Losing a baby is an experience that leaves you forever changed. Till a few years ago, I had never heard of the word "Trisomy". I was aware of Down's Syndrome, which is incidentally Trisomy 21, but I had no idea about the variety of chromosomal abnormalities that exist. I have chosen to focus specifically on Trisomy 18 (Edward's Syndrome) in this blog, as I have personally been touched by it.
Edward's Syndrome is a rare, but severe genetic disorder, that is caused by an error in cell division at the embryo stage, resulting in three copies of chromosome 18 instead of a normal pair. The most severe form of the disorder, full trisomy, occurs when every cell in the body is affected. A less severe form, called the mosaic form, occurs when only some cells have the additional chromosome. Many parts of the body are affected. Babies are often born small, have heart and/or kidney defects, hand abnormalities, malformed and low-set ears, feeding and breathing difficulties and severe intellectual disability. Tragically, most babies with this syndrome will die before or shortly after being born.
Trisomy 18 occurs sporadically when, for unknown reasons, chromosomes fail to separate properly. The chances of conceiving a child with Trisomy 18 does increase with maternal age. There is unfortunately no cure, and the treatment is mainly concentrated on supportive care. 50% of the children with the most severe form of Trisomy 18 have an average lifespan of fewer than two months. 90-95% die before their first birthday.
For many, the thrill of expecting a baby should be a time of great preparation and joy. Only those who have been through the experience of receiving the devastating news that their little one has Trisomy 18 will understand the incredible sadness and the unending questions that follow. The fact that so few answers are available only compounds the situation. No one can answer whether you will carry to full-term, how long the baby will survive if born, the extent of possible suffering and if you decide to go beyond compassionate care, you will most likely be in a position of having to find medical experts who are willing to take a more proactive approach.
A few babies diagnosed with Trisomy 18 reach childhood or even adulthood. There are significant additional challenges that families in this situation face. In South Africa, I have struggled to find where adequate support is available and hence it a service I have decided to add to my own practise. I fear many couples suffer in silence, not having the necessary space and support to grieve, ask questions and hear from someone else who has been in a similar situation. It is an area that I hope to be able to offer even more comprehensive support going forward. I would highly recommend that any couple facing this diagnosis, seek out genetic counselling. This is not counselling in the traditional sense of the word, but a professional who is trained in explaining the genetics behind Trisomy, the risk of reoccurrence and so forth. I would then also highly suggest seeking out a professional counsellor, who has some experience in this field, to provide support with the grieving process.
During March 2023, may we all remember the precious lives touched by Trisomy as we raise awareness and find ways to better support families who find themselves in an often impossible situation. From the stories I have read, these babies are very much loved and wanted despite the limiting diagnosis. To everyone, who has lost a precious baby to Trisomy, allow yourself the space to grieve and my heart goes out to every one of you. There is a beautiful song "Perfect Way to Start", about losing a baby, and it has the lyrics "your first steps were on Holy Ground".
Picture courtesy of Shannon Pitter
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