Happy heart

 And breathe….. we’ve finally finished school for the Christmas holidays and whilst we are all exhausted, our hearts are happy.

G visited her cardiac specialist last month in Oxford, and her routine checks reassured us that everything is well in the heart department. She will always have her bicuspid aortic valve (it should be a tri valve, like a Mercedes’ badge) but it’s functioning well and needs no intervention currently. 

An MRI is still on the cards as it is imperative that they see the heart functioning in 3D, but equally they hope to get G to an age where she can have this procedure without being knocked out! 

Her routine endocrinology appointment was cancelled last month, so we are still awaiting a replacement appointment. Whilst it’s not urgent, it is important for them to have up-to-date knowledge of G’s height, her bloods and her growth hormone levels in her body.

We also wanted to ask when we can start injecting G into her thigh or tummy as opposed to her derrière. Though given how slim and muscly she is, I’m not sure any injection site will be particularly pain-free. She’s been on her daily injections for a few months shy of 5 years now, and although she’d stop it in a heartbeat, she understands the implications of doing so. Her growth hormone not only aids her height so that she may reach the lofty height of five foot, but also helps her bones, her muscles and her heart. We thank God for this costly yet vital treatment, which is free to G on the NHS.

Another important topic of conversation over the next year or so will be when they can investigate the development of G’s womb, and her ovaries. With full Turner Syndrome (as opposed to mosaic) it is incredibly unlikely that her ovaries will be functioning but it’s important for them to be scanned.

In other news, Daddy finally succumbed to Covid and tested positive a few weeks back. Thankfully he had no symptoms and stayed well. So that is all 4 of us now. Hopefully the Covid antibodies, plus 3 vaccinations will be enough to safely see us through the winter. And a vaccination may be on the cards for G in the not-too-distant future if she is categorised as one of the vulnerable 5-11 year olds that a vaccination has recently been developed for.

Lastly, we were recently lucky enough to enjoy a trip on the Santa Express at Great Central Railway courtesy of the Sandcastle Trust. G and H had the best time! We’re very grateful to this amazing charity who gift to children/families of those with rare diseases. Huge thanks Sandcastle Trust ❤️

We wish everyone a restful Christmas, and hope that 2022 is filled with love and kindness. 

Covid, holidays and a new school year

 Covid finally caught up with us at the very end of the summer term. I’ve always been nervous of how G would cope with covid, more so her body and heart. That said she wasn’t in the at risk category, so it was only my own anxious mind going ten to the dozen.

The penultimate week of term G vomited and had a temperature. Now this is totally the norm for her-it happens every 8 weeks or so, and is usually associated with tiredness (for the last two years now we’ve been querying cyclical vomiting syndrome or abdominal migraines). She was isolating anyway due to her year group having a Coronavirus outbreak but it was only when another mum texted to say her son had vomited and then tested positive that we decided to book a PCR test. 24 hours later….POSITIVE. I crumbled, my greatest fears of the past 15 months enveloped me. Thank God, G was ok. Forty eight hours and she was back to her fun loving self. Myself and H then went on to test positive, with differing symptoms (sore throat, head cold, and eventually the loss of taste and smell) but we too recovered in relatively short time. Daddy escaped. We’re both double jabbed, so no rhyme or reason.

So the aforementioned meant that our summer holidays started 10 days early. We were grateful for beautiful weather and a garden to enjoy it in, for family and friends sending supplies and that we were lucky enough to be vaccinated and thus no doubt suffered far less.

The summer holidays had soon whizzed by in a blur of play dates, park visits, a trip to Legoland, playing in her Uncle’s converted camper, a first on the dodgems, candy floss, and a beach day. Before we knew it we were preparing for another year at the juniors for G and H starting infant school. 

G has settled in well with her new class, has gelled with her teacher, and has been getting the time she requires to do her Occupational Therapy exercise within the school week.

Appointments:

We’ve had none. We love a dry spell of appointments!! 

G has her paediatrician and endocrinologist at the beginning of November, as well as her annual heart scans. We were told to expect an MRI this year as they really need a more detailed picture of her heart and her bicuspid aortic valve, so that may require a return trip to Oxford just before Christmas.

