Santa is dairy free!

When we visited Santa in his Christmas barn several weeks ago, the one thing that stuck in G's mind was Santa saying he was lactose free and thus wanting a dairy free chocolate cake as opposed to a mince pie this Christmas. 

I think G was secretly chuffed to find someone else with similar food intolerances. We still don't know if her issues with gluten are caused by coeliac disease, which is linked to Turner Syndrome. I'm not brave enough to feed her gluten every single day for 6 whole weeks!
She told me the other day that she would like to open a gluten and dairy free restaurant where she could eat everything on the menu. I'll be her first customer...

G has been having ongoing tummy trouble, and since she's no longer under a dietician or gastroenterologist, I took her to our GP - six months plus of daily tummy woes is quite long enough. He's concluded that, once some bloods have been taken (AGHHHH) just to cover all bases, it is most likely to be 'anxious tummy' 'reflux/heartburn' or a mixture of the two. So once I muster up the courage to take her to the hospital for what is now SEVERAL sets of bloods, we will hopefully know more. And at the very least try her on some reflux medication.

In other news:

SCHOOL NATIVITY: Well I never, did you ever hear of aliens at the nativity?! Little G stood proudly on the stage at this year's school nativity and recited her multiple sets of lines whilst doing her best alien impression. This babe has taken 4 years to stand on the stage at the annual Turner Syndrome show WITHOUT bursting in to tears, running off, or point blank refusing to join in with one dance. So we were incredibly surprised at her willingness to partake, and her confidence. We were beaming with joy as we watched alien number two...

WINTER GERMS: G was doing so well with no ear infections and just a streaming nose (nothing new there). So when she started having temperature spikes of 40 degrees in the penultimate week of term, we knew she was ready to crash. One dress rehearsal, two performances, one panto, two sending homes, a fainting and vomiting episode and lots of scary temperature spikes later, and G was done. We called time on school two days early as our poor girl was exhausted and drained. She's still not right, but at least we have another 8 days of not having to rush up and out to school. Whether her low immune system is linked to her Turner Syndrome, I'm not sure, but this year we've had a slightly better run up to Christmas than normal. I'll take that!

SCHOOL PANTO: She went! She was determined to go. I so wanted to be there with her. I KNEW she wouldn't cope. That the lights, the sound, the worry, the potential of 'baddies' would be too overwhelming. And it was... However for what it was worth, her teacher got her through. She was in tears for quite some time, and wanted to leave, but they pushed her through. G has since talked about the panto - the bits she enjoyed, and even getting her little brother to re-enact some of the boos and hisses. But that said, she's already told me that she won't be going next year. And nor will I make her.

ANXIETY: When G told me that on Friday's she had been sending her friends in to the playground to look for a boy who had once, on a Friday, pulled her glasses off her face and thrown them on to the floor, I knew she was struggling with her anxiety. When she started getting upset from Wednesday night onwards, not falling asleep until gone 9/10pm and having epic morning meltdowns (more so than normal). I knew we needed to do something. This one incident at school is not the sole cause of her anxiety, she has anxiety about many things (not being with me and her brother during the day, having to sit still during phonics, going to swimming), but it reminded me that she doesn't have five year old levels of anxiety. Her levels are FAR, far greater.

Now I am on a mission to get some support for her. Starting with school, and her paediatrician. Anxiety is associated with Turner Syndrome, and it's a trait of both mine and her dad so she almost has a triple whammy (sorry babe!).  But we'll do our absolute best to help her. Calming music, a fibre optic light and a lava lamp are currently being trialled at bedtime. She was asleep by 8:15pm this evening :)

So, apart from still having not taken her for THAT blood test, that is us.
Hoping you have had a joyful Christmas, and wishing you a peaceful New Year full of love and kindness.

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.

This time next year...

REWIND 13 months....If you'd have put my needle-phobic four year old on Davina's new show 'This time next year' and said that in just one year little G would be having daily injections with ZERO fuss, I'd have said there was as much chance of that happening as her sleeping through the night! The child who would scream the hospital down at the mere thought of being called in to be measured and weighed. 

Well, it's this time next year. My recent Facebook memory told me so... Little G has been having daily growth hormone injections for just over a year.
The change has been phenomenal! Not just the physical change, though that in itself is impressive enough - I am literally needing to buy new everything at the moment. Gone are the days when her summer wardrobe would last at least 2 seasons!
When I sit and think about it, I am in awe of how such a young human can adapt so easily to something that was so daunting. So petrifying. Good job really, she's got another 5,6,7 years of it!

