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!

~

White coat syndrome

Today G had a routine appointment with her paediatrician. Now you’d think that after nearly five years of regular hospital visits, G would feel at home at our local hospital. Today’s Blood pressure readings said otherwise!

Hormones, headaches & hearts
It has been 10 months since we embarked on G’s growth hormone journey. As I’ve said many times, she is an absolute star with her daily injections now. No bribery has been required for numerous months. Today her consultant reviewed her growth and concluded that the hormones are having the desired effect. Just under 9cm in 12 months. Around 5cm is average. BINGO!

Many people question whether G will be shorter in stature (as is symptomatic of Turner Syndrome), especially due to the recent acceleration in growth. But this will not always be so. Five foot will still be the goal, the latter end of four feet is highly likely. No big deal, height is no indicator of happiness or success. Though how many firefighters come in at a similar height?! Mind you she’s recently been enquiring about becoming a dental nurse, so maybe she’s finally over the fireman Sam and firefighter Penny stage!

There was a question mark over whether to increase G’s daily hormone dosage. However as she’s been experiencing some headaches and dizziness, it was concluded that this wouldn’t be wise at the moment.

We are awaiting a heart scan for G, as per the request of the cardiac consultant who saw G two years ago. There did look to be some minor abnormalities of the aorta last time, I’m praying this isn’t so now. We know the hearts of our TS girls are precious.

Speaking of hearts, today G had her first ever blood pressure reading. Oh my, you’d have thought they were taking her blood. Once we’d had a demo on mummy, and checked every aspect of the cuff and machine for hidden nasties, we sat watching the special numbers on the monitor. Sadly for G the special numbers were rather high and now she requires monthly monitoring. Here’s to hoping it’s a case of white coat syndrome. It is yet another aspect of Turner Syndrome though.

G is due a follow up appointment and bloods in June. Bloods require us to spend time on the paediatric assessment ward with the play therapists due to G’s severe anxiety surrounding any medical procedure. Can’t wait for the heart scan....

In other news:
G is loving half term-today we made leek and potato soup which she devoured.
 H is desperate to crawl, and mummy needs a job. Boooo.
Oh and as lent begins tomorrow, I’ll be doing my annual social media amnesty. I’ve actually been looking forward to it... pick up a pen and paper if you’ve got our address :)

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.

Tears and tantrums

Oh my. What has happened to my laid-back babe? Who am I kidding....she’s always been highly strung. But this week her tantrums have smashed a whole new level.
The combination of an exciting Christmas break, probably a tad too much sugar and lots of sensory stimulation (not to mention several recent 4am wake ups) has led to little G having a meltdown over anything and everything. On a positive note, the double ear infection has kindly bogged off.

Christmas 2017 was beautiful, despite both children being unwell. Family, food and fun. What more could our babe want? Gluten free stuffing balls and pigs in blankets have fast become G’s favourite festive food, unlike the family tradition of cold meats & pickles for breakfast. I eagerly tucked into my family fav whilst G watched in horror - while eating her breakfast staple of ham and pickle sandwich I might add. ‘Yuck Mum that’s gross having meat and spicy onions for breakfast’. Nom nom!!

Starting back at school after the festive fun and frolics was met with dismay, which is quite unusual for G. She loves school. Quite literally skips there. Tears and tummy aches accompanied the first few days, infact even this evening she complained of a sore tummy and dizziness. Though she has been having a few issues with another child which could be resulting in an anxious tummy. A visit to G’s teacher has been scheduled.

Much to my surprise, when I recently attended a meeting with the SENCo at G’s School, I learned that G had met all of her targets (due to her Turner Syndrome she is automatically under the care of the Special Educational Needs Coordinator, and each term targets are set for her).
It seems that her anxiety has eased somewhat, that she can sit without fiddling or moving for a period of ten minutes -albeit on a wobble cushion and with a fidget toy, AND the girl CAN put on her socks. She’s been fobbing us off....
Her targets for this term continue to focus on concentration, but are now inclusive of social skills. Anything to help make life a little easier for our gorgeous girl. You are AMAZING!

In the coming weeks, G has two appointments-dietician to assess her ongoing issues with milk, wheat and gluten, and the paediatrician. Little H also wanted in on the appointments action, so has bagged himself an appointment with the dietician (milk intolerant-of course he has to be too), paediatrician, and a consultant regarding his delicate bits!!
Daddy is a tad broken at the moment, so he too has bagged a couple of hospital appointments. Parking space with our name on it?! Reduction in parking fees at least.

A hot topic of conversation at the moment is my sister’s recent engagement. G is SOOOO excited by the impending wedding, that she has asked me if she can skip being 6 and jump straight to 7. Rationale? Well as her Aunt is hoping to marry the year that G is 7, she can’t be doing with being 6 and she’s nearly 5 so doesn’t fancy missing out on presents and party. I told her it doesn’t work like that. Her response? ‘Don’t worry mummy, I’ll just do 6 after 7!’.

School and appointments aside, life generally is fairly hectic in our household. Find me a household with kiddies that isn’t!! Between school runs, football karate and swimming, and having two children who are averse to sleep, we are kept on our toes.  Good job I don’t have a job at the moment-I’d need a few extra hours in the day.
Jokes aside, anyone know of any careers that fit round being a full-time, sleep-poor mother, that incorporate my passion for writing blogs and books (or my dislike of plastic packaging), but still pays the bills?Answers on a postcard please...

