Celebrate our beauties!!

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


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

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

~

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

Much love xx

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

~

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


BACK TO AN OLD POST FROM 2012...

Our Turner Syndrome Q & A

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

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

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

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

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

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

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

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

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

Mercedes badges and hearts

G has an incredible memory. As a toddler she’d know most of the car makers, along with their respective symbols/badges, including the Mercedes badge.

The Mercedes symbol was used as a visual aid for us at G’s heart scan last March as a way of explaining a slight abnormality of her aortic valve (a valve allowing a one-way system for the blood to flow from the lower heart chamber through to the body). That valve has 3 segments, as symbolised by said carmakers badge, but in G’s case one of the three segments seemed to be smaller.
So when we returned to the cardiologist this month, we knew that this would be of particular interest. What we hadn’t anticipated was that it was a little more serious than just being slightly smaller-it transpired that two of the segments (the smaller one and it’s buddy next door) were working as one, meaning the valve itself was working with two parts (bi), not three. Thus G has a BICUSPID AORTIC VALVE.

Thankfully we have the calmest, most softly spoken, reassuring consultant that I have ever had the pleasure of meeting, and she instantly put our mind at ease.....
* Despite the above, the valve is working as it should, and is not allowing any blood to flow back through (regurgitate)
* Bicuspid valves are actually one of the more common conditions in non Turner Syndrome patients too. I won’t need to fight for care, or research it and educate others.
* G will have regular, and life long care for her heart. Period. No ‘how often should she be seen?’ or even ‘should she be seen?’ as sadly is the case with some of our Turner Syndrome family across various NHS trusts.

Yes she is at increased risk of x, y and z (Google you weren’t my friend that day), but so could you or I be, and UNKNOWINGLY! We all take risks everyday. But Now we know, her care providers know and knowledge is power. She IS in the best hands.

With regards to her hospital anxiety, I think my journeying/parking anxiety was worse (Oxford is a nightmare). G WAS A GEM. An absolute star! No tears. Even the surprise of an ECG straight after her scan did not throw her. It was incredible! The fact that it was a day off school was possibly the highlight of her day, that and the obligatory McDonalds. Standard!

We’re still awaiting the report to come through, but it’s ok. She’s ok. We’re ok (shocker, I’m not panicking...). Granted G’s heart may take a step up the ladder on my prayer list but it’s all good right here, right now, today.

In other news:

G is winning at life this week  - pupil of the week, moved up a class in swimming (to the deep end.....GULP), moved up a level in reading, had a superb parents evening, and on the sparkly face at school. You rock little G!

I was winning at life last week as our last minute community paediatrician appointment ended up being with a lovely paediatrician who I knew- I taught two of her children. She couldn’t have been more helpful and genuinely happy to do her VERY best for us. Gosh it’s refreshing not to have to fight and push and persuade and explain. She listened, got it, didn’t question, and then said ‘right let’s do everything we can from this end’. YESSSSSSS (where’s the bicep muscle emoji when you need it!).

The Easter holidays were a much needed break for G. Whilst we maintained some structure and routine, life generally eased off. As did the tummy aches interestingly. Sleep even became a little easier for her. A little. Much dairy free chocolate was consumed, and lots of family time was had. We even managed to source the most delicious gluten free fish & chips on a day trip to the seaside.

Junior park run has arrived in our locality. So an eager G participated in her first 2km run this last weekend, and triumphed.

Next stop little G’s favourite caravanning holiday destination. Sunshine request put in please!

We’ll be grommet friends!!

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

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

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

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

In other news:

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

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

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

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

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

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

LOVE YOU G 💗

Now I’ve swallowed 3 and saved 3!

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

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

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

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

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

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

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

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

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

The Chase

Sometimes life can feel a little bit like you're on a treadmill, struggling to keep up. That feeling of constantly chasing. I've had that this past month. 
When you're the parent of a child that has a condition that isn't common, and thus doesn't always have a huge amount of knowledge or info out in the pubic domain, YOU become the expert. You become the one chasing for this and pushing for that.

Generally, a vast amount of G's care runs like clockwork...her Ear, Nose and Throat clinic send us a new appointment within a week of her most recent appointment, as do her Opthalmology clinic, her eye consultant, her general paeditrician and usually her endocrine consultants for her growth.
HOWEVER, anything extra, anything that has cropped up or anything that may not be on the radar of her current consultants, can result in me constantly needing to chase people.

Currently I have been needing to chase a 24 hour blood pressure monitor since G's blood pressure was consistently higher than average back in March/April/May of LAST YEAR. Last year! 5 year olds don't generally struggle with high blood pressure, but 5 year olds with Turner Syndrome can...meaning I have needed to chase.

