva she produces in the back of her throat. As she has always had trouble eating, breathing and swallowing this was quite an important day for us, we really hoped this procedure would finally bring us some sort of answers. Before the op we informed the surgeon and the anaesthetist that Bethany has oxygen desaturations in her sleep and it was decided that it was best to keep her in overnight for some monitoring, just to be on the safe side. Carrying Bethany down to the surgery and having to watch as they put her to sleep was such a difficult experience. She cried as they held the mask to her face and I wanted nothing more than to pick her up, cuddle her and make the horrible doctors go away. But I had to be content with stroking her cheek and trying to whisper comforting words in her ear while the staff busied around me and generally made me feel like I was in the way. She was stillwhimpering as I was ushered out of the room, crying and clutching her dummy and teddy like a talisman. Foz was at the surgery doors, ready to receive me from the accompanying nurse. We headed back to the ward to collect my Mum and go to the cafe to wait with a fortifying cup of tea.

Bethany was gone for approximately 20 minutes. That's only a half of a half of our beloved RL but that day it seemed to go on and on. As we were standing and making to head back to the ward to finish our wait the nurse appeared in the cafe to tell us Bee was finished and ready to be collected.Foz and my Mum waited at the doors while I went in to collect her. She was tightly wrapped in a blanket and crying weakly as a nurse cuddled her. I took her in my arms while the nurse explained that everything had gone well and the surgeon would come up to the ward in a little while to go through the surgery with us. I gave Bethany the dummy we'd brought with us and took her to her waiting Daddy and Grandma.

We were taken to ward L2, the ENT ward and shown to Bethany's allocated cot. She was hooked up to a sats monitor and we settled ourselves down to wait for the surgeon, who arrived a lot quicker than I was expecting. He found during the op some skin was a little tight around one of the tubes in Bethany's throat so he snipped it to loosen it. Blood was also taken for the genetic testing. Other than that everything had looked fine. He gave us a sheet of A4 paper with 3 camera shots of Bethany's throat. One before the procedure, one after the snip and the third showing the entrance to her lungs which was nice and wide, so not causing her oxygendesaturations . We were relieved all had gone well but concerned that we'd really had no answers from the experience. However, that was not the surgeon's fault. He'd been friendly, reassuring and attentive and we were very grateful to him.

That evening Bee seemed ok, if a little irritable. She had some oxygen but hadn't seemed to suffer any great effects from the whole thing. The dietitian came to see us as Bethany has Failure to Thrive, a term I'm sure was invented just to make parents feel bad, and said she was unhappy with Bethany's weight. Great. So were we. Hopefully she would now try and help us sort it out. The downside? We'd be stayingin a little longer for some tests. Not that that was anything new to us, we were getting quite used to hospital time. It gets lonely and very boring but Bee takes it all in her stride, charming the nurses left, right and center. The following couple of days Bee seemed to take a turn for the worse and couldn't keep anything down. As always when this happens, she started to lose weight so thedietitian recommended (and we agreed) that Bee should have an NG tube fitted up her nose to be tube-fed. Of course we were old-hands at the NG , Bethany had had one in special care when she was born. But then, unlike now, she was too tiny to know anything about it. Now Bee has an inquisitive nature and littlegraspy hands, not a good combination with an NG . By the time we'd finished taping it securely to her face, to stop the stress of her pulling it out and having to have it re-fitted, she looked like she was dressed for a Halloween party. Cute as ever though. However uncomfortable andinconvenient the NG was it worked, Bethany stopped vomiting so frequently and started to slowly gain weight.

A few days in she was given a sats study, which isn't as academic and complicated as it sounds. She was attached to a sats monitor that recorded her oxygen saturation through the night 'in air', meaning without any oxygen assistance. It was then sent back to the respiratory team the following morning to be downloaded and looked at. The goal was to remain above 95% oxygen through the night. On a good night Bee sits between 85-90%. On a bad night she can drop as low as 78% and her lips go blue. It's been a source of constant worry for us. Every time we have a hospital stay she does this yet we're always sent home and told "not to worry" and "maybe it's normal for her". The sats study was well overdue. When the test came back the following day she had (unsurprisingly) failed it and from that day on would sleep in 0.5l of oxygen.

Now to tackle her feeding problems. Bee has always struggled with feeding, right from her birth. She coughs, chokes and eventually vomits when taking milk from a bottle. Of course health professionals had given us a variety of reasons for it from reflux to a fussy baby. None of them sat right. On the request of thedietitian the speech therapist came to see us. She asked if we'd like a video fluroscopy for Bethany, which sounded very medical and complicated. She explained it was an x-ray video of Bethany eating First solids, then thickened liquids and finally regular liquid. Hopefully this would pinpoint where Bee is having a problem. I agreed straightaway. It was booked for the followingFriday, a full week after Bee was admitted.

