Sophie came into the world as a very, very quiet baby, she was tiny. At 3 days old we noticed a small hole at the small of Sophie's back, Hospital never picked up on it. The public health nurse arrived for her visit, we mentioned it to her only to be told don't worry about it.... Off to our own GP we went who sent us into Holles St to be checked; he looked as worried as us. Sophie had what was called a Sacral Dimple, in time it would close. We were relieved but still scared at the same time.

 

The very same week during a feed Sophie began to choke and brought feed down through her nose, she would go rigid and hold her breath again this caused us huge concern; off again to the Hospital only to be told it's Reflux? Nope this ain't no normal Reflux, our Baby is choking during feeds, anyway they told us she would grow out of it by the time she could sit up, so for 6 months we had a baby who was still bringing feeds down her nose, night time was awful, what if it happened during her sleep..... It did eventually stop by 7 months but when she was sick vomit would still come down her nose, this was not normal.

 

Sophie never hit any of her baby millstones, everything was delayed, babbling, crawling, walking, playing etc, at this point alarm bells went off, well actually even before.

 

On visits to the clinic and our GP I raised my concerns, only to be told let's see how she gets on or come back in another few weeks, a story we were only to familiar with.

 

Roll on Sophie at the age of 2, she had next to no words, she was unintelligible to any one outside of our family, she was trying her best to speak but it would just not come out.

 

Eventually after banging many doors down, at the age of 3.5 and many, many Hospital visits we found out Sophie had a sub mucous palate... This was the reason she never fed proper as a baby and why she was unable to speak.

 

Sophie needed an operation to fix this, again huge waiting list etc, she had her first operation in 2013, hand on heart I knew it didn't work, I said it from the very start, again our hospital visits started and we found out the first operation was unsuccessful, and Sophie needed a second operation. She had this done in 2014 and my god she's like a different child.

 

Ok so we had her speech sorted etc but there was still a few things that caused us concern. During one of our many, many appointments I again raised my concerns about Sophie, small little things like certain fears and meltdowns (not in a bold way) had our hearts broke, she was so, so anxious. Eventually her Paediatrician said he was going to do a genetic test, Sophie had a lot of symptoms for 22Q Deletion, 22Q what we asked... We'd never heard of this before.

 

After a 3 month wait and many sleepless nights Sophie's test came back positive, we were shocked, angry, sad, hurt every emotion possible. We then had to all have the test. It came back negative which meant Sophie was the first in our family for this genetic disorder.

 

Every organ in Sophie's body would now need to be tested; we were absolutely heartbroken beyond words. Thankfully all her major organs are fine, but the wait in between appointments was horrific.

 

Sophie will always have 22Q and our journey with her will be on going for life. 22Q affects people in many different ways. There are many Doctors who still have no idea of this syndrome, we as her parents now know more than the professionals.

 

This is down to our 22Q support group who have been our rock. It's a voluntary charity and without Anne Lawlor we would be lost.

 

If you have read this far Thank you so, so much, all we ask is that if there's one charity you donate to this year let it be 22Q Ireland and give their Facebook page a like.

 

Our lil Sophie is now doing fab; she's such a fighter and such a happy lil girl. We are truly blessed. Our journey with 22Q will be never ending however as a family we don't let it stop us living a normal life. 22Q Deletion give it a Google and share the awareness. Xx

 

 

SAM AND SOPHIE'S STORY

Call us: Anne @ 087 7412856

Registration No. CHY17647

Ireland's National charity for children and adults diagnosed with 22q11.2 Deletion Syndrome. DiGeorge Syndrome and VCFS.

© 2017 by 22q11 Ireland 

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