Who knew?

We're always learning, and I LOVE that about life. Every day really is a school day! So today's post is dedicated to things that I have learnt since my last blog, including some amazing things from our time at the annual Turner Syndrome conference earlier this month.

My most recent revelation came towards the end of  24 hour stint in hospital for G.
WHO KNEW THAT TONSIL INFLAMMATION COULD PRESENT AS SIMILAR SYMPTOMS TO APPENDICITIS?! After being in such severe pain that at times she was unable to walk, the urgent care Dr sent us straight to A&E with suspected appendicitis. That accompanied with a fever, nausea and pain in a very specific location, appendicitis seemed the most logical option.
Only it wasn't.
Inflamed tonsils (which did not hurt G one iota) was suggested as the root cause, and that was that. We returned home earlier today :)

WHO KNEW THAT G WOULD MAKE IT ALL THE WAY TO SIX AND A HALF YEARS OLD WITHOUT AN OVERNIGHT HOSPITAL ADMISSION?! The amount of times we frequented the urgent care centre, and the pediatric assessment unit, it's a wonder how we haven't been admitted before. That  said I'm awfully glad we hadn't...The screaming which accompanied the insertion and removal of the cannula was quite something, and the bed I slept on pulled down out of a cupboard.  I spent the entire night waiting to be catapulted back in-comedy style!

WHO KNEW THAT IN HER REVIEW WITH THE SCHOOL FAMILY SUPPORT WORKER, G WOULD TALK OF HER LOVE OF SCHOOL AND REEL OFF A LIST OF FRIENDS?! Don't get me wrong, from our perspective it can still be really tricky getting her to school. But this half term really hasn't been that bad at all (with a fantastic parents evening too). Well done G <3

WHO KNEW THAT THE PREVALENCE OF A BICUSPID AORTA VALVE IS AROUND 1 IN 300 OF THE GENERAL POPULATION, YET IT IS AROUND 30% IN TURNER SYNDROME?! We had an incredibly informative talk from Professor Bernard Keavney at the conference this year. G's biuspid aortic valve is currently monitored on a yearly basis, and currently presents no concerns. However, due to the potential risk it could pose, we have picked up some more medic style cards which the Turner Syndrome Support Society kindly produce free of charge. These can then be handed to an emergency services worker in the event that G should present with chest pains or shortness of breath.

WHO KNEW THAT LITTLE G WOULD PERFORM THE WHOLE OF THE JUNIOR DANCE IN THE SATURDAY NIGHT SHOW AT CONFERENCE?! Every year we have willed her on on, we've cheered, we've supported, but the anxiety has been too overwhelming for her. This year she did it! I could have cried (I think I did!). We were so proud of our beautiful little miracle.

WHO KNEW THAT FAILING AT SOMETHING COULD ACTUALLY NOT BE FAILURE AT ALL?! This one's for me (and probably lots of you too).....I failed at something that I considered quite BIG last week, a teaching job interview. Only I realised that I didn't fail, it just wasn't right for me. I knew it wasn't right, I had an instinct, but I needed to check. So actually I succeeded in getting one step closer to knowing what does and doesn't work for me, my health and my family.

In other news:

- Our recent Ear, Nose and Throat appointment was a time of great anxiety for G. Generally, at each appointment she has a hearing test and then we find out whether grommets are imminent. Thankfully, yet again we have been told that she is safe for another 6 months.

-As always, the Turner Syndrome conference was a pure delight. The wisdom, the education, the support, the squeals of delight from the girls who have been counting down to seeing their besties, the Saturday night show - no words <3
Honestly if the love and support that is given/shared/shown by the TS family had a red aura around it, then the conference venue would have been visible from space!

- We have a film night on Friday, G literally cannot wait. She now loves a good film, I mean she'll generally watch the same film twenty billionty times, but we can't complain. I'm opting for Beauty and the Beast, not sure if that's top of Daddy's list though...

Mercedes badges and hearts

G has an incredible memory. As a toddler she’d know most of the car makers, along with their respective symbols/badges, including the Mercedes badge.

The Mercedes symbol was used as a visual aid for us at G’s heart scan last March as a way of explaining a slight abnormality of her aortic valve (a valve allowing a one-way system for the blood to flow from the lower heart chamber through to the body). That valve has 3 segments, as symbolised by said carmakers badge, but in G’s case one of the three segments seemed to be smaller.
So when we returned to the cardiologist this month, we knew that this would be of particular interest. What we hadn’t anticipated was that it was a little more serious than just being slightly smaller-it transpired that two of the segments (the smaller one and it’s buddy next door) were working as one, meaning the valve itself was working with two parts (bi), not three. Thus G has a BICUSPID AORTIC VALVE.

