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Late CF Diagnosis
I used to believe I had a late CF diagnosis at 9 years old. But, as I’ve learned more and have met more folks, it’s becoming apparent that there are quite a lot of folks who were diagnosed much later in life.
The CF Foundation recently shared this post on Instagram of Patricia who was diagnosed at 67 — and it still shocks me to see such a diagnosis so late in life.
Are you someone who was diagnosed later in life? If so, what prompted your diagnosis?
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31 Replies
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Luisa, I am also fascinated by stories of late diagnosis. It is so different from my own story (diagnosed at birth, having two older sisters with CF as well). It is all I have ever known. There wasn’t a day that I learned I had CF, the awareness was gradual yet somehow always there as well — which is interesting to think about! I’m so glad you asked this and hope that some of our forum friends will share their experiences here.
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Hi…. I just became a member of this group. I was not diagnosed with CF until I was 46 years old. My youngest sister had a baby who was dx in the womb with CF. The doctors told family members to be tested if we had anyone who had lung issues or digestive issues.
My brother, who is 4 years younger than me, and I tested positive for CF. He had digestive issues and I had lung issues. I also had a brother who died at 6 months of pneumonia, which was probably CF also. That was in 1946 when no one knew about CF. Out of 5 children 3 of us had undiagnosed CF.
All of my life I had asthma, chronic bronchitis, and pneumonia. It would take me a long time to heel when I got sick. I constantly fought with doctors because I didn’t behave like a normal person!!
I switched to a Pulmonry dr. in my 30’s. He treated me for my lung issues. So, when I tested positive at age 46, he would not believe that I had CF because I was too old!! It took me a long time to convince him…with a lot of help from Johns Hopkins Hospital in Baltimore Md. I finally went to Hopkins full time, but I still continued with my pulmonary dr. in case of an emergency, because Hopkins is a 2 hour drive.
I am now age 77 and still doing well…am on Trikafta and dealing with some side effects. I hope doctors have learned not to say,”you are too old to have CF!!”
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Judy, what an incredible story! Thank you for sharing that with us. I’m glad you were able to finally get a diagnosis and also happy to hear that you’re doing well at 77! We talk about Trikafta and it’s side effects pretty frequently here. For all the great things it has done, some of us do struggle with it. I’m very glad you are here on the forum!
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I was diagnosed in 2007. I’ll be 76 this month. What prompted me to get the Ambry blood test was that I developed NTM. Also grew fungus in my lungs. Had lots of sinus and chest infections. And trouble with digestive issues, especially constipations. 2 fecal impactions. I can remember my grandmother giving me laxatives and ear infections and pneumonias. The Ambry showed 2 mutations. One was deltaf508.
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Hi Deanna. I was diagnosed with Mycobacterium avium-intracellulare complex in my mid twenties (I’m now 71) and was on medication for over 3 years. Luckily I’ve never had another flare up of this since then. Hope your infection is under control. I have never heard of the Ambry blood test but I’ll ask my CF doctor about it next time I have an appointment. Take care.
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My son was diagnosed via newborn screening in 2008. I’m a physician but I had to admit I didn’t know much about cystic fibrosis because it was outside of my field of practice as a Public Health Physician
As I read about traits of cystic fibrosis; things like changes on chest x-ray, pancreatitis, infertility in males, Etc… I began to think of my brother-in-law.
My brother-in-law had fibrotic changes on chest x-ray that they had blamed on his work at an aluminum plant. He had been diagnosed with asthma at an early age and had several pneumonias that were difficult to treat, attributed to his asthma. He also had aspermia due to congenital absence of the vas deferens.
I advised him to get checked out for Cystic Fibrosis. He refused for a number of years, but when he finally got a sweat test and genetic testing, he was double Delta f508.
He was 50 years of age at the time.
Late diagnosis are becoming more and more common because Physicians are thinking about it in older patients.
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My son was diagnosed via newborn screening in 2008. I’m a physician but I had to admit I didn’t know much about cystic fibrosis because it was outside of my field of practice as a Public Health Physician
As I read about traits of cystic fibrosis; things like changes on chest x-ray, pancreatitis, infertility in males, Etc… I began to think of my brother-in-law.
My brother-in-law had fibrotic changes on chest x-ray that they had blamed on his work at an aluminum plant. He had been diagnosed with asthma at an early age and had several pneumonias that were difficult to treat, attributed to his asthma. He also had aspermia due to congenital absence of the vas deferens.
I advised him to get checked out for Cystic Fibrosis. He refused for a number of years, but when he finally got a sweat test and genetic testing, he was double Delta f508.
He was 50 years of age at the time.
Late diagnosis are becoming more and more common because Physicians are thinking about it in older patients.
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@drwill this is fascinating! Thank you for sharing. After my sisters and I were diagnosed, my family also began to look at varying symptoms in the family. So far, any cousins or aunts and uncles that have been tested have not proven to have CF, but my grandmother is fairly certain that some of her relatives who passed away very young had it.
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That’s incredible! I am glad your brother-in-law had you to nudge him towards diagnosis. I don’t believe there are any known diagnoses in my family. And, to my knowledge I only had a great aunt (passed in the 80s) who demonstrated signs of CF, but of course no one knew why she had chronic lung issues.
