Babipurian Real Life Stories: Our Miracle Baby, Zephy

It had been a really normal pregnancy up until my 12 week scan, the usual nausea and tiredness. We were excited to see our baby number 2 at the scan.  The scan went well and they asked us to hang around to wait for the results of nuchal screening test. I assumed there would be no concerns. They called us into a room and sat us down and told us that based on my blood tests and my age we had a 1:29 chance of our baby having Down syndrome.  

We were given a few option at that point. We were offered a termination, we were given the option to pay for the NIPT (non invasive prenatal testing), have a cvs/amnio or continue as normal. They explained that one of the tests they do for something called Papp-A was extremely low. 

We left the appointment feeling positive that the baby had looked good on the scan but confused about the 1:29 chance of Down Syndrome. I instantly started googling Papp-A and discovered a link to zinc and since I was still breastfeeding my toddler I convinced myself I was deficient in zinc hence the low reading. In hindsight I was probably in a bit of denial I genuinely put Down Syndrome to the back of my mind and began taking the low dose aspirin prescribed by the consultant to help as much blood through to the baby as possible. There is a concern with low Papp-A that the baby can fail to grow in the second trimester so that was our main worry.

By the time it came to the 20 week scan we had pretty much put any concerns about Down syndrome to the back of our minds. Then sonographer was lovely and made us feel at ease but at the end said she wanted her colleague to come and have a look. She came in and told us that Zephy was very ill with something called Fetal Hydrops (something I’d never heard of). It’s a build up of fluid in two or more areas of the body. Zephys fluid was around his heart, lungs and brain. They told us he had little chance of surviving the pregnancy and they recommended we have a termination. They said the fluid and the now increased nuchal measurement suggested a chromosomal condition so we had an amniocentesis there and then to get an accurate diagnosis. 

I went home and put myself on bed rest as I was terrified of miscarrying. It was never really a question or decision for us but for want of a better word we decided to continue the pregnancy until it came to a natural end whilst hoping and praying for a miracle. We got the phone call a few days later that he had tested positive for Trisomy 21, more commonly known as Down Syndrome. After this we were booked in for extra scans looking at his heart and to check how the hydrops was progressing. 

After 5 weeks we got the news we had been hoping for and that the fluid had resolved itself to a normal level! It was at this point that we started to face the diagnosis of Down syndrome and start to think about what that would mean for our baby and family. 

It was a scary time in all honestly. Fear of the unknown, fear of potential medical issues, fear of what other people would say and think. We told our immediate families and very close friends all of whom were so supportive. I told a couple of people at work as well but other than that we kept most of what we were going through to ourselves. We wanted to meet Zephy and have him to ourselves for a bit before we shared the news with everyone. The usual comments people make when you were pregnant often left me feeling hurt and would bring all the fears and sadness to the surface again. There was even people at my baby shower that didn’t know our news and whilst it was a lovely day it was tinged with a little sadness for me.

Zephy was born on Boxing Day after I was dramatically induced on Christmas Day due to the placenta beginning to fail.

Zephy was in the NICU/SCBU for two weeks as he was born at 36 weeks and was too sleepy to feed. During this time and for his first week at home he was tube fed whilst we tried to transition him to a bottle and then onto breastfeeding. We managed to be exclusively breastfeeding by the time he was a month old. This had been one of my fears during pregnancy so I was very proud that despite a rocky start we managed to do it.

We have been very blessed in that Zephy doesn’t have any major health worries and hasn’t had to have any surgeries as many of his friends with Down syndrome have. He has hypotonia which is low muscle tone and this means it takes him longer to reach his gross motor milestones and we do physiotherapy very regularly to help with that. We also do lots of  speech and language therapy and occupational therapy to work on speech, eating, fine motor skills etc. They discovered when he was 12 months that he was aspirating when he drank water so we have to use a thickener for his drinks until he hopefully grows out of it.

Zephy is 19 months old and I’m so proud of him. He works so hard to accomplish things that come easier to other babies and he does it mostly with a smile on his face. He has changed my life and my outlook on a lot of things. Since he was born I’ve started writing a blog which I’d never have done previously. He brings so much to our family and we cannot imagine life without him.

I’d like to say if any one is reading this and facing a pre natal diagnosis, reach out, the community is so welcoming and would love to share a glimpse of our world with you. We can often paint a different picture from that of the health professionals.

This is also a great resource put together by a group of parents.

https://positiveaboutdownsyndrome.co.uk

Thank you so much to Sarah for sharing her family’s story with us xx

You can follow more about how Zephy is getting on over at https://www.facebook.com/chromosomesandcurls/