Written on 27th March 2019…
We decided that we would like 1 more baby to complete the family. After Eilys was born I had a feeling that I really wanted to have a family of 3 children. I could visualise it. And then we lost Eilys to SMA type 1 and fell pregnant with Evan. A big part of me thought that would be my family of 3. 2 in my arms and one forever in my heart. But again, a few months after Evan was born I started to feel sad that I wouldn’t have that family with 3 live children. That feeling started to creep in again, that yearning for another little light to love.
On discovering that I had fallen pregnant again that punch to the pit of the stomach happened again. SMA Type 1. And again, that 1 in 4 chance seemed like overwhelmingly bad odds to contend with. I contacted the genetics team at Liverpool women’s hospital and talked to the same lovely consultant that we had when I was pregnant with Evan. She talked me through our options again. 1. Do nothing, hope for the best 2. Have the CVS procedure again 3. Pay £1200 to have the Non Invasive Prenatal Diagnostic testing blood test… I had foolish thought that the NIPD might have become the standard test by now but I was wrong. I said we would have the CVS so she told us we needed to have an early scan at around 8w to confirm the pregnancy and give a preliminary date.
I booked myself in with One to One midwives (much to the surprise of the midwife who delivered Evan ) and I was booked in for a scan at 8w. The scan appointment came and it was a beautiful day. I was very nervous, as most people are for early scans. Thankfully this one wasn’t as difficult as the one I had had with Evan. It was a Sunday scan clinic, I was the last appointment and the other 2 couples waiting in the waiting room looked as if they were happy enough. The 2 scan clinics I had been to with Evan at 7w and 8w were in the Early Pregnancy Unit of the hospital and it was quite clear that the other couples waiting had obviously had the worst news and I felt so very sad for them (not a patch on how they were feeling).
My scan was simple enough, the sonographer threatened to do the scan vaginally a few times but thankfully transabdominally was fine and got the measurements she needed! The thought hadn’t crossed my mind and I had not prepped for an up the chuff scan! The sonographer prodded and poked a lot and I think I got a little bruised but the scan photo was a good one and she was happy so sent the scan report to Lucy, the midwife, who forwarded it to the Genetics Consultant…
A couple of days later I had a call from the Genetics Consultant. She said that she had some good news. Birmingham (no idea which hospital she mean or whether she just meant the entire city, haha) had just emailed her and told her that they were now offering NIPD testing for free for SMA. Bonus! The NIPD test is where they take blood from the mother (me) and locate tiny fragments of the baby’s DNA within the blood. They isolate that DNA and test it for SMA by using blood from Eilys, Joe and Me to make a personalised test. Would we be interested, she asked. Of course we bloody well would. I asked her a few questions about the validity of the test and the results so far etc and it all sounded good. It all sounded a lot better than that huge needle through the womb at any rate. She booked us in to take my blood the week after.
It has been a week and a half since the NIPD blood test. The results should be in within 14 calendar days but the first 2 days since the test were when the sample was taken and it journeying to Birmingham. I am on edge. I have been on edge all this week. I thought that the results might be quicker than the 2 week timescale like the CVS one was (they said 2 weeks and it took 2 days). I realise that this test is harder to conduct. I am not sleeping very well anyway. It takes me ages to fall asleep and then pretty much most nights one of the boys wakes up at some point if not both of them and then it takes me a few hours to sleep again. I think I am coping on about 3hrs a night, which is not enough for an Emma! Pregnancy is draining me. My emotions are on a knife edge. I am teetering between a blubbering mess and a ragey twat most days. I am trying not to think about the results but as a result it is all I can think about. I play the possible scenarios out in my head all the time, over and over. I am trying to be pessimistic. This baby has SMA Type 1. I play the conversation with the Genetics Consultant over and over in my head, a conversation that hasn’t happened yet. I think if I keep pessimistic then anything better is a bonus and I will be able to handle it better. I know that isn’t true but I am trying to protect my heart and my head.
Hopefully these results will get to me before 12w pregnant so if it is bad news I will be able to have a medical rather than a surgical abortion. I may sound flippant but it is the reality of this situation. There is no way we could put ourselves through loving and losing another baby to SMA type 1 again. And yes there is a “treatment” at the moment but it isn’t being recommended by NICE so we would be in the same situation as we were in with Eilys but with the added kick in the vagina that there is a treatment out there that could help but no funding for it. And like I have said before, there is no way I could let Dylan love and lose another sibling (I know you can’t ever guarantee anything but…)
So we wait… and wait… and wait… I have convinced myself that I would get the results on Monday… then I convinced myself I would get them on Tuesday… and now I convinced myself that I would get them today… but so far nothing. I don’t know whether a wait is a good thing or a bad thing really. I am impatient and all this not sleeping and brain whirring is exhausting on top of the exhaustion of being 10 weeks pregnant. I am expecting bad news but trying not to let myself hope for good news. And so I wait… wait… wait… for another week at the most, I hope!
Thanks for reading