Parent's evening
Little G is two thirds of the way through her first year of school. Where has the time gone? It's been a somewhat turbulent ride (especially the morning tantrums), and school seems to be quite an inconvenience for her ..."Mummy, don't they know they are taking me away from spending time with my family?!" ...but for the best part, the girl is doing good. I don't think she'll ever be fully in love with the idea of school, and I think that sitting still/not fidgeting will always be one of her targets, but things could definitely be far worse.

Conference 2018
EEEEEK, we've booked our place at the 2018 Turner Syndrome conference, and I am ecstatic! More so because we really couldn't afford to attend this year, and a local charitable trust kindly agreed to cover the full cost of the conference for us. AMAZING. We are so lucky to have the incredible support of the Turner Syndrome Support Society, and equally so to have a charity who are willing to pay in excess of £500 to allow us to have access to a weekend of vital support and information. It's not to early to start a countdown is it?!

Heart update part 2
I had a call from G's heart consultant the day after the previous blog update. She wanted to inform us that she'd like to see G in one year as opposed to the two years that she'd discussed with us after the scan. Whilst she told us not to panic, she did feel that once she'd analysed the data she felt G's measurements were at the upper limits of normal. NORMAL still though. A little panic ensued, but we concluded that they are most likely being cautious. Caution trumps carelessness!

In other news:

• G loved her caravan holiday, standard! And we're often again in May. Hurrah for budget caravan holidays which you can pay a few pound towards each month. Change of scenery is good for the soul.

• Baby H is 1 soon. ONE. How?! G loves baby H. Like squashes him with her over-zealous hugs kind of love. So beautiful together. 

• Mummy tried working a night time job. Mummy failed. Turns out exhaustion from general non-sleeping kids and mummy duties PLUS exhaustion from working late into the night/small hours = a recipe for the worst ever non-alcohol related hangover. Mummy is attempting to become a mumtrepreneur, though this may be a long term project due to the obvious lack of dollar! On the plus side it's a total blessing being able to do all of the school runs, being there whenever G needs me, and spend my days with baby H. Every cloud...

Oh, and did I mention that G sleeps through the night at least 5 out of 7 days now?! Who'd have thought...

Miracles

Hearts are phenomenal. They beat around 110,000 times a day (for an average adult) and pump around 2,000 gallons of blood around our body. Did you know that the youngest person ever to have heart surgery was only a minute old?!

I remember when we first were told of G’s Turner syndrome, we focused on the life and death statistics, the ‘only 1-2% survive pregnancy’ statistic. Initially there was no mention of cardiac function. Cardiac problems. So when were were sent to Oxford’s John Radcliffe hospital for our first uterine heart scan (roughly at the mid point of my pregnancy), I was terrified. Why? What problems were they anticipating? It must be major if they aren't even waiting until she’s born. Luckily for us, for G, some of the common problems associated with TS (namely coarctation-narrowing-of the aorta) were not affecting our unborn babe.
We do know of girls, friends, within the Turner Syndrome family who’ve had surgery when several days old. I couldn't imagine the fear their dear parents would have felt.

So today’s fear over G’s third (or is it even fourth?!) scan in her little five years seemed somewhat irrational. At the last scan we were told her patent foreman ovule (hole) had finally closed, and that she had some slight abnormality if the aorta. But generally it was good news...

But it’s her heart. Our precious girl's heart. Hearts are the life and soul of the body. And heart problems can develop over time with TS, so we can’t be complacent. 

Now as mentioned in previous posts, G is beyond petrified when it comes to anything medical. So we knew that today would be a challenge. She screams the department down at every appointment regardless of whether anyone is touching her. Darn, today they needed her to be perfectly still, not hyperventilating and not trying to kick anyone that holds her down. Especially not the consultant. Prayers were needed. 

When the tantrums started earlier in the week, we knew why. The tears at bedtime, the anxious tummy, the not wanting to go to school, or eat her tea. It was all the pre-echocardiogram build up. The anxiety was through the roof.

