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brandonalbert
04-24-2012, 03:21 PM
My son who is 8 years old was just recently diagnosed with CF. He is on enzymes which have made his tummy feel much better. He has never had a lung infection or major cough, we feel very fortunated for that. His mutations are v520F, & DeltaF508. I was wondering if anyone has any info on V520F that they could share. Thank you.

brandonalbert
04-26-2012, 04:13 PM
Thank you for the great info!

I did check the website and the info was very informative.
My son has had a lot of stomach issues. He takes enzymes with his meals and they have made a big difference in making him feel a lot better. He has had no lung infections, but his sinuses are very plugged.
That is very good news that they might start clinical trials this year!
Best wishes to you and your son.

kyeev
07-29-2012, 12:04 PM
Hi,
Here is one perspective from a V520F-er!
I'm a 36yo male and have DF508/V520F.
I have about 35-40% lung function now, but was very well all through childhood and teenage years, with first IV's at age 10 and 2 or 3 per year after that. I do cough up a hell of a lot phlegm per day now though (~100ml).
I take about 10 creon 25000 with each meal, but I'm slightly above average size for a CFer so eat a lot, about 5ft11 and 75kg. I reckon I have zero pancreatic function because if I miss creons, cramps etc are severe.
Don't know if Kalydeco will work for V520F, but I'm sure hoping it will.

EDIT: New information shows kalydeco/ivacaftor monotherapy has no effect on V520F. Which sucks...

Printer
07-29-2012, 01:35 PM
kyeev:

It is my understanding that Kalydeco has been extremely disapointing regarding pancreatic issues.

Bill

kyeev
07-30-2012, 08:18 PM
Thanks Bill, it's interesting kalydeco doesn't have an effect on PI. Maybe the secretory cells and ducts and what-not are smashed beyond repair, so there's nothing for it to work with.
Hey, as long as it does something in my lungs, I'll be happy.

brandonalbert
08-02-2012, 12:29 PM
Thank you for your post. It is nice to hear from someone who has the same mutations as my son. Although I realize that everyone has different symptoms.
I have been trying to find out as well if there is hope for Kalydeco for V520f. I pray that it will help with your lung function.
My son had his 1st psuedomonas this year and thankfully with one round of TOBI it got rid of it. Do you culture anything? If so, since what age?
What sort of physio do you do?
My son does the PEP therapy, and enjoys Karate, bike riding, and soccer. He is thinking he might like to try running. It seems when he runs he is able to cough up more. Although he never seems to have much to cough up.
He is small for his age 8, and needs to take enzymes with food. He does not have much of an appetite which also causes the slow weight gain.

kyeev
08-24-2012, 09:40 AM
Wow, a lot of questions: Here goes...

I cultured regular Pseudomonas aeruginosa at age 10, hence the first round of IV antibiotics.
Previous to that I had cultured staph aureus, treated by oral antibiotics.

These days I usually culture 1 or 2 strains of mucoid P.aeruginosa.
(I don't know if I picked these strains up or if they evolved from my first infection).
I get IV tobramycin and ceftazidime (fortum) about 4 times a year.
Recently changed to Cefapime as ceftazidime doesn't work any more.

Physio wise, as a kid up to the age of 16/17, I coughed up hardly anything.
Back then the regime was postural drainage and clapping the sides and back.
I always did loads of exercise, not because I had to, but that's just what all the other kids did.

These days, because I cough up so much phlegm, I have to tip up and use postural drainage.
Apparently this is very old school.
But, for me, it clears 90% of the phlegm in about 10 minutes.
I also find somebody clapping me on the back, while tipped, helps get the last 10% out.
So this is peculiar to me and doesn't work for most people with CF, from what I hear.
(probably cos they don't cough up much phlegm).

In my 20's and early 30's I played a lot of soccer and I always found I coughed up much less phlegm the day after training practise/soccer game.
Again, I played because I loved it.
I never stuck at running because I disliked it.
So I guess, finding something your son likes to do is important.
Try him out at everything: tennis, Golf, hill/mountain walking, rowing, he'll find something he likes I'm sure.

Of course exercising is easy when you have the extra residual capacity to exercise easily as I did back then.
Now, as my lung function has dipped under 40%, I find it incredibly hard to exercise.
Walking on a flat is fine, but going up hill or breaking into a jog is next to impossible.
Not to mention frustrating...

Finally, weight wise, I always struggled to put on weight as a kid and into my 20s.
Now in my 30s, I find it easier to keep the weight on, (I suppose similar to most 30 somethings).
My parents tried and tried to get me to eat, so much so that I hated meal times.
Of course I liked junk food but back then it was doctors policy to eat healthily (and even fat free).
Now, we all realise (and laugh about it) they should have been trying to shovel chocolate bars, burgers, fries, cola, etc down me
We CF-ers need to embrace the obesity epidemic.
So now I eat normal healthy meals plus all types of high calorific food (be that burgers, fries, biscuits, cake, high cal drinks, whatever).
My BMI is 23, about as good as it can get, I believe.

And don't worry about your son's size, if he gets enough calories into him, he'll more than likely grow to his full height.
I'm about the same height as my Dad, although puberty was delayed, all my friends shot up at 14yo, while I didn't start growing til about 16 or 17yo.
But I passed most of em out in the end...

amykay1965
09-15-2012, 10:29 PM
My daughter also has V520F. I was doing some research on it and ran across your post. Have you heard anything about trials for Kalydeco with V520f?

Taylersmom
09-16-2012, 05:57 PM
Hello my son is 14 and he has V520F & 1717>a>g... So far I have researched the V520F is a class 3 mutation. As far as I can tell, Kalydeco will be able to work on it..after the clinical trials (3rd phase) are finished this year... I am hopeful!

brandonalbert
09-17-2012, 12:40 PM
Thank you for taking the time to reply, I really appreciate it. Sound like you have a good balance of what works for you in your life. That's what we aim to do is try and find what works for him in his life. It is great to have your wisdom since you have lived this everyday. Thank you for that.

kyeev
09-21-2012, 10:02 AM
My daughter also has V520F. I was doing some research on it and ran across your post. Have you heard anything about trials for Kalydeco with V520f?

The guy in charge of in vitro CFTR testing at vertex (Kalydeco) is Fredrick Van Goor (Email:[email protected]).
He would know if there was any evidence of Kalydeco working in V520F.

amykay1965
09-22-2012, 11:18 AM
Thank you so very much for the information. I have emailed Fredrick Van Goor.

kyeev
10-17-2012, 07:15 AM
My daughter also has V520F. I was doing some research on it and ran across your post. Have you heard anything about trials for Kalydeco with V520f?

New information shows kalydeco/ivacaftor monotherapy has no effect on V520F. Which sucks...

brandonalbert
10-17-2012, 01:11 PM
That does suck. Maybe the combo that they are testing will work? I pray it will.