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cftrsplicing
02-03-2013, 08:34 AM
Hallo,
I know there are several of us with this kind of mutation.
My genotype is very rare. 2789+5G->A + E585X.
I tried to enroll in the Denver study with Kalydeco (Ivacaftor) but I'm form europe, then it's too far from here. And no one would pay for the trips.
I'm 31, Pancreas Suff. MSSA and FEV1>90%
I would push anyone with this mutation and able to enroll to do it. I'm too curious to know if it would be effective, since we have some residual protein on the cell, and since our aberrant part produce from alternative splicing is a truncated cftr protein named 836X.
This isoform is made up of NBD1-TM1-RDomain regions. So it could be potentiable in theory.

Imogene
02-04-2013, 01:40 PM
CFTRSplicing: There is only one other person here who reported that mutation in their profile.

Jana
02-05-2013, 08:31 AM
I have that mutation, but it's not in my profile. I didn't find out about it until last year. However, Denver is a bit too far for me as well!

hlyterra
02-25-2013, 08:39 PM
I'm new here. Been reading posts for awhile but honestly was a little nervous to post considering some of the comments I've read. I'm hoping for support as I don't have any and don't feel as though our CF Clinic has helped much in the way of that. Anyway, my son, dx at 8 is now 15, has F508/2789 5G>A.

Aboveallislove
02-25-2013, 11:28 PM
Welcome! Have you tried to get your son kalydeco off label???

Jana
02-26-2013, 05:44 PM
I have the same two mutations as your son. Although mutations aren't everything in determining outcome, it is good news because 2789+5G>A is associated with slower progression of disease since the body produces some working proteins. I'm 40 and by CF standards am fairly healthy, with lung functions between 60 and 70%.

It would be great to try Kalydeco, but there's no doubt in my mind that my insurance won't cover it off-label. It will be exciting to see how the trials come out, though!

Glad you posted. I've found a lot of practical help on this site and just avoid the drama when people get ridiculous.

hlyterra
02-12-2014, 01:40 PM
That's great to know that it is a slower progression mutation. He just turned 16 in December and has been pretty healthy. I wish he'd do his treatments twice a day more regularly but we're getting there. His baseline lung function is 110%. A vegetarian and eats a lot soy. He gained 10 pounds over the last 2 months. Very happy about that. He hadn't gained weight for 9 months. He now weighs more than his father did when when Trevor was born! He is in denial of his C.F.. Won't even tell his close friends. I've recently found him support, online of course, with a few local kiddos with C.F.. Hoping this will help him. I'm the one that needs support now. I think because of his late diagnosis, the CF clinic assumes we know everything and gets annoyed when I ask questions. Hoping I can find answers along the way here.
Thank you all in advance
Kim

hlyterra
02-12-2014, 01:44 PM
My son was pancreatic sufficient until 14. I was told the Kalydeco wasn't for him. When I pushed the issue, I was told it wasn't for his mutation. Is this something I should find out more about? Thank you for your response.

Aboveallislove
02-12-2014, 02:01 PM
kalydeco is only approved for one mutation but is believed to work for many other ones. If it is a residual function mutation it is believed to work. Once vertex announced the results fom the Denver residual function study sometime in the next six months, I'd take that in to the doctors and push for off label.

Printer
02-12-2014, 02:31 PM
hlyterra:

If you are not happy with your clinic I would, respectfully suggest that you try Boston Children's. It is a straight run down 95.

Good luck,
Bill

sdeuber
02-13-2014, 12:30 PM
I have G551D and 2789+5G->A. I am on Kalydeco because of the G551D portion.

hlyterra
02-13-2014, 07:54 PM
I have not. But I will bring it up at his next appointment. He is doing the 2800mg daily dose of ibuprofen instead of the azithromycin 3 days a week. So far so good with that.
Thank you

hlyterra
02-13-2014, 08:09 PM
There is a new doctor at the clinic that we met last month. He took the time to explain, in detail, to my son the importance of the medication and why they need to be taken in the order prescribed. Overall I felt much better at the end of the appointment. But Boston has been in the back of my mind. Only a couple hours away. Thank you

LiveStrong
03-25-2014, 09:43 PM
I have 2789+5G->A and 1677delTA, both pretty rare mutations I'm 35 years old with 87% lung function. i do about 60 to 100 miles of bike riding per week and am thankful everyday I can be out on a bike. Crossing my fingers that Veritex can find a fix for us all. I would have loved to join in one of the trails but my work/family life is much to crazy these days.

sdeuber
03-26-2014, 03:30 PM
I have 2789+5G->A (how do ever come up with these cryptic names????) and G551D. It is my understanding that Kalydeco was initially for any mutation with G551D; that's how I am on it.
Not too sure about the other mutations. The also approved it for two copies of the Delta F508. And recently:
The U.S. Food and Drug Administration announced today it has approved Kalydeco™ to treat people ages 6 and older who have one of eight additional cystic fibrosis mutations.

With the announcement today, Kalydeco is now approved for people with the following mutations: G551D, G178R, S549N, S549R, G551S, G1244E, S1251N, S1255P and G1349D.

Not sure about 2789+5G->A