The heart of it

Our heart beats over 100,000 times a day and pumps around 1.5 gallons of blood per minute. Fetal heart cells can start beating at a mere 4 weeks.  Our hearts are incredible, intricate, essential to human life. So when you or a loved one has a problem with such a vital organ, it can be terrifying.

We had amazing support and care from John Radcliffe Hospital when G was in utero, and thankfully she had no major issues with her heart when she was born, unlike some babes with Turner Sydrome.
So some of you will recall our shock just under two years ago when we found out that G had a hole in her heart. A hole that should have closed after birth. A patent foramen ovule.

Well today, after many prayers, lots of worrying, and consideration of potential implications such as heart surgery, we found out that the hole had closed.  Hurrah! Thank God! I cried......embarrasing!
G was such a gem during the echo. Yes she screamed (so much infact that we had several additional staff join us pulling every trick out of the hat), but job done. Hole closed.

Sadly the news was followed with 'but her aortic valve is slightly abnormal and and we will monitor this again aged 5'......but that didn't phase us. Our consultant was calm,  kind and reassuring, as he always is. Unfortunately we also found out that he is retiring and will no longer be G's cardiologist. Still, we are thankful of his fantastic care up until now, and of G's hole-free heart.

Holiday happiness
We've just returned from a weekend away at G's favourite caravan park. Despite being unwell,  she had a blast. Sea air, football, tree houses, sunshine (not forgetting the rain) and a healthy dose of Nanny and Grandad were just what the doctor ordered. For all of us.

No appointments until when?!
June. Surely that's too good to be true?

Light hearted humour
So many sayings and questions that have had us in stitches recently. Here are a selection for your amusement:
* Why did a lady used to be a girl?
* Daddy can we turn the radio over to radio 4 please?
* Why does it have to be light when it's summer and dark when it's winter?
* Why does a girl have to stay a girl? Can't she be a boy later?
* Daddy go faster.....I can't G it's a 30mph road. ...well find another road then daddy!

Oh and as for living in a bungalow -turns out she doesn't want to have a staircase. ..no naughty step. Mystery solved!

I don't want to wear a coat, I want to live in a bungalow

And of course that argument for not wearing a coat makes perfect sense...
This past week has been one of numerous arguments and tantrums. Not only has G turned into a threenager, but we've also embarked on a sleep programme which currently is causing more harm than good.

G turned 3!
I actually cannot believe it. We now have a beautiful three year old. Mind you she's 3 going on 30.
She managed to make her birthday last for approximately a week, and boy did she milk it... Prior to her birthday a family get together with Mr Tumble cake number one; on her birthday a family get together with Mr Tumble cake number 2 AND a Mcdonalds (what else would you eat for birthday tea??); several treats with friends; and of course the obligatory 'it's my birthday so I can boss you around' attitude which came in bucket loads.
G was spoilt rotten and thoroughly enjoyed her birthday week. We all did,  especially the cake. Daddy is fast becoming a gluten and dairy free birthday cake expert. So much so that G was more thrilled at the arrival of her cake than her daddy!

Blood results
Several weeks back we took G for an array of blood tests-some routine, others to ascertain why she is unwell so often. Results thankfully came back as negative, though one marker for infection was under the normal threshold. That said, nothing can be done about this. I'm pleased though that nothing untoward was discovered. Now bog off please infections....

Imminent heart scan
As with many things, you'd look at G and wouldn't even consider the fact that she had a heart condition. I often forget.  But when I remember it scares me.  In two weeks time, we should know whether that ratbag (as G would say) of a PFO has closed naturally, or will require surgery.
Prayers of both thankfulness and healing will be plentiful.

Sleep clinic
Everybody knows that sleep is a taboo subject for us. So we were delighted when we were finally referred to a sleep clinic. I was skeptical at first, but after a  fruitful discussion with the specialist I left armed with a 2 week programme to follow. I felt hopeful. Positive even. A solution to G's sleep difficulties were  promised.
Fast forward to day 6, and my skepticism has returned. And that's an understatement. The dummies have been sent to the dummy fairies, the sheep has ceased to play his sweet (if not slightly annoying) lullabies, and our bedtime routine now includes an abundance of melatonin inducing activities. We are following the programme TO THE LETTER. However.....
We now have a child who not only wakes upto 8 times a night still,  but who no longer drops off to sleep the minute her head hits the pillow, who cries continuously before bed and at regular intervals in the night, and who will do everything including throwing a full blown hissy fit to avoid bedtime. Nothing can soothe her. No one can calm her down. She is often inconsolable. Needless to say I'm not looking forward to the follow up appointment next week. I might just lose the plot with them.

