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.

Sleep, school and screaming

Considering I’ve been up since 4am this morning, sleep is somewhat misleading as a title! Since returning to school, the implications on G’s sleep have been two fold-sometimes she’s totally exhausted and once she’s asleep she’s out for the count... but....the school induced anxiety/overactive brain gives rise to a buzzing babe who is often up until gone 9pm and wide awake by 4am. Throw her little brother into the mix (he  seems to have inherited G’s crazy sleep patterns) and it’s a sure fire recipe for 8am meltdowns. Right in time for the school run. Hurrah....

So I spent much of the summer holidays looking forward to the routine and stability of the new School term. Routine and stability are VITAL for G. Only what I’d forgotten to factor into the equation is her dislike of school. The epic morning meltdowns. The after school meltdowns. The going to bed each night promising myself I’d handle tomorrow’s meltdown better, make her happier, ensure she didn’t go to school thoroughly exhausted from her emotional outbursts. I then spend every journey home from said School run trying to analyse just exactly where it had all gone wrong. Again. I also try to remind myself that she can’t help it, it’s her ‘internal wiring’.   

I know it’s all change, and G can’t cope with change. The transition to year 1 is a biggie. But equally I know that this won’t be the temporary new class blues that many children experience. This is us. Every. Day. Now don’t get me wrong-she isn’t badly behaved at school, or in floods of tears all day, or sat in the corner alone and unhappy. For her is more the angst of going, and her fear of missing out  with mummy and H at home. And the  upshot to G’s emotional side-she’s incredibly loving and caring. I ADORE  that about her.  It’s just working out how to cope with the meltdowns.

So with that in mind, we’re seeking support from her new teachers along with a specialist service offered by the local council (a branch of what used to be autism outreach support) to try and bring about some positive changes in our mornings. Watch this space!

The start of this academic year was a somewhat bizzare one for me, I wasn’t preparing for a return to school myself. Two maternity leaves aside, this is the first year in ten years that I haven’t been back at school myself. Emotionally I’m far better off for it, stress wise too (my head is full to bursting most days-minutes-seconds anyway!), but I do miss it just a tad. My bank balancing is probably missing it more though.

What does the next month hold for us?

October = annual Turner Syndrome conference!! I cannot tell you how excited I am! Every year I say it-the place where acceptance, love and understanding comes in bucket loads. Where information, knowledge, and medical support is simply second to none. Every knows, everyone has ‘been there’, everyone is simply amazing. 

October also sees G return to the ophthalmologist to assess the impact of her new glasses. It also sees our bi-annual visit to the paediatrician/endocrinologist. 

Tomorrow = G’s repeat bloods. Ahhhhhhh! I feel for her, she’s terrified. Love, treats, hugs and more love on the cards for G tomorrow. 

And of course, a much needed half term for G. Yes it will bring a whole new set of challenges but equally it will be fantastic to see the element of school anxiety melt away for a few days for my girl. Where she can be where she loves to be-at home and happy. 

Boys, boys, boys

Thank you for all of your love and prayers over the past four weeks. H is Fully recovered. The operation didn’t quite go to plan but he’s none the wiser (for a fair few years at least). Daddy is also healing nicely-his disc removal was a success. He’s due at the physiotherapist this week, and the specialist in two weeks, and hopes to return to work full time in the next few weeks also. Daddy’s beyond bored, hating my driving, and missing lifting up his babes, but overall his recovery has been incredible. 

That’s us, I think! Bedtime yet?

Holidays, heat and hospitals!

Well I think I blinked and missed July! Thankfully we didn’t blink and miss the British summer this year...our holiday to Cornwall was a scorcher for the first time EVER.

Much of the summer holidays have been spent in the garden under the shade of our homemade sail-style canopy (think bed linen on the washing line come strewn across the garden due to high winds and you’re about there). They’ve also been spent trying to keep up with little H’s antics as he enters the world of walking, and generally attempting EVERYTHING that is mischievous/heart-attack inducing.

With only two weeks of the school holidays remaining, we’re now turning our thoughts to ridiculously priced School shoes, first day back anxieties, and the two main men in our lives both having operations this bank holiday weekend. EEEEK!

News news news...

- G is being monitored for high blood pressure. Now we’ve always had problems with blood pressure montior cuffs fitting G. I know this. I anticipated this. I rang ahead and checked this. ‘Don’t worry, we’re all prepared’ they said.
No. Twenty five minutes of tears and the cardiac investigations team concluded G would not be able to go home with a working blood pressure monitor. I almost wanted to mutter ‘I told you so’ on my way out, but the screams of both children had me otherwise engaged.

