And the Winner Is.....

This morning brought Bee's appointment with her physio. I've been looking forward to and dreading this appointment in equal measures, knowing it would most likely end in a battle of wills over the walker that I think Bee desperately needs.

I made a point of allowing Bee to walk into the therapy room with her little toddle truck, I wanted the physio to see how small it was for her and how much she has to stoop to use it. I was waging the psychological battle before I made ready to throw down my gauntlet.

Hitching a ride with Daddy

The appointment started as they normally do, observations of Bee playing and moving around the space while we discuss how she's doing. The physio was very pleased with her progression, noting Bee's increase in confidence and it was at this point I decided to lay the groundwork for my challenge. I started to wax lyrical about the freedom Bee has walking with the truck and how much quicker she has progressed since mastering it.

"Well" the physio said, "I was thinking it was maybe a little small for her. How would you feel about a medical walker?"

Completely nonplussed I just looked at her, my whole barrage of arguments flicking through my head while I searched for an appropriate response. Finally I managed "I'm so glad you said that!"

We went on to try a walker in the appointment and Bee, although hesitant at first, should adapt to it nicely. They have swivel-wheels, which will make a huge difference to her. No more walking in straight lines until she hits something because she's not strong enough to lift and turn her truck. No more stooping and walking stiff-legged. My girl will finally, finally have the freedom that other toddlers have: the freedom to roam and explore.

Stand Up & Shout!

I think I'll just let this video speak for itself:

(Excuse the quality, done on my phone)

Bee has been doing this for a couple of weeks now and is getting stronger every single time.

Frustratingly she will only do it when she thinks nobody is watching, if you encourage her or make a fuss she promptly plonks her bum down on the floor. We're so very proud of her though!

Tomorrow morning brings Bee's next physio appointment. We've made the decision to ask for a walker. As you may have seen me blog recently: her physio has always maintained that Bee will not need a walker. We disagree though. Even though she is pretty much physically strong enough to walk, she is a long way off being balanced and co-ordinated enough to walk. Without something to support her, Bee has to spend our days out in the pram (or her snazzy Smoby car) and she gets very bored, which results in tantrums. She needs a walker to give her the freedom that other toddlers have and other parents take for granted. I just hope I can make the physio see that and understand.

Makaton Monday

A new feature to help bring Makaton to people who may well not recognise it.

Starting with one of Bee's most frequently-used signs...

Closed fist with a single 'knock' motion

F:UN - Families United

This morning we attended the Saturday Fun Club of Families United, a fab charity in my hometown for children with special/additional needs.

Taken from their website:

The aim of F:UN is to provide children with sensory, physical and associated disabilities the opportunity to interact with other families and professionals, enabling learning and social support for all.

It's a wonderful organisation, providing a twice-monthly fun club, frequent day trips and lots of support for parents of children with disabilities.

Bee and I went with our lovely friends Clare and Isla and we had a great time! Lots of toys and fun, plus some guitar-led singing and dancing. The girls are exhausted!

But the best thing about this morning was when we sat down around a table for the children to have a snack. When I attached Bee's feeding tube nobody stared, there were no slightly askance looks or pointing and whispering. To be honest, the gastrostomy feeding tube was ignored. And it was wonderful.

http://wwwi.familiesunited.org.uk/

Foto Friday - 24/06/11

I have so many photographs of Bee that friends and family joke that she must be the most photographed child in creation. We even had to buy an external hard drive to free up some space on the computer. So this is going to be a new feature on my blog. Foto Friday won't be a post of any substantial length, just a time to share some of my favourite pictures of my girl, both new and old.

As my girl has achieved so much recently I thought I'd start with some pictures taken on a trip to the park on Wednesday:

Bee concentrates on her walking

Recently we've been trying Bee with her dolly pram along with the toddle truck for walking. The truck is very heavy and Bee can allow it to take a lot of her weight when walking. The dolly pram, on the other hand, is extremely light and Bee has to work harder to walk with it. Consequetly she tires quicker and can't walk as far as she would with the truck. We tend to alternate between the two.

"I'm not sure Mummy"

It's taken a long time to overcome Bee's tactile defensiveness at the park. She'll now sit on (and even touch) the red rubberised floor around the equipment, although she's still not hugely keen on the textured metal.

Bum shuffling

To accomodate her tactile defensiveness Bee has developed an ingenious way of getting around the park: bum shuffling! Her nappy-padded bum and shoe-covered feet are the only surfaces that come into contact with the floor and she will comfortably transfer to concrete, which she wouldn't with crawling. Ingenious but not so great on the clothing wear-and-tear!

