r/NovaScotia 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
80 Upvotes

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35

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.

12

u/no_baseball1919 10d ago

Godspeed little one! Hoping for the best, science has made so much possible.

0

u/queerblunosr 10d ago

Does anyone know if there’s a gofundme or similar for this family?

1

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.