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.

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

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?