Sophie

So much has happened since our last update in 2017 with our story. So I thought it was time for another update.

Sophie has full Trisomy 13 and is going to be a big 7 in May. We didn’t have a prenatal diagnosis before Sophie was born and genetics informed us (twice tested) it was indeed full Trisomy 13. The last 7 years have been a rollercoaster to say the least.

A quick recap:
Sophie came home from hospital after a few weeks and was under hospice care. She started taking milk from a bottle and stopped using the NG tube. This continued for a good few years. During this time Sophie kept generally well, although she had problems with severe reflux and epilepsy.

The reflux would mean that Sophie would take a bottle and have to be held upright for at least 45 mins each time after a feed. It was proving increasingly difficult as Sophie would only take small amounts every two hours. Also, she didn’t like getting weaned. The epilepsy got worse and resulted in seizures: she would stop breathing and have to be given rescue breaths. This occurred over a space of a few months, and it seemed as though the increase and delicate mix of epilepsy medication stopped this happening. Sophie has been free of these seizures since October 2020. She still has the odd cyclonic [jess]?? and small seizures from time to time. Generally, these are at times when Sophie has urinary tract infections (UTI) or is unwell. She suffers from frequent UTI infections. Sophie got a corflo peg fitted last summer (Summer 2021) and is looking to start on a blended diet, hopefully the ketogenic diet!

Sophie is a diva and will quickly tell you in her own way when she doesn’t like something. Although she is non-verbal, she can shout her odds and express her feelings openly. Her favourite pastime is playing in her playpen at home with sensory toys. Optic lights and sound toys are the best. She is also very keen to listen to her iPad. She only will listen to nursery rhymes and only certain ones. She does not like “Wheels on the bus” and if she knows a song is due to finish and the next one is “Wheels on the bus”, she will express her dismay with lots of moaning. She knows what’s coming!

After a lot of organisation (2-to-1 transport assistants for taxi) and plans, Sophie eventually started in P2 at primary school in August last year. She only did 1 week of P1 the year before being hospitalised due to aspirational pneumonia and then Covid-19 arrived. She enjoys going to school and Mummy is lost without her. She has experiences that I wouldn’t allow her to do (as I’m too scared): she has painted, played with playdoh and interacted with her peers.
Sophie has only had one admission to hospital for aspirational pneumonia and one admission for her peg to be fitted, for which I am very thankful.

More than anything, Sophie enjoys close contact from family. She loves getting cuddles and enjoys people speaking and singing to her. Sophie has an older brother, Jamie, who is 9 years and an older sister, Mia, who is 12. Sophie is one of the strongest and happiest kids I know. She has taught me so much more than I can ever teach her and has made me a far better person for it.

I look forward to the easing of the restrictions, so that we can meet our Trisomy family again at the next SOFT conference.

So much has happened since I last updated everyone at the Scottish Family Day in 2017, so I thought it was time for an update.

Sophie has Full Trisomy 13 and is going to be a big FOUR in May.

Sophie has just started nursery school in the last few weeks.  She is sitting now independently for a good while and crawling! 

Sophie keeps relatively well.  She has only been admitted to hospital twice so far, for pneumonia. She is still feeding every 2.5 hours and suffers a bit with reflux.

Sophie is starting to communicate by coughing.  Mostly if she doesn’t like something, like Old MacDonald and his silly farm! Other nursery rhymes are good though.  She especially likes hanging out with her brother and sister, Jamie who is 6 and Mia 9.

Sophie is one of the happiest kids I know. She’s got her order in with Santa for a Firefly Scoot and YouTube subscription, so she doesn’t have to wait for the adverts on the telly!

We look forward to seeing everyone again in September!

 Libby & family