8 whole years of our miracle

Where did those 8 years go? And what an incredible young girl she has become-fiesty, funny, caring, not to mention lego-obsessed. 

After sharing G’s story with some friends from church today, I quietly reflected on my thankfulness for our babe. During this time I was reminded of my pregnancy and how one consultant didn’t believe I’d still be pregnant by the time I returned for my next appointment 4 weeks later. Oh how wrong she was. It was a good job we believed. G smashed the odds, God smashed the odds!

School’s out of lockdown : G has been to school during lockdown as she had keyworker status due to my job in education. Whilst I was somewhat nervous given that the whole country had been plunged back into a national lockdown, I knew it was the right move for G. She needs routine, stability and not me as her teacher! So the return to school this week wasn’t really a big deal, except that she no longer had 11 in her form, she had a full class of friends again. 

It’s not what you know, it’s who: After nearly 2 years of being on the waiting list for an autism assessment, and an occupational therapy appointment to address concerns over fine motor skills, I took matters into my own hands and wrote a letter to our local community paediatrician team. It was a known fact that we’d somehow ‘dropped off the system’ but nearly 2 years on nothing had been done to rectify that. 

Within two days I had a phonecall, which resulted in a telephone appointment that day, and an occupational therapy assessment and autism assessment were both confirmed for later this month. 

The wonderful paediatrician taking on our case and fighting our corner? Only a mother of two children that I taught a few years back. I shouldn’t be celebrating the fact that the system was slightly broken and that it took someone who (by chance) knew me, but boy I’m incredibly grateful. She’s vowed to take us on and ensure we get all that we need. Though I’m not convinced as to what results an assessment for autism via Teams will yield... 

Upside down and round and round: G is an absolute sensory seeker, she craves movement. Her ultimate 8th birthday gift  was a spinning, pink office chair for her bedroom. Though I’m not sure she will ever stay still long enough to be able work at her desk on it! If she’s not zooming round in circles on her chair, she’s upside down on the sofa or bed or floor perfecting her headstands and handstands. Her enrolment in gymnastics after lockdown cannot come soon enough. 

No caravanning for G: For the second March running, we’ve not been able to take our annual trip to G’s beloved holiday park. The effects of COVID have been far more devastating for so many families, so in the grand scheme of life it’s no biggy. It’s just it’s G’s happy place, and she’s a creature of habit.

‘We’re Brownie Guides we’re Brownie Guides we’re here to lend a hand.....’ After nearly a year at Brownies, and having never physically attended, G was finally enrolled in Brownies! We had a zoom enrolment complete with the Brownie promise but sadly no toadstool. Next stop, attending an actual real session with real people and no computers.  Hopefully, eventually. 

That’s us for now, eternally thankful 💜

Lockdown!

Welcome to week 10 of lockdown in our household! G is in her element (namely NOT at school), I have realised I’m better at teaching a class of 30 than my own 7 year old, and H just wants to go to the farm to see his friends!

How is G coping in lockdown?
SHE LOVES IT! She really doesn’t like school, has massive anxieties and her sleep is greatly affected when she’s at school. Since lockdown began she’s been asleep by 8:30 most nights-MIRACLE..... she doesn’t come downstairs a gazillion times each evening, and I don’t have huge meltdowns getting her out of the door in the mornings. That said, she is a nightmare to teach!! Some days we are lucky to get 30 minutes done. As maths is her weakest subject, and my primary teaching specialism, maths is our main aim. 5 days a week of 1-2-1 maths for 15/20 minutes and I’m happy. Sometimes we get some writing and reading done, maybe even spellings (not all on the same day though!).

As for the rest, we do gardening, cooking, painting, growing vegetables, woodland walks, woodwork, art, gymnastics, singing, bashing the piano, applying for Blue Peter badges and lots more. Not in a bragging way, in a ‘this is what we’d normally do’ way. And don’t be fooled, inbetween each and every one of those activities is bickering, fighting, talking back, screen time, more bickering, bossing around and general sass!! Oh, and I’M HUNGRY more times than I can count. I’m sure the food bill has doubled!

What have we missed?
G had a fair few appointments scheduled this past few months, so we instead had 1 rescheduled (ears), and 2 phone appointments. One phone appointment replaced G’s annual heart scan, NOT ideal, but couldn’t be helped. We usually make a fairly lengthy journey to Oxford John Radcliffe for her heart checks, but a phone appointment to check nothing untoward is happening resulted in a rescheduling for October. October is looking fairly busy now-Ears, Heart, a rearranged birthday present to watch one of G’s favourite kids bands, a holiday (we hope!), a wedding and an endocrine paediatric appointment.