So you’ll imagine our shock today when her name was called. No tears. When she strolled into the room after the consultant. No tears. When she laid as still as a statue on the bed, when they squeezed the cold jelly on to her chest,  and then performed the scan. No tears. For me it was one of those jaw hits the floor moments. 15 minutes later, scan over, not a single tear.  Shocked doesn’t even sum it up. A miracle for our miracle. Thank you for your prayers!

Results: a slight asymmetry of the aortic valve (which should look like a Mercedes badge, but in G’s case it’s uneven), but that’s all. Next echo when she turns 7. 

Phew. Thank God. The relief was almost overwhelming. 

TS maths research 

We’ve had the loveliest researcher from Cambridge University come and work with G recently. Rosie is conducting a study into maths difficulties and is focusing on Turner Syndrome (around 50% of our girls struggle with maths), and also people with discalculia. Now anyone who knows me knows that I LOVE maths, so I’m incredibly intrigued by this research. I can’t wait to read the findings!

First school assembly 

This morning before we whisked G off to her heart scan, she had her first ever class assembly. Eeeek! As a teacher they were always a huge stress of mine, but parents love seeing their children perform. Today’s was amazing. Nothing special to Joe Bloggs- it wasn’t all singing or all dancing,  but I thought it was outstanding.

TS SOAR study 

For the past few years at the TS conference we’ve been joined by Professor Skuse and his team from Great Ormond Street Hospital Institute of Health. They been conducting research into the wellbeing and behaviours of girls and ladies with Turner Syndrome. As G had recently turned 5, we are now eligible to take part. The beauty of this study is not only does it raise awareness of non-physical elements of TS, but it paves the way for future interventions that could help our girls in/with everyday life.

It’s all about the research and the knowledge. Knowledge is power!

In other news...
G didn't have to wait until she was 17 to get her first car, nope her Uncle surprised her for her fifth birthday. Not just any car either - a Mini. Now driving is quite a worry for us TS parents, especially knowing that spatial awareness can be problematic. However she’s managed to navigate herself around most obstacles. For now!

G had a hair cut, and didn't scream. This is big news. Are you spotting a theme today?! Still screams when her nails are cut though...

We are off to G's favourite holiday haunt soon. Lots of caravan fun with the family. Admittedly we all need a break, and we love caravans :) I'm not so sure how the rest of the site will cope with a babe who's up all night...nope not G, but H. Good job I have 5 years experience of a non-sleeper on my mumma CV!

~

White coat syndrome

Today G had a routine appointment with her paediatrician. Now you’d think that after nearly five years of regular hospital visits, G would feel at home at our local hospital. Today’s Blood pressure readings said otherwise!

Hormones, headaches & hearts
It has been 10 months since we embarked on G’s growth hormone journey. As I’ve said many times, she is an absolute star with her daily injections now. No bribery has been required for numerous months. Today her consultant reviewed her growth and concluded that the hormones are having the desired effect. Just under 9cm in 12 months. Around 5cm is average. BINGO!

Many people question whether G will be shorter in stature (as is symptomatic of Turner Syndrome), especially due to the recent acceleration in growth. But this will not always be so. Five foot will still be the goal, the latter end of four feet is highly likely. No big deal, height is no indicator of happiness or success. Though how many firefighters come in at a similar height?! Mind you she’s recently been enquiring about becoming a dental nurse, so maybe she’s finally over the fireman Sam and firefighter Penny stage!

There was a question mark over whether to increase G’s daily hormone dosage. However as she’s been experiencing some headaches and dizziness, it was concluded that this wouldn’t be wise at the moment.

We are awaiting a heart scan for G, as per the request of the cardiac consultant who saw G two years ago. There did look to be some minor abnormalities of the aorta last time, I’m praying this isn’t so now. We know the hearts of our TS girls are precious.

Speaking of hearts, today G had her first ever blood pressure reading. Oh my, you’d have thought they were taking her blood. Once we’d had a demo on mummy, and checked every aspect of the cuff and machine for hidden nasties, we sat watching the special numbers on the monitor. Sadly for G the special numbers were rather high and now she requires monthly monitoring. Here’s to hoping it’s a case of white coat syndrome. It is yet another aspect of Turner Syndrome though.

G is due a follow up appointment and bloods in June. Bloods require us to spend time on the paediatric assessment ward with the play therapists due to G’s severe anxiety surrounding any medical procedure. Can’t wait for the heart scan....

