[Jeanne]

I was diagnosed at 67, 2 years ago. 7 months later I was also diagnosed with pulmonary sarcoidosis. A rare but not unheard of combination. I would say that my CF seems “light”, as I had a relative with CF so already knew what more intense cases were like. The sarcoidosis is not being any fun at all.

As to CF, as a kid I had repeating sinus infections. I also had horrid constipation – but lied about it. I was normal body mass (BM) when young, but then never filled out. I ate plenty but never gained weight. I also had a lot of problems with overheating as a child and teenager. My family just thought I was “delicate”. At 50, I had a “weird pneumonia” bout. I went to the ER for a fever of nearly 104F. I’d had what I thought was a sinus infection. I ended up with a temp of over 101F for 10 days, with no antibiotics or return check ups. My doctor told me 3 days later that I had “pneumonia” (that diagnosis wasn’t given at the hospital.) It took a very long time to get well from that. Luckily, I’ve never again had anything that bad in my lungs.

2-1/2 years ago, I was sent for CF evaluation after an xray of my back (for spine pain) indicated a significant problem in my lungs. Next was a lung CT; then a referral from my allergist to a pulmonologist. When bloodwork showed me to be a CF carrier, I was the one who brought up the CF potential. They felt doubtful but referred me to the nearest CF Clinic.

My mutation has one “oddball” mutation: c.-581G>A (along with delF508). My sweat chloride runs 72-74. I now go to a CF clinic and have landed with a team that keeps a good eye on me. I’m now having some glucose issues and am considered at risk for CFRD. Watching that! I score good on my spirometry, but do have some bronchiectasis going on.

Meanwhile it’s the pulmonary sarcoidosis that now seems my bigger issue wrt fatigue, shortness of breath and weight loss. It’s all a big challenge that I didn’t expect, but there’s still plenty of quality in my life, and I’m going after all I can get.

[Jeanne]

I try to fend it off and have gotten into afternoon caffeine. Even 5 years ago I couldn’t do that, as then I couldn’t sleep. But now it works – and I can sleep. I was napping a lot in 2022. But I’m often thwarted by the “timing” of need for the nap, as I have had so many medical appointments the past several years. But, also, it’s unclear if CF causes me fatigue, or if it’s all from my pulmonary sarcoidosis. There is no way to know. But I will say that when I was resting or napping more, it didn’t often make me feel “better”… I would still get up from a nap or rest feeling sluggish and unable to tackle tasks that I not only knew I needed to do, but that I wanted to do.

[Jeanne]

Jumping back to Feb 13 – hi william, tim, all. An update and bit of history. History: “MAC” was the first thought by the specialist who read my first CT scan in March 2022. But then the F508 showed up in bloodwork… let’s skip a lot and jump to my CF diagnosis, trial of Trikafta (resulting in badly elevated liver enzymes), and then off Trikafta… in Nov 2022, they did an exhaustive bronchoscopy with what seemed a zillion biopsies in my lungs and lymph nodes. No micobacteria and no common “bad” CF bacteria. Lots and lots of granulomas all over the place. Only a little bit of bronchiecstasis.

Update: (1) my sarcoid team put decision on hold wrt going on methotrexate and or a combo with prednisone. Unsure if the decision might have to do with the “now-healing non-healing” wound I’ve been dealing with since an August skin cancer surgery on my tibia. Anyway, will do a new lung CT mid-May, then in early June they/we will re-address treatment of the sarcoid. (2) my non-healing wound is now healing – I changed wound care teams. Different treatment is working. Healing is slow, though. (3) I’m experiencing increasing shortness of breath and fatigue these days, but it comes and goes (going partly away). Still not as bad as spring/summer 2022. I am also, again, a bit anemic – but also, not as bad as 2022. And my FEV is over 100… I feel like I shouldn’t complain. I still often feel “misplaced” in these forums… but often wonder if my extreme spinal arthritis might be related to CF.