The other phone appointment was our long awaited-14 months-with the community paediatric consultant to discuss G’s traits of Autism and ADHD. The phone call with a rather upset consultant revealed that we literally had fallen off their radar and we need to start the whole process again. AGGHHHHHHHH! She was incredibly apologetic, and herself disappointed in the process, but I guess at least we are on the right track again.

We’ve also missed several weddings and hen dos,  a few mini breaks including to G’s favourite caravan site, and a number of birthdays and celebrations. But it’s ok. We’re ok. Some days we’re amazing. Some days we’re not, but that’s normal right? Totally. We have each other, and health. We have loving family and incredible neighbours. Talk about community spirit! I’m even managing church online and recording the odd bit of piano when I can. It’s good, it’s positive. And when it’s not that’s ok too.

So, to continued lockdown, to a few more muted birthday celebrations, but also perhaps even to a little bit of normality again soon...... 

On this day 7 years ago...

I’m currently on my social media amnesty for lent, but my hubby reliably informs me that social media has reliably informed him that seven years ago today we finally brought our little miracle home from hospital after a rather crazy 6 days, well 6 months really...from finding out our unborn babe had Turner Syndrome, to an anxious pregnancy, a rather traumatic birth and a rollercoaster week after.

So this evening as G reminisced over a wonderful afternoon she’d had with friends and family (fuelled by cake, haribo, glitter tattoos and dance music), I reminisced over those moments when we were finally given the all clear to bring little G home from special care. Reminisced, and prayed prayers of thanksgiving.

Every year the memories fade....the memories of the frightening emergency caesarean. The desperation we felt when she didn’t come out crying. The heart-sinking moment two days after she was born when we realised we really weren’t out of the woods yet as she was wheeled away to the special baby care unit for transfusions and tests and scans. The nights I slept on the maternity ward without my baby beside me when all around me were with theirs- screaming their tiny little lungs out. Those memories are replaced each day, week, year, with the joy and pride and gratitude we feel at every milestone she hurdles. And this week, that was the joy of our beautiful babe turning 7. Seven. How?! She also reached the next mile on her times table test too, which was worth a celebratory dance as Maths is not a subject she takes a great deal of joy in. It’s often the cause of many tears Infact!

So as we head into a new year for G, we look forward to everything that her seventh year has in store: being a flower girl for her Auntie, more holidays to her favourite caravan, some time beside the sea this summer, becoming a junior in September, continuing with her love of reading, and much more. I’ve no doubt that it’ll also see LOTS more sibling squabbles, lots of sleepless nights, anxiety, hospital appointments and general seven year old woes. But through it all, we’ll remain eternally thankful for the miracle that is you little G. ❤️

We've been a little quiet

….but we are ok! It's only because I have been attempting to juggle a fair few plates, and quite frankly I have dropped quite a lot! So after 3 months of radio silence, I thought an update was LONG overdue.

Happy New Year first and foremost!

G had the most wonderful Christmas - lots of family time, lots of food, lots of films, and lots of time off school. I think the latter was the highlight for her, but come January 6th the structure and routine of school was much needed (even though she may not have been able to comprehend that).

November and December gave G a respite from appointments, which again was another highlight.

What's coming up?

In the next few weeks we have an appointment with G's paediatrician to look at her growth and general wellbeing. For us, we'll be most interested in the growth as it had slowed down last time, and as a result her daily dosage of growth hormone was increased.

She is also due an eye test next week, and it's almost certain that she will need a new prescription (the only part she's excited about is picking new frames!). During the last test the optician informed us that her prescription needed to change a fair bit but that her eyes weren't coping with it during the tests. So it was going to be done in 2 stages over 6 months and stage 2 therefore is next week. Not necessarily Turner Syndrome related, more mummy and daddy related. Given that 3 of us wear glasses, little H is also keen to get in on the act. He pinches G's glasses at every given opportunity. He has his very own eye test the week after next.

G TURNS 7...now it's not quite round the corner, but she is counting down the days and given my recent form I am unlikely to blog again between now and March! High heels, a stainless steel water bottle and 'something Vtech' are on the list.

In April we have a heart scan in Oxford, and a hearing test to check if her hearing has declined. But they are far enough into the future that she isn't panicking about them. She now has a calendar to keep a check of important dates - her request.

We have been awaiting an appointment with regards to G possibly sitting on the Autistic Spectrum. After an initial referral made by school 10 months ago, we are still waiting. It's ok though, it's not desperate, it won't change anything. We know that G has many traits of ASD, however it would be good at some point to have the input of a professional so that we can put any additional support in place if and when it is required.