When Friday rolled around I had to starve Bethany before to appointment, to make sure she didn't refuse the food. I dressed her in a sleep suit, placed her in the pram and headed down to the x-ray and ultrasound department. The set-up was nothing like I had imagined. There was a screen set up with a chair placed up against it. In the chair was a baby seat, ready for Bee to sit in. Facing the screen was a large x-ray camera. All very complicated looking. I placed Bee in the chair and strapped her in. All the food from solid to liquid was a pure white colour. Not the almost translucent off-white of food and juice but pure white, almost like paint. I started with the solid and all was well so moved on to the thickened liquid. I worried the whole time that she wouldn't struggle at all and the test would reveal nothing. But she didn't let me down and started to cough. I stopped and looked at the speech therapist for guidance but she was in whispered conversation with her colleague, which I caught the tail end of: "...coughs and self-corrects." She caught me looking and tld me to move on to the plain liquid. True to form Bee didn't let me down. She coughed and spluttered like a trooper. It sounds awful to be pleased about it but I needed the speech therapist to see what Bee goes through every day just to eat. She was studying the monitor when Bee started to cough and immediately told me to stop.

The study showed that Bethany is aspirating food into her lungs, meaning that when she swallows she's allowing a little bit of each swallow to go the wrong way and pool in her lungs. This is what's making her cough and choke. With solid food, as it's slow moving, Bee has a cough and it comes back up and heads the right way. As liquid moves so quickly it's already in her lungs before Bee even coughs, which obviously is not good. The speech therapist suggested that the best course of action would be to give Bethany solids as normal but to have top-up milk feeds via a gastrostomy, which would require a procedure to be fitted. We were devestated. The thought that your child needs a tube just to eat is awful. It's such a basic function of life but Bee's body just does not co-operate with her. After a lot of heart-to-heart and discussion it was agreed: Bethany had her gastrostomy on the 15th July.

Once the gastrostomy was fitted there was nothing keeping us at Alder Hey, we'd been in just shy of 3 weeks and I was really ready to come home. However Bee had a bad few days after the op. She cried most of the time and vomited a lot. The doctors wanted to be sure she was coping with it before sending her home. We finally got the ok 3 days later, on the 18th and my good friend Stu came to collect us. We were finally going home, 3 weeks and 1 day after being admitted.


Not before we'd had one more piece of news though: Bethany's genetic diagnosis. About a week after being admitted I was sitting in Bethany's room. She was sleeping and I was reading a magazine. There was a light knock at the door and 6 people, plus Bee's shift nurse all walked in. I recognised Bee's geneticist and the genetics lady that had been in her CranioFacial appointment. The rest introducd themselves as members of the genetics team and asked if they could have a look at Bethany. I agreed of course and they all gathered around the bed. Bee's geneticist stood back and listed the symptoms of the syndrome that she'd found in Bee. They all leaned over and one had a good poke and prod and woke her up. there was a lot of "hmmmmm" and "aaaahhhh" noises and long medical terms I didn't understand. Bee's geneticist asked me if we'd read about the syndrome when we went home, I told her that we had and we were pretty convinced she'd made the correct diagnosis. The other geneticists all nodded in agreement, although nobody came right out and said it. I had to ask: " so are you telling me Bethany has this syndrome?" The response? "I think we can safely make that diagnosis". And with that they all left and we were alone. Alone but with an answer. Bethany has Kabuki Syndrome. I sat and cried. Reading about it on the web and recognising Bethany in the descriptions isn't the same as being told, for certain, your child has a genetic syndrome. I was not as prepared for those words as I thought I was going to be. It's a difficult process, learning your child is technically disabled and may never lead a full and normal life. It's almost like a grieving process. When you're pregnant you have so many hopes and dreams for you child, the life they'll lead, the things they'll do. To find out your child may never do any of those things, or even have a decent quality of life, was devestating. Then came the guilt. How could I feel sorry for Bethany and ourselves when feeling like that surely meant I wished my child was 'normal', which of course I would never wish bethany was anything other than herself. Without the Kabuki Syndrome(KS) we might not have the beautiful little girl we've got, but a different child. It's a complicated set of emotions and we're still feeling them. The grief and the guilt.

Still, there was no denying it. When reading through the web information we'd identified at least 22 symptoms that Bethany displayed of Kabuki Syndrome. The geneticist told us that 5 symptoms is a lot. Some of the more prevalent features that Bee has:

• Dysmorphic features
• Specific eye shape
• Hypotonia
• Failure to thrive
• Developmental delay
• High arched or cleft palate
• Long eyelashed
• Down-turned mouth
• Micrognathia (small mouth)
  
• Microcelephaly (small head)
• Clindactyl
• Feeding difficulties
• Breathing difficulties
• Blue sclerae (white part of eye)
• Malformed and prominent ears
• Prominent (pointy) finger and toe pads

There are many more and there are many that don't appear until later childhood into adulthood so we won't know how it will affect Bee completely until she is older. Thankfully she seems to have been spared the most severe of the symptoms of KS: heart and kidney defects and skeletal abnormalities. As we can hope is that KS also spares her the more severe mental symptoms like learning disabilities. But whatever happens Bethany is our whole world. Getting the diagnosis has made us even more protective of her and determined to give her a great life as she may not be able to go out and do it for herself.