Bee's Dictionary Updated

Bee has a handful of new words, our favourite being 'knee'. She likes to come over, point at your lap and say "mama knee". Who can resist!?

Our word total is now up to 38, a massive achievement! 

*NEW*

Knee                                Knee

Nappy                              Da-pee

Shoes                              Sues

Boots                               Booo

Word                                Sounds Like

Yes                                  Yeah

No                                    Naow

Ta                                    Gaa

Thank you                         Guy-or / Guy-oo

Car                                  Bum bum

Ball                                  A-bawl

Monkey                             Ooo ooo

All gone                            Uh gnnn

Baby                                Ba ba / Baby

Hello                                Hey-yo / Hiya

Bye bye                           A-bye / Be bye

Dog                                 Uff uff
Food                                Num nums
More                                Moh

Bubbles                            Bu-bull

Door                                Dior

Up                                   Up

Keys                                Daa

Bag                                 Ba

Play-Doh                          Bawl

Bed                                 Ba

Chair                               Ka

Book                               Booo

Outside                           A-hide

Boat                               Ba

Me                                 Me

Pram                              Bam

People                             Sounds Like

Mummy                            Mama

Daddy                              Da-de / de-de

Grandma                          Gam-ma / Gram

Great-Grandma                  Noo noo
Great-Grandad                  Dee Dee
Clare                               A-Ka
Gem                                Dem


Makaton Signs
Yes
No
More
Book
Finished
Bubbles
Bed
Please
Thank you
Mr Tumble 

Who've also had another wonderful language development: Bee has gone from saying 'baba' to 'baby'! We're so thrilled with that as it's a real progression for her. Well done Bee!

International Kabuki Syndrome Awareness Day

Today is International Kabuki Syndrome Awareness Day, please help us spread the word.You can use this image on your Facebook/blog page or share the link to our UK resource, Kabuki Stars:
http://www.kabuki-syndrome.co.uk/

Alternatively please have a look at our friends around the world:
 

Supporting Aussie Kids with Kabuki Syndrome (SAKKS) - http://www.sakks.org/

Kabuki Syndrome Network (Canada) - http://kabukisyndrome.com/

Association Syndrome Kabuki (France) - http://asso.orpha.net/ASK/cgi-bin/

Japanese Kabuki Site - http://www003.upp.so-net.ne.jp/kabuki_j/

Kabuki Synrome Network (The Netherlands) - http://www.kabukisyndroom.nl/

A special 'HAPPY KABUKI DAY' to all the special KS families out there, I hope have a special time with your loved ones.

Partay!

Three has come around so quickly, it almost hit us by surprise. Practically overnight our baby girl has turned into a bright, happy, cheeky, demanding, crafty and tantrum-throwing toddler. Her understanding, speech and mobility is improving all the time and we're confident that it won't be much longer before she's catching her peers.

 
We wanted to spend Bee's birthday doing something she would love, which meant soft play, soft play and more soft play! We chose a sensory play centre about 40 minutes away from us. The pictures on the website looked really good and (as we wanted to take advantage of the last of this summer's sunshine) we planned a picnic in a nearby park for afterwards. So with my mum, brother in tow we set out to meet Clare & Isla.

Photo courtesy of http://www.dfosterphotography.com/index.html

Unfortunately the soft play we'd chosen wasn't as good as the website suggested and it was a long way to go for something that we could have done on our doorstep but our girls had a great time anyway. 

Photo courtesy of http://www.flickr.com/photos/gimbulate

 After an exhausting play session (for the adults!) and a slight detour (thanks sat nav!) we went for dinner at a local park. Thankfully the sun was shining and we found a nice shady place under a tree and by a lake. We munched on sandwiches, crisps, cakes and chocolate.... with some token apple slices and grapes thrown in.

Photo courtesy of http://www.dfosterphotography.com/index.html

 

 

 


 
Each year we have promised ourselves that the next birthday Bee will be able to have some of her own birthday cake. And this year we were finally able to keep that promise! On her third birthday Bee had her first slice of birthday cake!

And it went down very well!

Especially the icing! I think my girl has a sweet tooth!

Isla was also very impressed with her slice of cake and even had a good go at helping Bee with hers. Then they both had a go at each other's soggy leftovers. Lovely!

 

 We finished the afternoon with a walk through the park, Bee on her walker and Isla with Bee's new baby pram. Both girls are doing so well with their mobility. At one stage I could never have imagined walking through a park with my girl walking next to me.

