Why do we need an awareness month anyway?

So for the past month, I have been putting a little something up on my Facebook page, a picture, a little fact, a blog post, to spread awareness and educate about Turner Syndrome.


But why do we need awareness?  Why do we need to educate the general public about what Turner Syndrome is?  Does it matter if Joe Public has heard of it or not?








Well there are several reasons why this is important, and the battle will never be over.  There are many women and girls out there who remain undiagnosed.  Who don't know that they have the condition.  Who aren't getting the medical monitoring that they need to prevent complications, identify issues that need managing and ensure a good quality of life.  So for them, the medical community especially need to be educated and be aware and on the look out so women don't end up undiagnosed into their 30s and beyond (there is on youtube a butterfly diary link of a lady diagnosed in her 60s, I kid not!).










Also, greater public awareness will hopefully lead to more compassion, empathy and understanding, regarding the infertility (which many others also deal with) and all the other medical appointments and different struggles we might have which might need a few adjustments to deal with in an education or school environment.




It will combat that "oh, but you look normal, there's nothing wrong with you!".  Yes, in most cases we live a "normal" life (whatever that is) and day-to-day most problems, if there are any, are managed.  But there are ways Turner's can affect us, which can't be seen, which are difficult to explain, and DO make us slightly different in our own way, so if we try and tell you about T.S. and what it means to have it, we're opening up to you and you're special :).  With more awareness, people will know what it is, and we won't have to do that initial explaining because there will already be that basic understanding there.






The biggest reason we need awareness though is for the parents who are told their unborn baby has Turner's syndrome.  All too often they do not get the support and information they need, are painted a bleak picture, and are often led to think that the condition is so bad, and that quality of life will be so poor, that they feel the only option is to take the ill-informed doctor's advice of abortion.  Thankfully 3 years ago, a family in this position found the Turner Syndrome Support Society and got put in touch with someone I know on the Isle of Wight where they live, who in turn introduced them to me and another friend here in Southampton, so they met some real ladies living with Turner Syndrome!  It just breaks my heart that it could have been so different, and in certain cases where bad advice is given wrong decisions are being made when actually women with T.S. by all accounts have long, fulfilling lives.






So ends my month crusade of raising awareness of Turner Syndrome, and I will endeavour to keep this blog regularly updated and go into more detail about several of the points mentioned in the last 28 days.

And for my sisters:

Short happens!

Keep calm - it's only a missing chromosome.

Turner Up!

XOXOXOXOXOXOXOXOXOXOXOXOXO



 

Hormone replacement

As Turner Syndrome affects the sex chromosomes, the majority of girls will not produce the sex hormones oestrogen and progesterone.  Whilst most girls will be born with ovaries, they may be small/streak, and generally by the time puberty would normally start ovarian failure has occurred, so menstruation does not begin spontaneously.

For this reason, in the early teens, about the time that puberty would occur in most girls, oestrogen therapy is normally begun, and eventually progesterone must be added too, and in most women this will cause a cycle to develop with a menstrual bleed the same as a period.  Depending on whether growth hormone has been used, and the success of that treatment and the desired final height, pubertal induction may be delayed for a few years (see the post to come on growth hormone therapy for more information on this).

There are many routes and forms of sex hormones which girls can be offerred (as a pharmacist I have a clue here ;) ) but it can be very confusing to girls and their families, and the doctors treating them!  The most important things to remember is that oestrogen therapy alone is not enough - in any female still possessing her uterus, progesterone must also be given or it increases the risk of uterine cancer!

Some women are given the contraceptive pill.  This tends to be slightly lower dose of hormones than would be present in hormone replacement therapy (see below) and must be the combined oral contraceptive pill - the mini pill has only progesterone, no oestrogen.  It is taken for 21 days, followed by a week's break before starting the next strip.  The lower dose is because it is designed to just supress ovulation in women without Turner Syndrome, and the week's break is to allow such women to have their period - but in our case that means a week each month with no hormones at all, unless you tricycle (run three strips together and only have the break every three months).

However, what most women will take will be.....

Hormone replacement therapy.  Again, this isn't really designed for our situation, it's for older ladies going through the menopause - but it does the job, it's what we need, and replaces what we should be making.  It comes in tablets, either cyclical (you get a monthly bleed), combined continuous (oestrogen and progesterone together everyday - no cycle (yay!) ), patches, a mixture of tablets and patches, gels, there are so many possibilities!  Some women get side effects with some (sweats, mood swings, weight gain) but as hormone levels settle they should pass, but in any case, there are so many options - don't suffer, see your doctor and discuss it and try something else!

So why do we need to take it anyway?  Does it matter that we don't make hormones?  Why do we need them?  The main reason is for bone strength.  Oestrogen is imperative for development of bones in women, and without it we would be at much greater risk of osteroporosis and fractures.  It aids with breast development and other secondary sexual characteristics, and will ensure more comfortable relations with a spouse by preventing dryness.

There is much talk around the fact that there is not much experience in using HRT for extended years as we require, and what there is suggests increased risks of some cancers, and that benefits of treatment should be balanced with the risks.  The way I think of it is this though: this is for post-menopausal women extending their oestrogen years.  In our case, we are just replacing what should naturally be there, and as long as we have a controlled withdrawal of treatment about the age of a natural menopause, these worries should not really concern us.  It is far more important that a woman with Turner Syndrome gets the oestrogen years she needs to build strong bones for the future.

Please comment with any questions (I will try and help).  What kinds of HRT are women on?  Has anyone had any problems and what did you do about it?  What age did you older ladies stop?  Any women decide against HRT and why, and what did you do to protect your bones instead?

Twisted Mix Tape - Butterflies flying high!

Seeing as it's a free-for-all at Jen's Twisted Mix Tape Tuesday this week, I thought I'd link butterfly thinking up with some butterfly, soaring, inspiring type tunes!

1.  Mariah Carey - Butterfly

 Well obviously with a title like that this one was appropriate!



2.   Eurythmics - Angel

 Now, I love the Eurythmics, Annie Lennox is awesome.  And unfortunately too many Turner's girls become angels, even before they are born.

3.  Delta Goodrem - Born to Try

Like everyone, we are born to try, and we can and do achieve.


4.  Christina Aguilera - Fighter

We ARE fighters, only 2% of babies concieved with T.S. make it to term, but what a 2% we are!  And I love the metamorphosis Christina goes through in this video - very caterpillar to butterfly like!


5.  Little Mix - Wings

....spread your wings, my little butterfly.....  Well obviously, and ignore all the haters!  Go for it, and reach for the stars!

Please comment and get on over and add your very own Mix Tape.