A Second Opinion: Chromosomal Disorder?

They say life is un-fair, but I have always been a happy go lucky kind of girl. When I get kicked, I get back up, dust myself off and try again. I think this time I may have been kicked a little too hard, I don't want to get back up, I don't want to dust myself off and I definetly don't want to try again.

They say lightning doesn't strike twice, they say that pregnancy after a loss is your rainbow baby. No one ever said that this pregnancy was going to break me beyond any recognition of myself. 

After the gender scan that ended in tears on Saturday, I got in touch with my life line Nicky. A lady that has been incredible throughout this entire process. From finding the fluid at 10 weeks, to being available at the end of the phone when she didn't have any obligation to actually help me. She did so out of the goodness of her heart, and I will be forever grateful for that.

I text Nicky first thing Monday morning, I told her about the gender scan and the abnormalities that were flagged. Nicky was over at Worcester Hospital that day, she put me in touch with midwives based there, they arranged for me to see my consultant for an ultrasound the following afternoon. 

I think I had convinced myself of what was going to happen, I think I had accepted that there was something. What that something was though I didn't know, and I was hoping that the scan may shed more light on what was going on. Hoping that it was something that we could work with and ultimately bring our baby into the world.

My friend came along with me to this scan as Luke was on a course, this appointment was one that I know I wouldn't have been able to obtain if it wasn't for Nicky. I know if I had simply called the hospital, they would have told me to wait for the Fetal Medicine appointment that had been scheduled for this coming Friday... So I told Luke to keep his course going, that we probably wouldn't get much more information at this scan, that this was just to double check the concerns.

This was the first time I had met my consultant, she's a wonderful lady, very thorough, to the point but caring at the same time. Someone that I could work with, I have realised that I need to know what they think, I need facts and honesty. I deal better with the truth than speculation.

I lay there on the consultation bed as she looked around at what was visible of baby. The views were not good, I could see flashes of spine, heart and head as she inspected them more closely, but nothing that resembled a baby. I have found this at a few of the scans, but whenever Nicky has scanned me I have seen an entire baby. 

I had been asked to come with a full bladder, but I knew that I would be asked to go and empty as that seems to present the best views of baby. I was first asked to empty half, and then when that didn't help, I was asked to return with an empty bladder.

The consultant told me that baby was really difficult to scan, that they still looked very curled up and at this stage (17 weeks) they would expect them to be less like this now. I stared at the monitor that was angled towards me, and we sat in silence as she inspected Nugget and concentrated.

I glanced over every so often to see if her face gave anything away, but the only thing I could tell was that she was really thinking about what she was seeing. I watched her label the 4 chambers of the heart, look inside babies head and saw a foot pop into view. 

Eventually the consultant spoke, and she went through so much more than anticipated with me. She had concerns, she confirmed that eveyrthing that had been seen on Saturday was there (my second opinion), the heart tilts to the left and appears abnormal, she only saw one pulmonary artery in 3VV (Im not sure what 3VV is) and the left outflow tract was seen arising from the left ventricle but she was unable to demonstarte in 3vv (we would need a detailed heart scan with fetal medicine). 

The posterior fossa appears abnormal with an enlarged 4th ventrile and Nugget's head looks dolicephalic (long and cone like is my understanding). The babies feet appear rocker bottomed and there were things that couldn't be looked at due to the visibility conditions...

I asked her what this could point towards, not for a second thinking she would tell me.

All of these markers together point towards a chromosomal anomaly, and she believed that it was Trisomy 18 - Edwards Syndrome.

Ironically and heartbreakingly this is one of the trisomies that the Harmony Test came back low risk for. I thought we had been cleared against Downs, Edwards and Patel.

Edwards Syndrome is caused by the presence of a third copy of all or part of chromosome 18. It affects many parts of the growing babies body, often results in smaller babies and they are prone to heart defects, small heads, small jaws, clenched fists with overlapping fingers and severe intellectual disabilities.

Edwards is not a nice condition, and right from when I first heard about it 7 weeks ago, I knew this would be one of my worst case scenarios. I said right then and there that this would not be a quality of life I want for my baby, but not once did I expect this to be the actual outcome. Babies often die in the womb, or not long after birth. If they do live there are ongoing problems and many die within the first year.

I don't think I could put my family though that. I can't do that to Leo.

I was shown to a little room away from the waiting area and the many happily pregnant ladies, Nicky came in to see me and gave me a hug. She said how un-fair it all was, and boy did I feel that. It feels incredibly un-fair but as much as I want to shout and scream that, what's the point? What is it going to change? Achieve? 

Absolutely nothing. 

I was shown out the back so I could avoid seeing everyone, I drove home. I picked Leo up. As soon as we got in the car, he asked me how I had gotten on with baby, and I couldn't lie.

I was going to wait until Friday to update him, but Leo deserved to know. I feel like I have dangled carrots of what could be, and then ripped them away, not once but twice. 

I have told Leo he is going to be a big brother twice, and each time I have taken it away again.

Leo fell into my arms and didn't move, when he looked up he had tears trickling down his face. The what could have been, the joy that we should feel just flashes before your eyes and dissappears like the spark of a firework in the bleak nights sky.

Nothing is set in stone right now, we need to do the Amnio this Friday, have additional scans and wait for the results. I know what has to happen if it is Trisomy 18, but if there is a chance it's something else, I need to know. 

For now though I feel an acceptance, this wasn't anything I did. This was pre-determined at conception, just like the gender, just like how everything else is put together. 

It doesn't make it any easier to digest, but I know how I have to proceed, and when it comes to making those hard decisions I know that I need to be armed with all the facts, have complete certainty and go from there.