Thank you for your post! I'm mostly in the app and it won't let me pm you could you please pm me?Hi Ally
A mum on another chat group directed me to your post here.
I have 4 children and my youngest daughter is 13 months old and has trisomy 18 or Edwards Syndrome but she has the mosaic form.
Our initial diagnosis came from our nuchal scan and blood test - the scan was perfect the nt thickness was 2cm which is great. She had a three vessel cord and nasal bone present. My blood work combined with my age gave a risk of 1 in 15 for Trisomy 18 (Edwards Syndrome). We had an amnio and our FISH results came back perfect! Ten days later our full result showed 8 out of the 15 cells cultured with the third copy of the 18th Chromosome. So a mosaic result.
To cut a long story short our daughter was born in November 2011 at 38 weeks due to IUGR and was 3lb 14oz (1.7kg) and perfect! Everyone assumed it was a placental mosaicism. We stayed in hospital for 2 weeks due to my high blood pressure and her small size and she came home at 1.780 kg.
At 6 months we had her blood tested and the result was 154 out of 200 cells showed the third copy of Chromosome 18 so 77% mosaic. She is perfect though still small (6.8 kg at 13 months old) and is sitting but not yet crawling. My son didnt walk til 18 months so I am not too worried! She breastfeeds and eats solids and sleeps well and is just gorgeous.
Please pm me if you would like to chat and I would suggest having a look at Soft USA (Trisomy.org), Trisomy Advocacy Group, Hope for Trisomy and Living with Trisomy 13 (this has info on t18). Plus there are heaps of groups on facebook both private and open - Trisomy Families, Hope for Trisomy, Soft USA, Soft Australia - heaps!
Please do not look at the Trisomy 18 Foundation website - that lady is not popular in the Trisomy community and really does not show a positive life with Edwards Syndrome I am sure that statistically the info may be correct but in the USA because of their health insurance and lack of medicare Trisomy 18 babies and children are denied life saving surgeries for heart conditions that are found in typically normal children who do get the surgery and often these babies are not given life saving procedures at birth such as oxygen etc.
Sending you lots of love and strength