More imminent is half term, which of course she is counting down to because as she tells us most days - she doesn't like school. She may not like it, but she's doing great, and is especially excelling at reading. Our girl can devour books, and still loves nothing more than her bedtime stories and snuggles with us all  <3

I am sure that I have missed a SHED load off of the above, but my memory is not what it once was. Most importantly G is happy and healthy (only a few germs over the holidays, not an ear infection in sight). She adores her little brother  and she continues to make us super proud parents.

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...

I just want to stay at home!

Since I last blogged our beautiful G has finished Year 1, had the most wonderful summer break, got some new glasses, had a paediatrician visit, had a CAMHS mental health assessment, had a full set of blood tests, spent the best part of a week in a wetsuit (with a pretty special tan to match), and most recently become incredibly anxious about her return to school. 

This summer has been crammed full of family time: two whole weeks of Daddy time, every single day with mummy and H, and a week in Cornwall with my family. G has absolutely ADORED this. For her - family is everything, and various health professionals have gone as far as to suggest she struggles with separation anxiety. So 6 weeks and 2 days down the line, and it doesn’t take a genius to work out that G’s greatest angst is the return to school. 

As routine is key, and change is the enemy, the start of a new school year is always going to be a tricky one to navigate. Thankfully one element of change has been removed by fact that G is having the same teacher again this year. Different classroom, different children, but same teacher. A small win for G. We are ready for the morning with prayers, the promise of after school treats, morning  routine chart, a scrummy breakfast and a calming colouring sheet. Watch this space!

This summer we’ve realised that G genuinely is at her happiest and most carefree when she is by the sea. Wetsuit on and curls flowing freely in the sea air, G is a picture of joy. And that makes us all happy. A week in Cornwall was the tonic that was needed, as it is every year. But for G that release is needed more frequently....We spoke a lot this summer about our dream of owning a VW Transporter so that after a tough week of school, we could just take off on a Friday evening and head to the sea to allow G’s stresses and anxieties to just melt away. Sadly for now the reality of mummy not doing her ‘proper job’ anymore means that the ‘camping in the VW by the sea each weekend’ dream, remain just that. FOR NOW.

In other news:

* G has grown! Though according to her endocrine paediatrician, only by an ADEQUATE amount (just over 4cm). As a result, we were ordered to increase the dosage of G’s daily growth hormone injection. But... after I had pointed out her recent blood results had shown borderline high/too high growth hormone levels, only a small dosage increase was agreed. Not sure why it took me to point that out, but heyho. 

* As G has struggled with high anxiety for quite some time, our paediatrician had decided to make a referral to the Children and Adolescent Mental Health Services. Now I’d already been given a heads up by a different paediatrician (whose children I happen to have taught) that if there is anything ‘else’ going on with your child, then CAMHS will often pass the buck. I remained open minded and we were seen fairly quickly for the assessment (very handy having that friend whose children I taught...). HOWEVER, as G’s  school have made a referral to the Autism team, and due to G’s diagnosis of Turner Syndrome, the CAMHS team felt that we ought to continue down the current lines of enquiry. They felt her anxiety was linked to her TS and most likely Autistic Spectrum traits. I guess this one can be viewed as a ticking the box exercise. 

* G has new glasses. This was very exciting news in our household! It was her first ever time at a regular opticians as all of her previous appointments had been hospital based. She did get the classic tummy aches and panic, but she did incredibly well for her first eye test.  Her prescription had changed which meant two new pairs of glasses. If only she was still that excited 5 weeks on...

*  G finally loves a film. We only have a small selection of vetted films as there are so many elements of film that can cause anxiety-music changes, baddies, bright lights, sudden sounds, sadness but to name a few. But this is a huge step. The most recent additions to the safe list are The Little Mermaid and Charlie and The Chocolate Factory. 

So that’s us up to date, I think. I’m not sure how I managed to miss a July and August blog. Far too much family time fun ❤️

Ooooo and did I mention that we are on the countdown to the Turner Syndrome Annual conference? EEEEEEEEEEEEK! I just seem to have failed in my mission this year to secure full funding for the conference. That will most certainly not be stopping us from attending the best gig in town with THE best extended family though. Too precious and important an opportunity to miss. 

Love you G!! 

Celebrate our beauties!!

21st June 2019....Turner Syndrome Awareness Day


THURSDAY 27TH SEPTEMBER 2012...The day our life flip turned upside down (and not in a fresh prince of Bel Air kind of way!). The day we received the diagnosis that our unborn baby had MONOSOMY X ~ Turner Syndrome. Support was limited, Google was a scarefest, and all that stuck in our minds was that our baby was most likely to die. 

