A month ago in Brisbane, Australia I attended my first ever Rett Syndrome Family Conference. It was the first time I'd attended any Rett-related conference and I came away with so much information and such respect for the families who have been on this Rett-ride for decades.
It was at this conference that I heard a fantastic sentence used by Professor John Christodoulou (from the Westmead Children's Hospital, Sydney) as a way to describe what happens with the MECP2 genetic mutation that is responsible for Rett syndrome. Imagine a normal gene expression of the MECP2 gene as being a sentence like:
The red dog sat and the fox ran.
It makes perfect sense and works as a sentence.
In Rett syndrome using the sentence as a base structure, the different mutations of the MECP2 gene can be described thus:
The red dog rat and the fox ran.
This is a Missense mutation where just a small letter changes but it changes the meaning of the sentence.
The red dog San dth efo xra.
This is a Frameshift deletion where all the letters are there but in the wrong places.
The red dog and the fox ran.
This one is an In Frame Deletion and you can see that one whole word is missing and changes the meaning of the sentence.
The red dog sat.
This is a Nonsense mutation where the end of the sentence is completely missing.
Eva's MECP2 gene is a Nonsense mutation, called R255x, and it makes complete SENSE to me that she has something called a Nonsense mutation. In fact if I just look at that word it sums up the way her personality has dealt with this whole Rett thing and it makes me chuckle. This is a girl who blows raspberries at serious doctors, particularly the kind who are condescending. This is the girl who is allergic to peanuts but not almonds, anaphylactic to salmon but not tuna and allergic to sesame but not chia seeds. R255x is a mutation that is regarded as one of the most severe in Rett syndrome yet Eva has thus far been fairly healthy, been vocalising a lot and not gotten seizures. She is confounding the phenotype (physical presentation) for her genotype (gene mutation).
She is full of nonsense and laughter and childish giggles. She is complex and confounding and in response to difficult situations either falls asleep or crosses her legs and peers over her glasses. She is an enigma. I can't wait until they find that magic drug that will complete her sentence. Until then, maybe we should get her a red dog (a red cattle dog for sure) to sit patiently at the end of her bed waiting for her to wake up and play one day.