What is Down's Syndrome?

The NHS describes Down's syndrome as the presence of an extra copy of the 21st chromosome in a developing babies cells. This starts when the egg or sperm is developing and accidentally takes two of the 21st chromosome. When it then joins to make a baby there are three of this chromosome instead of two.

However, most people are unaware that there are three different types of Down's syndrome;
1.     Mosaic Down's Syndrome
2.     Trisomy 21
3.     Translocation
And these different types affect in different ways.

Mosaic Down's Syndrome
Someone is diagnosed with mosaic Down's syndrome when not every cell has an extra 21st chromosome. This is considered the mildest form of Down's and some people have been know to not be diagnosed until adulthood due to lack of symptoms. Mosaic Down's usually shows as learning difficulties rather then physical or developmental difficulties.

Trisomy 21
Trisomy 21 is the most common form of Down's syndrome, also referred to as Standard Down's. Trisomy 21 is when every cell has an extra 21st chromosome. Affects of this type of Down's syndrome varies in person to person, with some having more physical and some having developmental while others can just show as learning difficulties again,

Translocation Down's syndrome is when every cell has an extra 21st chromosome however some chromosome material is re-arranged. Usually one of the 21st chromosomes is attached to another chromosome instead of being separate. This type is the only type that may have been passed from one of the parents meaning if you have one child with Translocation any children you may have is more then likely to have it.

Having a child with downs syndrome can sometimes feel like the end of the world when you first get the diagnosis. Its completely understandable. Personally we had decided that we didn’t want any kind of testing during pregnancy and so had what is called a ‘birth diagnosis’. For us we went into almost a mourning period. Not because we didn’t love Harry, I honestly think that we couldn’t have loved him more, but mourning for the child m told we thought we were having, and that is a  completely normal reaction to that kind of news. It’s okay to be upset about the diagnosis. Its okay to cry and scream. But I promise you, it gets better.

No comments:

Post a Comment

Where It All Started

Birth Story

Harry's birth story seemed like a fitting first post on here. Bear with me because it was written months ago. More posts to follow ever...