In other news:
G is loving half term-today we made leek and potato soup which she devoured.
 H is desperate to crawl, and mummy needs a job. Boooo.
Oh and as lent begins tomorrow, I’ll be doing my annual social media amnesty. I’ve actually been looking forward to it... pick up a pen and paper if you’ve got our address :)

Comfort in creativity

Back in the autumn of 2016, I was invited to attend a parents workshop. All I knew was that it involved textiles-quilting, and an exploration of our thoughts and feelings regarding our daughters’ infertility.

Now, without wishing to offend, quilting (or my narrow-minded view of what this entailed) was far from the top of my ‘to-do’ list! However the location of the workshop was close to home, and a handful of mothers from the best ever extended family would also be joining. I was sold. Dubious, but sold.

On the Afternoon of the workshop I travelled the 20 or so miles to mamma C’s house, had a mild anxiety attack mid journey (that darn roundabout wasn’t fit to be called a roundabout-you should have to take a test to navigate that monstrosity!), but arrived raring to go.

I was instantly made to feel at ease, especially upon seeing several familiar faces from the Turner Syndrome family. That plus my pain-in-the-rear food intolerances had been more than catered for. So it was tea, sandwiches and cake aplenty. After some brief catch ups and some new introductions, we settled down with anticipation of what was to come.

So what exactly was to come, and why?
Whilst sipping tea and eating cake, Amanda Clayton and Dr Jacqueline Collin were introduced to us. Some years earlier whilst Dr Collin was researching her PhD thesis, she had been moved by the sadness experienced by mothers of girls with Turner Syndrome - more specifically regarding their daughter’s fertility.
So as a result, the collaboration between Amanda - a fine artist, and Jacqueline (and Kings College) was born. They were keen, via the arts, to give a voice to mothers of daughters with threatened fertility. To me and others like me. In addition to this, they wanted to create a tool that would aid the future teaching of medical students. Textbooks, perhaps the Internet even, only really give a one dimensional view of Turner Syndrome. Of any chromosomal abnormality. But what about the emotional aspect?

During the afternoon we were tasked with each creating a square, or a patchwork of squares, that would be assembled as part of a multi-layered quilt. A narrative quilt.
I still was unsure of what was expected, and what would be produced by the artist Amanda. I guess in my mind I was thinking of a classic quilt. Single layer, patterned, warm, cover the knees on a cold Winter's day!! How could that be a narrative? A teaching tool? How could it be emotive? Therapeutic?!

All in all we spent around 4 hours together that afternoon. Sharing stories, sewing, drinking tea, and after a little time, pouring our hearts out. Our fears and frustrations, but also our hopes and dreams for our incredible girls.

By the time the afternoon had concluded, I had created a square containing broken heart with stitching binding the two sides of the heart back together. I had contributed several personal thoughts which was happy to share on the quilt, and one thought which I had asked to be concealed. Purple  was my chosen colour for the final stitching. I then entrusted my inner most thoughts in tangible form, to Amanda. She would do what she does best-create beautiful artwork.
But I was still clueless as to how I envisaged the end product...

Fast forward to October 2017, a little over a year after the workshop, and I finally got to see the narrative quilt in all it’s glory at the annual Turner Syndrome Conference....

WOW. I was blown away. It was so far removed from what I had imagined. I was almost embarrassed at my total ignorance surrounding textiles work. The material edges were raw and somewhat unfinished. Much like the raw emotion. The layers, the depth, go some way as to reveal the complexity of the condition. The cold hard medical facts on one side of the quilt to me represented the information you are first given with a TS diagnosis. The ‘textbook’ stuff. With the flip side of the coin (or in this case the quilt) being the personal story. Each layer a different story. No two stories or girls or families the same.

I had never imagined in my wildest dreams that a piece of textile work could be so stunning. So emotional.  But then I guess I had a vested interested in this art work. Part of this was my own raw emotion. It was about my beautiful miracle. My little G.

Since the completion of the quilt, it was entered into the International Festival of Quilts fine arts competition and shortlisted as one of the top 20 entries. It has also been displayed in numerous venues and has triggered many emotional responses.
Further to that, it has been used as a teaching tool, and a way of initiating conversations about this very delicate issue. Threatened fertility in girls with Turner Syndrome.

