10 butterfly things of thankful

I have decided, for this week only as a one off (might be a stretch to do EVERY week) to link in my butterfly blog with my friend Considerer's 10 things of thankful.  When you are diagnosed and have to live with a long-term health condition which may or may not cause you various problems, it can be very easy to become bogged down, challenged and just see the downside of it all.  So for today I am finding 10 positive things about having Turner's syndrome, so here it goes!

1.  Yes being short can be a pain.  Yes I can't reach things in some stores.  But being short makes you look sweet and cute, and people underestimate you (which can be useful, believe me!).  Nice people offer, normally quite nicely and sensitively, to help you with things.  You look younger than you are (I know I very naughtily got child fares on the buses a bit longer than I should have).  So there are definite advantages!  Most stores do short fittings/petite ranges now, and as my sister and a girl in my halls at uni would say 'you can take things up, I can't add bits of fabric to clothes!'.

2. Through having T.S. I have met many women, both online and in real life, who I would not have met if I did not have this condition.  It is very hard to explain, but there is something which binds us, a shared understanding, and brilliant friendships have formed.  It is a real sisterhood, and I wouldn't be without it.

3.  Through my experiences I have been able to start this blog, and meet and talk to people who are just starting this journey themselves, or have a daughter who is.  And I CAN HELP.  At least I think I do.  And they see me, having a normal life, doing okay, and they are reassured.

4.  Now in the U.K. (other national organisations exist I know) we have the TSSS (Turner Syndrome Support Society).  This is brilliant, and the support they give to women, girls and their families is amazing.  Behind it all is the most amazing woman, who I WILL name as she can't get enough recognition, Arlene Smyth.  Her daughter was diagnosed at birth, and since then she has been tirelessly devoted to raising awareness and doing all she can to help those with Turner's syndrome - go Arlene.

http://www.tss.org.uk/

5.  Thanks to the society, we have an annual conference.  There are plenty of opportunities for fun, sharing stories, learning and bringing to fruition Arlene's whole ethos in starting the society - I quote her from last year "I didn't want my daughter to grow up thinking she was a freak".  We are not alone!  And conference is such a good place for tears, support and understanding.

Left to right - Alice, Debbie and Myself at last year's conference

6.  Leading up to, and since, my diagnosis I have learnt A LOT of medicine (I didn't get in to medical school, but that's another story).  I know what a bicuspid valve is.  I know what a horseshoe kidney is.  I know about growth hormone.  I know about the various forms of HRT.  I would not have such an understanding of a lot of this, despite being a pharmacist, if I did not have Turner's syndrome.

7.  A lot of people find they have trouble conceiving.  I forget the percentage of couples it is nowadays, but it is A LOT.  Luckily, in my case, I don't have to go through months and months of trying.  Of lots and lots of tests.  Of lots and lots of waiting.  I already know the options available to me and any future husband and what they will involve, which does sort of give me a head start.

8.  Having Turner's syndrome I get annual blood tests.  I get a bone scan every 5 years to check for osteoporosis.  I get an echocardiogram every 3 years.   I asked for a hearing test and got it.  All this means I am monitored, and if any problem did develop, it would be likely caught very quickly, and resolved/treated - that's got to be good.

9.  Butterflies are quite in vogue at the moment.  And oh how me and all my sisters are enjoying it.  I have, in no particular order, a handbag, a top, a couple of scarves now (one just given to me by the lovely Alice for my birthday), a photo frame (given to me by the lovely Debbie) and a picture above my bed.  The latest addition is the following, bought for me by my mother:

Butterfly boot-planter!

No one seems to quite know how the butterfly became the T.S. adopted symbol, but now it JUST IS!  Their fragility, their beauty, the way they fly - all of this contributes to it I think.

10.  I am thankful for the timing of, and manner of, my diagnosis.  That I am diagnosed at all.  That I was diagnosed by another butterfly and had, and still have, her to turn to.  That is worth so much.

Finally, I leave you with what is definitely an appropriate butterfly anthem, and hey, just a fab song!

