Thursday, 9 June 2011

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.

1 comment:

Invige said...


I feld the same when we now ower daugther was a Kabuki girl... in her eyes I see only the Kabuki syndrome for a few days after the diagnose.
now in her eyes I see the most beautifull lovly and strong girl I now!!!

Lou-An 's mom from france