cftrsplicing
New member
Just wodering who has this allele.
I have it aswell as a Stop class I mutation.
I have it aswell as a Stop class I mutation.
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2789+5G->A mutation
- Thread starter cftrsplicing
- Start date
janicetriplets
New member
I have your mutation!
cftrsplicing
New member
How are you?
I read from your profile your mutation is: 2789+2insA, I Think it's slightly different.
I'm 31 and doing quite fine.. no PA, some Hemoptysis. MRSA coming and going. FEV1>90%. Some GI problems.
I read from your profile your mutation is: 2789+2insA, I Think it's slightly different.
I'm 31 and doing quite fine.. no PA, some Hemoptysis. MRSA coming and going. FEV1>90%. Some GI problems.
janicetriplets
New member
hi! I have 2789 +5g>A oh didn't it was different... Iwas diagnosed with cf when I was 32 (I'm turning 40 in january) I did not have lung issues until I caught mac. abscessus and started with hemoptisis when I was 31. I had stomach problems all my life , pain , pancreatitis and severe constipation.
After I had my triplets my health went a little bit down hills and for the first time I started ivs 6 months ago.
After I had my triplets my health went a little bit down hills and for the first time I started ivs 6 months ago.
cftrsplicing
New member
Fev1?
Why don't you try Kalydeco?
Arent you eligible?
Why don't you try Kalydeco?
Arent you eligible?
I have this mutation as well as DF508. Back when they first did genetic testing on me, this mutation was still unknown, so I just found out about it when the testing was done again in order to see if I would be eligible for Kalydeco.
In reading about it, I learned that it seems to be associated with slower progression of the disease because for some reason it produces some working proteins along with the majority of non-working ones.
I'm 40 years old and was diagnosed at 7 months due to a bout with pneumonia from which I did not recover well. Once diagnosed and treated with antibiotic for PA and digestive enzymes, though, I improved and had a healthy childhood. IV antibiotics and hospital stays didn't happen for me (except as a baby) until my early 30s. I have PA and MRSA, and FEV1 was 56% at last check, I think. My FEV1 stayed in the 80s until a sudden unexplained drop a couple of years ago.
In reading about it, I learned that it seems to be associated with slower progression of the disease because for some reason it produces some working proteins along with the majority of non-working ones.
I'm 40 years old and was diagnosed at 7 months due to a bout with pneumonia from which I did not recover well. Once diagnosed and treated with antibiotic for PA and digestive enzymes, though, I improved and had a healthy childhood. IV antibiotics and hospital stays didn't happen for me (except as a baby) until my early 30s. I have PA and MRSA, and FEV1 was 56% at last check, I think. My FEV1 stayed in the 80s until a sudden unexplained drop a couple of years ago.
cftrsplicing
New member
I have a lot of papers regarding this mutation. Since I do this as a job too.
There 2 siblings living in the late 60s with this mutation.
And a study in France in which this mutation and 3849+10KbC mutation were studied in large groups of patients. (This study shows exactly what you said about slow progression of decline)
I have even a site about this, but can't comment on that here.
A lot of people in USA obtained Kalydeco for their splicing mutation, i think offlabel. Did you tried on yourself? Or are you trying to join the clinical trial in Denver?
The "good" fraction of protein we make can be potentiated about 2fold with ivacaftor (if we have 5% it can work like a 10%), and the more functioning protein we have the less gravity of this pathology.
In Europe we cannot use it offlabel because we should pay for it ourselves.
There 2 siblings living in the late 60s with this mutation.
And a study in France in which this mutation and 3849+10KbC mutation were studied in large groups of patients. (This study shows exactly what you said about slow progression of decline)
I have even a site about this, but can't comment on that here.
A lot of people in USA obtained Kalydeco for their splicing mutation, i think offlabel. Did you tried on yourself? Or are you trying to join the clinical trial in Denver?
