Life After a Down Syndrome diagnosis

       

Zephaniah is a cheeky 18 month old little boy who had a Down Syndrome Diagnosis during pregnancy. Here, his Mum Sarah shares their story.

Our journey really started at our 12 week scan. Up until it had been a fairly standard pregnancy. Nausea and exhaustion mixed with excitement and anticipation for our second baby. 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.

It was quite a strange meeting as even at that point we were offered a termination because of the Down Syndrome diagnosis. We were also given the option to pay for the nipt (non invasive prenatal testing), have a cvs/amnio or continue as normal. They explained that the test 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. I genuinely put Down Syndrome to the back of my mind and began taking a 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 my main worry.

I started feeling Zephy move at 16 weeks and it was such a relief and a comfort. We went to our 20 week scan excited to see the baby and we had decided to find out whether he was a boy or girl. This was the day that changed everything. 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).

*Hydrops fetalis (fetal hydrops) is a serious fetal condition defined as abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema. In some patients, it may also be associated with polyhydramnios and placental edema*

It’s a build up of fluid in more than two areas of the body. Zephys fluid was around his heart, lungs and brain. They told us he had a 0% 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 know 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 around 5 weeks we got the great news we had been hoping for and that the fluid had resolved itself to a normal level!

We were well looked after the rest of the pregnancy and whilst I developed gestational diabetes and obstetric cholestasis he went from strength to strength. He 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.

We have been very lucky 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. We have physiotherapy very regularly to help with that. We also do lots of speech and language therapy plus occupational therapy to work on speaking, 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 now 18 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. 80% of pregnancies where the baby has a trisomy will sadly end in the first trimester so to overcome that and the hydrops is a true miracle.

In the Uk, 9 out of 10 prenatal diagnosis of Down syndrome result in termination and you can terminate a baby with Down syndrome right up until 40 weeks/full term.

Well, I for one am honoured to meet Zephaniah and his incredible family.

Thankyou for coming, sharing your story and having your Family Portrait taken here at Dinky Days Photography in Essex.

Maternity – Newborn – Family – Cake Smash

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