A Childhood Rite of Passage

Today we reached a milestone in Bee's development.

Well, kind of a milestone.

Bee has been getting more confident recently as we encourage her more and more to use the toddle truck and walk instead of being carried. We can see the tiny improvements in her confidence as the days go by, it's painful slow but it's happening. Today we spent the day at my Grandparents and Bee was in her usual ebullient mood, toddling from room to room holding the hand of anyone who would patiently walk her back and forth. It was during oneof these forays from the hall back through to the living room that it happened.

Bee suffered her first bump on the head.

It happened so quickly; one second she was toddling holding someone's hand and the next second she was reaching out for the table, her hand slipping and falling, catching her eye on the corner of the table as she went down. Well she just crumpled into a ball on the floor and screamed. I dashed over and picked her up, luckily she'd missed her actual eye and caught the top of the eye socket, just on the outer edge of her eyebrow. Already a lump and red mark was forming, although thankfully no split skin and Bee was hysterical.

It only took her a few minutes to calm down, she was very easily distracted by her 'In the Night Garden' book with the buttons and sounds (thanks Clare!)

Bee's poorly right eye

So there we have it: Bee passed a painful but pretty standard childhood rite of passage and has a nice little red, lumpy trophy to prove it. I'm sure as she slowly begins to stand and walk unaided we're going to have many more of those!

Fun in the Sun!

Well June has finally come good and we have some sunshine! Two days so far of glorious light and heat.

This morning my girl continued to charm the pants off anyone who comes in contact with her and the SLT was no different! The result of this morning's appointment: Bee is understanding at an age-appropriate level! A massive achievement and one I am so terribly proud of considering 6 months ago she had quite a lot of delay. We're aware her speech is delayed, having only 17 words, but as Bee constantly chatters and babbles her SLT is confident she'll achieve in time, just at her own pace. That's fine with us, we know our little girl does her best.

To celebrate her glowing report, Bee and I took advantage of the sunshine and headed to the park, accompanied by her 'gam-ma'. Bee likes the park, just not enough to go on any of the equipment. Or touch the floor. Or generally move at all.

For some reason today that all changed. We had big smiles in the swing, big smiles on the climbing frame and big smiles as she toddled about holding mine and Grandma's hands. I was amazed! We even managed some barefoot walking across the rubberized floor and the grass! We got her usual 'naow naow' the whole time but she still did it, no tantrums, just slight unease. Success!

As Bee was doing so well we decided to try letting her manoeuvre herself around the floor and the equipment, instead of lifting her on and off.

Well, see the results here:

(Excuse the quality, done on my phone)

My clever girl.

She's still not keen on the slide but such huge progress. The metal surfaces of the equipment are textured, not smooth, so a big tick in the win column for Bee!

Every day I see her innate bright and inquisitive nature helping her to overcome her fears and I'm so proud of her.

To Walker Or Not To Walker?

Mummy & Bee go food shopping

As Bee is not yet walking unaided we try to make sure she spends as much time with her toddle truck as we can. We take it everywhere with us, even a short walk from the car to the front door is good practise. Bee may walk stiff-legged and can only go in straight lines but she grows more confident by the day and we're hopeful it can only speed the onset of her first unaided steps. 

As Bee grows it's becoming more and more apparant that her toddle truck is too small. We're now at the point where she stoops slightly to grip the handles and it's creating an awkward stance for her as she's walking with it. For this reason we have made the decision to ask the physio for a special walker. We had hoped that Bee would be walking unaided by the time she grew out of convential, store-bought aids but that's not turned out the be the case. I'm not ure how the physio will react to the request, she's always maintained that Bee will not need a walker. However, she's not ready to walk unaided, her balance is poor, yet with an aid she's off like a flash. Even if it is in straight lines! So at our next appointment I will ask. And keep my fingers crossed.

Door!

The successes just keep on coming for Bee at the moment and today we notched up another one.

Whilst playing at her Great-Grandparents (Noo Noo & Gee Gee) this afternoon we had a moment when my Grandad needed to leave the room. As they live in a top floor flat with a staircase we keep Bee in the living room with the door closed when visiting, to prevent any accidents. 

As my Grandad left the room the door closed behind him and Bee, everyone's shadow, crawled over to bang on it. She doesn't like people leaving a room without her, she's very nosey.

"Dior dior" she shouted.

Pardon Bethany?