Fast forward nearly 7 years, and oh my we have the MOST incredible girl: fiery, funny, loving, stubborn, athletic, caring, cake-monster, vocab beyond her years, and sporting the most beautiful curly bonce. We couldn't be any luckier, and thank God for giving such a gift to us as a family. 

~

So, you all know how passionate we are about Turner Syndrome/our little G/our Turner Syndrome family....pretty please just do one thing for us over the next 24 hours - refresh yourselves on what Turner Syndrome is and perhaps share your knowledge with someone you know!

Much love xx

P.S. Our little G is doing amazingly well - an ENT appointment tomorrow to make a decision on grommets, and then 4 remaining weeks at school in Year 1 ! How time flies. 

~

Watch this, pretty please <3  https://www.youtube.com/watch?v=rXAR5nqXDkQ


BACK TO AN OLD POST FROM 2012...

Our Turner Syndrome Q & A

Was it something that we 'did' ? Almost instantly we found out the answer to this was no, it was pure fluke or whatever you wish to call it.

How many pregnancies does it affect? Around 1 in 2500.

Will it happen to us again? The chances are extremely slim.

Will our child be able to live a 'normal' life? Many people with Turner Syndrome go on to live a happy and fulfilled life. They will face some challenges that others don't, but to what extent will depend.

If the pregnancy makes it past half way are the chances of survival better? There are no statistics to support this. In fact, no statistics other than 98/99% end in miscarriage or stillbirth, seemed to exist. That one keeps haunting me. 

How many people in the uk have Turner Syndrome? Around 10,000

So you may be wondering what Turner Syndrome is, or involves. We won't go in to great detail here as many pages (such as NHS and TSSSuk) will have much better info. For us the key info is:

• Our baby is a GIRL- yay!
• She is missing one of the sex chromosomes, so only has 1 x in pair 23
• She will have growth problems, without treatment most girls are between 4ft 4 and 4ft 10 at full height (though as her daddy is a shortie-no one will guess!)
• She will need hormone treatment, possibly injections, possibly for much of childhood and teen years
• She will have fertility issues
• Heart problems are a potentially major complication during pregnancy, and possibly after

There is a list longer than my arm of other potential problems -speech, ears, maths, spatial, social...... HOWEVER these are only potential problems, and could also affect Joe Bloggs.

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!

We’ll be grommet friends!!

Knowing that one of her besties has grommets has perhaps made the prospect of needing grommets herself, a little more palatable. By a little more, I’d say she’s possibly 0.5% happy about it as opposed to 0%....

Last week’s Ear, Nose & Throat appointment (along with a 3 monthly hearing test), revealed quite a decline in G’s hearing in her left ear. She’s gone from her hearing only being affected at one pitch to all pitches being affected by the fluid behind her eardrum. We’d noticed a decline in her general hearing anyway so this news didn’t come as a great shock. Final decision appointment in June, with a strong likelihood of an operation for a single grommet being planned soon after. Unless a miracle occurs.

On a brighter note, G’s paediatric endocrine appointment was incredibly positive-she’s grown by around 7.5cm in 12 months (with 4-8cm annual growth deemed as ‘normal’), so yet again G is smashing it with her daily growth hormone injections!! We were told that her dosage could be increased again but this statement was swiftly retracted when the consultant looked at her growth factors in her recent boodwork and noticed that G’s IGF1 levels were almost exceeding the upper limits.
So Two years on the magic growing juice and G is doing phenomenally! I had to buy her some new clothing last week as we’d realised She had been wearing age 3-4 in some garments for as long as we can remember, and the tightness of the waistband was triggering her sensory processing issues. Age 6 clothing swiftly purchased! Thank goodness for click and collect.

The rest of G’s blood work results were normal, which also indicated that her constant tummy aches can only really be attributed to anxiety. Thus a refferal is being made by the paediatrician, to a psychologist.
I’m incredibly passionate about mental health, and the sooner we can put some coping strategies in place for our babe, the more confident we all will be about how she will be able to handle what life throws at her.

In other news:

Anxiety- G has come to the end of a short programme at school, based on a book called WHEN MY WORRIES GET TOO BIG, which has helped her to start to understand her emotions and how her body feels. Learning to recognise emotions, your body’s reactions and then how to cope, are such tricky concepts to get to grips with. So putting that info all together and working out what on Earth is going on can be perplexing for young children. They can struggle to know how to react. The ‘go to’ reaction for many youngsters may simply be having tummy ache and not wanting to go to bed. It’s an ongoing process (it still is for me), but we’ll take every little bit of support and advice we can get.