You’ll notice that I started this blog post using the word infertility, yet ended it with threatened fertility. TOne thing I have learnt through this project, and as being part of the TS family is that infertility isn’t a word that is liked or used by many . It’s cold. Clinical. But not only that, it’s not the case for EVERY women with turner Syndrome. The term threatened fertility encompasses all with TS-some women with the mosaic form of Turner Syndrome (only partial deletion of the second X chromosome) may not face the same fertility issues.

So what was the outcome for me on a personal level? I’ve long been a convert to the therapy of the arts-predominantly music. My beloved piano has helped me through untold difficult times. But I would have never considered myself artistic in the textiles sense and I certainly didn't imagine that I'd enjoy such a project.
However for me as one of a small group of mothers to the most amazing, resilient, and caring girls, I found my voice that September day. I found comfort in creativity. And I hope that my own daughter will have the opportunity to do the same one day.

~

Credit to Amanda J Clayton for the photographs. 

Heartfelt thanks goes to Mandy and Jacquie for facilitating this project-Jacquie for your desire to explore a subject so close to our hearts and Mandy for turning it in to something truly wonderful.

Love to my fellow Turner Syndrome mothers (and fathers)

And my heart goes out to my inspirational little firecracker-little G. I adore you.

Tears and tantrums

Oh my. What has happened to my laid-back babe? Who am I kidding....she’s always been highly strung. But this week her tantrums have smashed a whole new level.
The combination of an exciting Christmas break, probably a tad too much sugar and lots of sensory stimulation (not to mention several recent 4am wake ups) has led to little G having a meltdown over anything and everything. On a positive note, the double ear infection has kindly bogged off.

Christmas 2017 was beautiful, despite both children being unwell. Family, food and fun. What more could our babe want? Gluten free stuffing balls and pigs in blankets have fast become G’s favourite festive food, unlike the family tradition of cold meats & pickles for breakfast. I eagerly tucked into my family fav whilst G watched in horror - while eating her breakfast staple of ham and pickle sandwich I might add. ‘Yuck Mum that’s gross having meat and spicy onions for breakfast’. Nom nom!!

Starting back at school after the festive fun and frolics was met with dismay, which is quite unusual for G. She loves school. Quite literally skips there. Tears and tummy aches accompanied the first few days, infact even this evening she complained of a sore tummy and dizziness. Though she has been having a few issues with another child which could be resulting in an anxious tummy. A visit to G’s teacher has been scheduled.

Much to my surprise, when I recently attended a meeting with the SENCo at G’s School, I learned that G had met all of her targets (due to her Turner Syndrome she is automatically under the care of the Special Educational Needs Coordinator, and each term targets are set for her).
It seems that her anxiety has eased somewhat, that she can sit without fiddling or moving for a period of ten minutes -albeit on a wobble cushion and with a fidget toy, AND the girl CAN put on her socks. She’s been fobbing us off....
Her targets for this term continue to focus on concentration, but are now inclusive of social skills. Anything to help make life a little easier for our gorgeous girl. You are AMAZING!

In the coming weeks, G has two appointments-dietician to assess her ongoing issues with milk, wheat and gluten, and the paediatrician. Little H also wanted in on the appointments action, so has bagged himself an appointment with the dietician (milk intolerant-of course he has to be too), paediatrician, and a consultant regarding his delicate bits!!
Daddy is a tad broken at the moment, so he too has bagged a couple of hospital appointments. Parking space with our name on it?! Reduction in parking fees at least.

A hot topic of conversation at the moment is my sister’s recent engagement. G is SOOOO excited by the impending wedding, that she has asked me if she can skip being 6 and jump straight to 7. Rationale? Well as her Aunt is hoping to marry the year that G is 7, she can’t be doing with being 6 and she’s nearly 5 so doesn’t fancy missing out on presents and party. I told her it doesn’t work like that. Her response? ‘Don’t worry mummy, I’ll just do 6 after 7!’.

School and appointments aside, life generally is fairly hectic in our household. Find me a household with kiddies that isn’t!! Between school runs, football karate and swimming, and having two children who are averse to sleep, we are kept on our toes.  Good job I don’t have a job at the moment-I’d need a few extra hours in the day.
Jokes aside, anyone know of any careers that fit round being a full-time, sleep-poor mother, that incorporate my passion for writing blogs and books (or my dislike of plastic packaging), but still pays the bills?Answers on a postcard please...