Christmas greetings, germs and gratitudes

Christmas wishes coming to you, from our local walk in centre.....

Yet again we are thanking our lucky stars for the NHS-double ear infection for G, diagnosed and sent on our way with antibiotics by 9am on Christmas Eve. 

This past month or two has been chaotic. It’s predominantly been filled with illness - two ambulance trips for little H due to bronchiolitis and breathing difficulties, and for G, ear infections and crazy temperatures. She has also had a fainting episode, and several funny turns, leading us to believe that G’s dislike of anything (or anyone) medical may have escalated to the next stage. 

Illness aside, November and December have been fairly uneventful, especially with regards to Turner Syndrome.
Usually at this time of year I am mad busy with ‘all things christmassy’ at school, but currently being on maternity leave means I have  been able to partake in G’s school’s festivities. A trip to the theatre to see Stickman, Christmas open morning, and her first ever Nativity! 

Now I LOVE a good Nativity. But your own babe in her first ever Nativity...that’s something else. I think even daddy was fighting back a tear or two. Shepherd #3 in her tea towel headdress and her two spoken lines. My heart melted. 

I’m wracking my brains for other news, but seeing as it’s taken the best part of a day to write this, I think I will call it a night. Today we’ve enjoyed ice skating, a Christingle service, watching The Santa Claus movie, cooking the turkey and driving around spotting Christmas lights. Now I’m exhausted, G is beyond excited/feeling rotten and Daddy is busy preparing Christmas Dinner.

So goodnight all. Wherever you are and whatever your situation may be, we are sending you love this Christmas xxx

A whopping 7cm!

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

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

HOW AMAZING.

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

A difficult topic of conversation

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

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

Conference

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

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

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

Appointments

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

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

No appointments before Christmas now - CHECK!

School

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

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

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

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

In other news...

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

LOVE YOU FOREVER AND ALWAYS LITTLE G

Anxiety

With today being world mental health day, I thought I'd share with you a commonality between myself and my daughter (and her Turner Syndrome).....ANXIETY.

Anxiety is like a little creature nestled away in the corner of your mind, ready to rear it's ugly head at any given moment. You don't need to be feeling down for anxiety to take hold. You don't need to be stressed or anxious for a panic attack to occur-I've had one snuggled up under a warm blanket with a hot cuppa watching Saturday night TV.

More often than not my mind is full to bursting. I joke that I cannot cram any more in, that my head hurts. But it's NOT a joke. It's reality. Every day.

Today it goes something like this....... school run stress-finding a parking space, not being late,  baby not fed as much as normal, will school call again about my big girl being upset?  Money worries, always money worries, leaving the house in time to make it to bible study, baby feeding on time so I can leave the house for school pick up, big girl's health, always worry about big girl's health, no job, money worries as no job, can't keep up with the washing, ironing hasn't been done in an age, big girl needs a photo for school of her playing sport, big girl's hospital appointments, not locking the front door, baby's sleep, baby's poops, giving baby enough stimulation, husband's job, my car breaking down, husbands happiness, everyone's happiness, cleaning the house, ordering big girl's injections, reading big girl's most recent report from her most recent assessment, leaving the iron on, the dog running away on a walk, worse still the dog being stolen, my mobile being cut off, after her assessment-doing the suggested activities and exercises with big girl, washing the bed clothes, writing my CV, writing this post and sharing my struggles.... and that's just a snippet of what is in my head right now.

And that is minus my irrational thoughts-the ones I often dare not share for fear of judgement. The 'what if?' thoughts.... what if someone kidnaps my children? What if I die today and leave my children without a mother, my husband without a wife?

Much of the worries seem trivial. The 'what ifs' are HIGHLY unlikely. But to a sufferer-one with panic anxiety disorder-it's ALL important. It's all pressing. It's all exhausting.
I try and ground myself sometimes-there are people starving, homeless, caught up in the horror that is war, genocide. But it doesn't work. I worry more!

I'm soooooo tired. But not just physically, mentally and emotionally too.

That feeling of being on a treadmill when you can't keep up and you might fall off at any time. Only you don't fall off as you find enough energy to keep up, you have enough love and happiness in your life to make you want to keep up.

Busy places, chaos, I can't deal with it. Big cities are a no no. Shopping centres are overwhelming. Even the small, enclosed concrete playground require a like it or lump it approach at pick up time. How my husband longs to take me away for a city theatre break, like we used to in our younger days. But the money and crowds and potential threats? And the kids, I CAN'T leave the kids overnight! How I'd LOVE to be anxiety free.

I worry for my big girl. Anxiety is a family trait, it is a Turner Syndrome trait. She worries so much already-about who will pick her up, about friendships, about her hospital appointments, about her school book being changed as she's already read it twice, about when the boiler was last checked!

So do me a favour....when someone opens up to you and says that they suffer with anxiety, don't dismiss it. Don't dismiss them. Anxiety is real, and it's far bigger and far more crippling than you may have ever imagined. Far more of your friends and family suffer than you probably realise.



P.S. With the above in mind, I'm ok.  I really am. I function perfectly well on a day to day basis and I've worked within what is known to be a very stressful profession for the last ten years. 99% of the time I know how to deal with my anxiety. I know how to keep it in check. And that 1% of the time I can't, I know who is there to help me.