Too Many Chromosomes Spoil the Broth; by Faye Price

This can certainly be the case for a minority of unborn babies. Whilst many of our womb bound children are tucked away fully formed, developing that much – loved ability to scream and bawl, unbeknownst to us, some will form a cry that is too weak to be heard. 

This is a typical symptom of Edwards Syndrome, also known as Trisomy 18. An additional copy of chromosome 18 in some or all cells in their bodies is the initial cause of this disease, which prompts many babies to be either miscarried or stillborn. If a suffering child is successfully brought into the world, they are then compelled to live with severe physical and mental disabilities. Common examples include bone abnormalities, such as curved spines, a low initial birthweight as well as heart and kidney problems. Some infants are even born with a hole in their hearts. 

The same can be said for the parents of sufferers, who can often respond with feelings of guilt, fear or blame when a genetic disorder manifests itself within a family. Without help and support, they can indeed experience a feeling of sharing their child’s hole in their hearts. 

Chances of survival are also bleak at best for sufferers. Out of the children who are successfully born, 50% of them will die within a two week period, with only 1 in 5 surviving beyond three months, and 1 in 12 surviving beyond a year. In terms of the severity of the illness, only 5% of children with Edward’s Syndrome possess the moderate form of the disease, whereas in contrast a shocking 94% have extra chromosomes in the majority of their body cells. 

With such miserable prospects, it can certainly be said that for sufferers, the odds are not in their favour. 

However, a spark of hope does reside at the end of a somewhat gloomy tunnel. In some cases, the children can exceed all expectations and really live life to the full, despite the ever-present odds stacked against them. One child was able to reach their 21st Birthday, a miraculous attainment. 

One couple residing in the USA can also provide the world with an example. And all because of their resilient daughter, Bella. 

En days following her birth, Rick and Karen Santorum brought their daughter home, having been informed her death was imminent. This angered Mr Santorum, who said, “Karen and I were not just going to let Bella go.” Their refusal to give up on their daughter gave them the strength to push Bella on to reach the age of seven, an amazing age for any Trisomy 18 child. 

Many parents, understandably, choose to abort children with Edward’s Syndrome because of an arguable limit to their quality of life. For those who don’t, there are numerous organisations that can aid their individual journeys with their children. One of the most common is SOFT UK, a charity that provides support from diagnosis to the duration of a sufferer’s life. 

Edwards’ Syndrome, though rare, is not merely a myth to which you should shut your ears. Real families feel the loss of a child to the disorder every day, whilst others are compelled to struggle on alone, unnoticed, with a suffering infant. Show your support for those individuals by donating to the Trisomy 18 Foundation, or help a friend with a connection to Edward’s Syndrome. The more awareness we raise, the more we can work towards helping sufferers to live a happy life, no matter how long that life may be. 

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This article is for informational purposes only. It is not intended as a substitute for the advice of your GP. If you have further concerns please contact your specialist for further and more in depth details. 

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