Gappy McGap

'All I want for Christmas is me two front teeth' couldn't be more apt for our G at the moment. In fact, she'd like 3 teeth!

I'm always learning, especially with regards to Turner Syndrome. What I've recently learnt  is that our girls' teeth often (not always) fall out at a younger age, and in quick succession. G has lost 3 in a matter of weeks, taking the total up to 5 now. The majority of her classmates still have a full set of their baby, pearly whites, whilst G we now affectionately call Gappy McGap! Gorgeous girl and her cheeky gappy smile.

With regards to dental health in Turner Syndrome, there has been talk of shorter roots, overcrowding of adult teeth and possible overbite. For now though, all that our G cares about is how much the tooth fairy is bringing her, and ensuring that she doesn't swallow any more teeth.

Appointment updates

No grommets yet, hurrah! Tuesday night saw yet another sleepless night for G. The anxiety of her impending Ear, Nose and Throat appointment had sent her anxiety in to overdrive. She has been having a routine hearing test every 10-16 weeks to monitor the fluid behind her ear drum, and her mild hearing loss, and this Wednesday we were back again.
Thankfully this time her hearing had improved slightly, and although she still has fluid behind her ear drum, the drum is able to vibrate enough. Enough for them not to want to give her grommets just yet.
The only real effects G is having is some regular ear pain, and struggling with hearing in busy situations. If that's the trade off for not having surgery just yet, then she's more than fine with that. We all are!

At the annual Turner Syndrome Support Society we were all directed to a fantastic leaflet outlining how hearing is affected in girls with Turner Syndrome (and how issues can differ slightly to ear problems in the general population). So I armed myself with this leaflet, and hoped that the consultant would take it, and read with interest. He took it - only because I virtually forced it upon him - but had very little interest, and implied that all the consultants know what they need to, to be able to treat G effectively...
What, really? You know the specifics of how a syndrome that often many of our consultants have only read about in a textbook or physically encountered on less than a handful of occasions, affects my daughter specifically? That girls with TS have an abnormality of how sound is processed centrally? And that this can mean that the hearing impairment can actually be greater than a simple hearing test may imply?! I know that Doctors don't, and can't know everything about everything. I'm not unreasonable, Doctors are an incredible wealth of knowledge and do an amazing job....but when a mumma is reaching out and sharing important information with you, take it. Please.

                           ~

I think we have a clear run up to Christmas now with regards to medical appointments. Well, we still have the dreaded third blood test, but I am in no rush to book that.
We do have our visit from the local specialist support services coming up, which we are eagerly anticipating. Hopefully they will have some strategies for us to implement to make life easier for G, to help to reduce her anxieties, and to help to reduce the epic meltdowns.

In other news:

G has been helping me to bake our own gluten and dairy free bread in our second-hand breadmaker. EXCITING!

G's reading is coming on fantastically - she now enjoys reading some of her old books to her brother at bedtime. It's adorable (for the 30 seconds before he decides he's had enough, she tries to pin him back down, and he swipes her, making her either lose it, or cry!).

G is due to go to the theatre with her school to see a Christmas panto. SENSORY OVERLOAD...noise, lights, lots of people, scary characters, booing and hissing. My goodness, where do we even start with this?!

Oooo and did I mention that G has now been to hairdresser 3 times in the past few months, WITHOUT  a single meltdown?! It's rather incredible. We've found a superb hairdresser who has firsthand experience of the Autistic spectrum, and of course of handling curly locks. She can comb and cut G's hair without G's sensory system going into complete meltdown. LITTLE WINS. Every little win counts <3

The greatest show

The annual Turner Syndrome Conference has been and gone, and a bit like Christmas has left us with wonderful memories and a warm fuzzy feeling, but equally left us with the 'January blues ' ...knowing that the next event couldn't feel any further away.

Aside from the fact that little H chose not to sleep this time round (throwback to G's first conference 4 years ago), we still had a magical weekend full of fun, love, knowledge, insight, tears, singing, dancing and cooked breakfast. G loves a cooked breakfast! And above all else was the acceptance and understanding that is only ever felt when we are with our Turner Syndrome family. What could have rounded off such an incredible weekend? G finally taking part in the Saturday night show. She danced, she actually danced.  No tears... Well maybe a few in our eyes! ‘This is me’ was the theme this year, and my goodness, what amazing individuals each and every one of you is. Just as you are  ❤️

I can't talk about conference without sending a massive shout out to a charity called The Arnold and George Yeomans Feakin Charitable Trust who paid our full fee to attend the weekend long conference. We simply could not have attended without their generous donation. And of course it wouldn’t be the marvel that it is without The Turner Syndrome Support Society-a charity, advocate for the best medical care possible for our TS girls,  and an extended family all rolled into one.

So what did I learn this year?

• Upto 80% of girls with TS have recurrent ear infections.
• 25% of girls with TS will have hearing aids by the age of 40.
• Cognitive processing difficulties can be present in our girls, despite on the surface them looking like the model student. They may be working ten, twenty times harder underneath...
• Oestrogen therapy should start by the age of 12. Unbeknown to me, oestrogen is also necessary for connective tissue, cardiovascular function, cognitive function and many other things. NOT JUST PUBERTY.  
• Growth hormone injections shouldn’t just stop at a set age (in my head I had around age 14), an x Ray needs to be done to confirm that the bones have fused together and thus further growth hormones will be redundant in increasing final height. 

What did we know but we've been reminded of?

- Our girls' HEART health is so important. G is being seen next March. She is currently seen every 12 months which I know is lucky really as many girls And ladies haven't been seen for many years. Many have such a fight on their hands. NOT ok.

- Many girls with Turner Syndrome struggle with social communication - especially understanding of facial expressions, understanding things like sarcasm and inference, starting conversations, taking turns etc. We often take things like ‘reading between the lines’ and not taking things literally, for granted. This is a minefield for our girls.

- Incorrect cutting of toenails (and finger nails) of girls with TS can and will lead to infection. Due to the irregular shape of the nails, it’s beneficial to leave them longer. This year we had a video tutorial on nail cutting. (That missing X really does have an array of effects!).

- The support of others who walk the same walk, is incomparable. Period.

~

Boy did I put my knowledge and conference induced confidence  into action soon after leaving...I went to G's endocrine (hormone) appointment this week armed with a list and an agenda. Never underestimate the power of a mother armed with a pen and notepad!

Appointment update:

Endocrine- growth is fantastic; 8cm in the last 12 months. I knew those legs were longer, she actually now needs age appropriate sizings! As a result her daily injection dose is being increased, so to keep up with her growth.

Recent blood work was fine but they FORGOT to test her thyroid, so they need blood s again. Third time. Regular followers will know  what this information did to my poor babe. Instant breakdown. The girl who worries about annual bloods, needs a whole team of people to take her blood and needs to be specially booked into the paediatric ward for it.

Ophthalmology - G's eyesight is now perfect when wearing her new blue specs, so the ophthalmologist was very happy. Now to encourage our beauty to be a daily wearer like moi!

Upcoming Ear, Nose & Throat -G has always struggled with her ears and with infections. With it now affecting her hearing, she is due to be retested this month and we'll find out whether surgical intervention is required. Just a classic case of grommets-very common for Turner girls, and non TS children alike.