Edith is a very special little girl. She is so rare and unique, she still remains undiagnosed.
What we Know
So although Edith has no formal diagnosis we are very fortunate to still be able to explain some of her difficulties. Edith has a brain malformation known as Cortical Dysplasia. What this essentially means is that when she was developing in the womb, and in particular when her brain was forming, the neurons that are supposed to migrate to the different parts of the brain decided not to. We still don’t know why this process didn’t happen properly (the undiagnosed bit). This does mean from a learning point of view, she is incredibly behind. This condition also means that she suffers with epilepsy. Edith suffers with poor muscle tone (hypotonia) due to her brain not sending the right signals for the muscles to tense. This is a major factor in her ability and causes her significant physical delay.
Starting with the Cons
Edith is unable to crawl, sit independently without constant supervision, walk or talk. She is unable to eat orally (since April 2017) and is fed a special formula via a PEG (feeding tube). All forms of her care are solely reliant on an adult to do or help with.
The Oh so Important Pro’s
Edith can smile and has the best laugh in the whole world. She makes me laugh everyday with her quirky mannerisms and playful character. Edith is able to stand with the assistance of a frame and has recently acquired a walker, which she is still mastering. She spends the majority of her time in a special chair that allows her to take in the world around her, safely.
I think this just about covers the basics! As Edith’s Mum I am really excited to share her journey with you.