I am not going to sit back anymore.

[suziesmom]

Ok. My only child, my daughter Suzie, is 25 years old. She was diagnosed at 11 years old. We just learned of her mutation about a year ago. We always knew one was the Delta 508. They have finally found the other but they said no one else has it. And it does not have an easy name. I will write it as it says on her chart:

869+1 869+4 delGTAA insACATTATT

I had asked all of you previously but no one really knew. I am hoping now that somebody will recognize this or maybe give me some tips? I believe that Kalydeco would change her life, and her attitude about life! She is doing her last 3 days of Cayston and is coughing so hard, constantly clearing her throat, almost throwing up. I know you guys know what I am talking about.

Somebody, anybody please help.

Thank you! suziesmom(PRAYING)

 

[triples15]

Hi Suzie,

So sorry that you did get the answers you were looking for last time you posted. Unfortunately, if you were told she is the only one with this mutation it's unlikely you'll find anyone here with firsthand knowledge. We do have some pretty dang knowledgeable people around here who maybe could help you find out at least what class of mutation it is, which may give you a better indicator of if Kalydeco alone could help her.

I'm so sorry she's currently not feeling well and having trouble. Such a bummer that Cayston doesn't seem to be helping. Does she do IVs? I know they're never fun (at all), but maybe they would get her feeling better.

I really hope some of our resident experts will see your post and chime in if they have any info for you.

Take care!

Autumn 34 w/cf

 

[Aboveallislove]

Hey mom,
I am so sorry she is struggling so much now. It must be so hard on her and you!
I wish I could answer your question, but I don't understand the coding. I have another mom of a CFer who does and will ask her but it might be a couple weeks because I know she have family visiting. In the meantime a few thoughts:
1) Ask her doctor to help you understand the mutation. He/she should be able to tell you what the coding means. What class mutation is it? (Generally speaking: Kalydeco should work on class 3,4,5 and Orkambi should work on 2,3,4,5). If it is a Class 1 mutation, find out what the issue is: I believe Class 1 mutations don't make protein OR that they stop too early. But if the break is late enough it might still benefit from the drugs or another drug (ataluren--which is in Phase 3 trials now I believe). If it is a Class 1 mutation ask if there are other more common mutations that have a similar issue because if she is the only 1 with it then there won't be any studies/test even in vitro that show if the drugs work, but if the doctor can say "this mutation has a similar problem but the protein stops two places later or earlier" then you can look for information on that mutation. Once you find out the class of mutation and the issue with it, please post again and I'll see what more I can find out. And I'll also see what trials might be available for her to see if meds could work.
2) Try contacting John Hopkins cftr2.org to see what information they can tell you about the mutation. They keep a database on it all and another mom emailed to ask about updated info and they responded. Ask them if they can help you with the questions above (what class mutation, etc.)

I'm not sure how much of this jargon makes sense. I didn't understand any of this 5 years ago and read and read and read. So if it is a bunch of gobbled-gook, let me know and I'll see if I can post some links of things that are good primers on the mutations and how the work, or rather "don't work."

Hugs and prayers,
Love

 

[Aboveallislove]

Hey Mom,

My friend was able to get back to me and she said that she couldn't really add to the info about what the coding means from your first post: http://forum.cysticfibrosis.com/threads/80923-Please-help-me-understand-daughters-mutations. But she said it seemed that it was unlikely that that mutation produces functioning protein. But that's something you should ask the doctor. Kalydeco doesn't work unless there is protein on the cell surface and Orakambi works when there is protein but not on the cell surface. The doctors though should be able to confirm or correct whether that mutation produces protein.

Vertex which makes Kalydeco and Orakambi will have a study shortly testing Orakambi on those like your daughter: one df508 and one other mutation not believed to benefit from the drugs. I'll post as soon as that study is listed on clinicaltrials.gov. And another trial is starting sometime this year with a next generation corrector which when added to Orakambi should help those who have df508 and another type of mutation.

Another thing you might consider is getting more information on Cystagon. This is a drug already approved by the FDA for another disease which has shown benefit for those with cystic fibrosis. Few CF doctors know of it and it is very early in the study process that few would likely prescribe off label, but I know there are a few in very dire situations or with parents in the science field who can present the case who have gotten it off label. This blog gives more detail. You might try to contact the person who runs it for more info.
http://newhopeforcf.blogspot.com/p/why-cysteamine-for-cf.html

Once you get more details from her doctor, please post and then we can try to deceifer is something above is wrong and what it means. Hugs and prayers,
Love

 

[Printer]

Have you had a conversation with Suzie's CF Specialist regarding ANY additional meds? If so what response did you get?