G's heart check is due in March. Usually we have the appointment months in advance as a consultant from a specialist hospital travels up to run the clinic. But no appointment. Most 5 year olds don't need a heart check, but a 5 year old with Turner Syndrome does. G's checks are currently annual as although one heart condition rectified itself (hallelujah!), a slight abnormaility was noted last year. An abnormailty which needs regular checks. Thus I have needed to chase.

And as for the ugly monster that is anxiety, my goodness we can't seem to get the better of that yet.
THANKFULLY after several phonecalls, voicemails and a plea to various other paeditrician's sececretaries to get someone - ANYONE -to get in touch with me, I finally got a call to discuss our concerns. Our paeditrician is great, she will generally follow my lead and will do anything for us. It just sometimes has to be MY lead. So:

1. 24 hour blood pressure monitor booked (it best work this time!).
2. Cardiac consultant contacted to chase up the heartscan/echo.
3. Referral made to community paediatrician regarding anxiety, and also various traits which G displays.

I also put a plea in to school regarding G's anxiety, and many other 'little' things which actually all add together and on some days can become overwhelming for little G. We are hoping these will be addressed with time, but knowing the education system myself I do know that it may not be imminently due to budgets and other constraints. On the radar at least. 

Gosh, my head has felt like it has been ready to explode. It usually does - that meme that is doing the rounds on social media rings true: my mind is like my internet browser - I've got 18 tabs open, 4 of them are frozen and I have no idea where that music is coming from! 

So how is our beautiful G?

She is good! Growing so well thanks to the magic growing juice. I'm constantly on ebay getting bigger clothes.

Feb and March are pretty heavy in terms of of hospital appointments, but that's the norm for us.

 Our brave babe finally had THAT blood test, and thankfully the results came back as normal.

Tummy aches are a huge problem at the moment, but we are likely looking at it now as a physical manifestation of anxiety. 

She still adores little H, they are thick as thieves sometimes. Especially the time they both drew all over G's bedsheet in green pen..., 

Yes we have our ups and downs, our major meltdowns, but actually that is also the norm for us. 

Nobody need judge their lives on what is the norm for others. Everyone's normal is different <3

Santa is dairy free!

When we visited Santa in his Christmas barn several weeks ago, the one thing that stuck in G's mind was Santa saying he was lactose free and thus wanting a dairy free chocolate cake as opposed to a mince pie this Christmas. 

I think G was secretly chuffed to find someone else with similar food intolerances. We still don't know if her issues with gluten are caused by coeliac disease, which is linked to Turner Syndrome. I'm not brave enough to feed her gluten every single day for 6 whole weeks!
She told me the other day that she would like to open a gluten and dairy free restaurant where she could eat everything on the menu. I'll be her first customer...

G has been having ongoing tummy trouble, and since she's no longer under a dietician or gastroenterologist, I took her to our GP - six months plus of daily tummy woes is quite long enough. He's concluded that, once some bloods have been taken (AGHHHH) just to cover all bases, it is most likely to be 'anxious tummy' 'reflux/heartburn' or a mixture of the two. So once I muster up the courage to take her to the hospital for what is now SEVERAL sets of bloods, we will hopefully know more. And at the very least try her on some reflux medication.

In other news:

SCHOOL NATIVITY: Well I never, did you ever hear of aliens at the nativity?! Little G stood proudly on the stage at this year's school nativity and recited her multiple sets of lines whilst doing her best alien impression. This babe has taken 4 years to stand on the stage at the annual Turner Syndrome show WITHOUT bursting in to tears, running off, or point blank refusing to join in with one dance. So we were incredibly surprised at her willingness to partake, and her confidence. We were beaming with joy as we watched alien number two...

WINTER GERMS: G was doing so well with no ear infections and just a streaming nose (nothing new there). So when she started having temperature spikes of 40 degrees in the penultimate week of term, we knew she was ready to crash. One dress rehearsal, two performances, one panto, two sending homes, a fainting and vomiting episode and lots of scary temperature spikes later, and G was done. We called time on school two days early as our poor girl was exhausted and drained. She's still not right, but at least we have another 8 days of not having to rush up and out to school. Whether her low immune system is linked to her Turner Syndrome, I'm not sure, but this year we've had a slightly better run up to Christmas than normal. I'll take that!

SCHOOL PANTO: She went! She was determined to go. I so wanted to be there with her. I KNEW she wouldn't cope. That the lights, the sound, the worry, the potential of 'baddies' would be too overwhelming. And it was... However for what it was worth, her teacher got her through. She was in tears for quite some time, and wanted to leave, but they pushed her through. G has since talked about the panto - the bits she enjoyed, and even getting her little brother to re-enact some of the boos and hisses. But that said, she's already told me that she won't be going next year. And nor will I make her.