The "good" fraction of protein we make can be potentiated about 2fold with ivacaftor (if we have 5% it can work like a 10%), and the more functioning protein we have the less gravity of this pathology.
In Europe we cannot use it offlabel because we should pay for it ourselves.
I have that mutation as well. I didn't loose lung function until a few years ago.... was in the upper 90's and now I in the low 70's. Pretty sure it is due to the MAC that I have in my lungs now.
I have always taken enzymes. I am a touch on the "squishing side" around the midsection and face.
I am being considered for Kalydeco.... waiting until we treat the MAC. (I am in Denver).
I was told the mutation causes a slow progression. I am almost 40 so.... that seems to be the case for me. I didn't need yearly tune ups until a few years ago.
I have always taken enzymes. I am a touch on the "squishing side" around the midsection and face.
I am being considered for Kalydeco.... waiting until we treat the MAC. (I am in Denver).
I was told the mutation causes a slow progression. I am almost 40 so.... that seems to be the case for me. I didn't need yearly tune ups until a few years ago.
janicetriplets
New member
Thanks for all the information! i've never been offered Kalydeco but I will mention this to my docs on my next visit. Right now i'm on a clinical trial for Arikace, i'm also on imipenem and azythro.
My FEV1 las week was 71%. When I was diagnosed almost 8 years ago it was 85-90%.
i was reading a blog from a girl with our mutations she was diagnosed in her late twenties and also had triplet babies like so like Jana said it's probably associated with slow progression of decline.
My FEV1 las week was 71%. When I was diagnosed almost 8 years ago it was 85-90%.
i was reading a blog from a girl with our mutations she was diagnosed in her late twenties and also had triplet babies like so like Jana said it's probably associated with slow progression of decline.
cftrsplicing
New member
Well then i m slightly different. I have it coupled with a severe mutation. Schloride at diagnosis on birth 87. I improved in last 12 months my fev1 from 89 to 108 thx to jogging. Wow. Now steady at 104. I m 31. After 3 yrs of Mrsa i decided to use no abx and managed to use it just 5 times. Mrsa is gone. Yes i have lot of mucus and hemoptysis and sa. But i m living waiting kalydeco. I enrolled but denver hospital declined cause i m too far. I m from eu. I would.push you to enroll.because i Know thebasic science beyond kalydeco.i m just curious about the degree of the improvement we can obtain. There is even another trial with egcg and vitamin e on splicing mutations.. but i m more confident on kalydeco
LittleLab4CF
Super Moderator
Just a note on CF mutations and apparently some data showing a general decline in health. At 30 something and still on your original lungs I would celebrate life and watch for a CF drug akin to Kalydeco for you. It is always helpful to compare notes with a particular CF mutation in common w/yourself but you must know that the statistics on all mutations are fairly new. 1989 we found the CFTR gene mutation locus and by 2000 only a couple hundred mutations were known. I repeated my genetic analysis w/Ambry Genetics both times. The number of CF mutations i was tested for exceeded 3000 plus a couple groups like SPINK 1, a pancreatic specific non CF mutation that might as well be CF. 66% of CF patients share the same mutation and the 4th mutation on falls under 1% of the 30,000 members of the CF population. The most common mutation presents itself all over the spectrum from minimum inconvenience to infant death. It might be worthy to keep notes on your mutations and collect information on others w/your mutations. I firmly believe that genetic drugs will be fast coming now there is a working model. It will be something to take a pill for all CF problems!
hang tight.
LL
hang tight.
LL
S
sdeuber
Guest
I have 2789+5G->A and G551D - wasn't diagnosed till I was 36 - I am now 48. Taking Kalydeco - my wonder drug
My wife has 2789+5G->A and D508. She is 45, mother of 2 and relatively healthy until the past several years. Now on O2 continuously and hospitalized 4+ times a year. Has been evaluated for possible transplant. She has 2 brothers with the same mutation who have far fewer symptoms.