uncommon variant, what to do- need advice? 3849+10kbC->T and 5T

[Mom_EC]

My 6 year has mutation in 3849+10kbC->T and 5T
He had a 48 result in sweat test
These tests were recommended due to 2 years of sinusitis (unresponsive to antibiotics) and the discover of nasal polyps

ON the CFTR2 site, it says only 3 people on their database have this variant
We are waiting on genetic tests for me and the father

Originally the CF doctor had wanted to start him on preventative protocols. I asked if we could wait for the our (the parent's) test results. He agreed since it is only 2-3 weeks and my son is not in distress. The doctor explained preventative care was important to delay lung disease and damage. He said he was 90% sure my son has CF.

When I talked to the doctor again, with my son's father on the phone, the doctor backed off starting the preventative therapies unless it is clear that there is something already happening in the lungs.

What are peoples experiences with "preventative therapies"?
Do you start a treatment when there is not yet a problem with that organ?

Thanks for any insight

 

[kenna2]

Depending on your son's mutations and symptoms, preventative therapy could be a number of things. One would be an airway clearance device(vest, vibralung, Afflo Vest), the newly approved CF meds Orkambi or Kalydeco, possibly an aerosol or inhaled treatment (like albuterol some sort of asthma medication to open airways), or oral medications if he's not pancreatic sufficient. This is almost the standard preventative care for ever CF patient. It's important to start these before there is an issue is because CF is a buildup of mucus and inflammation in many different parts of the body. Our goal always is to keep the mucus moving as best we can to prevent and delay long term damage to these parts. Cystic Fibrosis unfortunately doesn't get better and more meds will need to be added in the future. The bright side is this is the best time to be diagnosed with it because the new medications and research that has come out is expanding our lives and we're living into adulthood now! It's really exciting and encouraging that our future is getting brighter and brighter every day!

 

[agerrard31]

I have a 2 year old who was diagnosed shortly after birth. They started treatments right away and took away stuff as it was discovered that it was not needed. She was put on enzymes right away, and then we discovered she was pancreatic sufficient so she was taken off. We started also percussions right away, its hard to imagine doing them to a 1 month old, but it got easier. There are so many medications, and at least for us it was all specialty treatment, which meant that even though we have good insurance, there were still higher out of pocket costs, so if you dont have the official diagnois yet, you may want to wait on medications, as they can be very expensive if your not on medicaid. After a month of working on pre-auths, we finally got approved for Kalydeco today. Hopefully with Kalydeco on board my daughter's medication list will go down from 2 pages, to just a few.