Saturday, 14 November 2015

Smiling but dying inside: our DNA results

I haven't slept properly since my 20 week scan back in early August. Each night I lay awake until around 3am wrestling with  my grief for Sebastian and my anxiety for the future. I've lost all my passion for everything I once loved, whether it be my work (although I have not yet returned) or my never ending desire to save every animal. I just can't find the energy to fight those battles when I now have my own.

This past week has been no different. 

On Thursday we found out the first half of our DNA results. We were given the news that the microdeletion of chromosome 15q11.2 that Sebastian had was inherited through me. Whilst this is not a fatal diagnosis and was thus secondary to Sebastian's skeletal dysplasia, it is known to affect people through the routes of autism, mental health, learning difficulties, epilepsy and some other physical disabilities also. I am, an unaffected carrier and my parents are now being encouraged to also be tested. 

When we were told of this news we were shocked. The doctor told us as if we were expecting it to have been the case. But we had convinced ourselves it was spontaneous in order to get through the past 7 weeks.  As we sat in her office, the same office where she told us that Sebastian was going to die, we stared at her with hope in our eyes, She paused for a moment and looked at me as she said, "Lauren we found that you are the carrier to this microdeletion" 

At first I was shocked. I turned to James and said "it was me!" As if he hadn't been sitting next to me the whole time. We had taken taken bets on who had it but neither really believed we did. 

After the initial shock my heart sunk. 

Tears welled up in my eyes as I came to terms with the fact that I had given our little boy this diagnosis, another potential struggle if he was to survive. I couldn't believe it. To be honest, I still can't. 

I feel like our job as a mother is to protect our babies, to fight their battles for them and to give them strength to get through life - all three things I now know to have failed at with Sebastian. Why couldn't this have been spontaneous? Didn't the universe know I have enough guilt to live with? Why did it need to kick me when I'm already down? If we next find out that I have also given him skeletal dysplasia, the condition that took his life, I honestly will give up. My heart breaks just by thinking about it.

My family have all asked me how James is regarding these results, and to be honest he is doing well. He is being incredibly strong for me and has not shown one ounce of disappointment, even though I know he is feeling it. He is trying to be supportive to me and lessen any blame or guilt I put on myself. He does not see the microdeletion as a big deal as now that he knows I have it, he believes Sebastian (or our next baby) could also have been just fine too. It's a positive way to look at it, I guess.

So, what next? We don't know. 

The results for the skeletal dysplasia could still be months or years away (although the geneticist is going to try and have the tests completed at an alternative lab to get it faster), and the worst is that we may never know what gene mutation caused it. 

As many people who know us would know that we would like to give Sebastian a sibling as soon as possible. Our arms literally ache just at the thought of not being able to hold and cuddle Sebastian, or to complete my pregnancy. It was just today that I opened my emails to be reminded by a subscription I joined that I should be 33 weeks pregnant. I can't even bear to be near a pregnant woman lately. The wonder of what size my belly would be if Sebastian was still here, or whether I will get to ever experience that again is so overpowering.  It controls my thoughts until I end up crying. It's hard. Really hard. I am crying now just at the thought of it and I know eventually I will be numb to the whole idea because it is that tormenting.

I know that at the moment we have three options (which is great if you are an optimistic person, but I struggle with optimism at the moment). Our options are:

A) try naturally and risk it all. They can do a CVS at 10 weeks and determine the presence of microdeletion; and then if we choose we can terminate the pregnancy if we don't want to gamble the chances of the baby being affected or not (yes, that's right they give that option to parents who have lost a baby - like that decision is made so easily).

B) start IVF with PGD. Now that we know this microdeletion is inherited, there is a 50% chance for each of my eggs that they are affected. Whilst The PGD part of IVF is very expensive, there is no guarantee of success, as embryos may not last the biopsy, they may not "stick" once transferred and they simply may not collect any eggs that are unaffected. However due to the costs of this process we will probably be only able to afford one attempt as the money will come from our mortgage, so it would be smarter to wait until we get all the results so that they can check embryos for that too. We are able to start making appointments though and going on wait lists.

C) wait for the skeletal dysplasia results and then decide to either do option A (if skeletal dysplasia is not inherited) or B. 

I really, really hope that we are not carrying a defective gene for the skeletal dysplasia as our chances then to find an embryo (naturally or through IVF) that is healthy become much less (25% chance baby will have skeletal dysplasia on top of microdeletion's 50%).

We are well aware that we can get eggs donated (and I have had amazing people offer theirs) and adopt children, and they are at the back of our minds. But for now we need to fight for our chances of having our own as otherwise we will always wonder. 

I have no idea how I am able to move forward from here. There is now some concern as to my own health in regards to the microdeletion as it has been known to adversely and significantly affect people in adulthood, so I have that thrown in the mix. 
But I also don't know how next week I am going to return to work, back to a routine like nothing happened. How I am going to live each day without knowing when I will find out the remaining results, or how to decide on our options. The constant concerns taunt me 24/7 and as I write this at 3.52am, I wonder whether this is my new normal, a sleep deprived battle full of anxiety. 

Some days I wish we didn't have the technology we have now as the knowledge we have about our genetics can be overhwhelming and just taunts us really with all the "what ifs" - I wonder how blissful it would have been to not know any of this information...

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