- Today’s three monthly Ear Nose and Throat appointment revealed what we’d been expecting but dreading: G is now experiencing hearing loss, and grommets are imminent. She’s been on antibiotics for 3 months but with no positive impact. Thankfully the results from her pressure test (testing for fluid behind the ear drums) have given us a 10-12 week reprieve.

- Last month G got glasses! She’s been desperate to have her very own pair for months, though the excitement has worn off somewhat. Back to the opthalmologist and consultant in three months to assess the impact. It’s all about the three months at the moment!

- So I told the babe she needed a repeat blood test. Most days she asks when this will be. September babe, ages away. Not in her mind. Bless her and her anxiety! Her next endocrine appointment is in October so we’ll be booking in with the play specialist just ahead of that. Let’s hope the blood doesn’t clot this time.

- Bank holidays....an extra day’s lay-in, Sunday evening at the local, maybe even a mini break? Or perhaps the littlest boy having an operation, closely followed by Daddy having one three days later. Little H is having straightforward surgery to find a missing piece of his male anatomy, and Daddy is having slightly more complicated surgery to remove a whole disc from his spine. Gulp. A fairly swift recovery for little H, not so for Daddy. GULP. No work for some time, no driving for some more time, and no picking up the babes for a long time. We LOVE you. Prayers much appreciated <3

- Amidst the chaos this weekend, me and my wonderful hubster do have the rare treat of a belated Christmas present to a beautiful outdoor theatre. Thanks Mum & Dad!!

So that’s us all up to date! We’re officially on the countdown to school resuming (my ex-teacher self would never have celebrated this!), also to the Turner Syndrome Annual conference in October, and of course to making it to the other side of this bank holiday weekend...

What's worse than telling a needle-phobic child her bloods are due?

Telling her she needs her bloods doing again as her sample clotted and couldn't be tested!

"Mum, how often do I need blood tests?" asks G (generally before and after most blood tests).
"Usually annually, which means every year G. However sometimes you might need it half way through the year."
"Ok then, so I had then done when I was 5, so I'll not need them until I'm 6?" she replies, a twinge of hope in her voice.
"Hopefully so, yes," I say. Knowing I can't promise it will be a year.

~

G had to attend her latest paediatric endocrine appointment with Daddy as I was tied up elsewhere with little H and his MMR jabs. Daddy was a tad nervous as he knows that when it comes to G, my brain is full-to-bursting with questions, and information. But I'd sent him armed and ready, and he did good (McDonalds and all......):

• As expected, G is continuing to grow well. Another 3cm in just as many months. 
• Due to headaches, and general pains, G's daily injection dosage is being DECREASED, with a view to reassess in 3 months time.
• The results of the bloods were non-existent due to aforementioned clotting saga.  
• G will need a 24 hour blood pressure monitor next week as a result of some high readings, and also the headaches. How it will be possible for a 5 year old to wear a blood pressure monitor for 24 hours, function as normal, go to school, and have accurate readings I do not know!

So, we await the next appointment, and then go through the rigmarole of booking in with the paed team and play specialists to get another sample of blood (hopefully minus the needle slipping out, and the wrong pots being used!). We are also awaiting ears and eyes again, but generally she copes fairly well with these now. Thankfully.

In other news:

G only has a few more weeks left in reception class. How has that happened? She is still no school lover, and thus the prospect of a 6 week break is filling her with great joy. The end of the 6 week break and return to school is filling me with dread...

We had sports day yesterday. I say sports day in the loosest sense of the term (non-competitive), but she still thoroughly enjoyed herself, and I was still a beaming mumma cheering her on from the sideline.

Daddy has his big operation in August. No work, playing with the kids, lifting the kids, or anything (including lawn mowing, much to his disgust) for 4-6 weeks. We're praying for a safe op and speedy recovery so we can have daddy back to normal, minus the nasty pain he's had for the past few years.

G is powering through her daily antibiotics, and her left ear is playing ball so far. Lets hope it continues.

Countdown to Cornwall. Eeeek, not long now, then lots of quality family time. This sunshine best stick around!

P.S. Did you see any Turner Syndrome posts for Turner Syndrome awareness day on June 21st? My newsfeed was CRAMMED full. I was, and am, so proud to be a part of the TS family, and to have amazing G as my daughter. 

It was a 4 stickers, McDonald’s and new nightie kind of morning!

Why have three appointments on separate days when you can have them all at once? In theory it seemed like a good idea: less parking fees, only one day of the holidays interupted and only one bout of anxiety for my babe. But when one of the appointments involves a blood test, one appointment would have been MORE than enough! 

