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I have one nonsense mutation that produces no protein and ends with an X.

The other one is extremely rare and I found out that because of it's structure the mutation was thought to be a class one...

Hi! I would love to read more updates on people with residual function splice mutations on Kalydeco! I have a really rare residual function splice mutation, 4005+2T-c that would likely respond to a...

You can try to send an e-mail to the adress on the cftrsplicing.com web site!

Hi! I just wanted to add an interesting detail that Vertex presented during the European Cystic Fibrosis Conference this year:
“ Results presented at the meeting showed that treatment with ORKAMBI...

WOW! That's great news! They said previously that they only considered one of those 5 (which would have been strange) but now all 5 are approved. I hope they find a strategy to move forward with the...

Thanks Jeannine for your efforts to inform about the EAP! I don’t know if the Vertex’ EAP’s are valid in Europe but knowledge about these modulator drugs is really lacking here… So these are only for...

Hi! I just saw in another post here that you have one of the splice mutations that Vertex want to discuss label expansion for, the 2789+5G->A ? Do you know the name of the study you would participate...

Sarah, I totally understand you ask your self if those two hours a day, spend on treatments are really necessary. Does she have any mucus at all? If there isn't much mucus to evacuate from the lungs,...

That's a valid question Sarah. I don´t know the awnser though. I guess, your daughter might have the opportunity to keep her good lung function for maybe all her life, thanks to the fact that she has...

Here in Sweden we all more or less use what you call NAC in an efervescent tablet 1200 mg/day. I have used it since I was a child and I am now 44 and it is quite cheap too and sold in most pharmcies...

Wow! That sounds great if it could be used to administer IV-antibiotics! Do you think it would replace pick-lines and ports? I live in Stockholm but have never heard of it.

I´ve seen 2 of the plenaries so far and I agree it´s inspiring! I especially liked the speach by the young dutch researcher Gitte Berkers on organoid in vitro testing. I hope organoids will be used...

Thanks Jeannine! Were you at the conference?

A lab in the Netherlands have found a new, reliable way to test drugs like Kalydeco in vitro, by growing an organoid of a patient´s intestine. If the gut reacts positively on the drug this could be a...

Hi! Although it´s been a year since the last post here, I just wanted to say there is a nice Facebook group called "cf-mummies" for women with cf, who want to become mothers or are mothers. It´s a...

Great article! I appreciate so much the efforts you, jricci and others are doing to try and help others in accessing Kalydeco!

I see you have an x-mutation like me and that gives me hope that the...

Thanks for your reply! I have an appointment with one of the senior doctors at my clinic soon, one.of wery few who actualy knows anything about new therapies. I hope she isn't prevented from saying...

Hi! I'm new to this site and forum. My previous post got lost while I was writing it... so I gues I'll have to try to write less and faster. I have one of the mutations listed in the Denver study;...