'Dior'?

Do you mean 'door'?

Apparantely she did. My little Bee told us that her Gee Gee had gone through the 'dior' and was now in the hall. And, when showered with clapping and cheers she said it again. And again and again.

Bee with her Great-Grandparents

Now, this evening, I pointed at the door and asked her what it was. I wanted her to show her Daddy the new word. Frustratingly we got "uh gnnn" over and over. Until finally, after asking 15 or so times.... "dior"! Once we'd got it out of her once, the dam burst and we got it over and over again. We cheered and clapped and made such a fuss! Well done Bumblebee!

Small Steps

June has been a miserable month, mostly dull grey skies and rain. The kind of weather to have the central heating on, not to get the paddling pool out. However, yesterday the sun decided to grace us with it's presence and it was relatively warm. We leave the front door open when it's warm, allowing a breeze to move through the house and Bee likes to put her toys one-by-one on the front step. Despite this she's always had a phobia of actually being on the step, or the drive, as they're made of poured concrete and textured. Sensory overload. So she'll sit on the mat in the hall, throwing her toys outside and giggling to herself. We lost a (very overpriced) helium balloon from 'In the Night Garden Live' in this fashion. Gutted.

Yesterday, as the sun shined, the front door was once again open and Bee was merrily chucking her toys out one-by-one. She was dressed in a lovely summery pair of blue leggings and a matching smock-style top. I took advantage of the moment, sat on the step in front of her and encouraged her to sit next to me. She was not keen but not yet upset so I picked her up and placed her next to me. We had no tears, progress! We played for a few minutes and I decided to push my luck. In for a penny, in for a pound right?

Last time I'd been out in the car I'd parked by the curb instead of in the drive, so we had a large expanse of open space. I started with the encouragement:

"Ooooo look Bethany, can you see Mummy's car?"
"Shall we go and look at Mummy's car?"

"Show me where Mummy's car is"

And on it went until Bee was so excited about this car she could have been meeting Iggle Piggle in person all over again (that's another story!) I stood and helped Bee do the same. Holding one of her little hands in mine, and with a lot of encouragement, we walked down the drive to the car and all the way back again. Maybe not a huge achievement on it's own, Bee has walked further than that and with considerably more enthusiasm that this time. BUT, yesterday Bee walked to the end of our textured drive and back...

...with bare feet!

It's difficult to explain just what a big achievement that is for a child who is afraid of touching anything textured and has a special dislike for sensation on the soles of her feet. I'm so proud of her. She did it and we had no tears, no tantrums, just the occassional "naow naow" in complaint.

My brave girl.

Squidging and Fighting

Pokey pokey poke

With Bee's sensory issues we've never had much luck with Play-Doh, or any kind of craft/messy play substance but recently we had a small breakthrough recently as Bee decided that Play-Doh is now the funnest thing *ever* in the whole wide world! I'm really happy as Play-Doh is going to be great for her fine motor skills, Bee lacks strength and muscle tone in her fingers and it can make gripping things or picking up heavier items difficult.


Now, instead of tantrums when she sees the Play-Doh tub, we get big smiles and frantic signings of 'yes'. Of course, the tantrums haven't really disappeared, they've just transferred to the end of the play session instead of the beginning. Gosh help me if I try and put the Play-Doh away! 'Tidy-up Time' has become the cue for strops and real tears.

But I want to keep playing Mummy!

The timing of this breakthrough is especially nice as we had some frustrating news recently. Two weeks ago Bethany had another video fluroscopy (a video x-ray) to assess whether she was still aspirating and if we could try to reestablish feeding.

It was not a fun appointment. Bethany was strapped into a chair, with a nurse behind her holding her head still and a nurse in front clamping her arms down. She was effectively immobilised. I then had to force-feed her puree and liquid to see if she aspirated it. Of course Bee absolutely freaked, as she's very tactile defensive about both of those substances, and refused to co-operate at all. It was very distressing for both her, me and her Daddy, who had to wait behind the protection screen because it was an x-ray. The result of all this was we discovered Bee tolerated the puree and didn't aspirate any of it, but she aspirated the liquid. So a small step forward. We could start giving her puree but no liquid. Wonderful! The minute the nurses undid the straps and I picked Bee up she was all smiles, even blowing kisses at the nurses. One commented that they'd never been forgiven so quickly! That's my girl, she makes me so proud. So, armed with a sticker for Bee, and good wishes for us we left the appointment feeling traumatised but happy.

