My name is Nicole, I am 30 years old and live in Scotland. I was diagnosed with NF2 when I was 16 years old and have several surgeries. You can find my story here Sharing my NF2 Story (Nicole Joyce) – NF2 BioSolutions
I am currently 21 weeks pregnant and due 1st week in October. Having NF2 has it challenges when it comes to being pregnant. Firstly I contacted genetics department in Glasgow who arranged an appointment to see the consultant within the next 2 weeks. I then contacted the local antenatal team.
At the appointment with genetics the Chorionic Villus Sampling (CVS) testing was explained, when I would get it and how I would like to proceed with pregnancy once I had the results. It was a very stressful appointment and knew we had a challenging few weeks ahead of us.
The following week I then had an appointment for my first ultrasound at my local hospital to see how far along in the pregnant I was and to work out a date for Chorionic Villus Sampling (CVS). Going for our first ultrasound my husband and I were a nervous wreck. From there the midwife contacted genetics to organise the CVS testing.
5 weeks later I attended Fetal medicine in Glasgow for my CVS testing. By this point I was 11 weeks and 2 days.
I was very nervous but the team were fantastic and very supportive. I had an ultrasound first to check everything was ok and signed the consent] form to say I was happy to go ahead. There was a small risk of infection and miscarriage.
Next I had a local anaesthetic injection into my stomach, a large needle then goes through the stomach and cells were taken from the placenta. This was slightly painful and uncomfortable. Cells are then taken and checked immediately under the microscope to ensure there are enough cells to send to the lab for testing. Afterwards we were put in a small waiting room and had to wait 30 minutes to ensure I was ok. For 2 days afterwards I had cramping and was advised to take a day or 2 off work to recover.
We were told that within 3 days we would get initial results for Downs Syndrome, Edwards Syndrome, Patau’s Syndrome and the sex of the baby. The results for NF2 could take about 2 weeks in total.
We found out after 3 days that the initial test came back normal and it was a baby boy we were having.
The next few weeks went by extremely slow and was mentally draining for both myself and husband. Eventually we got the phone call from the consultant geneticist 10 days after the procedure to say that the baby was not affected with NF2. Due to me being mosaic I have roughly 5-10% chance of passing on the NF2 gene.
I am glad that we can go on to have a normal healthy pregnancy, NF2 still gets in the way with regards to my tumours and need a brain tumour removed after I have the baby. I was 7 weeks pregnant when I found out that one of my meningioma’s had grown quite a bit, which no one was expecting as it has been stable for many years. However, that is something I am trying not to focus on at the moment.
I must admit I have been through a lot of mentally challenging situations in my life, but waiting on CVS testing was one of the hardest things I’ve had to go through.
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This blog has been created as a way to share real stories, ideas, positivity and even sprinkle in some science. Everyone is welcome here and warmly encouraged to join us in contributing to our community through this blog. If you would like to add anything (anything at all!) then please contact myself, Grace Gregory, at grace@nf2biosolutions.org and we can pop it up on our blog. Watch this space and please join in helping us all connect and share with one another!