We had an appointment with my consultant for a follow up after the miscarriage.
It was also to get the results of the post mortem. We arrived and he explained that not all the results were back yet. So we had yet more waiting. He went over the information he had, explained to us that our baby had a missing eye, a malformed nose, and a cleft palate. He stated that he was waiting for the chromosome test results to come back. He offered a follow up appointment, but also suggested that he might be able to speak to me on the phone, although if the results were a certain way he would need us both in again anyway. So I requested another appointment, as I knew that if I didn't have one set up, and had a phone consultation asking us to come in... well, I think the bag would have split, and the nerves would just be in a puddle on the floor. I kept calling, asking if we could have an earlier appointment, as we were given 19 April 2017, and I just wanted all the information, so we could get on with it. One day, I was speaking to Dr. Gordon's secretary and she informed me that the results were in, and suggested that Dr. Gordon could call me. So call he did. He explained that the baby had too much of chromosome 13, and they needed to check if it was a random mutation when the baby was formed, or if it was something that was part of Lee or I. We were in the next day for some blood tests.
The test results were ready on 19 April 17.
Lee thought that seeing something drawn on the piece of paper on the front of my notes was not a good sign when we sat down. He was right.
Science Lesson
Most people have 46 chromosomes. If you imagine all the chromosomes as different drinks: water; milk; lemonade; beer... Lets say that chromosome 13 is lemonade, and chromosome 4 is beer, and most people have two lemonades, and two beers as part of their chromosomes. Sometimes, a balanced translocation can happen, where the lemonade and beer mix together as they are being poured. So what happens is that a person has one lemonade, one beer, and two shandies. In terms of that person, that's completely fine (usually) and they grow and develop normally. It's only when they try to procreate that things go wrong. When the body makes eggs and sperm, it takes only half of the chromosomes needed to make a person, because the other half comes from the other person. What that means is that in someone with a balanced translocation, instead of always producing eggs or sperm with one beer and one lemonade, they create either:
A. A beer and a lemonade
B. Two shandies
C. A beer and a shandy
D. A lemonade and a shandy
Now, given we need two beers, and two lemonades.
If we have option A or B, we should create a "normal" embryo, which creates a "normal" foetus, which grows and develops into a baby that is able to survive, grow, and develop in the way that the majority of the population do.
If we have option C, we have too much beer, and not enough lemonade.
If we have option D, we have too much lemonade, and not enough beer.
End of lesson.
So, on 19 April 17, we were told that two out of four options would be viable, and two would not. Always. That's 50% chance of a healthy pregnancy, 50% chance of either a miscarriage, or a disabled child. The severity of the disability, we don't know. We don't know if it would get that far, or if it would die earlier than our first.
Dr. Gordon was not able to give us a lot of information, he's not a genetics specialist, he's an obstetrician/gynaecologist. He confirmed that we would like to be referred to the geneticist to discuss the options, the chances - because apparently it's not quite as simple as 50/50, given the chances that the defective options might not survive long enough to actually successfully make it to the table. They might fall off the drinks tray early; it just so happened that this pregnancy didn't fall off the drinks tray.
That news, when written down, or explained, doesn't seem so bad really; 50% chance? That's quite good if you're talking about winning the lotto, but we're not. We're talking about our hopes and dreams for the future. We're talking about the changes that have to be made in the way we go about realising those hopes and dreams. We were told to hold off trying until we had seen the geneticist. We were told that we may be offered IVF, with pre-implantation genetic diagnosis. We had to come to terms with the fact that one of us, if we had chosen anyone else, may not have had to deal with this heartache. However both of us are in this together, and both of us know that to even consider being with anyone else is not what we signed up for when we got married. Since that news arrived it's been a paradigm shift for us, in so many ways.
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