Conference and Christmas trees

 2019 is QUITE a long time ago. That’s the last time that we were lucky enough to spend quality time with other Turner Syndrome families, and learn from incredibly knowledgeable, passionate professionals. 

So 2023 annual conference was going to be emotional….. we came away from our day at the October conference exhausted, elated, happy-hearted, brain overloaded and so incredibly thankful for such an amazing charity. G was 6 years old when she last attended, and now at the ripe old age of 10 she’s so much more aware of her condition and keen to spend time with other girls who experience life as she does. 

I came away armed with a plethora of information, which soon came in handy as we attended G’s six-monthly endocrine appointment. We discussed her transition on to hormone replacement therapy-in particular the age at which we start her on the treatment (which is something that myself and her endocrinologist have disagreed over in the past). HRT will bring on puberty for G, and over the course of 2.5 years will allow her to develop in the same way as her peers via oestrogen and progesterone patches/pills. Due to TS, her body does not naturally produce enough of the sex hormones. 

We also discussed certain scans and blood tests that G should be having but perhaps have not been known about by her local consultants. A kidney scan is first on the list. 

Lastly we discussed  how to proceed given that G’s growth is still fairly stagnant (and has been for over 2 years DESPITE incremental increases in her daily growth injections). Her IGF1 levels for growth hormone have always been at the very top end of normal, so yet again with another increase just prescribed we need to be incredibly vigilant for side effects like headaches which could indicate a more serious condition. 

Next week we have our annual cardiac visit to John Radcliffe, Oxford. Hopefully G’s bicuspid aortic valve is behaving and her aorta has not dilated any further since her MRI. A local hospital appointment is on the calendar for tomorrow, which we almost forgot. Oct/Nov seems to be busy appointment wise! 

Speaking earlier of amazing charities, we have been gifted a Christmas treat at Warwick Castle from The Sandcastle Trust’s Sandcastle Santa this December. Another amazing charity that do wonderful things for people with rare chromosomal disorders. Not forgetting to mention that it was a local charity that paid for us to attend the TS conference, for which we are eternally grateful. 

Lastly (and less importantly but more excitingly), we picked our Christmas tree yesterday! Oh shush you Grinches…

As always G amazes us daily: her resilience, humour, passion for reading and love for her family. Thank God for such a superstar 💜 Oh and I think she wants a cat… 

Where did 2022 go?

 Until this evening, when I was prompted about this blog, I have to admit that it had totally slipped my mind. For a LONG time. But I was reminded that many people have followed our beautiful girl’s story for a long time, and are keen to know how she is…

Since I last posted, G has leapt from 8 to 10 years old. DOUBLE DIGITS. She had her first MRI, attended her first ever sleepover at girl guiding camp, achieved several medals in gymnastics and passed several stages at swim school, almost completed year 5 at school, had the pleasure of being flower girl for her auntie (soon to be flower girl for her uncle) and moved house-counties actually. 

Medical updates:

- Endocrinology: G has been having her routine bloods, and her most recent set showed she is negative for coeliac disease (something we’d queried for quite some time due to its prevalence in Turner Syndrome). Her IGF1 levels, which indicate the amount of growth hormone in her body, were stable if not at the high end. However her height has tailed off over the past 12-24 months, with her most recent 6 monthly check showing she’d barely grown a centimetre. As a result, her daily injection dosage has increased in the hope that we see a difference over the next 6 months.

- Growth hormone shortage: there has been a world wide shortage of G’s growth hormone Norditropin, meaning we’ve had to swap to a different growth pen. Thankfully it’s been a fairly simple transition, the only issue being that her new injection vials cannot be left out of the fridge for more than 30 minutes. Her previous pen, which she’d been on for 6 years, could stay at room temperature for up to 21 days (she had a new pen every 14 days, so that made life very easy!). 

- Cardiology: G had her annual cardiac scans in November, and it was decided that they wanted a clearer picture of her heart via an MRI. She has a bicuspid aortic valve, but it was also discovered that her aorta is widening slightly. This is common in TS, but must be monitored as there is a risk of dissection, so they wanted a 3D view. G was a superstar during her MRI in January-confined spaces, loud noises and the unknown are 3 things she does not deal well with, yet she nailed it!

The results of the MRI showed what her consultant already knew, and thankfully they are happy to continue monitoring her annually. However it was discovered that she had an incidental finding on her lungs. She is having a follow-up chest x-ray next week to see if that ‘cloudy patch’ that they found has cleared up. It is likely that she had an infection around the time of her MRI, but we all want to be sure. 

In other news…

G’s most recent parents evening was fantastic; we couldn’t have been prouder of our book-loving, endearing, maturing girl. 

Gymnastics continues to be a passion of hers, as does reading (the local library in our new town is one of her favourite hangouts).

Gluten and wheat is making a regular appearance in her diet nowadays, with little repercussions, and she’s very much enjoying crumpets, biscuits and French stick. 

We lost our beloved Winston back in March, so our family has been adjusting to life without our beloved  springador. Winston used to be G’s protector when she was a babe, that and her go-to toy for pulling/grabbing/chewing and poking! In more recent years G adored spending time stoking him, and generally chilling together. He’s missed beyond measure. 

Finally, we’ve been lucky enough to secure funding from a local charity to attend the Turner Syndrome conference this September! Due to Covid, the conference has been postponed for the past 3 years, so we cannot be happier to be day delegates at such an important event. 

I am sure  that so much more has happened since the last post in Dec 2021, but the most important fact is that G is happy, healthy and quite frankly a remarkable young girl whom we are lucky enough to be blessed with. 

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.