Thankfully we have the calmest, most softly spoken, reassuring consultant that I have ever had the pleasure of meeting, and she instantly put our mind at ease.....
* Despite the above, the valve is working as it should, and is not allowing any blood to flow back through (regurgitate)
* Bicuspid valves are actually one of the more common conditions in non Turner Syndrome patients too. I won’t need to fight for care, or research it and educate others.
* G will have regular, and life long care for her heart. Period. No ‘how often should she be seen?’ or even ‘should she be seen?’ as sadly is the case with some of our Turner Syndrome family across various NHS trusts.

Yes she is at increased risk of x, y and z (Google you weren’t my friend that day), but so could you or I be, and UNKNOWINGLY! We all take risks everyday. But Now we know, her care providers know and knowledge is power. She IS in the best hands.

With regards to her hospital anxiety, I think my journeying/parking anxiety was worse (Oxford is a nightmare). G WAS A GEM. An absolute star! No tears. Even the surprise of an ECG straight after her scan did not throw her. It was incredible! The fact that it was a day off school was possibly the highlight of her day, that and the obligatory McDonalds. Standard!

We’re still awaiting the report to come through, but it’s ok. She’s ok. We’re ok (shocker, I’m not panicking...). Granted G’s heart may take a step up the ladder on my prayer list but it’s all good right here, right now, today.

In other news:

G is winning at life this week  - pupil of the week, moved up a class in swimming (to the deep end.....GULP), moved up a level in reading, had a superb parents evening, and on the sparkly face at school. You rock little G!

I was winning at life last week as our last minute community paediatrician appointment ended up being with a lovely paediatrician who I knew- I taught two of her children. She couldn’t have been more helpful and genuinely happy to do her VERY best for us. Gosh it’s refreshing not to have to fight and push and persuade and explain. She listened, got it, didn’t question, and then said ‘right let’s do everything we can from this end’. YESSSSSSS (where’s the bicep muscle emoji when you need it!).

The Easter holidays were a much needed break for G. Whilst we maintained some structure and routine, life generally eased off. As did the tummy aches interestingly. Sleep even became a little easier for her. A little. Much dairy free chocolate was consumed, and lots of family time was had. We even managed to source the most delicious gluten free fish & chips on a day trip to the seaside.

Junior park run has arrived in our locality. So an eager G participated in her first 2km run this last weekend, and triumphed.

Next stop little G’s favourite caravanning holiday destination. Sunshine request put in please!

The Chase

Sometimes life can feel a little bit like you're on a treadmill, struggling to keep up. That feeling of constantly chasing. I've had that this past month. 
When you're the parent of a child that has a condition that isn't common, and thus doesn't always have a huge amount of knowledge or info out in the pubic domain, YOU become the expert. You become the one chasing for this and pushing for that.

Generally, a vast amount of G's care runs like clockwork...her Ear, Nose and Throat clinic send us a new appointment within a week of her most recent appointment, as do her Opthalmology clinic, her eye consultant, her general paeditrician and usually her endocrine consultants for her growth.
HOWEVER, anything extra, anything that has cropped up or anything that may not be on the radar of her current consultants, can result in me constantly needing to chase people.

Currently I have been needing to chase a 24 hour blood pressure monitor since G's blood pressure was consistently higher than average back in March/April/May of LAST YEAR. Last year! 5 year olds don't generally struggle with high blood pressure, but 5 year olds with Turner Syndrome can...meaning I have needed to chase.

G's heart check is due in March. Usually we have the appointment months in advance as a consultant from a specialist hospital travels up to run the clinic. But no appointment. Most 5 year olds don't need a heart check, but a 5 year old with Turner Syndrome does. G's checks are currently annual as although one heart condition rectified itself (hallelujah!), a slight abnormaility was noted last year. An abnormailty which needs regular checks. Thus I have needed to chase.

And as for the ugly monster that is anxiety, my goodness we can't seem to get the better of that yet.
THANKFULLY after several phonecalls, voicemails and a plea to various other paeditrician's sececretaries to get someone - ANYONE -to get in touch with me, I finally got a call to discuss our concerns. Our paeditrician is great, she will generally follow my lead and will do anything for us. It just sometimes has to be MY lead. So:

1. 24 hour blood pressure monitor booked (it best work this time!).
2. Cardiac consultant contacted to chase up the heartscan/echo.
3. Referral made to community paediatrician regarding anxiety, and also various traits which G displays.

I also put a plea in to school regarding G's anxiety, and many other 'little' things which actually all add together and on some days can become overwhelming for little G. We are hoping these will be addressed with time, but knowing the education system myself I do know that it may not be imminently due to budgets and other constraints. On the radar at least. 

Gosh, my head has felt like it has been ready to explode. It usually does - that meme that is doing the rounds on social media rings true: my mind is like my internet browser - I've got 18 tabs open, 4 of them are frozen and I have no idea where that music is coming from! 

So how is our beautiful G?

She is good! Growing so well thanks to the magic growing juice. I'm constantly on ebay getting bigger clothes.

Feb and March are pretty heavy in terms of of hospital appointments, but that's the norm for us.

