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
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.

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 every Monday and Friday!! Leave us a comment to let us know what you think of the website!
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It was finally happening. The moment I had been waiting for almost nine months. I was finally in labour.
The thoughts that run through my head as I settled into my delivery suite ready to bring my son into the world were not full of fear or nerves but pure anticipation. I couldn't wait to meet him and after six days of pre-labour with painful contractions and no sleep I was eager to get this baby out of me! Sam, bless his heart, had been with me every second of those six painful and exhausting days and was just as excited as I was for it all to be over.
My labour, once in what they call 'active labour' lasted just under ten hours, however I was extremely lucky in the fact that I was only pushing for a mere twenty nine minutes before he made his appearance, We knew we were having a little boy and had already agreed on the name Harry Alexander David for him. Harry for Sam's granddad, David for mine and Alexander because it tied his names together perfectly.
After my extremely quick delivery I had been expecting to have my skin to skin contact with our little boy, but unfortunately this was not to be. Our baby had been born with difficulty breathing and was rushed into NICU (neonatal intensive care unit) straight away. Sam was lucky enough to see him and a kind nurse took some pictures for us to send to family and friends. I didn't see my son for another two hours, once I was all fixed up.


That first night is a blur to me now. Its that next morning that I remember most. Waking up for the first time in nine months not pregnant and also not having my beautiful boy there was the hardest thing I had every had do live through, I cried for hours until Sam came back to see us. When I saw Harry he was covered in tubes and wires and looked so fragile I could barely touch him for fear of breaking him even more. It's safe to say I blamed myself for what was happening to him and in some respects I guess I still do.
I spent the first week of Harry's life on the transitional care ward in the hospital, which drove me crazy as I had never spent time in hospital before and as far as I was concerned there was absolutely nothing wrong with me, labour had been easy and I was recovering well. The only upside was I was literally seconds away from Harry and could visit at anytime. During that week I was often found walking between my room and Harry at all times of the day and night. I just couldn't bear to be away from him. 
It was on Harry's first morning we got an update on his condition, and some shocking news, Suspected downs syndrome. We had known it was a possibility of course as it is with every pregnancy but we never thought it would actually happen to us. I had done everything right in my pregnancy, giving up smoking as soon as I found out, not touching a drop of alcohol, even avoiding certain foods like the plague. These were the thoughts running through my mind as I heard those words, I just couldn't grasp that none of that mattered. They took blood for genetic testing to confirm their suspicions and waiting for those results were the most confusing days of my life. It took me some time to process the information as I was more concerned about Harry's breathing as he was still hooked up to oxygen and struggling on his own. When I finally realised what was happening I had just one thought on my mind... Why us? 
It took me a long time to stop blaming myself, and the truth of it is there is nothing you can do to prevent a genetic syndrome. It just happens.

Have You Read...?

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...