Chromosome 8 Deletion

Hi my name is Kat and I have a 7.5 year old who has only in the past few months been diagnosed with a chromosome 8 deletion, after years and years of tests and seeing numerous doctors and geneticists we finally got access to a test that came back with a "diagnosis"! which I have to admit was fantastic!! for over 6 years I was constantly being told that there was nothing she could be diagnosed with even though when you looked at her you could see she was different....... The chromosome deletion she has inherited from her biological father and is missing the whole bottom half of her 8th chromosome that she inherited from him.

Bella was born a day after her due date and weighed 6lb 8oz (2.9kgs) and was just under 3kgs at 3 months of age, she was then admitted to hospital for 3 weeks where they diagnosed her with failure to thrive and inserted an ng tube that fed her for the next 10 months.......she was also diagnosed with severe hypotonia and a global developmental delay at this stage and to hold her was like holding a floppy doll. Bella was referred to specialists and therapists and is still seeing alot of them now. She crawled at 15 months and was over 2 before she walked and even now she is extremely clumsy and falls and trips over air. We have experienced alot of problems with Bella and feeding as she pockets foods (chews food till she gets tired and holds it in her cheeks until she either swallows it or can spit it out) although shes gotten alot better with this over the past 2 years and rarely does it anymore. B started school when she was 5 but didnt attend full days until last august. It was only last january that we found out that bella has hearing problems, they inserted grommets and were now dealing with ENT specialists who have only last thursday diagnosed with a unilateral hearing loss and waiting to hear back from hearing australia about getting her fitted with a hearing aid or cochlear implant. She also has good and bad days, bad days when she wakes up its like shes looking through you and isnt there at all...she will get out of bed and just stand in the middle of her room and wee herself. the paediatrician thinks that maybe shes having seizures so were off to see a neurologist tomorrow and shes getting another eeg......

im hoping that someone else will read this and relate to what weve experienced with Bella because the world seems very lonely at the moment and would be amazing to have someone else to talk to who relates to what were dealing with.............
bellatilly bellatilly
26-30, F
May 6, 2012