To see her now, so independent and confident, makes me marvel at her strength of character. She inspires me every single day.

Update!

I must apologise for being such a lax blogger of late, I started researching my family tree and have found it so absorbing.

Bee has made some good progress of late. She has a new word: please, which sounds like "pease", or sometimes "pease-a" and has also learn the Makaton sign to go with it. Bee has also started to copy words and phrases she hears us say. Whilst trying to encourage Bee to say "Gem, where are you?" she managed "Dem, ee a ooo". Wonderful!

We're hitting a little snag with her language development though, as we've discovered Bee is using similar sounds for different words. For example, "ba" or "boor" can mean ball, bag, bed or book. Sometimes it takes a little detective work to find what she actually means and Bee can get frustrated. It's something I hope to raise with her SLT at our next appointment.

Physically Bee continues to develop slowly but surely. Still crawling and cruising strongly and now starting to take small, unaided steps away from the furniture. Every day we see Bee get a little bit further each time, although I think walking is still a long way off, her balance is quite poor. Her longest walk has been 6 steps before she lost her balance and fell, a huge achievement!

We're still waiting for the walker from the physiotherapist. I've rang twice and left messages but no reply or returned phone call yet. Monday will bring yet another attempt and each time I'm getting more irate at the lack of communication. Even just a polite "not in stock yet" would suffice, just so I know what's happening. Each day that passes is another day of restrictions and limited ventures.

Talking of restrictions: Bee is reaching an age where it's time to bake cakes and help cook the tea, yet she's way off being able to stand on a chair at the kitchen units. Her lack of balance and co-ordination just wouldn't allow her to do that safely, may never allow her to do that safely. We've been looking for something to solve our problem and came across this:

Little Helper FunPod

It's expensive, £112 on the official website and the cheapest I can find is Amazon at £95. They are supposed to suit ages 1-6 years and, with Bee being a little on the small side for her age and only 2-years-old, I think we'd get good value-for-money. I'd be interested to know if anyone has tried a similar product?

Enjoying some of her beloved Pom Bears

On the food front Bee continues to make small progress. Her ability to bite and chew food is slowly getting better although she still only consumes tiny amounts. We're certainly a long way from having the mic-key button removed. Bee still refuses to touch anything 'messy', much less eat it. So we're sticking to solids for now, despite the SLT's insistence that we start with puree. She doesn't have to feed Bee day-in-and-day-out and Bee enjoys her solids *a lot*.

We've been a little quiet on the appointments front recently but we have Occupational Therapy coming up on Tuesday. I'm not looking forward to it. Since discovering that the OT service in Warrington does not provide one-on-one help for children with sensory needs I've not felt very charitable towards Bee's therapist. I know it isn't her fault, decisions like that happen way above her, but she is the face of a service that is letting us down and I'm still angry.

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.

Hello Again B11 Cubicles!

After being discharge from hospital 2 months passed fairly uneventfully. We still struggled with Bethany's feeding, she would cry and choke on the milk, and we were always told she was fine and it was normal. We were once told she was a 'fussy' baby if you can believe it. Still we struggled on with the feeding and Bee struggled on with the weight gain. She cried most of the time and life got very stressful. By the time our second hospital stay rolled around in May Bee still only weighed 12lbs at 7 months old.

Bethany started with a cough, high temperature and vomiting which meant she was getting down very little food. For a baby of Bethany's weight that was worrying so I made an emergency appointment at the GP's surgery. I took her down and she was examined. After listening to her chest the Doctor made a few notes on the records in front of him. Out of concern of looking like a paranoid parent, which was how I'd so often been treated, I broke the silence with: "I just wanted to get her checked out, I was worried about the cough and her throwing up. She's so little to begin with. Last time this happened we spent a week in hospital". To my relief the Doctor replied: "that's where I'm sending you now." Bethany's chest had sounded 'crackly' and with the constant vomiting and her low weight it was his opinion that she should be admitted to the children's ward for possible Bronchiolitis. As worried as I was I was also really pleased that the Doctor had taken me seriously and we were being seen immediately. Luckily the hospital is only a 5 minute walk from my GP's surgery.

