We finally have answers for Kayleigh-May who it seems is a truely unique little girl the genetics team after doing micro-array testing on her blood have discovered she has a chromosome deletion!
Her deletion is 3q26.33 a 3q deletion is rare in itself but what makes Kayleigh-May even more unique is she is the only person in the world on record with this exact deletion there is a few close and around hers but no exact match so basically genetics cant tell us what to expect etc and she will be watched over the years and monitored progress wise.
She finally started walking at 23months old it was amazing she just suddenly stood up in our kitchen and walked!! She is still clumsy, cant climb stairs, walk outside etc but is very active in and around the house she is a amazing little girl who yep still smiles constantly.
In September she had quite a big operation it was decided she needed her tonsils and adenoids out to try to stop her sleep apnea, she also needs grommits fitted as her ears kept perforating and were full off glue, they also changed her peg feeding tube to a mini button which is so much neater. She was home the next day after the op and it all went well.
Since her op she has amazed us all again by started to talk!! Her tonsils were huge the surgeon said and it seems they were causing her lack of speech she is now saying single words, trying to string two words together and copying words you say to her she has such a cute sweet voice :)
Since Kayleigh-May went on overnight milk feeds in January her weight gain has been amazing she has gained 4 lb's in weight and looks the picture of health from it. Sadly her feeding during day time is terrible she has no milk feeds during the day but hardly eats anything she still cant tolerate lumpy foods her diet mainly consists of toast, bananas, bread and butter and satsuma's she refuses pureed foods 90% of the time and just doesnt seem to want to eat.
She has even had her overnight feeds stopped for couple of weeks to see if that helped get her eating but it didnt and her weight dropped so she is back on them this is a long term problem that will take lot of time and patience to fix I think.
She also recently went through growth hormone deficiency testing which we are awaiting results for. It they come back she has it which is suspected she has as she isnt growing much at all currently 76cm's at 2yrs 5mths then when she is 4yrs old she will start treatment like Lewis is on so poor Lee will have to inject two of our children every night so they can grow.