 Our brave babe finally had THAT blood test, and thankfully the results came back as normal.

Tummy aches are a huge problem at the moment, but we are likely looking at it now as a physical manifestation of anxiety. 

She still adores little H, they are thick as thieves sometimes. Especially the time they both drew all over G's bedsheet in green pen..., 

Yes we have our ups and downs, our major meltdowns, but actually that is also the norm for us. 

Nobody need judge their lives on what is the norm for others. Everyone's normal is different <3

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!

~

A whopping 7cm!

We knew that G had grown - her aged 3 school trousers had suddenly become ankle swingers, and her smallest size school T-shirts were quickly morphing into cropped tops, but we didn't quite realise just HOW much she'd grown.

So when we attended G's endocrine appointment several weeks ago, we were astounded to find out that not only had she grown nearly 7cm in 7 months, but she had jumped a centile on the growth charts too. To put that in to context - G had a period of 16 months (or thereabout) where she only grew around 8cm. This infact was the period of slow growth that triggered the start of her growth hormone injection. 

HOW AMAZING.

We are so lucky that G can receive this treatment. Sure she still has a grumble about her daily injection, and the breakthrough of not needing a numbing ice cube was only short lived, but she is still a trooper. She's more than that...SHE'S AMAZING.

A difficult topic of conversation

One aspect of Turner Syndrome that I am still to get my head around, is the lack of functioning ovaries, which sadly for most means not being able to create and carry a biological child. This is still a subject that G has little to no understanding of, and is something that we want to drip feed to her sooner rather than later. I'm currently researching stories and books to give rise to such discussions.

Last year I was lucky enough to partake in a textiles project which aimed to give a voice to mothers of girls with Turner Syndrome, and specifically voice our views on infertility. What a fantastic day, and what a beautiful project. The quilt that was produced was a masterpiece. It spoke a thousand words. I can't wait to write a blog about this. Watch this space.  

Conference

I can't believe that I haven't blogged about the TSSS 2017 conference! What an incredible, informative, heart-warming weekend it was. From the uplifting performances at the Saturday night Ball, to the mum's heart-to-heart where we could pour out our deepest thoughts and worries. Lay our souls bare. And every one in the room knows exactly how you feel. Every. Single. One. 

G didn't cope quite so well with the weekend. Over-excited, over-tired, over-stimulated and totally out-of-routine was our girl. It was melt-down central. (Gosh it's hyphen central too!). That said, it was worth it. She had a ball. And what we get out of it, as a family, is well worth the  tears and tantrums! Plus some of my favourite people were at conference. Miss you already xx

A HUGE thank you goes out to Arlene, Carlene, everyone at the society and the guest speakers. I learn more in one weekend than I do throughout the rest of the year or from any other health professional. 

Appointments

Ears and eyes - check. Back in six months time.

Endocrine - check. Back in six months. Although a referral to a large children's hospital, who offer a dedicated Turner Syndrome clinic, is hopefully on the cards. Daily growth hormone increased slightly. 

No appointments before Christmas now - CHECK!

School

This year was the first time that I viewed the count down to half term in a totally different light. Normally, as a teacher I am willing the next holiday to make an appearance quick sharp. HECK we teachers have an actual countdown, usually in our diaries, and from the first day of term!
Whereas come October I was secretly hoping to skip half term. G needs routine, loves school, and without either she could potentially have been a handful... That said, G was in desperate need of a break. As of September, her immune system seemed to take a leave of absence, so a week at home was necessary for medicinal purposes.

In actual fact I LOVED my week with my biggest babe. I hadn't realised just how much I had missed her since she started school. We had lots of fun, baked cakes, played in the park, and shared cugs and kisses with baby H. 

G has settled in to school really well, and loves sharing her daily learning with us. The school have been incredibly supportive of any needs that arise due to  her Turner Syndrome. 

A report from the occupational therapist regarding some of her struggles (fine motor skills, concentration, sensory processing disorder), along with their own observations and our input have resulted in G receiving the support that she needs. We were also pleased to learn that school share similar views to us with respect to G displaying traits of Attention Deficit Hyperactivity Disorder (ADHD). She definitely ticks the boxes for the three main aspects - hyperactive, impulsive and inattentive. As this can fall under the umbrella of Turner Syndrome, no EXTRA diagnosis is needed, and again the school are putting measures in place to aid G. Granted, not much support is required yet, but they are willing to do the leg work as and when it is needed.
Happy G, happy mummy and daddy!
Mental note for mummy-stop it with the 'sit still and concentrate'... 

In other news...

I'm sure I had other news?! My brain doesn't work any more! I'll update this section as and when some of my brain cells start to function again.... I did eat a mince pie, tune my DAB radio to Xmas Magic, and watch some Christmas adverts today. Bet you wanted to know that important info didn't you!

LOVE YOU FOREVER AND ALWAYS LITTLE G

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 ;)