Bee's Speech and Language Therapist (SLT) had asked me to keep her informed of the results so I rang her soon after the appointment, only to find she was on holiday. A few days ago we received a call back. She was happy for Bee to commence puree feeding and said this was the only way to teach her to chew: she had to be weaned like babies are. I explained about Bee's tactile defensiveness, that she won't touch puree, won't even let me spoon it into her mouth and the SLT said Occupational Therapy was the way to go. That's who deals with sensory issues.

What a huge breakthrough!

Bee already has an Occupational Therapist (OT), we've seen her sporadically since Bee was small. She's helped with Bee's fine motor skills whilst her Physio has worked on the gross motor.SO I rang her for an appointment, which didn't go to plan. Her OT informed me that, due to funding cuts and staff shortages, they do not provide therapy for children with sensory issues. There are just too many referrals.

WHAT??

So Bee can't have an OT appointment to deal with her sensory issues? So how are we supposed to get her to eat, have a bath or go anywhere near grass? What are we supposed to do?? All Bee's OT could offer was apologies and an information sheet in the post. I found the will to thank her and ended the call.

At this point I freaked. Not at Bee's OT, that would be unfair as she doesn't make decisions, just follows them through and has the unenviable job of telling the parents. But I did freak at the wall of the living room and a defenceless sofa cushion found itself flung across the room. I alternated between being absolutely furious and so devastated I sobbed. To top things off, I tried to get a cuddle from my girl to make me feel better and when I asked I got an imperious "naow". Fine then.

Squidgy squidge

So I pulled myself together and got back on the phone. First call was to Bee's SLT to explain I'd had no joy with the OT and was going to have to look elsewhere. Then I got on the net looking for a private OT, knowing we can't afford it but willing to look anyway. As it turns out; no, we can't afford it. At least £70 an hour to go private and gosh knows how many appointments it would take to help Bee. I started looking at charities. Cerebra do grants for therapy, but only if it's something that shouldn't already be provided by the NHS. No luck there. 

Then I came across http://www.brainwave.org.uk/index.aspx

It seems so perfect. they see children from 6 months to 12 years and deal with all kinds of problems with their dedicated physiotherapists, SLT's and OT's. They spend 2 days with your child and create a personal plan to work on at home, which is reviewed every 6 months. Plus they're a charity *and* they're in Warrington! I'm there! Where do I sign up?? I couldn't click around the site and read the pages quick enough. Brainwave seemed like everything we desperately need for Bee.

I sent off for the information pack anyway, can't hurt to have a look. When it arrived I found they have a 'hardship program', designed for people who can't afford their prices. Foz and I plan to apply, it's means-tested but I can't imagine that we will fall above their threshold. We've sent the initial enquiry form back and are now waiting for a Brainwave therapist to call. We'll discuss whether or not they can help Bee and we'll ask nicely about the hardship program.

Fingers crossed.

It's on my finger Mummy

Bee's Dictionary

Bee has 16 words now and although some of them are clear, many of them can only be understod by those that know her best. We're aware that her pronounciation may always be poor so I've been putting together a dictionary of Bee's words for people who don't know her so well.

Word                                 Sounds Like

Mama                                Ma ma

Daddy                                Da dee / Dee dee

Yes                                    Yeah

No                                      Naow

Ta                                      Gaa

Thank you                          Guy-or / Guy-oo

Grandma                            Gam-ma

Car                                     Bum bum

Monkey                              Ooo ooo

All gone                             Uh gnnn

Baby                                  Ba ba

Hello                                 Hey-yo / Hiya

Bye bye                            G-bye / Be bye

Dog                                   Uff uff
Food                                 Num nums
More                                 Moh
Great-Grandma                  Noo noo

This list is ever expanding but we're so impressed with 16 words, truly a great achievement for her. It helps that Bee is so keen to communicate. She spends her day babbling and there are many things she says repeatedly. We're sure these must have meaning for her but frustratingly we can't work out what that is. Bee can also get very frustrated now when she can't make herself understood and we know this is only going to get worse as her mental skill continues to overtake her verbal. We're going to continue with the Makaton, in the hopes of making her life a little easier.

A New Beginning

It has been a long time since my last post and I have recently felt the need to continue with Bethany's story. I'll make this post relatively brief, more of a quick catch-up than an in-depth story and will endeavour to blog more frequently from now on. Our little Bumblebee is now 2 years 9 months old and in September she will be going to nursery, a terrifying yet exhilarating thought.

