Layla’s problems started when I had my 20 week scan. She was found to have a condition called Fetal Hydrops which meant her chest and abdomen was filled with fluid which was crushing her heart and lungs. Her nuchal fold was also much thicker than normal at 9mm. We were referred to John Radcliffe and to an amazing consultant who drained away the fluid with a big needle. This meant her heart and lungs could reinflate and she had a much better chance of survival. The fluid had to be drained again 2 weeks later and I also needed to have over 2 ltrs of amniotic fluid drained a few weeks after that. The amniocentesis didn’t give us any clues to what was going on and so she was born by planned section at 39 weeks and whisked straight off to special care. She stayed there for a week and was tested for everything you can think of but no diagnoses was made other than noting she had several “dsymorphic” features.
At 4 months, we saw a geneticist who immediately diagnosed her with Kabuki syndrome which was later confirmed with a blood test. Due to this syndrome she has very low muscle tone and is Hypermobile so she didn’t walk till just before she was 2. She also has a general developmental delay of around 1.5-2 years and her speech still remains unclear to those who don’t know her well. We see many specialists to help her including, Paediatricians, physio, SALT, Orthotics, orthopaedics, ENT, opthamology, endocrinology etc. She has just started mainstream school this September with the help of an EHCP and 1-1 and she is making friends and learning so much more than I expected! Sadly she has had to have a lot of time off this term due to her Cholesteatoma finally being diagnosed after years of infections and more antibiotics than I can count! She has just had 2 surgeries to resolve the Cholesteatoma and this should hopefully not return now. She may also be having another surgery in 2018 to fix her squint which is getting steadily worse.
Throughout all of this though Layla has become the most amazing, beautiful, happy girl and I could not be more proud that she’s my daughter. Everyone who meets her loves her instantly and she’s doing so do well despite her struggles.