28.02.2017 World Rare Disease Day: Our Genetics Journey, Part 2.

If you haven’t read Part 1 on this post, it is available here. Now, we’re fast forwarding from the point where we discovered we were having a daughter, past her birth in September 2015, up to November 2016…

We had previously agreed that, regardless of Primrose’s age, we would begin trying for another baby as soon as my cycle returned to normal. We knew that conceiving could take longer second time around, and that any pregnancy could potentially have to be ended, should the baby be suffering with PMD, and that the toll on our emotions and my body could mean that we could be set back by many months. Lots of ifs and buts! Due to breastfeeding, this didn’t happen until 14 months after she was born, on November 1st 2016.

I knew by the end of November that I was pregnant and a test in mid-December confirmed this. Again, in lieu of the excitement we wanted to feel hovered a sense of deja vu. Sexing blood tests were booked for early January and, thankfully, the combination of Christmas and a toddler made time pass quickly. We went to Stoke Mandeville this time, rather than starting off at a different hospital and then switching for our delivery like last time. We were better prepared emotionally this time – having the scan at 9 weeks didn’t come as a shock and we knew we’d be in for a wait on the gender blood tests.

Sure enough, from that Monday, we waited 11 days for the results. Given the fact that I’d felt sick for quite a few weeks, as opposed to about half a day in my last pregnancy, I had a suspicion that I was carrying a boy. This proved correct. We were booked straight in for a CVS (Chorionic Villus Sampling) three days later, on the Monday, thankful for such a short wait. This procedure couldn’t have been carried out any earlier (we were exactly 11 weeks when the test was done), and, with the idea that we may have to terminate the pregnancy looming large, we were glad that things were moved so swiftly.

A CVS is an odd feeling. An ultrasound means that the baby and placenta are visible on a screen and a (very fine – I promise!) needle is inserted into the placenta via the abdomen. The sensation as the cells are collected is strange; it feels as thought the needle is being ‘pumped’ to suck up enough cells to create viable sample. Whilst a local anaesthetic means no actual pain, it is quite uncomfortable. This ample is couriered straight to a laboratory (Oxford, in our case) and the cells are grown under a microscope, so any genetic mutations can be detected.

We were initially told we’d have our results within a few days. Whilst this is true for more common conditions (Down’s, Edwards’ and Patau Syndromes, for example), the look on our lovely consultant’s face suggested we should never have been told this. The hospital called us later that afternoon to say ‘early next week’ was the time frame they had been given by the lab.

So, that was it. A 50/50 chance of a healthy baby and at least a week’s wait. I knew this would test my positivity to its limit, especially as my husband was away on a school trip for five days during this time. I remained initially cheery, putting things to the back of my mind. Primrose, the Tribe and other good friends kept me busy, which was a blessing. Once the weekend rolled around and Phil went away, my optimism dwindled. I convinced myself that no news was, in fact, bad news and started mentally preparing for what lay ahead. This wasn’t helped by the media at the time being filled with news about Trump signing an Executive Order which meant that millions of women in the developing world would be denied the right to safe abortion without fear. Effectively, they had a basic Human Right removed and, of course, social media was full of anti-choice warriors, praising the move, calling anyone who has an abortion a ‘murderer’ and others saying that ‘abortion is acceptable but over 12 weeks, it MURDER.’ I was 12 weeks pregnant.

Monday and Tuesday came and went. A call to the hospital on the Monday afternoon told me what I already knew… “We can’t rush the lab; they have to be 100% certain of the results.” My rational side told me to stop being impatient. We are lucky to live in a country where these tests can be done and where Women’s Rights are so much better than in most parts of the world. Weirdly, at this point, I had a second wave of positivity. I felt the baby moving – seven weeks earlier than last time but that unmistakable fluttering sensation – and Phil and I both commented that, if the baby had the condition, surely he would move around less than if he was healthy. After all, on both scans he’d been ‘jiving about’, as he put it.

On Wednesday afternoon, I called the hospital again, just to get an update on when we could expect the result. It was no longer ‘early’ in the week so I needed a new time scale to work to. At 4.29pm, the screening coordinator said she’d been told that the lab were ‘just writing up the report’. I panicked, knowing that she finished for the day at 4.30pm. Surely not another night’s wait?! Kindly, she stayed late and called me back at 5.00pm. There had been ‘No genetic mutation detected’. I was/am carrying a healthy baby boy.

We cannot believe that, for the second time, we have been so unbelievably fortunate. With a 1/4 chance of a baby having the condition, we were very much prepared for the worst. So, The Mother Side will be gaining a new member, and Primrose a little brother, in August (already practising her baby massage)…

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As I said in Sunday’s post, we are forever grateful to live in a country with such brilliant research and expertise. Despite the wait, we felt supremely lucky through the process to be in the hands of some incredibly knowledgeable and talented people – things like this are omitted from the media portrayal of the NHS and should be widely reported.

To anyone else going through a similar process:
– Whilst you would ordinarily keep your pregnancy quiet until you reach 12 weeks, I would recommend selecting some close friends and family to share your news with. The waiting is intense and having support from people who know what’s going on is invaluable. It also means you don’t have to explain any low moods or crying as they will understand.
– Stay busy but also rest. Not only do you need to care for your body because you’re pregnant, your mind will be in overdrive. Self-care is vital. See our tips in an old post here.
– Talk! Especially to your partner. It’s easy to shut yourself off but your partner is going through this with you. Not talking will make them feel helpless and unable to open up about their own emotions.
– Do your research but avoid forums if possible. Stick to factual information when it comes to the condition you’re being tested for, and for procedures like CVS, amniocentesis and termination of pregnancy. Forums and social media are full of people who think they know best and, whilst some will have useful experiences to share, others are simply the cyber equivalent of the Daily Mail – at best, unhelpful and, at worst, just out to scare you.
–  Trust those in the know. I will never meet half the people who were involved in this process, but I never doubted their expertise. The NHS gets a bad press and, yes, sometimes errors happen, but we as a nation are extremely privileged. I feel guilty for badgering them for our results but my calls were always handled in the same way as our face to face appointments and procedures – with kindness, empathy and knowledge.

 

Jo, The Mother Side xx

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