We have received the full report from the educational psychologist which we found very enlightening. G is a babe who is verbally gifted-you only need to have a conversation with her to realise that. But I’ve always said her verbal ability and what she gets down on paper just don’t marry up. Well the Ed Psych’s assessments finally proved that-well above average verbal capabilities and less than average processing speed. BOOM. Doesn’t a mother always know? Some recommendations have been sent to school but for now, as she copes, little will be implemented. But it’s in black and white for if and when she doesn’t. 

Everything that we have achieved over the past 9 months has been a battle, but one worth fighting. The occupational therapy diagnosis of hyper mobility and visual perception issues, along with the Ed Psych’s diagnosis of high verbal capabilities yet low processing speed would have all be missed. We may not have had the outcome we expected from the ASD team, but we don’t need labels, just an awareness. ‘She copes, we don’t see any issues, she is working at expected levels’. Yes my friends, but do you understand how tricky it can be for her to do this? To not blow her lid all day, to continuously copy from the board to her book when her visual-motor skills are poor, to focus so hard on beautiful handwriting to strive to achieve that pen licence she so desperately desires despite hyper mobility of her fingers? She is an absolute trooper. Our trooper. I’ll always be her advocate 💜 

I like orange squash but only THAT orange squash

 Sometimes I forget how sensitive G is to texture, taste and smell. Assuming she’d discovered a new flavour of squash she liked (as opposed to just apple and blackcurrant), I poured her a glass of orange squash, only to be greeted with a sour face and ‘no I only liked the type Nanny had’. Ahh so that will be Robinsons then and not Asda’s own. Duly noted. 

I’d also been wondering why she was leaving fresh OJ some days, and devouring it on others. It transpires that she can only drink fresh OJ straight from the fridge. The moment it warms up by a few degrees then she can’t handle the taste. 

The above are just a few little insights into a variety of sensory sensitivities that G has. But you know what-she’s decisive, she likes what she likes and we know where we stand!! I’d love to be that decisive...

From nothing to the everything

G has had a variety of assessments recently. Firstly an online assessment for autism  (one hour, over Teams - no I’m not convinced either), an assessment for ADHD (suggested by the autism team not ourselves) and is also awaiting an assessment by an educational psychologist at school next week. It has taken years to get to this point, but I’m pleased we’re being heard.

Now don’t get me wrong, I’m not after labels at all. The all encompassing medical diagnosis of Turner Syndrome ensures that G will have a lifetime of support, but purely medical. And as I’ve found out over the years, only when you fight. Only last week did Ear, Nose and Throat try to discharge G off their books for the umpteenth time, not appreciating  that girls and ladies with TS need a lifetime of multi-disciplinary care. 

The ADHD testing showed G did not hit the criteria required but that didn’t surprise me. I feel her impulsive, fidgety tendencies are more about seeking proprioceptive input and craving movement and stimulation than attention deficit disorder. 

Interestingly her two year awaited occupational therapy appointment was an eye opener and highlighted far more than I’d expected: hyper mobility of joints and visual-perception processing problems (yep we had to Google it too!). G’s scoring in this area was way below average-that is her ability to receive, interpreting and acting upon Information received via her eyes. Not an eyesight problem, but more so your brain knowing how to act upon what it’s just seen. The above has been highlighted in a report to ourselves and school, and school are in the process of putting the recommendations in place to best support G. I’m incredibly glad that I fought for that particular assessment.  

Gymnastics galore 

G has been obsessed with gymnastics since lockdown began, even earning a Blue Peter sport badge for trying a new hobby. Three weeks ago G finally joined a gymnastics club and she couldn’t be happier. Maybe that hyper mobility could prove beneficial!

No more tears 

G had her regular bloods taken and for the first time EVER did not cry. Super proud of her. She’s been jabbed every single day since the age of 4 with hormone injections, and blood tests would send her over the edge. Not anymore. You go girl ❤️

So that’s a wrap... she’s a happy bunny at the moment, and so are we. Happy that we’re blessed to have G and H. 

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. ❤️