Well, nothing’s changed really, but it feels like heaps has – I’m in such a different “place” today than yesterday.
Yesterday we were told that in all likelihood, bubs would die in utero, and it was a choice of continuing the pregnancy to let things happen naturally, or terminating and getting it over with.
Today we had the appointment with a fetal medicine doctor at the hospital. I expected her to come in and tell me about the doom and gloom of my pregnancy and “where to from here” which I figured would be a “recommended” abortion. However, it wasn’t anything of the sort. She came in, and after asking what I knew about Turner Syndrome (I knew a bit from Google, but I like to hear confirmation 😉 ) proceeded to tell me about it.
In a nutshell –
Babies born with Turner Syndrome are always female (the syndrome is the deletion of the X chromosome from the sex chromosome – so instead of XX it’s X0 / X- ; this can occur on only a few cells of the body, or on every single cell). And because they don’t have the complete set of female hormones, they are invariably infertile – they have the right organs, but the ovaries don’t work at all – regardless of severity of TS – so they’ll need hormone therapy at puberty (both to grow but also to develop sex charactistics) and they are universally short statured, tho exact height reached depends largely on how soon growth hormones are started (some girls aren’t actually diagnosed until puberty fails to happen).
The other main complication is heart issues – usually a narrowing of the aorta. This doesn’t happen in all TS cases, but whenever narrowing of the aorta happens they check for TS, as they’re that closely linked. The severity with which this occurs varies widely – can be an issue that causes death before birth, but it can also be light enough that it’s not a problem either at all or until adulthood. Regardless, there are things that can be done to fix / help fix this, so even this isn’t a death sentence, just something to watch for. And it can be picked up on ultrasound antenatally, too.
Finally, there are often mild – moderate problems with the kidneys – most commonly the kidneys either fuse together (so they become one) or one or both is oddly shaped. However, there is usually decent kidney function at least until adolescence, and although TS girls are at significantly increased risk of diabetes, this isn’t an absolute either – some TS girls have no kidney issues whatsoever.
Other than that, there’s some very mild physical differences – the short stature, commonly a wider neck, sometimes a low hairline, stubby fingers/toes and/or puffy hands/feet. Very little, however, that will immediately set a TS girl apart from her peers physically, and most TS girls only have a couple of these features rather than all.
TS girls also have no cognitive impairment and no muscle / movement issues, and can live completely normal lives.
So I took that in and said “well that’s great [and I knew most from my own research anyway] – but everyone has told me my baby wouldn’t live to be born, so it’s not that much of an issue is it?” The doctor thought about this and said “we [doctors] like to present the worst case scenario, so that it’s not a shock if it happens.” She went on to say that as far as the pregnancy is concerned, the biggest problem at the moment is the cystic hygromas, and there’s two main ways these can progress – either they gradually and randomly disappear on their own, and there’s no issue – OR – the fluid in the cysts starts migrating, and can interfere with the organs. However, the fluid / hygromas are clearly visible on ultrasound – so this can be monitored to tell what exactly is happening. The doctors can’t *change* anything… but they can warn of which way things look to be going. At the moment it’s just plain too early to tell; it’s all a matter of wait-and-see (story of my life these days!).
Soooo… hubby is much more optimistic about this because even though I told him most of it 🙄 he had pictured a severely disabled person, that would need help getting around (??) and never be able to function independently, and this isn’t the case at all. Now he knows the facts, he’s a lot happier to support me in continuing the pregnancy, which is nice 🙂 And I think he’s quietly optimistic about things too.
Myself… I am still ‘prepared’ to lose the baby, and that is still a very definite possibility. However – there seems a LOT more hope than it seemed like yesterday even though the situation is exactly the same. I knew yesterday there was always a chance of a miracle – but having a doctor tell me that there’s a chance, too, makes it seem more real. Right now it’s just wait-and-see. I’m classed as a high-risk pregnancy, though the risk is all to the baby and none to me (any more than with any other pregnancy). I’ll be scanned every 3 weeks or so from now on, including having a fetal ECG to pick up any heart problems so that we’re prepared for them, and although we can’t ‘do’ anything about the cystic hygromas, we can at least watch what is or isn’t happening with them. Finally, my midwife is still my midwife and my “main” carer – I just see the hospital a lot more in between.