No Known Cases

Aug 24, 2015 | Cystic Hygroma, Induction/L&D, Stories

There was no living child who had these missing genes and no documented cases the same as ours.

By H.

My husband and I are currently waiting to have our termination in another three days. I am will be 18 weeks pregnant when I have the procedure.

At our 12-week scan we learned that our baby had a cystic hygroma which could indicate a heart defect, a chromosomal abnormality or an inherited genetic disorder. A few days later we had a specialised scan to diagnose the problem. The technician was unable to confirm anything. What they could see looked fine in regards to heart, size of baby, etc. They offered us a termination at this point, but said there was still a 5-10% chance the baby could be born completely normal. Based on this, we were not willing to consider ending the pregnancy.

For peace of mind, we were offered the CVS test. I have had awful medical procedures in the past but the sensation when the needle was plunged into my stomach was unexpected even with a local anaesthetic.

The next day we received the preliminary FISH results which ruled out Down syndrome, Turner Syndrome and a few other syndromes I cannot spell or pronounce. We had to wait through two agonising weeks for further test results on all kinds of problems. Our midwife called and confirmed that the baby was missing part of chromosome 7, which naturally meant nothing to us. Unfortunately the midwife didn’t have any further information.

A couple of days later we met with a consultant and a genetic counselor to discuss what a partial deletion on chromosome 7 actually meant. We were stunned to learn that there was no living child who had these missing genes from chromosome 7. Because most women would have miscarried earlier in the pregnancy, there were no documented cases the same as ours. Out of the 130 genes our baby was missing, the consultant knew only of one case of a child who was missing only one of those, and had severe mental and physical disabilities.

The consultant couldn’t confirm a specific syndrome or diagnosis, but given that our baby had not just 1 but 130 genes missing there was no chance of the baby having any quality of life, and that was if the pregnancy reached full term.

My husband and I had previously discussed the different options and decided by the end of this appointment that we were going to end the pregnancy due to the quality of life issue and also because I was terrified of miscarrying late in the pregnancy or having a stillbirth.

As this was our first pregnancy I had many different emotions and misgivings over the next couple of days. Immediately after asking my midwife to book the termination I felt relief that all the horror from the last month would be over. But the next day I felt strongly that we might have a miracle baby and this was the wrong decision. This was quickly followed by confirmation of dates and times for the termination. The midwife again reassured us there was no chance the baby would have a decent quality of life, and I was able to proceed past the denial part of the bereavement process and move onto sadness mixed with slight acceptance.

This weekend I have allowed myself to feel hysterical and sob until my sides hurt. I am beginning to feel ready for the physical and emotional aspects of the termination.

This website has helped me immensely. I had no idea of the scale of options open to us after the termination such as seeing and holding the baby, the hand prints and possible funeral arrangements. I have reached the decision that whilst it will be hard to see the baby and hold it now, I will eventually gravely regret it if I don’t.

I am finding it difficult that we don’t have a definitive diagnosis. We have been tested to see if the problem is a random event or a hereditary disorder. If we are carriers for a disorder, we may be able to have some kind of gene therapy next time. If we’re not carriers, then our chances of having a healthy baby next time are the same as anybody else. Either way, knowing this has brought us a lot of comfort.

All of the above coupled with my previous thyroid cancer diagnosis at age 17, clear for seven years, ovarian cysts, and a hole in heart repaired at six months has made it difficult for me to accept that what happened to the baby wasn’t my fault. I suspect the state of my body was to blam , and even though I know this isn’t the case it is hard to shake the idea.

My husband has been incredible throughout this whole time keeping me grounded when my expectations were completely wrong and yet not being too pessimistic before we saw the doctors. The hardest thing for me is believing there is anything wrong with my baby who in the scans I saw jumping around all over the place and had a strong heartbeat. I still cannot put together the picture of the mental and physical disabilities this baby has with the active baby in the scans. It is almost as if my brain refuses to believe they are one and the same. This has made the decision harder as there is that slight awful window of hope where I start to think maybe they were wrong with all of our tests. But of course I still need to remain grounded in reality.

My main piece of consolation is that hopefully we can try again  and now know that we will go through anything to have to have a baby.

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