Next Steps

It has been two months since we have received Rowland's CF diagnosis and I feel like not only have I learned a plethora of information, but I have also become more aware of the privilege we have. What I mean by this is the timing in which Rowland was born, where we live, and Bryan's established career and the insurance that comes with his established career provides us the best care for CF in the world, a luxury many people living with CF do not or previously did not have access to. If we chose to get pregnant right after we got married in 2016, a modulator would not have been a reasonable and attainable goal for Rowland like it is now. If we were still living in Hawai'i we would not have the diagnosis we have now nor CF care at all as there are no CF clinics on the Big Island of Hawai'i. If we didn't have insurance, I have no idea how we would pay for his care. We are extremely fortunate to be in the situation we are in and we do not take that for granted.

With that being said, Rowland does not have access to a modulator, a drug that restores some function in the CFTR gene. While 85%-90% of people living with CF are eligible for a modulator, Rowland is not, and for me that has made processing this diagnosis more difficult. A modulator is not a cure, but it is the closest thing to a cure that currently exists. I believe the younger Rowland can get on a modulator, the better his outcomes will be. A modulator cannot change the lung damage that has occurred in the past, however it can prevent future lung damage. It is important and I would argue critical for Rowland to get on a modulator young if we want to avoid hospitalizations in the future. I do believe I have come to terms that hospitalizations could be in our future, but I would be stoked if we could just avoid them all together. 

Explaining the privilege we have and what modulators are sets me up for explaining some promising (but not guaranteed) news from our geneticist. A few weeks ago we learned that Rowland is eligible for a study where we could take a sample of Rowland's nasal cells, send them to a lab in another state where they would grow his nasal cells, and then once the nasal cells are grown could be tested to see if they respond to all four modulators that are currently on the market. We would then receive that data and if any of the four modulators responds to Rowland's nasal cells, we could provide this evidence to the insurance company and hopefully get the modulator approved by insurance. Unfortunately there were some caveats. Due to Rowland's age, he would most likely have to be sedated in order to get the nasal cell sample, however sedation isn't recommended for babies. Further, when I was doing my own research, based on limited data, I was convinced Rowland's mutation H609R would only respond to Trikafta (which is amazing news itself) however Trikafta is available for ages six and up so even if we received data that his mutation responds, Rowland isn't at the age where he could become eligible for Trikafta. 

Well, the geneticist called a few days ago and shared that she spoke with the ENT (Ear, Nose, & Throat) doctor who explained that she believes it is possible to get the nasal cells from Rowland without him being sedated (think bad nose covid test). We have also learned that someone with Rowland's H609R mutation is on Kalydeco, a different modulator, and has not been hospitalized since getting on Kalydeco a year ago. This means that there is evidence that Rowland's H609R mutation could respond to Kalydeco. Kalydeco is approved for babies as young as four months which means Rowland could start taking Kalydeco soon if everything works out. Further, the geneticist explained to me that Trikafta is in phase three clinical trials for ages two to six. She believes the FDA will approve Trikafta for ages two and up before Rowland is two. 

The news is promising, but it is not going to be a walk in the park. I have an appreciation for concrete next steps and so these are (hopefully) ours:

1. Enroll in research study

2. Appointment with ENT to retrieve nasal cells

3. Study is conducted (takes a few months to grow nasal cells in the lab and then test modulators on them)

4. We receive data on how Rowland's nasal cells respond to the various modulators

5. Submit data to the insurance company for use of Kalydeco

6. If insurance company denies coverage, go to court (No big deal, lol)

7. Rowland gets on Kalydeco

8. At age 2, submit data to the insurance company for use of Trikafta

9. At age 2 Rowland gets off Kalydeco and on Trikafta

Of course there will probably be some road bumps along the way, and none of this is guaranteed. This would be the ideal scenario for us and a scenario that would not have been possible in the past for other CF patients so I am incredibly thankful for that.

That wraps up all of the news we received last week. The news is very hopeful and I was elated to receive this unexpected call. I also still have a lot of low moments trying to discern and balance what precautions we need to take with living our lives to the fullest. I pray for the day this becomes more clear and that Rowland can get on a modulator so perhaps we could feel comfortable letting up on our precautions a bit.

One thing is clear: I am so grateful for the CF foundation. There are so many events and ways to fundraise for the CF foundation and Bry and I had no idea how much this funding and research would impact our lives. Without them, Rowland would not have these opportunities. We definitely want to do some fundraising of our own for the CF foundation eventually so stay tuned for that!