When Every Day is Rare Disease Day

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Firefly guest bloggers are made up of parents, therapists and professionals who wish to remain anonymous.

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.

In my life, a rare disease is all of the unknowns surrounding my child.

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.

In 5 years of life she has been misdiagnosed with 6 different conditions, each one more tragic than the last.

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.

Incredibly after a long wait, we got results, they found 2 class V genetic mutations in the SLC17A5 gene, located on chromosome 16q14-15, causing a condition called Salla Disease.

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.

Our geneticist said, “I can’t quote a number, there is no national average, there are only a handful of people in the world with this condition, and none from this country.”

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.

So, this is Aubree. She has an incredibly rare, life limiting progressive disease, she is also the most tenacious, exuberant, kind, innocent, wild soul I will ever know.


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