Tim – really glad to have read some good news about Reva. Any more news?

All of you ‘guyz’ leave me in the dust wrt your medical/bilogical knowledge. It’s impressive. At least it offers me some exposure to the terminology (thank you). -jeanne-

[Jeanne]

Hi. I’ve been off the forum for some time – but popped in today. Great read, this thread. Clear to me that you, Tim, and many others, understand CF far more than I do. As my lungs are not greatly impacted by CF (or so it seems), I have focused my light medical studies on the sarcoidosis that I have (pulmonary). Currently dealing with a non-healing wound from a skin cancer surgery on my leg… _getting anyone to consider that sarcoidosis should be checked out_, I am still frustrated by this 6 months after the cancer MOHS surgery.

For an update, I also had a lousy lung CT in December, but not feeling as bad (sarcoid-wise) as a year ago… my clinic letting that go until May, then another CT (& hopes to get the wound cleared up, as prednisone or methotrexate and a wound are “not pals”).

Enjoyed the turns of jargon (LOL) & indigenous people history stories. Thx. Most importantly, wishing the best for Reva!!!

[Jeanne]

Hi, Tim. WRT “joint stiffness”, what I discussed with both my hand specialist and also CF lead doctor was about it being the synovial fluid. The CF doctor said he hadn’t heard of positive impact to synovial fluid before, but that he would not doubt it could be so.

Some backstory: when I was 50, 17 years ago, I had a knee surgery on my right knee. They had to do a little exploring to find the problem as the MRI was unclear. Found a torn flap of cartilage which apparently had been getting stuck in the wrong position but then straightening out, causing 2 years of bad intermittent flare-ups countered by mysterious phases of being OK. After my surgery, my surgeon told me that he had never seen such “lousy” synovial fluid in a person as “young” as 50. He said I didn’t have enough of it, and it was too thick, and that I would likely continue to have knee problems (that’s been true).

Currently, my hand joints are behaving quite a bit better again. Probably partly the prednisone. Though it seemed like my body really rebelled when the Trikafta was taken away, but settled down a bit after 6-8 weeks. Could that joint stiffness possibly also relate to my liver problem? It took nearly 4 months before my liver enzymes dropped back into the normal range. Now I’m on the prednisone, and my hand joints are feeling pretty good. And the earache is gone again, too, even though it’s high allergy season here. (As a kid, I was sometimes given cortisone injections – not local but “whole body” cortisone, to control allergies and ward off sinus infections).

So far, no one seems to think that my sarcoidosis relates to being a pwCF. It is just “very rare”, is all I’ve heard. It’s convenient that my 2 lung clinics are right next to one another.

Oh, my prednisone dosage dropped last week to 3/4 of what it was. And I can feel the drop in energy, but lung function is still feeling quite good. I’m happy to be walking some 3 mile, no elevation changes, walks… 3 miles in an hour. Very good to have that back and I’ll continue to push my walking, in hope I get to hold onto the improved lung function after I finish this course of prednisone.

Still and always feeling a bit guilty for being a pwCF yet so generally lucky, symptom-wise, compared to most pwCF. The lung clinics I go to are in a teaching hospital, and I’m part of several studies. I hope they end up learning some things from my unusual combination of genes and symptoms.  -jeanne-

[Jeanne]

Hi, Tim & William. Yeah, when I first heard that prednisone is the usual first line of treatment for sarcoidosis, I thought I hope I don’t need it I hope I don’t need to have it. But my lung CT scan between last March and October worsened considerably, as did my shortness of breath and fatigue. I think the weight loss was caused by a combination of the sarcoid, CF, liver problem, and joining that was a bad UTI. I felt so crummy in December… it is hard to believe how much better I now feel.

Prednisone drops 1/4 dose this next Thursday. I am already wondering how much energy I’ll feel like I lose. Odd – I was so scared of this prednisone but now I’m really enjoying that part of the medication.

