A Mixed Bag of Fortunes

We had a mixed day on the 24th August. Bethany had been off her food for just over a week, gagging and coughing when swallowing. This was totally out of character for her, she loves her solid food. Difficulty with feeding is par for the course with Kabuki Syndrome so it wasn't a big surprise but still disappointing as Bethany had been doing so well. That afternoon brought an appointment with the speech therapist, which was well-timed considering we were really ready for the appointment. Claire listened to Bethany's thraot with a stethescope while she had some solid food and told me that Bethany wasn't swallowing very well and the food was hanging around in the back of her throat. Her suggestion was to keep Bethany nil-by-mouth for a week and feed her entirely through her gastrostomy tube. Bethany does have these episodes, she can go through phases of doing really well with her feeding and phases of doing not so well. Although being tube fed felt like a huge backwards step we're hopeful it's just a minor set-back and she will get back to normal soon. We've worked really hard on Bethany's feeding and fought with more than one professional to resist complete tube feeding. So I came away from the CDC feeling fairly disillusioned. My beautiful girl of course was her same happy, smiling self. Nothing fazes her.

Returning home I made my Mum and I a cuppa and some dinner while Bee had a nap. Recently I've been practising clapping and sitting up with Bee, she's not really getting the clapping at all but the sitting is coming along nicely. Although she hadn't actually done it yet her torso seemed to be getting sturdier and less floppy. plus the main thing is Bee wants to sit up. When on her back she strains to lift her head and shoulders from the floor and can get very frustrated with her inability to move.

Bethany slept for about an hour when we got back and when she awoke she spent some time playing with her Grandma while I did some mundane house jobs, the type that never go away, like washing and the dishes. We've been using Bee's Blossom Farm Sit-Me-Up Cosy for sitting practise, it gives her something to fall back on to, which she does. A lot. Of course we thought this particular afternoon would be no different. How wrong we were! Bethany sat. She actually sat. Unassissted. For almost a minute. I could have cried, what an achievement! I'd been starting to think that she was never going to sit but there she was, legs splayed and looking almost as surprised as we were. Then, of course, the inevitable happened: she leaned too far one way and down she went. I expected her to cry, after all it was a new experience and Bee can suffer from a lack of confidence with new things, but no. She handled sitting the same way she's handled everything else so far: with aplomb. Thriled beyond words I sat her up to try again, just to be sure it had happened and it wasn't a fluke. But there she was, sitting up again and starting to look very pleased by all the attention and clapping being bestowed upon her.

After a few attempts Bee started to get confident and decided she wanted to have a good rock back and forth, which is something she loves to do. And that is her downfall. She's just not sturdy enough to do that, but of course there's no explaining that to her. Since that afternoon we've kept working on the sitting and it's coming along nicely. We're trying to encourage her to learn how to catch herself now, which will be the next stage.

These Boots Were Made For Walking...

We've been having some progress of late. We thrill in every tiny victory of Bethany's and this one, although small, is a step (excuse the pun) in the right direction. Bethany has never wanted to place her feet on the floor. Whereas other babies, even from a very young age, will push down with their legs when placed in a standing position, Bethany never will. She draws her legs up and won't put her feet on the floor, much less bear weight on them.


Whilst reading about Kabuki Syndrome I discovered this is fairly normal for KS kids and is known as sensory integration dysfunction. To combat it we've tried to ensure that Bethany constantly has socks and shoes on and spends a good amount of time each day in her Jumperoo bouncer.


Finally, after 8 months of persevering, Bethany is starting to push down for anything up to a minute or so at a time when you hold her standing. That is such progress for her and we're thrilled. Not that I needed an excuse to go and buy more shoes...