Last time I wrote, Warrington Wolves had won the Challenge Cup at Wembley and Bee had scared us all with another virus-related hospital visit. Since then, Warrington Wolves have successfully defended their Challenge Cup (2010) and are having a fairly decent go at doing the same this year too. Unlike Warrington, Bee has not repeated her virus shenanigans and we've remained relatively hospital-free. We've had the odd bug here and there (once or twice had an overnight stay) but since having her gastrostomy fitted the illness has been little and very infrequent.



Speaking of which, Bee is still gastrostomy-fed. We have tried to re-establish feeding on and off but it has always resulted in a chest infection, so we have not tried for a while now. Sometimes I feel she may never eat but then I pick myself up and we try again. Recently it's been getting harder. Bee is starting to understand what eating is and is eager to try. She says "num nums", which is her way of telling us she wants some of what's on our plate. We give her small things here and there, mostly she just plays with it in her mouth until it's soggy, then pushes it away. I know when we do try feeding again it's going to be a long, hard slog. Bee will need to learn about biting, chewing and swallowing just like a baby would.


Our little Bee is still struggling with the Hypotonia. When I last wrote she was just over 1 year old and sitting unaided for decent periods of time, although she tired quickly. As with all things for Bee, that improved slowly until, finally, she crawled in summer of 2010. Now there is now stopping her and if there was an Olympic sport for crawling I'd have her at London 2012, speeding round the final lap and crossing that white line in a blaze of glory and a record time. Her crawling and inquisitive nature quickly led to pulling herself to standing and cruising along the furniture. For the first time ever we had to start watching where we put things down or whether we'd left a door open. It was time for baby gates! Bee was slower to transition from cruising to walking with a toddle truck than she was to transition from crawling to cruising. I think this has a lot to do with confidence. In many areas Bee suffers with a crippling lack of it and it impacts her willingness to try new things. It took a long time to transition from cruising to walking holding our hands and using the toddle truck. But now she is adept and will happily toddle (in straight lines) with her little wooden truck and will walk holding your hand. Her balance and coordination is very poor and she stumbles a lot, but my little tryer just keeps on trying. So far we've had no independent steps but we live in hope.


Another of Bee's daily struggles is her sensory processing skills. She is afraid to the point of hysterical panic over a lot of textures encountered in every day circumstances. The one causing us the most trouble currently is water, i.e. the bath. Bathtime turned overnight from a fun, splashy, bubbly playtime to a hellish, screaming nightmare. We don't know what changed, why suddenly water was the most terrifying things on earth. It's just another of our Bee's little quirks that we live with. Water is joined on Bee's "Evil Textures of the World" list by grass, sand, certain carpets, 'messy' substances like paint or sauce, concrete, play-doh and more besides. We know it's not her fault. We know it's not bad behaviour. Bee's just doesn't process sensory input in the same way most people do and it's something that she will have to be taught as she grows as she won't learn it for herself. We're still behind on speech and see a SLT regularly, both for feeding and communication. Bee currently has 13 words and 5 Makaton signs, which is expanding more rapidly every day. Many of her words can only be understood by us and those that spend a lot of time with her, but that doesn't matter. As her SLT says: the most important thing is that Bee chatters (babbles) *all* the time, she clearly wants to communicate and that is something you can't teach. Her SLT is convinced that Bee will pick language up in her own time and when she is ready, so we're not unduly concerned yet.


Finally, maybe one of the most important things to happen for us medically recently was the discovery of the 'Kabuki' gene, or at least one of them. In 2010 the MLL2 gene mutation was discovered in America and is thought to occur in a large % of KS sufferers. In February we received a letter from Manchester Children's Hospital, where Bee is a part of the KS study, for an appointment. We finally had our positive, blood-test confirmation that Bethany has Kabuki Syndrome. This was a difficult day for me. I knew what the outcome of the appointment would be, yet as we left I felt almost bereft. Like an echo of the grief I'd felt when first finding out our baby had a genetic problem. It was strange and uncomfortable. I'd known what the results would be so why was I so upset? I think in part I'd always held a small hope, one I'd even hidden from myself, that all the doctors were wrong. My little girl was perfect with no problems at all. Of course, that's clearly not the case but there's nothing quite like having it put in front of you, in stark black and white. I looked down at my beautiful girl, who was smiling up at me and saying "mama" and gave myself a bit of a mental telling-off. The confirmation hadn't changed anything and wouldn't change anything in the future. Bee would still be the same girl we adore and we would still be the same parents who would do anything for her.