And so we were admitted back on to B11 Cubicles for the second time on Thursday 7th May 2009. For the first few days Bethany was extremely poorly. Her temperature was sky high and she couldn't keep any food down. She coughed so much and so severely that her throat was hoarse and when she cried hardly any sound came out. She needed quite a bit of oxygen during the course of the illness as her breathing was very laboured and she would desaturate, meaning the percentage of oxygen in her blood would drop. It was heartbreaking. A chest x-ray had confirmed bronchiolitis but unfortunately the only treatment was to wait it out. We fell back into the old routine. I would stay there 24/7, sleeping on a camp bed on the floor and Foz would visit in the evenings and on his days off. Thankfully the bronchiolitis eased after 4 days, although Bethany's cough remained. Unfortunately she lost a lot of weight, 8ozs in total, which is a lot for such a tiny baby. She went from 12lbs 4oz to 11lbs 8oz.

After 6 days we were transferred to a larger room with a cot for Bee and a bed for me! Joy! Normally Bee would probably have been allowed home once her bronchiolitis symptoms has eased. But with her weight loss and reluctance to feed normally again we had to stay. Of course being in-patients had it benefits: we were seen every day by a Doctor, sometimes more than one. Bethany had more blood tests and examinations, trying to diagnose a cause for her failure to thrive. Bethany has also always had a rattle when she breathes. It sounds like she needs a really good cough and it's been there since she was born. One doctor once told us that it was milk in her throat. What 24 hours a day, 7 days a week?? I don't think so. After complaining to the umpteenth doctor about Bethany's difficulties with feeding and her rattle one finally suggested that Bee be checked out by ENT, or the Ears, Nose and Throat department. Hooray! Progress! Someone who listens!

So I wrapped Bethany in a blanket, the Children's Ward is always stifling but the corridors off the ward are cold, and headed off to the ENT department. We were accompanied by a nurse, as if I couldn't be trust not to run away with her. She dropped us in the waiting room, informed the receptionist that we were there and told me she'd be back to collect us. I tried to reassure her I was very familiar with the hospital by that point and the hospital wasn't that big to begin with but she insisted. So there we sat, waiting, amongst the eldery men and women. Eventually Bethany's name was called and we followed the nurse into the room. This was mine and Bethany's first experience of a throat examination and I was quite prepared for how unpleasant it would be. I had to sit Bee on my knee, facing me, then lie her down so her head was resting upside down on the Doctor's knee. He then used a large wooden stick, like a giant lollipop stick, to push down Bethany's tongue and see right down her throat. My poor girl gagged and retched and I honestly thought she was going to throw up but she was a trooper and persevered. It only took 20 seconds and it was all over. I lifted her up and she sat on my knee, blinking and taking us all in. I murmured some reassuring words to her and she gave me a big smile. That's my girl. I turned to the Doctor for the verdict and it was here we got our first clue on the way to getting Bethany's final diagnosis. Our little Bee has a bifid uvula. My first reaction was probably pretty much what yours is: "A what??". Well, according to Wikipedia a uvula is "a conic projection from the posterior edge of the middle of the soft palate." In laymans terms it's a piece of tissue that hangs down like the tonsils. Bifid means split. So a bifid uvula means it is split. I asked about the ramifications of that and was told that although it can cause trouble swallowing, it's not a huge problem in and of itself and many people live with them with no effects whatsoever. He referred us to the ENT department at Alder Hey Children's Hospital with the recommendation Bethany have an endoscopy (camera) down her throat. Of course it's never pleasing that a Doctor does find a problem with your child but if there is something to be found we are always relieved when a Doctor does finally find it. We were pleased with the Alder Hey referral. They have a great reputation and are the nearest children's hospital to our home. It is also a regional centre for so many specialist units we knew we'd be in safe hands.