Blood pressure monitoring-the cuff did fit! The monitor did work! Hurrah! However by around hour 16 of 24, G became overwhelmed:the cuff was tight, and itchy, and kept inflating, and irritating. We removed it half an hour short of the 24 hours as she was in a massive meltdown. But my goodness did she do a fantastic job of holding herself together for so long. The results are unknown to us as yet, but ironically the school theatre production (G’s worst nightmare) was on during the 24 hour monitoring which could have meant the results made for interesting reading. Thankfully she was excused from the event due to the severe anxiety it was causing. I think the monitor would have gone into overdrive with her blood pressure spikes, and after signing a £2000 waiver stating we’d replace the monitor if G broke it, we weren’t taking any risks!

Holidays are coming....
Someone is rather excited for a day beside the sea (and that’s just me!). I’m busy filling up our two week planner just so that we can ensure some sort of routine over Easter. Hopefully the tummy aches will ease, bedtimes will be a tad easier and lots of fun will be had.

School isn’t all bad though (despite much protesting from our lady) - her reading is coming on leaps and bounds, in class this morning she was sharing her new knowledge of o’clock and half past with me, and she has an upcoming school tea party for which she’s going to be baking scones. Glad I’ve got an invite!

We were also reflecting on how far G has come with her swimming. Bearing in mind it wasn’t many moons ago that she’d still scream upon entering the poolside area, it’s rather amazing that she now looks forward to swimming each week. Last month she gained her 5metre badge, and she’s now desperate to complete her final few tasks before moving to.....THE DEEP END.... (don’t panic mummy, don’t panic). What a huge achievement for our girl! It’s taken a shed load of perseverance, often on our part, but has definitely been worth it.

Oh and our not so little girl turned 6, and what cake did she request Daddy make?

LOVE YOU G 💗

Now I’ve swallowed 3 and saved 3!

I think the tooth fairy may be bankrupt soon-number 6 fell out yesterday (not swallowed either), much to G’s delight. And much to our delight, she  went to bed the earliest she’s been in years. LITERALLY years. Turns out if she was awaiting the tooth fairy every night, she’d fall asleep at by 7pm, and not her usual 9/10pm! How many teeth do 5 year olds have?! 

Big wins...
We had a family trip to the Dentist recently. This, as with anything medical, causes G days and days of anxiety, nervous tummy, sleepless nights. However what a huge breakthrough we had...for the first time ever she sat on the dentist chair (on my lap), and allowed the dentist to look in her mouth from a distance of less than 3 metres. This was big news in our household! We were incredibly proud of this HUGE achievement. G’s dental health is important-another quirk of Turner Syndrome.

Another win-G’s eyesight with her glasses is pretty much perfect. So she can now start attending the optician every six months as opposed to the opthalmologist at the hospital. Whilst I know this will probably cause her just as much anxst, we won’t be on hospital grounds, and we won’t be paying the parking fees. Wins all round.

This month has seen a lot more chasing up. It transpired that we haven’t had a cardiac appointment as G’s local hospital has cut their ties with John Radcliffe specialist hospital. As a result she was almost left in limbo. Had I not ended up getting the secretary’s number at JR, I don’t think anyone would have chased up G’s heart at all.

With the above in mind we’ve made the decision to leave our local hospital for her heart health and travel the distance to Oxford. After all it’s only an annual trip, and as I was seen there when pregnant with G (and JR still houses the specialist we saw at our local hospital last March), I have a lot of faith in them and their specialist care. So in April we’ll be having a day trip to see G’s cardiac consultant. Maybe we’ll find a nice farm park  for a pit stop treat on the way home.

Half term happiness....
G could not have been happier this half term, and I was surprised at the drastic reduction in meltdowns. This time I had ensured we had an activity planned every day, and a timetable of this so G was aware of what was happening and when. Plans plus sunshine equalled one happy babe. One happy babe equalled one happy mumma!

Next month sees more appointments including:
Paediatrician for a general update, height and weight check, discussions around anxiety and general health.
Blood pressure monitoring, I’m skeptical that they’ll even get a monitor to fit/work, so I’ll leave this one here.
Ear, Nose and Throat consultant to continue to assess the fluid behind G’s ears. G talks a lot about grommets-but not in an ‘I want grommets’ way!

Next month also sees G turn 6. SIX. How? 

I say this every year but we are so incredibly blessed and thankful to have G in our life given that her odds were so tiny (remember the 2% ?!) It’s totally enriched us having her as our daughter, she’s an absolutely delight and a cherished gift from God. She’s given us strength we didn’t think we had, and love and happiness on a whole new level. Soon to be happy birthday G! 

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

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

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!!!!!! 

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!

~

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.