Dear Eloise…

My darling girl, Mommy and Daddy are having a really tough time at the moment and Mommy feels that she needs to talk it through with you, so you understand what we are feeling and it may help to explain any decisions that we make in the next few days.

At 8am on Thursday 15th November, we got the call that no expectant parents should ever get. The Fetal Medicine Specialist, Dr Farrell, phoned to tell us that you have a chromosomal abnormality and she would recommend that we terminate the pregnancy… terminate you. ūüė•

She explained that you have a translocation of 3 chromosomes (we have since found out it is no’s 2, 7 & 20), which means something along the lines that some of chromosome 2 is on chromosome 7 and 20 and vice versa. Now, translocations aren’t necessarily a bad thing, when they are balanced, as you still carry the same amount of gene matter, just in a different configuration, if that makes sense my baby girl? But, balanced translocations are normally passed on from one parent to the child and tend to happen between 2 chromosomes… not 3.

Mommy put the phone down to Dr Farrell saying that we will speak to Dr Baker, Mommies OBGYN (mostly to swear at him, as he had told Mommy and Daddy that the¬†likelihood¬†of there being chromosomal issues were slim to none, once the initial results for Trisomy’s 13, 15 & 18 and Downs Syndrome had come back clear). Luckily Daddy hadn’t left for work yet and so we both cuddled you and cried a bucketful of tears.

In the midst of our tears, we decided that we needed to meet with the Geneticist who processed Mommies amnio results and who is the one who really knows what she is talking about when it comes to chromosomes. We made an appointment to see her at 11:30am that day, followed by a trip to Dr Baker at 1pm.

Dr Rosendorff explained that neither me, nor your Daddy are carriers of translocated chromosomes and your configuration (ie: 2, 7 & 20) is extremely rare, meaning that, with us not being carriers, the odds of you getting it and in this configuration are ¬†approx 1: 1million. Can you believe that Eloise?? The chances of hydrocephalus are 1:1000 and Mommy and Daddy couldn’t believe their luck when you appeared to have it and now… 1: 1million?? This just cannot be happening to us and to you, our precious miracle!! She also explained that, without the presence of the hydro, the chances of you having severe birth defects are 50/50 (taken from studies done on people/kids with translocations) BUT, with the addition of hydro and the obvious neurological effects that has, your chances jump to 70/80%….

Well, she may as well have shot Mommy and Daddy in the heart right there and then, as you could literally see our hearts breaking into a thousand different pieces when we heard those words. Dr Rosendorff went on to say that she didn’t recommend that we carry on with the MRI we had booked for 24 weeks, to check on your brain and to see if the hydro was affecting your brain matter development, as now the problem is that much deeper…it’s chromosomal.

The appointment with Dr Baker went along the lines of, given all the facts, he recommended a termination too and referred us to a Clinical Psychologist who also reiterated what a 3 way translocation which, although may appear balanced, with the chances of breaks in genes in all those changes, there is no way telling what could be impaired, obv given the hydro, it looks as if at least part of it is neurological.

Between appointments we managed to fit in a 3D scan so we could get a good look at you, you are so beautiful! You were lying with your legs up by your face and you were kicking away…you did make it a bit difficult for the lady doing the scan to get a good pic, but she did in the end and printed off more than 40 for us. We will treasure that half an hour of watching you move and play, for the rest of our lives.

Mommy and Daddy were finished by the time we got home that night and we also had to stop off on the way to tell your Grandparents, as they were going away on Friday… breaking their hearts too.

What followed was a sleepless night of disbelief and tears and cuddling you and telling you how much we love you and want you and need you in our lives. You were kicking up a storm (whilst we are on the subject of you kicking, I want to thank you from the bottom of my heart for your kicks that Mommy first started feeling the afternoon of the amnio, I was so worried that the amnio had hurt you in some way and, feeling those first kicks, were your way of reassuring me that you were fine. I have treasured every movement since then and your Daddy couldn’t wait to be able to feel them… when he did manage to, 2 weeks later, on Mommies birthday ūüôā you should have seen the wonder on his face, he has never looked prouder. Ironically, Mommy has mentioned in a previous post that she didn’t think that she would ever relax during this pregnancy, for worrying about you but, once I felt you kick, I know that, in a different situation, all worry would have flown right out the window and my enjoyment of you would have begun in earnest).

We have since spent the last 3 days, just the 3 of us, taking you swimming, playing you music and reading you stories and, inbetween, talking till our hearts could start to understand what the doctors were really expecting us to do. As I write this, with tears rolling down my face, you are listening to Rockabye Baby, rock songs made into lullaby’s, Daddy was so proud when he found them, he got 1 CD of Mommies favourite band, Bon Jovi (I know, I am an embarrassment!) and 1 CD of his favourite…Coldplay. He was so looking forward to rocking you to sleep whilst they played.

In this time that we have spent as our family of 3, Daddy and I have decided 2 things, we are not going to give up on you and we are going to find out as much about your ‘condition ‘ as we possibly can. Starting with going ahead with the MRI tomorrow. Don’t get me wrong, Mommy is terrified about going into that clunking machine but, if it helps us see what is happening in your brain and whether the doctor’s diagnoses is fair or not, then I will do it for you, my darling Eloise. We are also trying to get to see the professor at Wits University’s Human Genetics Department for a 2nd opinion on the translocation and, depending on the results of tomorrow’s MRI, we may send your cells off to America to have what is called a Micro Array test (not carried out in SA yet), to try and see if there are any deletions of any genetic materials where your chromosomes have translocated.