ANXIETY: When G told me that on Friday's she had been sending her friends in to the playground to look for a boy who had once, on a Friday, pulled her glasses off her face and thrown them on to the floor, I knew she was struggling with her anxiety. When she started getting upset from Wednesday night onwards, not falling asleep until gone 9/10pm and having epic morning meltdowns (more so than normal). I knew we needed to do something. This one incident at school is not the sole cause of her anxiety, she has anxiety about many things (not being with me and her brother during the day, having to sit still during phonics, going to swimming), but it reminded me that she doesn't have five year old levels of anxiety. Her levels are FAR, far greater.

Now I am on a mission to get some support for her. Starting with school, and her paediatrician. Anxiety is associated with Turner Syndrome, and it's a trait of both mine and her dad so she almost has a triple whammy (sorry babe!).  But we'll do our absolute best to help her. Calming music, a fibre optic light and a lava lamp are currently being trialled at bedtime. She was asleep by 8:15pm this evening :)

So, apart from still having not taken her for THAT blood test, that is us.
Hoping you have had a joyful Christmas, and wishing you a peaceful New Year full of love and kindness.

Gappy McGap

'All I want for Christmas is me two front teeth' couldn't be more apt for our G at the moment. In fact, she'd like 3 teeth!

I'm always learning, especially with regards to Turner Syndrome. What I've recently learnt  is that our girls' teeth often (not always) fall out at a younger age, and in quick succession. G has lost 3 in a matter of weeks, taking the total up to 5 now. The majority of her classmates still have a full set of their baby, pearly whites, whilst G we now affectionately call Gappy McGap! Gorgeous girl and her cheeky gappy smile.

With regards to dental health in Turner Syndrome, there has been talk of shorter roots, overcrowding of adult teeth and possible overbite. For now though, all that our G cares about is how much the tooth fairy is bringing her, and ensuring that she doesn't swallow any more teeth.

Appointment updates

No grommets yet, hurrah! Tuesday night saw yet another sleepless night for G. The anxiety of her impending Ear, Nose and Throat appointment had sent her anxiety in to overdrive. She has been having a routine hearing test every 10-16 weeks to monitor the fluid behind her ear drum, and her mild hearing loss, and this Wednesday we were back again.
Thankfully this time her hearing had improved slightly, and although she still has fluid behind her ear drum, the drum is able to vibrate enough. Enough for them not to want to give her grommets just yet.
The only real effects G is having is some regular ear pain, and struggling with hearing in busy situations. If that's the trade off for not having surgery just yet, then she's more than fine with that. We all are!

At the annual Turner Syndrome Support Society we were all directed to a fantastic leaflet outlining how hearing is affected in girls with Turner Syndrome (and how issues can differ slightly to ear problems in the general population). So I armed myself with this leaflet, and hoped that the consultant would take it, and read with interest. He took it - only because I virtually forced it upon him - but had very little interest, and implied that all the consultants know what they need to, to be able to treat G effectively...
What, really? You know the specifics of how a syndrome that often many of our consultants have only read about in a textbook or physically encountered on less than a handful of occasions, affects my daughter specifically? That girls with TS have an abnormality of how sound is processed centrally? And that this can mean that the hearing impairment can actually be greater than a simple hearing test may imply?! I know that Doctors don't, and can't know everything about everything. I'm not unreasonable, Doctors are an incredible wealth of knowledge and do an amazing job....but when a mumma is reaching out and sharing important information with you, take it. Please.

                           ~

I think we have a clear run up to Christmas now with regards to medical appointments. Well, we still have the dreaded third blood test, but I am in no rush to book that.
We do have our visit from the local specialist support services coming up, which we are eagerly anticipating. Hopefully they will have some strategies for us to implement to make life easier for G, to help to reduce her anxieties, and to help to reduce the epic meltdowns.

In other news:

G has been helping me to bake our own gluten and dairy free bread in our second-hand breadmaker. EXCITING!

G's reading is coming on fantastically - she now enjoys reading some of her old books to her brother at bedtime. It's adorable (for the 30 seconds before he decides he's had enough, she tries to pin him back down, and he swipes her, making her either lose it, or cry!).

G is due to go to the theatre with her school to see a Christmas panto. SENSORY OVERLOAD...noise, lights, lots of people, scary characters, booing and hissing. My goodness, where do we even start with this?!

Oooo and did I mention that G has now been to hairdresser 3 times in the past few months, WITHOUT  a single meltdown?! It's rather incredible. We've found a superb hairdresser who has firsthand experience of the Autistic spectrum, and of course of handling curly locks. She can comb and cut G's hair without G's sensory system going into complete meltdown. LITTLE WINS. Every little win counts <3