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Meet Sophia who is three years old.  She was diagnosed with Trisomy 18 at four days old… and this is her story…

I had a normal pregnancy but was over due by 1 week and 1 day when they decided to induce. On the 16 November 2013, Sophia was born incredibly fast but incredibly blue, requiring oxygen and being rushed to the special baby unit.

When I went into see her, my heart dropped to see her surrounded by so many tubes and wires. This was not how it was supposed to be! I wanted to hold her and cuddle her, but this wasn't to be. The doctors came in and said they thought she might have Edwards’ Syndrome as she had a lot of the characteristics - low set ears and clenched fists - and that a genetics blood test would prove this. I was in shock and couldn’t leave her side, too scared to go in case something happened.

A number of tests were carried out the next day, and on the fourth day, a locum consultant had the results. He closed the door behind him as I sat there cuddling Sophia. He told us the news that I think we were expecting deep down; that she had Edwards’ Syndrome. He informed us that she would have around two to three weeks of life, and very bluntly told us that she would die in her sleep. These are not the words any new parent wants to hear.

We were told to get her home as soon as possible. As I was sat there cuddling my baby trying to digest all the information I was being told, all I wanted to do was run and hide.

Sophia had been fitted with an NG tube, so we waited for milk supplies and equipment before we could go home. The next day, we packed up and left the white, clinical place we had called home for seven days.

My precious baby was going home to die. I was told to make the most of every minute with her.

At home, my community team were very supportive. I slept downstairs on the sofa right next to Sophia, scared that she would die alone. Day by day, she got stronger. 

We had an appointment at the hospital to write Sophia’s advanced care plan. The consultant we saw was not on our side at all! I screamed and cried to get my baby girl treated as a baby and not a diagnosis, but he was all doom and gloom. From that day, I swore that Sophia wouldn’t see him again. I contacted PALS and asked for an appointment with the Chief Executive of the hospital, and the following week, stepped into an office filled with men in suits, including Sophia’s consultant. I held my own – I told them what I wanted. That I knew what all the negatives were but that I wanted to focus on the positives. Three months later, she was still here, thriving!

Following the meeting, Sophia was discharged from the care of our original consultant. This was fine with me, and at this point, everything started to come together – accessing services and medical staff involved. Sophia went from strength to strength.

She is a remarkable little girl with a love for life like no other. Although she still has the NG tube in for fluids, she loves to eat and rather enjoys her pureed food! She can walk if you hold her hands and sit unaided - all these things the doctors said she won't do! Sophia had a PDA repair at Birmingham Children’s in 2015 and recovered no differently compared to a non-trisomy child.

She started nursery last September and they just adore her there. She can say mum and dad in baby babble and they call these children incompatible with life!

Sophia is currently 3 1/2 years and the light of my family’s life - a miracle baby by any means and a message to other parents;

Sometimes you have to fight to get what your baby deserves, but boy is it worth the fight!.

Annette Martinez, Sophia’s Mummy
March 2017

Created: 04/03/2019 15:12

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