Having just left the hospital we are sat feeling a strange mix of relief and sadness. Both the scan and the blood tests have confirmed a diagnosis of Thanatraphophic Dysplasia. This confirms:
- Aurelia’s condition is lethal. She has an increased risk of being stillborn but the consultant believes it’s quite likely she will get to full term. He also stressed to us we may get minutes, hours or even days with her after the birth.
- The best news for me is that Aurelia will not suffer either during the pregnancy, labour or after birth. We can put in place palliative care for her after birth so she is comfortable and is able to slip away when her body is ready to.
- It is very, very unlikely that this is anything we have passed on through our genes. The vast, vast majority of the time this is a random mutation in a gene which we could have done nothing to prevent. This of course gives us hope for the future, but to double check we are being referred to a geneticist.
- The pregnancy itself is likely to be very normal and we just need to carry on as we would of she was healthy.
We are of course sad as it confirms we will not have our little girl long, but for me it feels like a peaceful sadness. We’ve done all we can so far for her, and will continue to do so.
One thing (if any couples in a similar position come across this) is that both the Whittington and UCL have been absolutely brilliant- thank God for the NHS. Both the two consultants have been kind, informative and compassionate, and importantly, very supportive of our decision. The team surrounding them have also been amazing and gone out of their way to help make everything as easy as possible for us.
Next steps are for another appointment with our consultant at the Whittington to dot the i’s and cross the t’s as such, a referral to the geneticist and we will then be passed on to the obstetrician and neonatal teams to talk about what will happen at the birth and after Aurelia is born.
Finally a last silver lining to a dark cloud is we so enjoyed watching Aurelia again today. After the third scan in under 2 weeks we have noticed she has a tendency to sleep with her hands by her face. We also got another lovely picture of Aurelia today. Again you can see that beautiful button nose of hers (I so love that nose). At our 20 week scan she wouldn’t pose for a profile shot so we got some slightly spooky face on pictures of her so it was precious to receive this one.
Thank you again friends and family for all your support this far. We really would not be doing so well as we are without you.