So you see my Precious Baby Girl, we are not just giving up on you, we will not be pushed by the docs because of what they think is best, Mommy and Daddy are the only 2 people in this whole world who can decide what is best for you and, whilst we do not want you to have a life where you suffer any sort of pain, we will only make a decision when we have all the facts that we can possibly get, when WE know the answer, when God shows us the way.

All my love, forever and ever,

Mommy xxxxxxxxxxxxxxxxxxxxxxxxxx <3<3<3 xxxxxxxxxxxxxxxxxxxxxxxxxxxxxx

Advertisements

The day our world came crashing down… again

The week leading up to our 20 week scan was a terrifying one for me, for reasons I can’t quite put my finger on. I was so worried about the upcoming scan with our gynae and then the full fetal assessment scan (FAS) at the fetal assessment centre (FAC) ¬†following on 6 days later. I have been worried about all our scans since¬†that scan at 7 weeks, but nothing like this…for the week leading up to it I had this feeling of dread in the pit of my stomach, I didn’t sleep well and I was snappy with my wonderful and patient hubby…but he understood, because he was feeling it too. This was when the serious stuff starts, when they fully monitor the heart, the brain and all the organs to check if they were functioning properly, so this was the most important test our baby girl had faced yet…even more important that the 12 week downs and nuchal fold check.

So, the 23rd October found us in our obgyn’s waiting room and he was running an hour and a half behind… yet more time for my mind to torture itself on what could be found. We went into our appointment and started the scan after the usual questions on bleeding (no), movement (not yet ūüė¶ ) etc. The minute he put the scanner on my belly, yup came baby girl’s head and the measuring began. For the next 10 mins or so, we got to watch our beautiful girl bounce around while doc took measurements and then he moved back to the brain and said the words that stopped our hearts once again…”here’s something that I am not happy with”.

He went on to show us that baby girl’s ventricles were enlarged and then my mind shut down and I can’t remember much else of what he said…all I could think is “why is this happening to us again? Haven’t we been through enough to a) get pregnant and b) to 20 weeks???” He decided to pull our FAS forward to the next day, as the doc there is a fetal medicine specialist and would be more qualified to advise what’s what. Now, the FAC is a very busy place but, when doc made the phone call, he mentioned what he had seen and that we were an IVF pregnancy (as if that makes us that little more special and important, which was nice of him) and they squeezed us in.

So, we left his offices in tears of disbelief and shock and worry for our beautiful girl and we had to drive home in different cars…in rush hour traffic, which made a 15 min journey 1,5 hours. I used the time stopping and starting to bawl, bellow, scream and get out as much of the emotions that I was feeling, as I could. Plus, I began googling to find out what I could. By the time we got home, hubby and I were emotionally finished and just sat on the sofa holding each other, heads filled with lots of different outcomes and possibilities thank to flipping Dr Google (darn those smart phones!!). We hardly got any sleep that night but we were armed with some questions for the doctor and knew more about ventricles in the brain than we had done 10 hours previously.

We were emotional wreck’s as we sat in the waiting room, knowing that this was pretty much it…when we find out what our baby girl is facing in terms of potential disability and brain damage. As soon as we were called through, I burst into tears, the emotion just getting the better of me. I composed myself and we started the scan. Doc measured everything, including the ventricles, which were presenting at 14.7mm…the limit for normal for girls is 10mm, so hers were 50% bigger than they should of been. She wasn’t too worried about it (having seen many cases like this in her career I guess), but that measurement freaked hubby and I out big time, as we were hoping for under 12mm. She suggested that we had an amniocentesis there and then to rule out chromosomal issues that may cause it, especially that, during our 12 week scan our bloods showed a 1:152 chance of Trisomy 18. We agreed, knowing the risks involved, but also knowing that she did these on a nearly daily basis and so she is proficient and we trust her ability. I am not going to lie, it did hurt, but it was bearable. She offered us the option of getting¬†interim¬†results within 5 days (which we had to pay R2k for), or just to wait 3 weeks for the full results (that the medical aid paid for). Of course we opted for having¬†interim¬†results before the full ones, how could we possibly be kept waiting for 3 more weeks?? She then said that, without any chromosomal abnormalities and, taking into account that everything else was forming perfectly ie brain stem, heart, liver, spleen, body parts (it was the most amazing experience watching how proud hubby was of our precious one, every time doc declared something as “perfect” during the scan, he had tears in his eyes and his face was filled with such love, it was heartbreaking and beautiful, all at the same time), she thinks it could be a blockage causing the cerebral spinal fluid not to drain into the spine, from the brain as it should. This would mean a shunt being inserted into our baby girls head the day after she is born, to drain the fluid away ūüė¶ Her head was currently measuring a week ahead of her body, but that in itself wasn’t a concern, as some babies do just have big heads.

So, we left and the waiting resumed…

As much as I know God has a plan for all of us, I just can’t help dwelling on the unfairness of the situation…how can some people have perfectly healthy babies that they don’t even want?? How can some grow 2 or even 3 perfect babies in their bellies and I can’t even grow 1?? And, the most important question of the lot…why us?? Haven’t we now been through enough?? Am I not a good person? Do I not help others when I can, give willingly to charity, live a good and God loving life? Have I not behaved myself¬†impeccably¬†during this pregnancy? Instantly giving up the wine I enjoyed a glass of every day, eating healthily, not smoking, taking all my vitamins…why can some people drink and smoke their way through 9 months and give birth to a healthy baby at the end of it?????

I just can’t get my head around the unfairness of it all…but I guess I will have to, or it will drive me mad ūüė¶

Interim results: no signs of down syndrome nor any of the trisomy’s, we can start to breathe a bit easier again and now we wait for the full results.