Finding out i have Angelman Syndrome

This post is by my mummy

When i was pregnant with Andrew i went for my first scan at 16 wks and had blood tests done 3 days later the hospital call me telling me to come in urgently they had my results back as i was ill i asked for the results over the phone thats when i was told my baby was 1 in 54% chance of being born with Down Syndrome,i was only 17 at the time so the result should have be 1 in 2500 but they were the results of a 40 years old woman as they are more at risk of downs babies,when i went to the hospital a couple of days later the dr said to me that the chance of my baby being a mongo (his words) were very high and that i should get rid of it (again his words),i said no way would i do that and weather he was disabled or perfectly healthy its my baby and im having it.

My pregnancy was a bit of a nightmare near the end with all the early labour starting and stopping then on the 8 of August 2002 my baby Andrew came into the world at 12.25pm born a healthy 7lb 13oz he was just the most perfect baby i had ever seen and it was then i was told he was perfect no Down Syndrome.

We go him home 2 days later where he was a happy baby never cried but did start to lose weight fast then at 8 weeks every thing changed Andrew had his first fit and had Reflux he was taking in to hospital and keep in for a week for tests,at the end of the week we were told the fit was caused by the reflux and the tempature he had and were givin Gavascon to add to his milk.

For the next couple of years Andrew kept being sick and having the fits we were in the hospital more than we were home but they just kept saying the same thing over and over again,then we started noticing he wasnt sitting at the right time and my mum had noticed the
back of his head being flat,then we noticed no crawling or words we were getting concerned so we were referred to the Acamore Center(for children needing assesed) where the doctor assessed Andrew and referred him to Yorkhill Sick Kids Hospital for Genetics testing,we waited about 2 months for the results which came back 1 week before his second birthday,where we were told it was Angelman Syndrome,cant really remember much about that time as it all seems a bit blurry with the shock.

Then came all the test and appointments with the hospital where every thing became a bit more clear and he started getting seen at the Acamore Center for physios OTs speech and educational therapists and a dr which he saw every month and at Yokrhill by eye drs ENT drs and epilepsy drs.

Now were 3 years down the line and my boys is just perfect hes still the perfect little baby i had just that he now has Angelman Syndrome and we wouldnt change him for the world dont get me wrong he can be a handful at times but hes my boy and iv been blessed to have him in my life hes taught us alot and iv growing up so much knowing i have this special little boy that needs alot of care and attention,and thats what hes going to get from all of the family.

We all love our little Angel Andrew with all our hearts xxxxxxx