Our Diagnosis

THIS WHAT OUR BABIES HEART LOOKED LIKE:

As you can see from this diagram our babies heart looked very different from a healthy heart. She had several problems:

• Dextrocardia – her heart is positioned to right instead of the left
• VSD
• Double outlet right ventricle
• Transposed great arteries
• A right Aortic arch
• Coarctation of the Aorta
• A smaller than normal left ventricle (not quite HLHS as it is growing)

When we received this diagnosis at 20 weeks we were looking at her needing 3 surgeries before the age of 5.

On top of this she was diagnosed with ‘Eventration of the diaphragm’  and Trisomy 18 (Edwards Syndrome).  It is the second most common syndrome in the Uk next to Downs and varies in severity. It is due to an extra 18th chromosome in each cell.

Trisomy 18 occurs in about 1:3000 live births. Unlike Down syndrome, Trisomy 18 is usually fatal, with most of the babies dying before birth and those who do make it to birth typically living only a few days. However, a small number of babies (<10%) live at least one year.Most trisomies (about 95%) are full trisomies. That is, the extra chromosome occurs in every cell in the baby’s body. This type of trisomy is not hereditary, and is not due to anything the parents did or did not do, and it is by far the most common type. In most literature, Trisomy 18 means full Trisomy 18.

Charities that have further info on this condition and that have also been VERY helpful to us and supportive are Emilys Star and Soft uk check out their websites to learn more and read others stories/ research.

As you can imagine, no parent wants to hear that the quality of their child’s life is impaired and that there’s a chance they may not live very long. It was such hard news to receive and digest. Whilst we wanted to ignore the diagnosis of “not compatible with life” and fought hard for her care (which we eventually got) Poppy Quinn Smith passed away 2 days before my dues date and was born sleeping.