And so it starts - at the beginning - the butterfly gets her wings

So, to know you have Turner's syndrome there has to be a start.  Someone (normally a doctor) makes a diagnosis.  But how do you prove that a girl has it?  What are the signs and symptoms?  When do girls get diagnosed?  In this post I am going to try and explain the various things at various stages in a girl's life which may lead to the diagnosis.

In utero
With modern technology more and more babies (yes they are babies in there, they are little lives, and for me that starts at conception) are found to have Turner Syndrome whilst still in the womb.   This is discovered when an amniocentesis (same test as used for Down's syndrome) shows that the karyotype is showing one complete X chromosome, and one wholly or partially absent one.  This is normally undertaken if excess fluid (oedema) is seen, or certain heart abnormalities are present, or the measurements of the neck crease are off.

This can be good.  This can mean that various heart complaints which are more common in Turner's Syndrome can be dealt with as soon after birth as reasonably practical.  It can mean that parents are given good information and prepared for issues their daughter may have when they arrive.  It can mean that support and information is given by the TSSS (U.K) or TSSUS, or other national organisation or charity.

But.......

It can also be.....

a death sentence.

All too often, even now, GOOD information and support is not there.  Unbiased, impartial advice is not offered, and is not asked for as the individuals involved are too confused, upset and don't know where to turn.  They trust the doctors, they believe what they are told.  And even in the western world with modern medicine, the picture that is painted is bleak.  Bleak enough that the doctors suggest the unthinkable, every parent-to-be's worse nightmare.  They suggest abortion.  They say the girl will have lots of medical problems.  They say that her quality of life will be impaired.  They say she will have learning difficulties.  They say she will not have her own children.  And they imply that all of this means that the girl should not be allowed to experience life.  That the parents should give up on her.  What they do NOT say, as they are ignorant and through no fault of their own clueless as they have probably never met an adult with TS, is that LOTS AND LOTS AND LOTS of women are living with Turner's syndrome, all over the world.  All these problems can and do occur in individuals without TS as well as those with it.  And none of these problems are insurmountable.  And that breaks my heart, that these little butterflies lose their lives, before they've even had a chance to live.  There needs to be A LOT more education of healthcare professionals around Turner's syndrome.  Us individuals out there living daily with it need to educate them, and be there for those parents to show them when they get this news that WE ARE NORMAL!!  Over a year ago I was honoured to meet a lady who went against the doctors.  Who did not give up on her daughter.  Whose daughter was born in a smaller hospital, not a larger one on the mainland, as labour happened just too fast (much to the dismay of the obstetrician who was on duty that night as he was adamant she would be born on the mainland, not with him, as he had advocated abortion!!!).  Who, despite finding out during pregnancy her daughter may need an operation to repair a heart defect shortly after birth, did not let that cause her to give up on her - and do you know what, she didn't even need that operation in the end and the defect was not as bad as was feared.  I am SO SO SO glad that we were able to meet this mother before the birth and since, and were able to help her, talk to her, be there with her and that I could be at that little girl's Christening celebrating the gift of her life which was given to her parents.

At birth
If not diagnosed in utero, many girls are diagnosed shortly after birth.  This is normally when some or other of the more common physical traits of Turner's syndrome are noticed by a well-educated healthcare professional.  These are generally the puffy hands and feet, short length, wide neck or broad chest.  One girl probably won't have every single one of these, and if you're not looking for them they're easy to miss.  But many girls are thankfully diagnosed at this point so that they and their families get the help and support they need.  I didn't have the lymphodoema myself, but what I did have was problems feeding and sucking which my Mum took me for help with, as another common Turner's trait is a high palette to the mouth.  Two and two were not put together in my case though.

In early childhood

Sooner or later, any girl with Turner's syndrome WILL fall off the "standard" growth chart, and start being noticeably smaller than her peers.  When this is enough to be noticed, and there is a sensible doctor around, karyotype is often taken and diagnosis confirmed then.  Or she might have recurrent ear infections, water infections (caused by kidney abnormalities) or heart problems.  In my case I think I was about average height until about Year 4 or 5 of primary school, and then everyone started shooting up and I didn't.  By the time I was 15, my 10-year-old sister was as tall as me and people were asking if we were twins!

