Officially, a disease is classed as rare if it affects fewer than 1 in 2,000 people.
It is estimated that 350 million people worldwide suffer from a rare disease, 80% of rare diseases are genetic in origin and 50% do not have a specific foundation supporting or researching their condition.
5 years ago, Aubree was born. In those 5 years she has bravely tolerated intense weekly physiotherapy, occupational therapy, speech and language and feeding therapy appointments.
Multiple blood tests, MRIs of her brain, Botulinum Toxin injections, countless Doctors poking and prodding and leaving none the wiser.
She has stumped every professional she has ever met, she is a quandary to specialists and more unique than we ever thought.
Most recently Aubree had a complete genome sequence, to try and find any possible fault in any gene that would cause her long list of symptoms to express themselves the way they have, it’s like trying to find a spelling mistake in 50 encyclopaedias.
Salla Disease is an autosomal recessive lysosomal storage disease, her mutations cause a build-up of Sialic Acid, which is toxic to brain matter, so it destroys brain and central nervous system tissue.
Oddly, it was quite a relief to have this definitive I-promise-it-won’t-change-in-a-year diagnosis, however tragic it seems, this was a reason behind everything she has, everything she is.
Along with this came a strange sense of pride, at this point we was entirely unsurprised by its rareness, the trail of bewildered specialists we left in our wake were proof enough.
Not much is known about this condition, nothing is certain, all we have is now.
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