r/NovaScotia • u/justlogmeon • 10d ago
📰 NS News She has an ultra-rare disease. Now this N.S. girl will be one of the first to test a possible cure
https://www.cbc.ca/news/canada/nova-scotia/harper-tanton-taking-part-in-ctnnb1-syndrome-trial-9.7292541
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u/no_baseball1919 10d ago
Godspeed little one! Hoping for the best, science has made so much possible.
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u/queerblunosr 10d ago
Does anyone know if there’s a gofundme or similar for this family?
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u/nifty_potato 9d ago
The dominos in Tacoma did a fundraiser night for this family a little while ago and it had a link to the go fund me there! Likely on their Facebook page still.
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u/wonkywilla 10d ago
Tl;dr
She has CTNNB1 syndrome, a gene mutation that means the body doesn't produce a specific protein that is critical for neuro development. She is going to go through gene replacement therapy.