Delta F508

My name is Spencer. I am 23 years old. I have the delta F508 mutation. I have had digestive issues my whole life. For awhile i thought it was just food allergies that i had that were causing it. So i cut out those foods. Which it did not help. Then after i graduated high school the issues were so bad that doctors could not figure it out. Then i ened up having my gallbladder and appendix removed because they made me very sick and ill. Which then helped for a short period. Then i started living in and out of the hospital. I was called a drug seeker. So then i Went to KU medical Center. They found out that i had chronic pancreatitis. So they did a genetic test which is when i found out the mutation I had. So They started me on medications to help and a nerve block which helped alot. I lost relationships and jobs because of this. It ruined my marriage which i am now divorced. Its hard to live still but not like it was. Just wish there was other ways to control it and medicine to help.

I have Cystic Fibrosis and my mutation is the Delta F508. I am on this new medicine called Orkambi and it is not meant to cure the mutation but it does reduce the symptoms. I have been on it for about a month now and I can already tell it is helping me. You might want to talk to your doctor about it if you have CF.

Hi Spencer,

As Austin said Orkambi is a new medication that's out that helps treat those with double df508. You should ask your doctors if you aren't on it already. Are you seen by a CF specialist team or a regular doctor. Not 100% sure how it works over there as medical care is a bit different but I know you do have specialist teams but they're usually long distances to travel unless you live in specific areas.

The main cf medications are :
Enzymes like creon or zenpep
Long term antibiotics -oral and nebulised
Short term antibiotics-ciprofloxacin, septrin or IV antibiotics
Pulmozyme nebulised
Vitamin supplements - mostly A,D,E and K
Hypertonic saline
Meds for acid reflux like omeprazole

Physiotherapy- most use the vest in the US but there is also acapella, PEP, Aerobika and Flutter.

It's hard keeping on top of treatments and trying to have a life, it must be harder when you've only just being diagnosed and quite scary. I think it will get better, easier to manage and also easier to manage relationships.

If you have any questions, do ask.

Gem

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Moderator of the Cystic Fibrosis forum

Hey, I'm Gem with CF, age 29 and diagnosed at 2 years old. I'm no expert but having CF myself I've learnt a few things along the way.
Diagnosed with: Cystic Fibrosis, Asthma, ABPA, Clinical Depression, Mild Liver Cirrohsis, Mild Osteopenia, Erythema Nodosum, Proximal Myositis, Polyarthralgia

As an aside, Orkambi does not help everyone, only about 40% of the people who take it. 40% have no real effect, and 20% (I was in that lucky group) were actually hurt by it.

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CF DDf508 w/ CFRD (dignosed 3 months) 43 years old, 2 kiddos

Hello! Whenever I look up Orkambi it's always stressed you need to have both copies of the DeltaF508 mutation, but only have one and a 17171-ga mutation, which I guess means I can't take it. Does anyone know why though?

Also message to Spencer...probably won't see it as it's about a year late... take creon! Creon is bae. I take 1 creon 10,000 per 7 grams of fat, which seems to work for seem reason. So about 4-7 for meals and 2-3 for snacks. Have a feeling people may need to take more than this, the best way is to experiment and see which number is best for you. A higher dose of creon is probably best, I think 10,000 is relatively low. It took years of trial and error to get to this happy place of no cramps at all, unless I forget to take my pills. Now I take this magic number of creon I haven't had a single problem with my digestion and I'm exactly in the middle range of bmi. So it's totally possible, you've just got to stick with it.