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 delayed myelination of the white matter. This essentially means that when Edith’s brain was developing, the white matter was not fully coated in the myelin sheath that is present to protect the pathways for communication within the brain. In some of the deeper areas of Edith’s brain, there is no myelin sheath present at all. Even the neurologist can’t really explain what this means for Edith but we do know that scans 2 years apart show no apparent change, which is good as it means it’s not deteriorating. 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. Edith suffers with poor muscle tone (hypotonia) due to her brain not being able to send 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 gastrostomy button (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.