The ILD Clinic seeing me said nothing about any continuing low-dose of prednisone. I’m not going to dwell on it, just have to go with it, stay positive, and weigh decisions.

It does turn out that having both CF and sarcoidosis is quite rare. My CF however is a bizarre edge case, with my one “oddball” gene for which little is known. Seems to impact my gut and sinuses mostly.

Overall, I still feel somewhat guilty about what I face CF-wise: comparatively lucky next to those who have CF in one of its aggressively infamous forms. Now I have the sarcoidosis to deal with also. At least the word “granuloma” has a fun feel when it rolls off the tongue!

Tim, you’re a fount of info – thank you for sharing!

William, I read your piece about the lung transplant and it really hit me in the gut. I cannot even imagine. Thanks for sharing your time and talents to be the Moderator.

-jeanne-

[Jeanne]

Tim, so sorry that i did not reply! I have been so busy lately – and in some ways enjoying the boost of being on a high dose of prednisone for the sarcoidosis.

Liver enzyme issues are a known/sometimes side effect of Trikafta. And they usually resolve, and mine finally did! Last week I had a CF Clinic check up and a hepatic panel showed my AST and ALT enzymes finally back down within normal limits. Yay!

Have never had gall stones. A CT with contrast scan about 3 or 4 months ago showed my liver looking fine, even when the enzymes were still up. Glad to have those enzymes down. Now I know what it feels like to have one’s liver not working so well, and it was not a good feeling.

I started the prednisone treatment (for “sarcoid”) the 2nd week in March. I am in week 3 now. It is a 4 month course, decreasing by 5mg each month, then off. I’m on a sulfa drug just 3x a week to guard off bacterial infections. Both the CF and ILD (interstitial lung disease) clinics consulted together and gave the ‘OK’ to try the prednisone.

I’m having some of the usual prednisone side effects (shakiness, sleep issues), but none of the really bad/scary ones. Also having a lot more energy… and a lot more air! It’s odd, a spirometry test result meant little to me 14 months ago… but last week I was quite excited to have gotten my best score “ever”.

I haven’t gained significant weight – 1 US pound – , but expecting I still might – which would be good (if it sticks). The hope is that this prednisone treatment kicks my sarcoidosis down… and then fingers crossed that that lasts for several years. Meanwhile, it has reduced my sinus swelling, as I knew, from childhood treatments with cortisone, that it would.

-jeanne-

 

[Jeanne]

Jenny, I’ve barely e-met you, but have been impressed and grateful for your contributions! I am also very glad you’ll stay around as a participant. Thank you for serving so ably in a role that I am sure required a significant amount of your time.

I love how your personality comes through in your writing. Kind, and professional without ever seeming distant. You are a real jewel of a person.

WILLIAM, I’ve gotten to intersect with you just a bit and so glad of it… I feel sure you will be a terrific Moderator… and I thank you for accepting the extra work that will come along with it.   -jeanne-

[Jeanne]

I wonder if I can wake up this thread with a few comments and questions? DEANNA, I am wondering how the Trikafta is going? I was on it for 3 months + 1 wk, but my liver enzymes skyrocketed. I also had gotten a UTI. I was taken off Trikafta, and after re-evaluation after about a month, permanently off it. It only took a few weeks for the glorious positive effects it had had on my sinuses and joints to fade away. No real change to my lungs. Unsure about my gut (intestines in particular).

I really hope that Trikafta is a good fit for you. Feeling its positive effects kick in was such an interesting experience. I wish I could keep the good effects without the bad, but it doesn’t work that way with liver damage risk.

My liver enzymes have dropped back down a lot but still are above normal, even after 3 months. So now I’ve added hepatologist” to my list of “ologists”.

