Language
  • English
  • French
  • German
  • Italian
  • Portuguese
  • Spanish
  • Swedish
Back to Firefly Blog

When Every Day is Rare Disease Day

When Every Day is Rare Disease Day

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.

Firefly Blog

Real life stories, issues and experiences of day to day life by special needs parents and
healthcare professionals.

Guest Bloggers

Meet Our Blogger

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

View Guest’s Profile

Become a Firefly Blogger

Would you like to write for Firefly? Join our blogger network of parents, therapists and professionals.

Get In Touch

Become a subscriber today

Join over 40,000 subscribers to our weekly newsletter with insightful articles just when you need them.

Join Mailing List

By using our site you agree to our use of cookies. Click here for more info.

Accept & Close

No Interest if paid in full in 4 months on

Purchases on £99+

UK Customers only. Subject to credit approval. See terms below

Paypal Credit

Pay now or pay over time with PayPal Credit. Just use PayPal Credit in PayPal checkout.

Subject to credit approval.

Purchases of £99+:

No Interest if paid in full in 4 months on purchases of £99 or more.

  • A minimum monthly payment is required and may or may not pay off the promotional purchase by the end of the 4-month period.
  • No interest will be charged on the purchase if you pay it off in full within 4 months. If you do not, interest will be charged on the purchase from the purchase date at the Purchase APR applicable to your account.
  • Any remaining balance due after the 4-month promotional period or any transactions under £99 will be charged interest at 19.9% p.a. (variable).

Purchases of £98.99 or less:

Buy now and pay over time with PayPal Credit when you spend £98.99 or less.

  • If you pay your balance in full each month by the payment due date that is on your statement, you can avoid paying interest.
  • Or, make minimum monthly payments, or any additional amount of your choosing, until you've paid off your balance according to your standard account terms. Please note, interest charges may apply.
  • We'll send you email reminders when your payments are due. You can also keep track of your account and view your statements online at any time.

About PayPal Credit

  • PayPal Credit is a reusable credit line available on purchases at thousands of stores that accept PayPal. It's also available for purchases on eBay and exclusively at thousands of other online stores. Plus, it comes with the same security and flexibility you trust from PayPal.
  • In order to maintain the 0% offer, you need to keep up monthly repayments and stay within your credit limit. Credit subject to status. Terms and conditions apply. UK residents only.

Please wait...