As a result of the ENT diagnosis and because of Bethany's feeding difficulty we also had a Speech and Language Therapist come and see us. We were pretty confused when we were told this as Bethany wasn't yet old enough to be speaking and she'd only just started baby babbling. When Claire the Speech Therapist arrived we felt immediately at ease with her. She was one of the nicest and approachable health professionals we'd met with so far and explained everything very clearly, instead of just assuming we understood the long medical terms. She explained that a speech therapist didn't just do the obvious of encouraging and developing speech. It was her job to look at the function of the mouth and throat, see how the mechanics were working and if there were any problems. We'd had to starve Bethany before the appointment to make sure she would eat while Claire was examining her. Consequently she was irritable and moaning so we started with the examination pretty quickly. Whilst Bethany had some solid food and then her bottle Claire listened to her neck with a stethoscope. She let Bethany finish eating then had a quick examination of her throat as the ENT Doctor had done, I then settled her in the cot with some toys so we could have a chat. She asked me lots of questions about Bethany's feeding, breathing and general health and finally gave me the verdict. Claire confirmed what the ENT Doctor had told us about the bifid uvula and gave us some rather bigger news. She suspected Bethany had a sub-mucous cleft of the soft palate. A cleft palate?? But she was fine, there was no split in her lip or the roof of her mouth. How could she have a cleft palate? I just didn't understand. Claire explained that the mucousal layer is the layer of skin and tissue that forms the roof of your mouth and cleft means split. So basically the sub (underneath) of Bethany's mucousal layer is split. That's why we couldn't see a split, it's underneath the roof of the mouth. The physical evidence was a high arch and a faint silver line running down the center of her roof. What this means is the muscles haven't come together and fused after the tongue descended during development. When a regular person swallows those muscles lift up the soft palate at the back of the mouth, to close off the passageway to the nose. As this hasn't happened in Bee's mouth it means when she swallows she gets fluid coming back up into her nose. This means effectively she has to swallow twice for each mouthful of food, doing twice the work, and she's got a constant amount of liquid sitting in the back of her nose, making her rattle as it doesn't drain properly. The second major effect that a sub-mucous cleft can have is difficulty sucking. To get a decent suck a baby needs to create a vacuum with it's mouth. If the soft palate isn't closing off the nose passage then air can still circulate and sucking becomes difficult. Suddenly all those hours struggling to breastfeed popped into my head and things started falling into place. Of course the little we knew about cleft palates involved surgery, speech therapy and all kinds of drastic procedures. Claire reassured us that in a lot of instances no surgery was required. As long as special bottles were used and weaning encouraged Bethany shouldn't have a problem. Usually surgery was only performed if the child developed nasal-sounding speech as they got older. That was reassuring. Bethany just seemed to tiny to go through surgery and it was the last thing we wanted to put her through. Claire gave us some special squeezy bottles so Bethany wouldn't have to struggle sucking, we could help push the milk into her mouth and promised to inform Alder Hey Cleft Palate department, who would send a specialist nurse to come and see us.

Trish, the Cleft Palate Nurse Specialist, came the following day. She confirmed everything Claire had told us and referred us on to the Cleft Palate Surgeon, Mr. Van Eden for a surgical consultation. Trish expressed concern during her examination of Bethany that her fontanelle (soft spot on her skull) appeared to have closed. We already knew Bee's was small but it having closed so early in life was a cause for concern. Trish explained that normally, as babies brains grow their skulls grow with it, closing the gap between the skull plates, known as the fontanelle. As Bethany's has closed so early their was concern that whilst her brain would continue to grow, the skull would not be able to accommodate the growth. This would result in the skull essentially squashing the growing brain and causing inter-cranial pressure leading to brain damage and an abnormally shaped skull. The correct term for this is Craniosynostosis. She told us she'd put a referral through to the Cranio-Facial Unit at Alder Hey and they would contact us in due course. Of course when she left I panicked. I imagined every minute going by was causing more and more brain damage to my beautiful little girl. As you can imagine we were completely freaked.

Bethany was finally discharged, after gaining 6 of the 8ozs she'd lost, on the 13th day. It was the day before my 26th birthday and the best present I could have hoped for, as cliched as that is. This time round we felt like we'd made progress. We had an answer as to why Bethany struggled to feed and I had the comfort of knowing the difficulty with breastfeeding wasn't my fault. But the up-shot of all this was it becoming increasingly obvious the Geneticists had something to find when they started testing. Now not only did Bethany have failure to thrive, developmental delay and hypotonia, she also had a cleft palate and bifid uvula to contend with as well as possible craniosynostosis. Trish actually asked us if we'd be surprised by a genetic diagnosis of something and we told her we wouldn't be. Her reaction was "if I'm brutally honest I wouldn't be surprised either". That just said it all.

We again couldn't have got through this period without the support of some very wonderful people: my Mum and Ken, Foz's parents and our good friends Lynne and Mike, even when it was just a pint of milk for a cuppa in the parent's room! :)

Our First Hospital Stay

Life at home was bliss. Well, as bliss as it ever is for first time parents. there was lots of crying through the night and getting to know each other. After returning home on that first day it wasn't long before Bethany went to bed. Of course, she wasn't asleep for long: hunger soon woke her up.

We soon fell into a routine. As Foz would be up for work in the mornings I always had Bethany through the night. I would get up with her, feed her and put her to bed, then express and go to bed myself. It was exhausting. I'd just be falling back into a decent sleep after expressing when Bethany would be awake again, wanting more milk. Still, I just felt grateful to have her home. Foz would have her Tuesday and Saturday nights as he was off work the next day and it gave me a break. But of course that meant he never got a lie-in so he was exhausted too.

