Ellamae– Rare chromosome disorder
Ellamae has a rare chromosome disorder of a translocation of chromosomes 11 & 17 (a duplication of part of chromosome 17 has attached itself to chromosome 11, where there was a deletion). This combination is so rare that no other cases in the world have been recorded (as yet!), so it is difficult to determine how it will impact her in the future.
Ellamae is registered with the charity Unique – Rare Chromosome Disorder Support Group who have a worldwide database of rare conditions so is hoping one day other people with the same condition will be discovered and they can be connected.
Ellamae’s rare disease affects her in various ways, including focal absence epilepsy, global developmental delay, heart condition and bowel malrotation (which both required surgery), profound bilateral deafness (she has a cochlear implant), short stature (she has daily hormone injections), hypermobility and mobility impairments.
Ellamae is a very happy, cheeky and determined girl who loves frogs! She loves sensory experiences and toys that spin and light up! Ellamae enjoys attending activities with Little Miracles Charity and, under non-COVID circumstances, loves to get out and about! Some of her favourite things are visiting Sea Life centres and going on family holidays to Disneyland Paris! Fingers crossed it won’t be too long before she will get to see Mickey Mouse again!
Ellamae and her family joined Cambridge Rare Disease Network’s Unique Feet group during the first lockdown and she has enjoyed taking part in the Zoom activities. We are very much looking forward to meeting in real life (when it’s safe to do so again)!