But one thing that I understand is that lung issues are the most monumental issue for most with CF. For me, it turns out that I also have pulmonary sarcoidosis (diagnosed in November)… and my shortness of breath is mostly due to that. Just getting going with a specialty clinic for “sarcoid”, while continuing to be watched by the CF clinic, and my sinuses treated again by ENT and Allergists, and for my gut I have a new gastroenterologist. It’s hard to say from which disease my fatigue emanates.

DEANNA, if you see this, plz chime in and let us know how your Trikafta voyage is going. I sure hope it is a positive game changer for you.  -jeanne-

[Jeanne]

I wish there had been more seasons: GLOW (Neflix). It’s been a few years. It could be my age (67) that made this show sit so well with me.

Seinfeld: I am going through it all again… me and my oldest, now blind cat. He loves couch and “TV” time.

Not a fan of murder mysteries. Knew someone who was murdered, never solved. One day I was reading a murder mystery and it just hit me like a brick, and that was it – no murder mysteries since. Maybe eventually.

Currently really liking “The Good Fight”!

I need half-hour recommendations!  -jeanne-

[Jeanne]

Thank you, William! Besides you, only my closest friends help me celebrate with no jokes such as “I’d be glad give you some of my extra weight.”.

Found out today at my CF Clinic appointment, that I will not be put on Trikafta again. I guess it’s good news in a way – So if my lungs didn’t need the Trikafta – as the bronchoscopy revealed – then it’s not worth the risk of what Trikafta did to my liver for the benefit I got for my sinus issues and other unexpected benefits. But I was hoping that Trikafta would help me gain weight. So now I just have to do that on my own.

Sprouted brown rice protein powder in smoothies is a new food thing I’m working with. I have “concocted” some pretty tasty 24g protein smoothies.  -jeanne-

-jeanne-

[Jeanne]

I have been thinking about this all week, but can’t pin it down. And I guess that is it: my diagnosis continues to evolve… nothing is stable. I thought that The Diagnosis, in July, was the start line to a new path that I would follow. But now I have a likely ILD (interstitial lung disease) Pulmonary Sarcoidosis. This after a bronchoscopy on 11/2. And if I have “sarcoid”, it may put the solidity of the diagnosis of CF in doubt (I have a ‘novel gene mutation’ -c.-581G>A- as my 2nd, with the common DF508 ). And meanwhile my gut problems just go on and on. Everything seems to have “shock factor” every few weeks!

[Jeanne]

Wow, Tim – you obviously know a lot about bio-chemistry (I don’t). Impressive. The first part of what you said is what I suspected. When it comes to “Anions” and “Cations”, I’m lost – but will share this with my new private nutritionist (out-of-pocket money) – he is a voracious learner, and he has worked with about 1800 CF patients over the past 20 yrs… he’s just never worked with one diagnosed as old as I am (mostly kids and teens). Thanks for sharing!!

[Jeanne]

@Tim Blowfield, you mentioned “osteopenia” above. Do you have more info you can share? I am having a very tough time with my back (and finding it quite hard to chase doctors, PT and just self-care for it whilst I navigate all the CF ‘stuff’ I have going on!). IS there a CorreLAtion? Because for me, a recent cervical CT scan and thoracic xray are pointing to possibly osteoporosis rather than “just osteopenia”.

I had a bronchoscopy Wednesday, and all the coughing afterwards has shot my back into awful pain. Frustrating & hard to ignore pain emanating from the spine.

[Jeanne]

Tim, I will encourage my team. I have not yet reported directly to Vertex – do you recommend this? Also, there is a pharmacist at the Pharmacy from which I get my Trikafta who does active tracking, even phoning me periodically to ask how it is going, what side effects, and what “changes” I am feeling/seeing. I think that is quite good!

[Jeanne]

Hi back to folks on this thread, and hello to Barbara Harison. Barbara, nice to read your story. Your exercise description at 77 is inspiring to me. (I introduced myself above on Oct. 6th.)

I’m at just 3.5 months since diagnosis, so nothing seems to be stable. A few updates.

