[laura-lee-joiner]

Hi

[laura-lee-joiner]

I have a deep sense of survivor’s guilt just because I am now 48, just getting diagnosed, and as a person with CF who was born in the 1970s only have a life expectance of age 14.  I feel guilty because not only should I not be alive, I have even been sick enough to be diagnosed until now.  I know it’s silly and I am grateful for the life I have had until now, but I think about how differently I might have lived my life if I had known about CF before now.

Overall, I am grateful for the life I have had and thankful that I have not had to go through what a typical CF patient has experienced.

[laura-lee-joiner]

My story is pretty similar to some above. I was just officially diagnosed about a month ago at the age of 48. I had COVID in early January and while I never got particularly sick, I had lingering respiratory issues … horrendous cough with shortness of breath as well as laryngitis.

I work in healthcare and after about three weeks of this garbage, I got in touch with a friend who is a pulmonologist. She gave me a couple of weeks of Breztri samples. When I wasn’t better in those two weeks, she started seeing me as a patient in February.

At that visit I had a chest X-ray, PFTs, and a chest CT. The chest CT had “tree-in-bud” lesions and bronchiectasis. Those results are what started me thinking because both are associated with CF.

I knew I was a Delta508 carrier from preconceptual testing I did in 2005 so I asked her about it. Since I have never been particularly sickly, she jokingly told me to stay off Google. (I made sure to let her know that I was using UpToDate and not Google). I was feeling a bit better at that point so we laughed about it and I let it go.

However, my symptoms persisted for months with the awful cough coming and going but the shortness of breath and laryngitis continued.

By late June, I had been on 3 different antibiotics for 2 weeks each round and had two chest CTs and a bronchoscopy. I had three different sputum cultures all with Staph aureus (thankfully not the resistant kind). I had also seen ENT to see if COVID had done something to my vocal cords or sinuses. The pulmonologist had also done a pretty deep dive work up to see if I was immunocompromised.

I was still feeling terrible and got back on UpToDate (and some Google) and realized I had a good bit of suspicious history that fit even though they were mild. I also started thinking about the fact that my 2005 screen only had 25 mutations included and now the available screening panels can contain a lot more. (Recurrent Staph pneumonia, asthma, chronic constipation, mild infertility, aquagenic wrinkling, salty sweat, bronchiectasis, “croup” as a kid, possible intermittent distal ileal obstruction)

 

I got bloodwork for a CF screen that checks 1500 mutations sent from my office, found my second mutation, and that started the process of getting diagnosed.

Even in my first adult CF clinic visit where they ordered the sweat test and a whole genome CF test, I got the distinct feeling that they thought I was going to have a CTFR-related disorder and not full CF.

I am now on the vest with albuterol and saline nebs. I got one more round of antibiotics and the cough is finally gone. My voice is almost completely back and shortness of breath markedly better.

I’m now waiting to see if my insurance will cover Trikafta.

[laura-lee-joiner]

I’m in the US and truly just consented to everything CFF registry, Trikafta etc at my clinic visit last Wednesday. So far, my insurance has covered everything and open enrollment is coming soon so planning to bump up my coverage.

I’m optimistic that the Trikafta will be covered but shudder to think about what the copay might look like.

My husband is a teacher and provides our health insurance. I’m the primary breadwinner so I’m planning to do everything possible to stay at work. I will happily accept any copay assistance available.

This adult diagnosis thing is a true mind trip. (There’s a more adult word  I’d rather use here but I know that we have to keep things clean)

I’m still struggling with fitting in an additional hour and a half of the respiratory care into my already too full schedule. (40-ish minutes twice a day) … although I am getting better at it. I keep experimenting with what I can do and what I can’t do while wearing the vest and doing nebs.