Money, Money, Money

While pregnant we bought a lovely reclining bath chair for Bethany as bathing a slippery newborn is a challenge to say the least. Just recently she has begun to grow out of it. Although weight-wise she fits just fine, in length she is within the normal range so her legs have been sticking off the end and her head sits above the cushion. We needed something new. Of course as Bee has gotten bigger she’s also gotten wrigglier and trying to bath her one handed whilst holding her still with the other is just impossible so a chair of some kind is necessary. Her hypotonia means Bee can’t sit up yet so many bath chairs designed for older children just aren’t suitable for her. We tried the Aqua pod at Mothercare and she just tipped to the side as the support is only at the front and back. The foam support was not conductive to encouraging Bee to splash and enjoy the water. The Comfort Bath Support was too small. We tried the expensive-sounding, ergonomically-shaped bath chair – too small, which is such a shame as a larger size would have been the exact thing we were looking for. Feeling disheartened I started searching on the internet for something more specialised. Not knowing exactly how to phrase my request on Google I settled for ‘special needs bath chair’ hoping it would bring me some useful hits. Now certain things in life are inevitably expensive. You add the words ‘wedding’ or ‘baby’ in front of anything and it’s a certainty that the price will jump far beyond what the product or service is actually worth. I was shocked when I realised this rule of thumb also seems to apply anything with ‘special needs’ in the title. How are regular families supposed to adequately provide for their special needs child when everything is way beyond the budget of most regular families? I was shocked by the prices companies were charging, even for the simplest of acrylic-shaped chairs. I wasn’t looking for anything spectacular like a lift system, just a simple seat that would allow Bee to sit in the bath comfortably and be able to splash and play like normal children whilst be safe and allow Foz and myself to use both hands to bath her. Talk about gap in the market. There is just no middle ground. It’s either newborn support or full-on special needs equipment, starting at £225. We desperately needed a solution. I went through the Mothercare and Babies’r’Us websites again, this time looking for a chair that I could possibly adapt to be suitable. The only thing I found was a swivel bath chair. Possibly too big for Bee and designed for babies who can sit up but it was the closest thing to suitable that we had found under £200! Plus it was only a tenner. Bargain!

So. A trip to Babies’r’us beckoned. We had a bath seat to buy, the new highchair we’d picked and, if Bee was lucky, maybe a new toy! I’d already decided on picking up a new tummy time mat to try and help Bethany as she still does not like being on her tummy and won’t roll, although she has done it a handful of times. Uncle Stu took us down, where we met up with Bee’s Grandma (my Mum) and her NannyGranny Jan, my Mum’s best friend. That’s the lovely thing about the supportive network we have around us. Everyone loves Bethany so much and I couldn’t ask for better family and friends. We’re very lucky that people want to be involved in her life so much. So after a play in the swing and a look at the toys we headed to the checkouts, bath seat and new play mat in the trolley and highchair ticket in hand. I paid the cashier, waited for the highchair at the collection point and then we headed home. I couldn’t wait to try out Bee’s new chair, both bath and high! Unfortunately I had to wait for Foz to come home to try out either thing! The minute he walked through the door I ambushed him to watch Bee while I played with the new highchair. Out of the box, instructions discarded, I managed to knock it together. Who says men are the only ones who don’t like instructions??

It wasn’t long before we had Bethany sat in it. What a difference! We’d been very specific about a highchair: it had to recline as Bethany can’t sit up and we wanted it height adjustable as we don’t have a dining room table to sit so we needed it sofa height! It’s perfect, perfect, perfect. In all honesty Bethany doesn’t even need the recliner as she sits up very well without needing to be propped, all I use it for is if she falls asleep. Apart from making feeding time so much easier it also assists Bethany with play. Being able to sit to play is a real bonus and she’s now making strides and achieving goals. She bangs on the tray and interacts with the toys in front of her, something she struggles with when lay on the floor. So all-in-all a great buy! Worth every penny of the £90 it cost.

And so to the bath chair: Foz’s normally bathes Bee in the evenings, that his one-on-one time with her and they both really enjoy it. He took Bethany upstairs to get her ready and I followed with the chair to run the bath, camera in hand. We sat her in it and at first all seemed well. I was really pleased with the chair, it seemed to be exactly what we’d needed. I took some pictures and headed downstairs to let Foz finish off

Once Bee was washed, dried and in bed he came down to join me. As it turns out the bath chair isn't so suitable after all. As she can't sit unaided Bee slips forward in it and her lady bits are squashed uncomfortably against the leg bar. Not the ideal situation. But how to fix it? It was the only chair we'd found that even remotely fit her needs that wasn't upwards of £200.

My Mum had the answer: lagging. Honestly, lagging. The foam stuff you put around pipes. When all else fails see what you can knock together. my Mum brought us some lagging, about 2m of the stuff. B&Q don't sell it in any smaller lengths! I fashioned some smaller lengths to fit around the leg bar in the center and the top bar on either side so she didn't hurt her knees when kicking. It worked. Although it was a constant battle to keep the lagging on as it has a tendancy to float away when Bee knocked it off, it did the job.

