Our Family

Our Family

Thursday, 9 May 2013

A Positive place for newly diagnosed parents of any special needs.

My First pregnancy was unremarkable. Aside from the fact it took us 18 months to conceive and as we were trying found out at around three weeks into the pregnancy that i was expecting. I had the usual sickness, strains and pains associated with pregnancy. My labour was uncomplicated and my Son was born healthy and happy. A fact I dont think I fully appreciated at the time. I love my son, he is a wonderful easy going little boy who loves his Daddy and I do feel slightly guilty for turning his world on its head so very quickly.

Tylers first picture

8 months after he was born we discovered pregnancy number 2 already into its 11th week. Amidst all the 'wow what a small age gap, was it planned?' rudeness we marvelled at how lucky we were to have skipped the early weeks. That this pregnancy would fly in quickly as we were already a third of the way through. A week later we had our first scan. This included a nuchal fold measurement and a blood test to assess our risk for Downs Syndrome. (We had only had the blood test with my son just a year previous and were low risk so were expecting the same again). We were shocked to then be told our risk was high for Downs at a ratio of 1:144. The measurement itself was the very top of the 'normal' range at 3mm, and this combined with other factors like my age etc gave us our final result. And so our journey began.

I declined amnio testing at this time as we knew no matter what we would continue with the pregnancy and did not want to risk a miscarriage as the odds of miscarrying were higher than the chance of Downs. At our next scan at 20 weeks our technician was very thourough in checking every aspect of our baby due to the already high risk. For this I will always be grateful. The technician after confirming with another doctor told us that our childs heart was not developing normally. It was showing potentially a Coarctation of the Aorta as well as a significant difference in size between each side of the heart. I say potentially as at this time babys heart is only around the size of your thumbnail so it is very difficult to be exact. We were told often this condition is missed prenatally or misdiagnosed. We were given another apoointment with a Cardiologist to confirm their suspicions a week later and as they were so desperate to give us some good news we allowed them to tell us the sex even though we hadnt wanted to know but had said we were hoping for a girl. Both agreed Baby was a girl and so this gave us some light to cling to during all the worry.

A week later our cardiologist confirmed the potential diagnosis. We were asked again to consider an amnio and again refused for the same reasons as before. We were told baby may need surgery at birth and would be monitored during the rest of the pregnancy with extra scans as if her condition was serious enough we may be transferred to Glasgow for delivery so she could be treated at Yorkhill straight after birth.

At our next scan they discovered Baby had enlarged ventricles in her head (98%ile so the very top end of 'normal')  as well as excess fluid (polyhydroamnios) surrounding her. Two more soft markers for Downs Syndrome. At this point with so many soft markers My husband and I had begun to accept our daughter was going to have Downs and so at 32 weeks we finally opted to have the amnio so we could know and prepare for certain.

The results came back clear. Our baby DID NOT have Downs or any of the other commonly tested for conditions. It appeared that her heart condition was actually our only major issue.

A month later I was diagnosed with Gestational diabetes. I was told I would be induced at 39 weeks as this can cause very large babies upwards of 10lbs. They had decided at this point that the coarctation while still present was not severe enough to mean I had to deliver in Glasgow (phew).

At 38 1/2 weeks, on the morning of 4/9/12 I got up to go to my final scan and noticed a familiar nagging pain in my back. I had my scan at which they diagnosed an AtrioVenticular Septal Defect (AVSD) or hole in the heart as well as the coarctation which had continued to be present. I had to wait a long time in the hospital midwife clinic as it was very busy that day. During the long wait I knew i was in labour. So whilst trying to not freak out the other pregnant ladies i quietly laboured in the waiting room and got my son to nap so i could get the midwife to examine me properly. They confirmed I was in labour but not far enough along to stay in yet which i knew. So we went home, hoping it would ease off as the sitter for my son was all booked up for the induction a few days later.

As soon as we were home, around 2pm I got a phonecall from the hospital asking me to come back. Labour suite was empty and all the professionals who wanted to be present for Baby's birth due to her issues were all available right then. They wanted to break my waters due to the polyhydroamnios. So it was a mad dash sorting out a sitter for My son then back to hospital. Baby Robyn was born at 7.31pm weighing 6lbs 11ozs. (where was the rest of my mega big baby?)

The five highlighted issues were to prove of great significance several months later when Robyns diagnosis was fianlly made.