Enfys & 22q11.2 Deletion Syndrome

Enfys & 22q11.2 Deletion Syndrome

16 months ago we were an ecstatic family because Enfys came home.  Enfys was 6 months old and had spent the previous 3 months in Noah’s Ark Children’s Hospital for Wales. 

Those 3 months were a nightmare.  With 3 children at home, Birthdays and Christmas to get through, surgery 2 days before Christmas day, I spent most of my time living on the hoof. 

Enfys’ VSD was successfully patched on 23rd December 2015 and she is now on annual check ups.  She will always be a lifetime member of the zipper club.

On the 12th January 2016, we were given her diagnosis of 22q11.2 Deletion Syndrome, or DiGeorge Syndrome.  It’s the 2nd most common chromosome abnormality after Downs Syndrome but there’s so little awareness of it.  Since that day we’ve been very aware of it.

DiGeorge Syndrome affects things you never give a second thought to (Thymus Gland anyone?).  I’ve written a brief introduction to 22q in the past.

Enfys is now 22 months old, and is a bundle of fun.  She can be a pain in the backside but it’s a joy to see how far she has come.

Her immune system appears to have improved somewhat… she hasn’t had a serious illness since the winter and even then it was a bronchiolitis type infection.

Her movement has improved; she is crawling and cruising around the furniture but has yet to walk.  Physio are debating whether or not to give her a walking frame in an effort to get her on her feet and give her the confidence to do it. 

Enfys does have hypermobility and has exceptionally relaxed ankles. She wears rather pretty orthotic boots (and a pair that I’ve bought her myself) but doesn’t really like them on too much. 

She eats most things and is no longer dairy free which is much easier for me.  Her favourite foods are those with a lot of flavor, including lasagna and curry. 

She has been discharged from the swallowing side of Speech & Language with a declaration of how hard I’ve worked with her… It’s all been Enfys as far as I’m concerned… with 3 other children to look after I have a habit of just plonking her food in front of her and letting her carry on.

Portage visits every 4 weeks and I’ve developed quite a friendship with the lady who comes… She’s lovely and the type of person I would choose as a friend.  Enfys loves her as does Macsen.  We’re currently reviewing the skills Enfys has learned in the last 12 months to see if her delay has improved. 

Enfys is coping well with having Anwen around, although there are times when she shows her jealousy in a round about way… often by sitting on Anwen while I’m feeding her.

I’m so proud of Enfys and her journey. Our lives would be so quiet without her…  She a beautiful little girl inside and out.