In terms of things pulmonary, a new CT scan of my lungs showed things worsening instead of being static. So I had a bronchoscopy yesterday which included taking some samples also out of some lymph nodes. Besides hunting for bacterial infection that they haven’t been able to find with induced sputum extraction, they’re also looking at the possibility that I have an additional pulmonary problem (such as pulmonary sarcoidosis).

And with my troublesome gut, after months of diarrhea (tested negative for bacteria), a GI is finally running a more complete test on me for pancreatic insufficiency. (Previously my CF team only tested for pancreatic sufficiency specifically WRT diabetes). My CF team did also find problems in my large intestine with stuff stuck in there (but not blockage) – but clearing everything out didn’t solve the diarrhea.

Let me just say that in my family we didn’t grow up talking much about poop – I endured my constipation in secret – and I still find it hard to write about it in a public forum!

[Jeanne]

Hello folks on this thread! First of all say that you guys might want to take a look at the thread called “late CF diagnosis”. There are a few people there reporting on track after, but I see that Sandra Moore is also there and seems like now her Trikafta experiment is done!

I just started week 8 of Trikafta. So many things have been evolving since my very recent diagnosis in July, that I don’t know whether Trikafta’s helping the right things or not. One thing that it does seem to be helping that’s of a lot of interest to me is a surprisingly rapid increase in joint flexibility of 3 fingers on my right hand which were badly injured in an accident in 2020. I am a pianist, and that accident and the seemingly permanent damage has been so hard for me to adapt to. And now, suddenly within the first 4 to 5 weeks of Trikafta, I got a huge improvement (I have been working on it consistently). The thought for how/why this could be is the thinning of synovial fluid. I also have more and better tears (not having the dry eye problem now) much thinner saliva (which my pillow and I find to be a strange problem at night). Overall the thinned saliva is better for my teeth, though.

I have some side effects but they’re not awful. I’ve had some awful itching but it’s calmed down and is mostly minor and tolerable. A few little eye infections but very short and quick, went away quickly with consistent eyewashes for a couple of days. Sometimes I have several days of excessively swollen sinuses without any other explanation. But then my sinuses are usually somewhat swollen anyway. I had headaches the first couple of weeks, but no longer.

I am definitely going to give the Trikafta more time and see how it goes.

[Jeanne]

Wow, Robert-Lane. Fascinating and strange how your allergy and asthma symptoms came and went in different times of your life. My allergies never take a hiatus! I really big congratulations on your 80th birthday! That is really something.

[Jeanne]

Thank you, Tim! I really appreciate the time you take to explain things.

[Jeanne]

William, thanks for your words of positive and encouragement. And everyone, HEY, I got a bit of good news on Friday about the pulmonary sarcoidosis: with my newest CT, it is stable compared to the last 3 scans that each showed “continued worsening“. I’m feeling better, too. I don’t have to go on the methotrexate at this time. I’m getting used to and more accepting of my new normal.

[Jeanne]

So glad you’re doing well on Trikafta – and your sister, too!

[Jeanne]

Tim, what does compound heterozygous mean?

[Jeanne]

Laura Lee, try this link from vrtx (who makes Trikafta). Vertex Pharmaceuticals | Medicines | Guidance & Patient Support (vrtx.com)

1) They can & will help estimate co-pays specifically for you. 2) They will have info about co-pay financial support.

You’re on private insurance – the foundation that helped me will not cover you. But the special pharmacy that Stanford CF Clinic uses had confidence that I would pay nothing or little, either via support from vrtx or the foundation –

for any folks on US Govt. healthcare, it is healthwellfoundation.org.

-jeanne

[Jeanne]

Hi, @Tim. thx for your aside comment “but not ‘got’ CF at that age”. I have found that some in my friends circle just cannot accept this, and somehow twist around what I told them and call it “adult onset CF”. It’s curious.