News & Events

Lila

Last Reviewed 18/06/2018

By Jessica Jackson

Lila is the youngest of our three girls and definitely the most full of mischief and fun! Lila is nearly four and has a partial duplication on her second chromosome (2q22.1q22.3) and we haven't found another child in the UK with the same chromosome disorder yet.

She was diagnosed with a unilateral profound hearing impairment at birth and as a result underwent genetic testing which highlighted her disorder. She was originally termed as having global developmental delay, but this diagnosis has recently changed to ‘learning disability’.

She is currently assessed as being around two to two and a half years old in all areas of development, although she has brilliant social skills for that age. 

She is a bright, bubbly, determined little girl and everyone who meets her loves her. We get amazing support from her Specialist Disability Health Visitor and nursery, where she has one-to-one support, and we're just starting the process of applying for an Education, Health and Care Plan. We want the absolute best for Lila, same as any parent, and choosing the right school and getting good support for her is so important.

It can be overwhelming sometimes so we try not to look too far into the future; there's so much that is unknown, so we think in stages.

This stage is choosing a good primary school, and then we'll be concentrating on making sure she settles there. We find that this is easier than worrying about what will happen in later years. We also focus on the good bits; Lila sleeps well, eats well, and is such a happy little girl.  

With all the forms you have to complete as a parent of a disabled child, and the endless assessments and referrals, you are repeatedly required to focus on the things your child can't do or struggles with – your worst days with them. That is important when getting the right support in place, but the rest of the time we try and focus on the positives and the good days. We're lucky that those outweigh the bad, for now. Hopefully it will stay that way!

WOULD YOU LIKE TO SHARE YOUR STORY AND HELP RAISE AWARENESS OF UNDIAGNOSED GENETIC CONDITIONS?

EMAIL: INFO@UNDIAGNOSED.ORG.UK.

 

 

 

 

 

 

 

 

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