Our Story

We have been on a long journey for Cerys’ diagnosis and to see the other heart-warming images of children with MED13L, who resemble Cerys so much, prompted us to log her story. We first realised at her 12 month baby check that she was delayed. However we were also worried about things beforehand as she was very quiet; always had her tongue out – we were told to flick her tongue by a well-intentioned nurse at one point; needless to say it didn’t work! -; drooled incessantly and was very stiff in the arms! She also had a lot of eye infections and colds which seemed to knock her for six. So even though we had some niggling worries, we were still knocked for six when it was confirmed: she is ‘delayed’. She walked at 26 months, which coincided with her first prescription of glasses, prior to this she walked everywhere on her knees which looked very strange but was certainly effective for getting about! She had a very long journey of paediatrician appointments followed by neurology (MRI scans), who told us she would never speak!. Then she was referred to the Geneticists (blood tests). All the while taking Cerys to speech and language visits (feeding – she doesn’t chew her food easily – as well as for speech), physio assessments, orthotics etc.

I remember the first time I heard the phrase ‘dysmorphic’ and was insulted! Our beautiful daughter looks different? We took part in the Deciphering Development Disorders in the UK in 2011 and the 100,000 Genomes project in 2015 really expecting her to remain undiagnosed. We had become jaded about ever finding out the cause for the development delay but to our surprised it was confirmed this month. It is difficult to describe how we felt on finding out about MED13L – I have searched the internet many times for genetic conditions with speech and language delays and an enlarged tongue with no joy! What do I know? Cerys is soon to be 12. She attends a special secondary school in England and is very happy there. She can speak – we had private speech and language therapy for a few years as well as NHS support – and this has helped her speech to become clearer over time and she can speak to others who now understand her – she was unintelligible for many years. She has more difficulties with her motor co-ordination and is fearful of heights and any uneven surface, which seems to be getting worse and so her weight has crept up over the years as she refuses to do more and more like ride a bike.

She’s a whizz on a computer and loves Minecraft. She is also obsessed with post-it notes and is never happier than when she is making notes on post-its about Minecraft or the Haschak Sisters. She is a very, very affectionate girl, with no sense of her own strength, giving regular headlock cuddles. Having read a few other bios of children with MED13L, we have now realized her light sensitivity may be part of the syndrome and she has a very high pain threshold (when she was getting her permanent teeth and has a wobbly baby tooth, she would just pull it out).