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 💜

Actual real life, face to face appointments!

As G missed a few appointments during the initial phases of lockdown, we had a stack of clinics to attend once it was safe to do so. And over the recent summer months as the COVID stats got better, it was safe to do so...

Heart - We did worry this one would be postponed again, but thankfully the start of the 2nd lockdown is still a few days away, so G attended with daddy. This annual appointment is in Oxford, and usually we'd both go but due to COVID restrictions, and H's nursery hours, I didn't go. I HATED IT! I've been there for every heart appointment at John Radcliffe since birth, infact before birth, so I was more than a little uneasy about not attending. Thankfully nothing significant had changed since her ECG and scan last year. Next year however she will her her first ever MRI so that they can get an exact picture of her heart in general, get a clearer view of her bicuspid aortic valve, and take accurate measurements. I will be there for that one.

Ears - G is due a hearing test ASAP as she has been having some problems with her bad ear, namely random temperatures in JUST her bad ear. There has been no real explanation offered for this occurrence so hopefully the next appointment will shed some light on it.

Endocrine - We missed our 6 monthly paediatric endocrine appointment this April, and were due to have our joint clinic with the visiting consultant last month. Said consultant did not visit, but we did get to meet with G's paediatrician who was able to give us enough information to keep us satisfied. She is growing, WOOHOO, always the main goal! 7cm in 12 months, which again falls within the normal range of 5-8cm. Her growth hormone levels are higher than normal, but they always are. So long as we are monitoring for any undesirable (and potentially dangerous side effects), then she is able to stay at her current level of growth hormone. She still regularly tells us that she doesn't want her daily injection, but she definitely is far more aware of the benefits. 

Community paediatrician - I recently called the community paediatric team for an update, and we are on a waiting list of 300+ at the moment. 300 who need either a school visit or a clinic assessment from the ASD team. We're not far off being at the 2 year mark of when we first started the process and we haven't progressed very far. No real problem with this, but it would be good to to speak to someone at some point. 

In other news

G is back in school and was loving it! Initially she couldn't wait to get back. Four months into home schooling and breaking up for the summer couldn't have come soon enough - neither me or G were fond of the idea anymore. She was desperate to get back into school and see her friends. Though her desire to return stemmed more from the anxiety over the unknown: her new classroom, new classmates and new teacher. After all she was not only transitioning from one class to the next, but from infants to juniors, and one school building to another. Transition in any normal school year is a big thing for her, so a transition that wasn't going to be physically possibly resulted in a lot of what if's for G. Fast forward to two weeks at home for half term, and a lovely break at her favourite caravan site in Norfolk, and she's back to not wanting to go to school. Took longer than I thought for the novelty to wear off!

G moved up to Brownies from Rainbows during lockdown. Of course, this is all taking place over Zoom but it was an exciting milestone for her.

The Turner Syndrome Support Society held a mini Zoom kids club meet last weekend, which G loved. We attend the annual UK TS conference every year, and whilst this year would have been our first year of not attending (the UK were due to be hosting the international conference in July), we still felt a tinge of sadness come October. For us, October is all about the Turner Syndrome conference! It's such an uplifting and important event. So much so that many of us start counting down at the end of the summer. But Arlene and the society did organise a zoom kids club, which included a magician, and was wonderful for the girls. The giggles that were coming from the kitchen on Sunday morning were such a joy to hear (G loves a classic, slapstick comedian/magician!). We cannot WAIT to attend the next conference.

COVID-19 thus far has not affected us personally as a family, but I know that thus far are probably the key words. We did not need to shield for G, and her heart condition was the only real concern but even then it was not significant enough to need to shield. That said it worries me most days, but then that's just general COVID and anxiety for all of our family and friends, not TS specific. Not specific to me. 

So that is us, that is G. We are ok, more than ok most days. We are taking a day at a time, and we are remembering to always be grateful for what we have. 

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!!