As a premature baby Bethany has always been on the small side and we'd trained ourselves into repeating the mantra: "she'll catch up, she'll catch up". Still, on one of the health visitor's first visits, we were told Bethany was not gaining weight quick enough and it was a cause for concern. I was very upset. Not so much at Bethany not growing quickly, we'd come to accept that this might happen as she was a prem baby, but at the HV's insinuation that it was something we were doing or not doing to cause this. She again pushed me to try breastfeeding, as if I hadn't been upsetting and stressing myself trying over and over. Bethany would just not latch on, much less attempt to take milk. Why on earth did she think I was driving myself to exhaustion expressing every 3 hours day and night? because I know that breast milk is the goods and Bethany deserved the best I could do for her. I explained that every time we tried to feed Bethany she would cough and choke then cry. That she didn't really have an interest in milk and we struggled to get much in her. She told us to raise the concerns about her weight with the Paediatrician at the following appointment I duly raised the HV's concerns and the Paediatrician agreed her weight gain was slow. He had a good examination of her, asked me all kinds of questions about feeding and sleeping habits, her mood and such at Bethany and the gently told me that Bethany had certain 'dysmorphic features'. Ok, no cause for alarm. We'd been told In Scoo Boo that Bethany had certain features which may be indicative of a genetic disorder of some kind. She'd been tested for Turner's Syndrome but it had come back negative. Since that we'd pushed it to the back of our minds. There's was nothing wrong with our perfect girl. Unfortunately now, the 'features' coupled with other factors: her failure to thrive and increasingly obviously floppiness, was pointing more and more to their being something wrong. The doctor asked if it was ok to refer Bethany to the Clinical Geneticists team at Alder Hey Children's Hospital. I told him it was. Ignorance is not bliss. In terms of her feeding it was suggested that maybe Bethany was just a fussy baby and it was best to just persevere. She was also diagnosed with Hypotonia, meaning low muscle tone, also known as floppy baby syndrome.

By Bethany's 6-8 weeks check she passed all the goals apart from smiling, we were yet to see Bethany's first smile. We'd had a few twitches but were never sure if they were just very cute 'wind smiles'. A further appointment was made for Bethany's 13th week just to check that she had started to smile.

As Bethany grew and progressed the differences between her and other babies became more apparent. Bethany finally smiled at 12 weeks old although where other babies could hold their heads up, play happily on their tummies and reach for toys, Bethany could do none of those things. She still lay on her back, as immobile and weak as a newborn.

Bethany's first trip to A&E was on Friday 13th March, when she was 5 months old, after she had been off her feeds for a couple of days and we were worried. As she was only 9lb 14oz in the first place we couldn't afford for her to not be eating properly. She was weighed in A&E at 9lb 13oz and admitted with a view to possibly putting a feeding (or NG) tube in her nose. After two nights in the most uncomfortable chair I've ever had the misfortune of sitting in my Mum and Ken stepped in and bought us an airbed. No more nights in a chair!

Due to Bee's low weight we were admitted and her feeds were monitored for a couple of days. She also had a lot of blood taken for various tests to try and diagnose why she's 'failing to thrive'. After another weigh-in at 9lbs 6oz she was given the NG tube before she went to bed on the 3rd day, it's not normal for babies to lose weight and is especially worrying for babies as small as Bethany. After a feed through the tube she threw up twice and it was removed. She did better after that and started taking more milk each time. She managed to get back up to 9lbs 9oz, although was still very skinny. You could feel her ribs and spine.

During that stay in March she was diagnosed with a small fontanel (or soft spot) on her skull. We didn't know what, if any, impact that would have or really what it meant in terms of her health, the doctors were vague.

After a few more days of monitoring and after liaising with the hospital's Dietician Bethany was put on something called Infatrini. That is a high protein and calorie milk and to add to the milk, Duocal, a high-calorie powder.

Her blood tests all came back negative (or perfectly normal), which was great, but left us no closer as to what the problems were. She's was tested for basic functions like liver/kidney etc and some infections but all were ruled out. While we were still waiting to see Alder Hey for the genetic, doctors at Warrington General were working on finding or ruling out a clinical cause.

We were eventually discharge after 6 days feeling like we'd made no progress. Of course this wasn't entirely true, we'd managed to rule out some things, which was helpful. So March 2009 was our first taste of hospital life (not including Scoo Boo of course), something which we'd become accustomed to.