In adolescence
From what I understand normal age range for beginning of puberty in girls is from about age 8 up to about 15/16.  Only 10% of girls will T.S will start their periods naturally.  And even then time is short, the ovaries could fail at anytime, and menopause WILL occur (ask the poor 16 year old from conference last year who's FSH is already starting to creep up but is still deemed too young for egg harvesting).  At 14, I wasn't too bothered.  By 17, something HAD to be wrong.  So off I went on the advice of my school friend who happened to have it and noticed my bendy arms, and a karyotype was undertaken, and yes she'd been right, T.S was the cause of my not undergoing puberty.  My FSH and LH were really high, but there was no oestrogen or progesterone production.  But at least now I could get oestrogen (at 17 years old my bone age had only progressed to 14, having never had any) and tests on my heart and kidneys to make sure there were no underlying medical problems.  Thankfully I didn't really have any of the medical problems I could have had, I've only recently had slightly faltering thyroid function.  Just as well I had tall parents, as being diagnosed at 17 it was a bit late for the growth hormone I could have had, but at just over 5' it's not too bad.

In adulthood with failure to conceive
Unbelievably a load of women still slip through the net and aren't diagnosed til their 30s, and there's even a Youtube video of a lady diagnosed in her 60s! (which I can't find now but if I do will link in).  Through the TSSS I know at least one married couple where the lady was diagnosed with T.S when she failed to conceive.  If you have few of the medical complications, and it's purely being a bit on the short side and not managing to get pregnant, the medics don't always put two and two together very well!

Whatever stage the diagnosis occurs, I think it's important that support is offered.  And not just the medical support, which I think, at least in the U.K, tends to be good.  It's the emotional aspects of it all, and dealing with it, as well, which I think can sometimes be lacking, at least in my experience.  Ideally the earlier the diagnosis the better, as proper monitoring can be started and continued, and the girl and family can get used to the situation.  I think it was bad enough at 17 suddenly finding out for me, but I can't imagine being in my 30s and suddenly finding out I had this condition that I'd had all my life!

Well that's what Turner's syndrome is, and that's how and why it gets picked up.  Any questions or comments please use the box.

The whole story - so far (where I am now)

This is the first post on my new blog I have started which will be devoted to Turner's syndrome.  I am sharing here my own personal story which I wrote for a Facebook group I belong to, and while this is personal to me, future posts won't all be about me (promise) but about all aspects of Turner's syndrome that we all have to deal with in varying degrees, but this first one is just my story for now.

I'm Emma and I live in Southampton, on the south coast of England.  I am now 31.  Growing up if you'd asked me what I wanted, or where I would be by this stage of my life, I definitely would have included being married and having some children in that.  I did the usual little girl things of playing with dolls, prams, and I'm sure I did the putting teddy bears, dolls, or whatever else was around up my dresses (I knew babies came from their Mummy's tummies).  Apparently aged 3 I showed poor parenting skills when I left all my dolls out to bake in the sun on a warm summer's day!

Anyway, life went on, I went to school, did well, got good GCSEs and went to college.  Since about the age of 14 I had been thinking (although not too worried) where are my breasts? And where are my periods?  By the time I was a 17-year-old A level student and still nothing had started the doctor needed pushing, and this time I wasn't fobbed off and told to wait as I had been at 14.  I had an ultrasound of my womb, various hormone tests which showed my FSH and LH were sky high but there was virtually no oestrogen or progesterone.  The doctor was confused by this but in the mean time I mentioned my problems to a girl I had gone through secondary school with.  She made an amazing diagnosis – she asked me to show her my arms, palms up with my upper arm straight to my sides.  I did as I was asked, not really thinking what on earth she might be asking me to do this for, and she noticed the classic “cubitus valgus” (increased carrying angle at the elbow – my forearms point outwards to the side, not straight to the front).  She then said the immortal words “I think you've got Turner's syndrome, like me”.  Now SR and I had always been in front row of choir together at school as we were both small – turns out that she was diagnosed at 11 and had got growth hormone, which is standard once TS girls start falling off the growth chart.  Luckily, as it was too late for growth hormone for me, my natural height I reached all by myself of 5'1'' isn't too bad, thanks to tall parents and my mosaic karyotype (genetic make-up).  Despite her growth hormone I am still the taller of the two of us!