Countdown to caravan time!
As a birthday treat we booked a mini break at G's favourite caravan site. So we are on holiday countdown in our household. It is MUCH needed by all of us. Thank goodness for payment plans and her love of a cheap seaside holiday! Hopefully the sea air will have more success inducing sleep than the sleep programme....

And so here we are. Tired but happy. Happy to have such a fiery, funny three year old. Her abundance of hugs keeps us going, as do her quirky little recounts of the day's activities. ..."So today I was taking my socks off and they all laughed.  Literally they didn't stop. Soooo hilarious"
I need some of what's she's on ;)

I photographed a poo....

I know what you're thinking.....gross, vile infact,  but it was a momentous occasion.
If you've potty trained a child at any point in your life,  I'm sure you'll share my enthusiasm for all things poo and wee (so long as not in pants or on the kitchen floor!). So after 8 months of can she/can't she, we've established she can. We're incredibly proud of this milestone,  and celebrated it with a trip to the museum, lunch out with Daddy, and a new set of sparkly pants. Hurrah!

Half term has been fairly manic for us. Yet another ear infection (I'm not sure she fully recovered from last week's infection), yet another trip to the Doctor, and yet another series of 39.5+ temperatures. Boy those high temperatures scare the heck out of me.

This week also saw a visit to G's paediatric endocronologist and thank God for this fantastic lady. I fire away with my million and one questions, state that I categorically do not want to set eyes on the new ENT ever again, and demand tests to determine why G is always ill. She listens intently, smiles politely, and fulfils every request. Even when the appointment is seeming to draw to a close, and I pipe up with 'oh and can we just discuss....' she still remains polite, professional and genuinely interested in our concerns.

The big news now is that G's growth has virtually stopped. Almost 12cm last year vs 1cm in 6 months. That coupled with some news regarding Gs bones (via blood test) and we ended up in the x ray department getting a routine x ray of G's wrist to check for bone density. 
She will now be seen by our consultant every 3 months, and growth hormone injections are potentially within touching distance.
Thyroid function is also going to be closely monitored because, whilst it's within the normal range,  it's teetering close to the edge.

With regards to the dreaded Ear Nose and Throat saga, we are hopefully being referred to a friend of our endocrinologist who-we are assured-is also an excellent paeditraican and incredibly understanding. As I am much calmer than when I last blogged, I can now elaborate on why we refuse to see our new ENT again.....it went a little something like this
'All kids get infections....all kids are snotty. ....10 years ago we'd have routinely suggested grommets and other minor surgeries but now the NHS has no money.......back when I was a child we played on the streets with streaming noses and it was the norm......ear infections won't cause any hearing loss.....her ears are ok now......well the TS society would say that won't they......I know you may know more about Turner Syndrome than me but.....'.
To add insult to injury ' oh, and LUCY won't have anything considered anyway whilst she has a heart condition'

So now you see why I refused to be within 10 feet of said consultant. Watch this space on ENT developments. I will do anything to get the best care for my amazing, beautiful, loving little babe. Dare anyone stand in my way.

In other news:
● We've got our first scheduled appointment at the sleep clinic.  A much anticipated appointment. Three years of no sleep gets a little tiresome....!
● G turns 3 in a few weeks. Three years old. How?
● Our first ever trip to the theatre was a success, for us anyway. G's pirate obsession saw us at a local production of Treasure Island, and all was going swimmingly until Long John Silver turned up. We never did find out who got the treasure.
● Kins- we've all been renamed Kins. Mummykins, Winniekins,  Daddykins, you get the picture.
● Why is fast becoming the longest obsession yet,  and the questions are just getting harder to answer in toddler speak. Why can I sometimes see the moon in the daylight?  Why is the moon sometimes a circle and sometimes a banana? Why do doggies sometimes go to sleep and never wake up? Gosh G, what will you be asking me when you're 5, 10, 15 years old?
Love how her beautiful mind works. Her incredible memory too.

Despite such a mad half term, I've loved every minute with her. Her smile, her giggles, even her cheeky little comments that push the boundaries. I'm so proud of who she's become in just 3 short years.  Especially when I think back to the numerous times we were told she wouldn't even survive. She continues to defy the odds and show everyone her strength and character.

So that's our round up, I best get back to watching James Bond before I have to start annoying hubby with catch up questions!

Our first mother-daughter Turner Syndrome 'chat'

Last Thursday on our way to the hospital G asked me a question that I'd been anticipating.  Why do I go to the hospital lots?
Knowing we wanted to be as open with her as possible from a young age, I decided to seize the opportunity....

Because you have Turner Syndrome sweetie.
Does Hats have Turner Syndome mummy?
No G she doesn't.
Well you and daddy do don't you?
Actually we don't darling.
Oh. Well who does then?
(Thankfully we'd recently attended a local TS meet up)
Well do you remember when we went to the restaurant on Sunday for a Turner Syndrome lunch?
Yes mummy...
Well R who you did the picture for has it. So does HM who you also did the picture for. And I and G who sat opposite you at the table, and also S.
Oh. They have Turner Syndrome like me?
Yes sweetheart.
Can I have chocolate after hospital??

Bingo. Although the word Turner Syndrome is not alien to her- she has a teddy bear called Turner,  a TS hoodie and we've attended 2 local meet ups with her- we'd never actually told her she has Turner Syndrome.

She won't fully appreciate and understand the full effects of TS for many years to come, but another fact that I know we will need to slowly drip feed is the fact that nearly all girls with TS are infertile.
G is obsessed with babies at the moment-to the point at which she is begging us to have another one, and is frequently shoving babies, pillows and cushions up her top. That breaks my heart. For her.
That said, we will also make it clear that you don't always need to be a tummy mummy to be a mummy. Thank goodness for fertility treatments, adoption and whatever advances in technology will occur in the next 20 years.

Those of you wondering whether the hospital appointment in question was THE appointment......the much anticipated referral to a new ear, nose and throat consultant. It was. And what a shambles. I'm still so incredibly angry, furious infact, that I'm not going to discuss it today.

To end on a lighter (and slightly grottier) note, this occurred yesterday. It caused my sister much hilarity and disgust, in equal measures...
I've got a bogey in my mouth!
What?!
(G proudly presented her tongue with a rather large green friend balanced precariously on the tip)
That's gross you don't eat bogeys, you only eat food! Does it taste horrible?
No its yummy.
Surely not...
No actually it's yummy scrummy!

And I'll leave you on that note!

Head, shoulders, knees and toes....

...eyes and ears and mouth and nose.....

Eyes: We've been attending the opthalmology clinic for the past year in a bid to find out what most people would ascertain in one appointment! It's taken a year due to her distaste of anything 'hospital', but finally, we managed to get Grace seen by her consultant. 
Tears. 'Where's the monkey?' . Eye drops. Screaming.  Chocolate. 30 mins in the coffee shop whilst said drops dilate pupils. Screaming.  Lots of role play by the surprisingly child-friendly consultant, and bingo. G is on the verge of being short-sighted, which caught us unawares actually. We had no real concerns about her sight, it was only due to her Turner Syndrome that she was referred. 
No imminent action required, other than regular tests to determine when she crosses over into the realm of being a wearer of glasses. I had initially thought that Grace had inherited mummy and daddy's bad sight, but it seems that there may actually be a TS link.

Ears: Our New Years eve appointment didn't disappoint-over an hours wait and we left prior to our appointment with a distressed G. I'm not actually that upset as we have our first appointment with our new consultant next week. Let's hope to be taken a little more seriously from here on in. Especially with a suspicion of glue ear, on top of many recent ear infections, and the constant ear 'itching' as she calls it.

Mouth: Night time - cough cough cough. Wake up.  Cry. Sleep. Cough cough cough. Sleep. Wake. Cry. Sleep. Wake. Yes she's always had sleep problems, but the more I think about it, the more I become convinced it's all linked. Ears, nose, throat, small canals/tubes, inflamed canals/tubes. Adenoids? Tonsils? Both? Neither? Who knows. Hopefully the new ENT.....

Nose: I swear G has not been able to breathe properly through her nose since she was born, especially at night. That coupled with a constant dripping tap of translucent nasal discharge and then there's also the suspected sleep apnoea .... that's a few more to add to the list for our new ENT consultant!

In other news.....G has achieved a several more gymnastics badges since I last blogged. As many of you know she has bags of energy, and gymnastics is the perfect release for her. In addition to the gym classes she's also started swimming lessons, which she adores. A perfect early Sunday morning activity for G and Daddy whilst mummy watches from the sideline with a cuppa :)

Not much else to report other than the fact that Grace wants to know when it will snow next as she had oodles of fun pelting Nanny and Grandan with snow balls.  She would also like any of you who are holding onto the last legs of Christmas to remove your decorations and lights. She's confused and doesn't appreciate the fact that mummy and daddy took hers down!

That's your lot for now....
HAPPY NEW YEAR TO ALL OF OUR FRIENDS AND FOLLLWERS xx

Has Father Santa Clause been?

G has been bursting with the joy of Christmas this December. That is on the days when she hasn't been ill...hmm...  G has been ill this December!

We've frequented the out of hours, our local surgery, and the walk in centre due to numerous infections. Throat and ears, but ears mainly.
To combat the ongoing problem G was upgraded from banana medicine to some horrendous tasting, vomit inducing antibiotics which ended up doing more harm than good. So four days before Christmas on the advice of the Doctor, we went cold turkey.
She is still riddled with cold, but her ears appear to have relented for now.

Christmas
We had a fantastic Christmas day. Love, family, food, sharing, giving, happiness. Though tantrums were two a penny. But I guess for a toddler who is a stickler for routine,  and has a tummy as delicate as a flower, she was bound to go a little crazy with the food and gift frenzy! Routine was restored at bedtime,  and she slept like a log (almost) for the first time in weeks.
Aswell as G receiving some lovely gifts, I received a truly thoughtful gift this year. My amazing husband combined my love of writing this blog, and my dream of becoming an author to create my very own hardback copy of Short 'n' Sweet, volume 1. Seeing G's story in print, hundreds of pages of print, reminded me of what an inspirational little girl we have. A beautiful God-given child who has defied the odds.

The A word
Four appointments in the forthcoming weeks. Ears-old consultant, eyes, more in-depth eyes, and ears-new consultant. Four appointments that involve physical contact. Habitual utterings of  'Don't worry they're just talking to mummy about you, they won't touch you' will be null and void!

So for us now,  back to thank you cards and playing hairdressers/babies and mummies/Fireman Sam, just like any other 2 year old. Only, one that's missing a tiny little chromosome.

Wishing you all love and peace for 2016

The problem with a high pain threshold

The problem with a high pain threshold is that G doesn't often realise how poorly she is. We have to second guess. Fit together the pieces of the complex puzzle.
Do your ears hurt? They Tickle.... how's your mouth? My teeth and tongue are sore.... do you feel poorly? A little bit but I don't need to go to the doctors....This is a classic trait of Turner Syndrome.

So today we've mostly been sat in the overcrowded pen that is our local walk in clinic. Standard winter behaviour in the Chapman household, (we need reservation signs for the out of hours!)
This virus has persisted, but after 7 weeks and numerous dismissals from various clinicians, G has finally got some antibiotics.  Winter ear infection count 3 - G 0. Plus a throat infection for good measure.

ENT
Finally I've initiated the re-refferal process so that we can get G a new ENT consultant. Our GP has even stated that long term care will be necessary. In the meantime the decision as to whether to keep our current appointment with our less than favoured consultant for 2 weeks time.  Watch this space!

ROLE PLAY
G is obsessed with role play... Caring for her twins and cleaning are the activities of choice at the moment.  So when we took delivery of a Little Tikes sink and stove with fully functioning tap last week, she was beside herself. Literally. The first thing she asked for upon waking the next day was to wash up.  At 6am. Maybe I'll benefit from this in 10 years time?!
She's also made sure to tell santa that this year it is vital that she gets a double buggy, double highchair and double car seat for her twins. I love watching her play. Especially when I hear my sayings creeping into her role play dialogue.

CHRISTMAS MAGIC
Christmas is magical this year for G. It's the first year thats shes been able to take it in and start to appreciate the joy of it all. The chocolate, the lights, the stories, the advent calendar. Especially the advent calendar. Having sourced a reasonably priced dairy free calendar,  I knew that she would be excited. But little did I know that our usual evening whisperings of 'love you, kiss kiss' would be replaced with 'so when I get up in the morning I can have another chocolate can't I? '
Sadly we've missed our Carols by candlelight service today, but we hope to visit a Bethlehem reinactment at our local church soon. That and an obligatory visit to Santa's workshop next week.

FEELING THANKFUL
So with the last week of term coming up, and finally getting moo on the road to winter bug recovery in time for Christmas, I can safely I'm thankful for several things right now:
The NHS, regardless of how overcrowded it's frontline service was;
(Almost) completing a term in my new school;
Having a beautiful daughter who takes all things in her stride;
And having an amazing husband who puts up with all my hysteria about G and her health.

That, and having an incredible God who looks out for us all. 

Next post, CHRISTMAS!