I’d even thought we’d managed to save time by getting the magic cream applied prior to the hearing test. But no, we spent the entire morning at the hospital. Her least favourite place. I didn’t even have my morning cuppa. I could have REALLY done with my morning cuppa (perhaps laced with brandy!). Especially given that it took 3 veins, and a needle ejecting itself from G’s hands to get just a few drops of the red stuff. 

Twenty minutes of screaming and being begged to go home, and we finally left the paediatric unit (with G clutching a new Frozen nightie that the play specialist had given her). Unfortunately we then needed to head back to Ear Nose & Throat for an appointment with the consultant ... what G didn’t need upon arrival to ENT was two student doctors wanting her entire medical history, and using her as a mini case study. Thankfully their enthusiasm, kindness and abundance of stickers ensured that G became a willing participant. She even showed off her war wounds from the various blood test attempts! 

So to summarise today’s events:

- G has had such a bad run with her left ear that her hearing is now slightly impaired, and she is on a three MONTH course of antibiotics. Then if all else fails, next stop is grommets (can you imagine the angst a cannula would bring?!). 

- When the needle slips out of the good vein, and several more veins need stabbing, no amount of blowing bubbles and Julia Donaldson stories will bring about calm.

- Appointments don’t get easier with age, the screams just get louder, and the restraining trickier. 

- McDonald’s chippies still have the ability to turn my girl’s day around! Thank you Golden Arches. Though may I suggest you source some of the strong stuff to slip into mummy’s Coca Cola next time...

And when I next get questioned about whether my daughter needs to have her bloods taken in the Paeds unit with a play specialist present, as opposed to the path lab, I shall let G to scream for around 20 minutes and then let them make up their own minds.

In other news:

- We had an AMAZING time away at the seaside. You can’t beat family time, wildlife and the sea air. 

- Mummy has a new job. Just a couple of hours a week, no stress, no hassle, no childcare, no planning marking or assessment. One day, one day maybe I might return to teaching. But then again I might not. 

- G is back to see the endocrine specialist in June-top of the hit list is growth, constant tummy aches, high blood pressure (and that’s not mine!), and blood work results.

- Little H has his surgical consultation in June. 

- Daddy has his surgical consultation in June.

- Mummy has a mini biopsy of a nasty in her mouth in June (I’ve been assured mini nasty is not so nasty and it’s procedural, that’s all.)

- Mummy will be rocking in a corner by the end of June!

Oh and I’m going grey. GREY!!!!!! 

Mental Health Awareness Week-Anxiety

New mum anxiety can be crippling. And You don’t need to be a new mother to fall victim...

When

When it’s easier to stand in the playground, head down, smiling at the baby instead of talking to others.

When it’s easier to invite friends to your home, than it is to venture out and away from your safety bubble.

When it’s easier to not respond to invites, and to just turn up if the mood takes you. Even though it probably won’t, because it’s easier not to.

When you think you can brave driving somewhere to do something, but it’s easier to turn around even though you’re seconds away from your destination.

When it’s easier to decline an invite to play group than it is to deal with the anxiety of going in to that HUGE room.

When it’s easier to find a reason not to make plans, or to cancel plans. Not lie. But find a genuine reason. The baby didn’t sleep. The baby is poorly. Too much washing to do. Tired. The baby needs to nap. Can’t upset the baby’s routine-Anxiety central waiting to detonate IF we upset the baby’s routine. 

When you know you’re leaving your babe in safe hands with a loved one, but attempt to eradicate every possible hazard before you leave, and then worry the whole time you’re out, about every hazard that you didn’t manage to control. 

When it’s easier to say no because saying yes means cramming that full-to-bursting brain with even more anxieties. Like how to prevent babe screaming in the car, like how to navigate around nap times, and school pick ups, and lunchtime, and, and, and.....

When in theory it would be amazing to ask that Mum friend to go to that all-singing, all-dancing, baby-must-socialise group, but in reality it’s easier not to.

When you CRAVE the company of other mums, to join them for coffee, to natter about how much your baby doesn’t sleep, how much he won’t eat, his first steps, first words. To share how crazy yet beautiful life as a mother is...but it’s easier not to.

When you’re in a constant state of agitation. You mind is thinking ten, twenty, fifty steps ahead. 

When it’s only 8am and you’re trying to figure out how to get the kids fed between the afternoon school run and the swimming lesson, despite the fact that you have over an hour, and manage to do it week in week out...

When you look at those gorgeous eyes, that gorgeous smile. When you know it’s all about them. When it’s warts and all. Anxiety and all. But TOTALLY worth it.

When.