Just recently, when on a Cheshire Oaks shopping trip with Bee's uncle Stu we headed into Mamas and Papas. I've never been in one before, we don't have one locally and I know they are really overpriced, the Waitrose of baby shops if you like, but I wanted a cosytoes as the weather is starting to turn and our pram is a Mamas and Papas one. Whilst having a browse I spotted some bath chairs that looked exactly like the expensive-sounding, ergonomically-shaped bath chair I'd originally seen in Mothercare, that would have been perfect except for the small size. This one, however, looked bigger. I got Bee out of the pram and placed her in one. Perfect! It won't fit her for long but it certainly fits her now and was only £18. Bargain to boot! I took it straight to the till. So our bathing dilemma is solved for now. Hopefully Bee will be sitting unaided soon so we won't need to struggle for a bath chair any longer.

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.

Our First Day at Alder Hey

After our discharge from Warrington General in May after Bethany's bout with bronchiolitis, we had Alder Hey to look forward to. A very lovely doctor on B11 had managed to get our November Genetics appointment moved forward to the end of June. Lovely. That took away some of the stress of waiting. Of course we had more than just genetics to contend with; there was also Craniofacial and Cleft Palate. Fairly overwhelming.

We approached these appointments almost in awe. Almost as if Alder Hey Children's hospital was a magical place that would diagnose and cure Bee on the first day. Everything would be solved the minute we stepped through the door. Of course life isn't like that and Bethany's problems are far more complicated. Rationally we knew there was probably only a limited amount we would discover in the first set of appointments and even less that would be done. Hospital waiting lists are notoriously long and Alder Hey, as the regional children's hospital, is no different.

Our first appointments were with Craniofacial and Cleft Palate, both on the same day, which was handy as we live aways from the hospital and don't drive. We both my Mum and Foz's Mum along as of course they were concerned about Bee and wanted to be a part of things. I was extremely glad in the end as it was a very intimidating experience.

Craniofacial was first. Of course I'd been so focused on Bethany's appointment that I hadn't stopped to consider we would be encountering other poorly children in the hospital so I was completely unprepared for some of the things I saw walking the corridors at Alder Hey. It made me very grateful that Bethany doesn't have things like cancer, facial disfigurement and worse. When our appointment time came we were ushered into a room with two chairs sat against a wall and were motioned to take them. Facing us, along the opposite wall, were nine (yes nine) doctors and health professions. All looking very serious and sitting in complete silence. It was like Dragon's Den, only worse. The lead doctor introduced himself as a brain surgeon (mucho impressed) and then introduced the rest of the room. There were other Craniofacial staff there, someone from Genetics, someone from Cleft Palate, a Maxilliofacial surgeon, a speech therapist and various others with various positions within the hospital. Mr. Brain Surgeon was very nice, very friendly and explained what he was doing as he was doing it. He had a feel of Bethany's skull and we were asked an awful lot of questions about Bee's birth and medical history by various people in the room. Others held whispered conversations behind their hands whilst staring at Bee in what I think they thought was a surreptitious fashion. I wanted to tell them all that if they had something to say about Bee they should have the courtesy to say it aloud but I restrained myself, they were only doing their job.

In the end the diagnosis was no Craniosynostosis and no abnormal skull. Her head is fine, albeit a little flat at the back from spending so much time lying down. But what good news! I suddenly felt a ton weight lifting from my shoulders. We'd been so worried about brain damage, possibilities of surgery, all kinds. It was a tempered happiness though as we knew there was more to come, we still had Genetics at the end of the month. Whilst we were in the appointment we explained how Bethany doesn't seem to gain weight, no matter what we try. The Genetics lady in the room managed to book us in for an ultrasound to check out Bethany's bladder and kidneys that afternoon, just to be safe.

Next was the Cleft Palate department, we were due to see the surgeon. He had a good look in Bethany's mouth and asked some questions about her feeding etc. The decision was that Bethany was managing ok and an operation may not do her any good as her hypotonia could be the reason for her swallowing problems. Another appointment was scheduled for December to see if the possible cleft is affecting her developing speech. Children with Submucous clefts can often develop nasal-sounding speech. If it turns out it is they will probably do an operation.

So all-in-all it was a fairly productive first day at Alder Hey although we're both starting to feel a little frustrated. We know there is something the matter with Bethany but don't seem to be getting any further to a proper diagnosis or treatment of any kind. I think Genetics at the end of the month is going to bring the real answers, although that in itself could take a long time. Also to look forward to we had ENT the following week, which was the result of our referral from Warrington ENT department. An awful lot of appointments, in June we had 12 split Warrington Hospital, Alder Hey and the local CDC but we would do whatever it takes to get Bethany the help she needs.