A new member of the family......

Well, apologies for the delay in updating this blog. Life in the Twiggly House has suddenly gone from being not-particularly-interesting to, erm, a bit more interesting. 'Interesting' to the point of being (to engage in some Anglo Saxon terminology here), a bit of a headf&ck.

We were delighted to discover in early April 2008 that we are expecting a little brother or sister for Twiglet; a little jelly-bean we have nicknamed Squiglet. We were absolutely thrilled, neither of us are the right side of 35, and we have always wanted Twiglet to have a sibling.

Due to my thrombophilia (a genetic condition called Factor V Leiden which only needs treatment during pregnancy to prevent clots in the placenta), I was seen promptly by both the haemotologists at Wishaw General, and my obstetric consultant and midwife. Scans were run - very exciting, though following a fairly disasterous pregnancy history, also quite a worrying time for all.

We got to the big 12 weeks, wonderful. Started to relax, to enjoy the feeling of a brand new life growing inside me, to plan for the future of our soon-to-be-expanded family.

Then the blow....the horrible, deathly silent, hear-a-pin-drop, watch-their-concerned-faces moment that I found out, during my 14 week scan, that there could be a problem.

During the scan, the sonographer measured Squiglet's nuchal fold. This is an area of fluid behind the neck. At 14 weeks, this usually falls within the range of 2 - 3.2mm and causes no concern. Squiglet's fold measures 4.8mm.

I was rescanned by a doctor who confirmed the measurements, and whisked into the 'family / counselling room' where my knees promptly buckled. I didn't want to cry in front of Twiglet, who was with me, but the tears came thick and fast.

There is a 30% chance that our darling child has a chromosome abnormality. Very high odds indeed, as a 'normal' 35 year old usually classed as 'high-risk' is around a 1 in 125 chance.

If there is a problem, there is a 70% chance that Squiglet has Down's Syndrome; a 20% chance of Edwards Syndrome and a 10% chance of Turner Syndrome. With all of these conditions, defects of the heart, the kidneys and the abdomen are common. Edwards Syndrome rarely allows a child to live beyond 10 months of age. Most people are familiar with the effects of Down's Syndrome. Even should the amniocentisis results come back clear for these three disorders, further anomoly scans will need to be run to check for heart, kidney, stomach and limb problems.

To say we were devastated at first would be an understatement - heaven knows how I got Twiglet and I both home on the long bus journey back to Bothwell. After a week of knowing, and learning, and understanding more about what we face; things are becoming clearer.

There is still a 70% chance that everything will be fine and/or ultimately treatable. No problems with Squiglet's heart have as yet been seen (difficult, though not impossible, to do at a 14 week scan) and femur length and head measurements are all looking normal. The increased nuchal measurement MAY resolve itself. But that 30% still looks awfully big, and very very scary.

We have chosen to have the amniocentisis test on June 10th. This carries a 1% chance of a late miscarriage but, when you look at the stats, that is nothing. We simply want to prepare ourselves - and Twiglet - for what is to come as best we possibly can.

If our beloved baby is a special child, then he or she is a very precious gift who has been entrusted to us for reason.