So naturally on hearing these words I was all “what on earth is Turner's syndrome?”.  She explained briefly, and I did  A LOT of research in books and on the internet.  It basically meant that my second X chromosome was missing (well in my case just broken) and this, you guessed it, means your ovaries are pretty damn useless, hence my FSH and LH being high trying to kick start them but no response.  The first blood sample for my karyotype got lost/broken/messed up by the lab, so another sample was taken, so about two months after being “diagnosed” by my friend, it was actually confirmed by a bona fide lab letter (which I still have somewhere I think).  By this stage I had pretty much come to realise if SR had spotted it, and realising I had quite a few more features of the syndrome having done some research, it was pretty much a full blown conclusion, but when I went to the doctors and heard the words “yes, you do have Turner's syndrome” my world still came crashing down. 

The doctor was nice in her own way, said there was more than one way to be a mother etc, asked if I had any homework I needed to get out of and if so she would write me a note so I could go home and not worry, but those things didn’t do much to comfort – I had just been told I could not have children.  I asked if it was definite that I wouldn’t make my own eggs, and the GP admitted she wasn’t 100% certain and referred me to a paediatrician (at 17, just about young enough to scrape in).  The paediatrician told me that no, definitely no egg production in my case based on the hormone levels, and also explained that due to my karyotype having some Y-fragment in a few of the cell lines ovaries would have to come out as Y-chromosome in sex cells like to be outside the body like testes, and I would be at risk of ovarian cancer in my stupid non-functioning streak ovaries.  I finally got the operation done the summer after my first year at university, after some enquiries in the Easter holiday leading me to discover I had dropped off the list!  I wasn’t too bothered by the operation as I was in the frame of mind “well they don’t work anyway so why does it matter that they’re going?”.

I went through university not really dating, and remember one tearful consultation with the doctor (don’t know what she must have thought!) where I checked that if *it* ever happened I wouldn’t need emergency contraception (not that there was anyone on the scene).  She offerred me counselling but proud stubborn me declined.

Whilst at university I was searching for God, and dabbled in a religion which allowed the practice of polygamy.  Initially what drove me from that religion and back to Christianity wasn’t theological at the time, but one particular comment from one particular man on a forum that “he wouldn’t ever consider taking as his only wife a woman who was infertile” was the final straw.  This caused me to be really angry, upset and all those other emotions as you can imagine!

I’m church-going now, and trying to get closer to God and find His way for me, but I’d be lying if I said my infertility doesn’t make me upset and angry at Him sometimes, and it’s not easy.  I am in a place where I feel that a man would have so many options when looking for a wife, why would he chose me when he could chose someone who could give him children?  The thing is, Turner Syndrome gives us more than our fair share of self esteem issues, low self confidence etc, and slightly poorer social skills, so this coupled with how I feel about my infertility isn’t really boding well for meeting a man!  Then there’s the whole when to bring it up?  Will they be scared off if I mention it too soon?  But do I want to waste time, energy and get hurt getting attached to someone who will then walk away if it’s an issue for them, and it would just feel like you’re keeping this dirty big secret and you’d be walking on eggshells, and that’s surely not healthy in the early stages of a relationship?

Oh well, hey ho, I must just carry on with life, take solace in my friends and family, the generally good health I have, that I have a comfortable life and good home, and trust God for the whole family thing I’m stressing over to be sorted out.  Some Bible quotes to finish with (if you’re that way inclined), which I WILL remember and repeat ad infinitum!:

For I know the plans I have for you, says the Lord.  Plans to prosper you, not to harm you.  Plans to give you hope and a future.   Jeremiah 29:11

Therefore do not worry about tomorrow, for tomorrow will worry about itself. Each day has enough trouble of its own.    Matthew 6:34

For more information on Turner's syndrome: