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We are Mark and Claire. I’m from France and Mark is from Dorset. We live in Bristol.

In February 2015, we found out that we were expecting a baby, a little girl.

I had a very enjoyable pregnancy, my first and only one! Practising yoga twice a week, meditation to be mentally prepared for a positive birth, all booked to go in a midwife led birth centre, cycling to work every day until my 34 weeks, only having to stop due to pelvic pain…

At 38 weeks, the midwife told us that my bump was quite small and off the chart. Following a scan few days later, I was advised to have an induction as baby B had a reduced abdominal circumference. This wasn’t the plan! We had to forget giving birth in a midwife led centre. It will be in hospital now.  

I felt very deeply that baby B was very happy there and declined the induction but requested daily monitoring instead, which was accepted. So, every day I commuted to Southmead hospital in north Bristol to hear that the bump had still not grown, and an induction was advised, but that baby B’s heart was strong and regular. At 39 weeks and 6 days I developed signs of light pre-eclampsia (with protein in my urine) a lovely consultant told me that now the induction was needed. I accepted.

Following my daily monitoring, I was admitted on the ward for an induction in the evening. The induction didn’t happen until just before midnight... one of those hospital waiting games! I can’t remember at what time the contractions started but I breathed through them and had a warm bath. But then they started to be closer and closer, too close and I knew somehow that it wasn’t quite right. I called a nurse, I wasn’t dilated at all but in real pain. Baby B’s heart started dropping steeply. It was time to go for an emergency C section. I wasn’t ready for this but drugged up with gas and air. I remember being wheeled down the aisle with a very funny anaesthetist who helped me to relax and made me laugh to stop me crying. It was 6.30am when baby B was born, on her exact due date (she has lived to an exact routine ever since!) She didn’t have a name yet, we wanted to wait to meet her first. I had to ask to see her before she was rushed to NICU as she had issues breathing. I couldn’t hold her but will always remember her face.

And then it went all very quick and it is still very blurred. I was drugged up with morphine (which was great) and wheeled to NICU to see baby B only in the late afternoon. Mark told me that baby has an extra finger and an extra toe and needs CPAP oxygen to breathe and has very low sugar level. She couldn’t be breastfed. I start expressing milk and freezing litres and litres of it (we still joke about it as I’m quite petite but I was producing like a Holstein Friesian on a concentrate diet!)

Mark asked the consultant if extra digits could be a sign of something. It was then decided to do some genetic testing. I started Googling what an extra digit and low sugar could be linked to and found articles about trisomy 13. It just couldn’t be that surely, the odds were far too long and we are never that lucky.

Day 3, the NICU consultant met us in a special room and he explained that baby has trisomy 13. We collapsed. That was exactly what I had read the evening before. He handed us a leaflet and told us that she may not make it, may live for few days or weeks, maximum a year.

We went straight back to her room and I kept expressing my milk and focusing on starting to feed baby B orally with a special bottle as she couldn’t latch, using her NG tube once she couldn’t cope anymore, (normally after about 30 seconds) At day 4, she was diagnosed with full trisomy 13. Anouk Cleo (name finally decided after week 1!) has always been very intuitive and I knew from the start that she was stronger than she looked. She stayed 2 weeks in NICU and we were discharged just before Christmas, Mark having rushed out to get an XL tree that we thought we weren’t going to need. Our first Christmas.

Anouk was doing really well. At 2 months, we requested a second genetic testing of her skin cells, it confirmed that she was actually trisomy 13 mosaic. It didn’t really change anything but somehow, we felt that we needed to know to be able to fight for her.

One day, I received a letter from the consultant I met when I accepted the induction. She was asking if I wanted to meet her. I will always remember how emotional I became reading her letter. The light pre-eclampsia I had was in fact linked to Anouk’s condition but she confirmed that nothing was seen during all scans done during my pregnancy. 

She had a gastrostomy at 9 months old which helped so much with her reflux/vomiting. At 9 months, the seizures also started. This was scary. She will stop breathing and turn blue. But she was growing in length mainly as her weight was always out of scale but we “sacked” the nutritionist to avoid having to listen that she needed to put more weight on! She was a very happy little girl who learned to eat orally her puree after months of perseverance and against all expectations. I knew she could do it. She still loves her food and is a light weight but so am I, and I have all the correct number of chromosomes!

We’ve had few trips to the hospital by ambulance with quite a few status epilepticus. But she always made it through them. The scariest time, when post admission to the Neuro ward she went into a Status Epilepticus again and the RESUS team were buzzed to intubate and transfer her to PICU. But the little girl stopped seizing just as the anaesthetist was preparing the injection to sedate her. She is as stubborn as her mum is (her dad says).

UTIs and seizures are her main problem and the main current discussions are whether or not to operate and de-tether her spinal cord; quite a major operation, and not without severe risks, but a possible solution to the UTIs. The Neurosurgeon is nice enough, but the decision to operate is clearly with us. Whilst we might be the experts on Anouk and her condition, we’d much rather not be the experts and be able to confidently take the advice of a trusted professional.

Progress is of course very slow, and she still struggles with head control and sitting unassisted, but has had periods when she makes really good effort to stand assisted. She loves wearing her hearing aids and going to school. The aquarium is a big hit and she has a passion for music, all sort of styles, including regular morning sessions on the piano (feet only) which is a joy for us, but less so for the neighbours!

Anouk will be 6 in November 2021. We love her to pieces!


Created: 08/09/2021 08:31

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