Why is Eleni undiagnosed and what makes her rare? My very basic logic of a complicated explanation is …
A human does the bulk of its development in those first twelve weeks in the womb. Thousands of cells are splitting, dividing, and building. DNA, the human genome, the instruction for human building is working away to put everything in its correct place in the right order for ‘expected’ and ‘normal’ human development. This very early point of development is where something went awry for Eleni and it’s this which for me, is the most problematic issue because it’s nowhere near being understood by anyone. In spite of this, she did arrive and she arrived strong – this miraculous little wonder women who makes no logical sense.
In spite of six years of inexplicable discoveries, she continues to thrive. She is Incredibly smart and clever, highly capable, and does achieve physically and mentally. In spite of her misunderstood variations to the norm, she continues to defy the odds and receives very little (willingly offered) intervention to help.
As her mum I really struggle with the fact she makes no sense whatsoever and feel our main and fairly unique crux of our problems is the fact she doesn’t fit the expectations or appearance of what a rare or undiagnosed person should be!
I will always embrace and encourage the positive aspects to the maximum but at the same time I cannot completely ignore the difficulties she already faces or the very real possibility of what she may face in the future. At times, I feel guilty and unworthy of having such worries as she is doing well but that nagging voice inside keeps confirming to me, no one really knows or understands her or the science involved … yet.
She really is a true life wonder woman and I live in hope that one day science and medicine may provide us with a starting point to make the changes needed for us and the 6,000 other children born every year who remain undiagnosed.