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Hi everyone. After being sick with various health issues including chronic sinus & chest infections & digestive issues from a very young child & many times as an adult being dismissed by numerous Dr’s who quite often told me there was “nothing wrong with me medically” especially when I presented “outside the box” clinically, at the age of 48, I got Influenza A followed closely by pneumonia & weeks later became very ill with sepsis pneumonia & lung sputum samples found Pseudomonas. When I didn’t improve much even after treatment, my Respiratory Physician who had heard about late CF diagnosis at an overseas conference & (who had been my physician for 20 years & was treating me for asthma), decided to test me for CF & when I asked him why, he said it was because I ticked every box for late CF diagnosis. A month later this testing confirmed that he was right & I did have CF. Even though it was a huge shock & quite devastating for me & my family to find this out & come to terms with (my parents were shocked that until this point they had no idea they were both carriers), I at least finally had an answer as to why I had struggled with my health my whole life. And I’ll also always be grateful to my wonderful long time Physician for not only listening but “hearing” me & not dismissing me (like so many others had done) when I said I just still didn’t feel well after having the sepsis pneumonia & something’s not right with my health, but that he also said at that time that he believed me & promised me he would keep testing for various diseases until he got the answers we needed. And that’s exactly what he did & eventually that’s what lead me to getting the CF diagnosis & being referred to a CF clinic so I could get the best clinical care & treatment available. My mutation (R117H) CFTR on a 5T background was so rare that the CF Physician I was referred to (who had 30 years CF consulting experience) had never seen it before & on speaking with his overseas colleagues, we found out that at that time (7 years ago), I was only one of three people on the worldwide data base that has this particular mutation. I have often wondered if this could possibly explain why I always seemed to present so “outside the box” clinically & may have contributed to why it took 48 years for a Doctor to finally connect all the dots & for me to be diagnosed. Interestingly, my CF team have quite often said that I continue to sometimes present quite differently to other CF people they care for. My last 7 years have been quite challenging CF wise & I also have Scleroderma which also adds numerous health related challenges but I also feel grateful & blessed in so many ways & for many different reasons & I just try to live as fabulously & fearlessly as I can each day. Thanks for being interested in a late diagnosis experience. Take care everyone.
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Hi Bronwyn, thank you so much for sharing your diagnosis story. I am so glad your doc was able to get you a diagnosis — that is wild to hear you have such a rare mutation. Do you believe your scleroderma affects your CF related health (or vice versa)? Sending you good vibes!
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until DNA was found … late diagnosis was not possible.. which is why so many of we the late diagnosis due to rare CF genes were not diagnosed. It is because I suddenly had aspergillosis grow in me.. then bronchiectasis was diagnosed, ignoring all the childhood and adult issues with sinus and lungs… it was the continual lung issues that I found UNC is a leader in Bronchiectasis.. the doctor there told me I had CF and needed to be tested. Upon returning to Atlanta .. yes indeed I have CF .. later my sister was diagnosed. It has been extremely difficult to deal with at this point.. no information on old people.. yet I am constantly now short of breath and feel as if I have been in a marathon. I have difficulty accomplishing minor chores. I don’t know what I can do to help myself and I get nothing from the CF Doctors I see. It is hard to fight off depression and sadness. I find no information on people like myself other than they were discovered to have CF… no prognosis.. no help.. and I would never give a penny to those who care nothing for folks like myself.
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Hi Stacy! Yes, I think identifying the CF gene has certainly helped in diagnosing more folks who are older. I hate to hear that you’re having so many frustrations with your care team — where is your CF clinic? Are you able to see another team?
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I was diagnosed with CF 3 years ago when I was 68 years old by the Northwell Health Adult CF Center. I’ve had Bronchiectasis my whole adult life. My pulmonary doctor at Mt. Sinai Hospital asked me to partake in a research study and it was at that time (in 2007) that they found the G542X gene. Then in 2012 I had a bout of pancreatitis and none of my doctors could identify the cause. My internist recommended I test again and they then found I had the D1152H gene. After I had some weird stomach issues in 2019 my Gastro doctor at Northwell recommended I get an appointment with the Adult CF Center. They immediately said I had CF with pulmonary manifestations and I went on Kalydeco and Cayston for pseudomonas. Note that I tested negative twice over the years on the sweat test. I had always coughed up green sputum (various colors of green depending on how I was feeling). The Kalydeco immediately lessened my cough and sputum to a minimal amount. Last year I switched to Trikafta and my cough and light green sputum virtually stopped. I have more sinus issues and throat nodules now but I have a wonderful ENT doctor at Northwell who is monitoring me. I’ve always been a walker and try to do 2 miles most days if I’m not under the weather or too tired. Fatigue is something I do deal with but I’m lucky to have a very supportive husband and son/daughter-in-law. I try to stay as active as I can. I worked for almost 30 years for a major insurance brokerage company in NYC. Commuting to NYC was hard as I picked up so many viruses (way before Covid) and getting over a cold took a good month. Luckily to date I haven’t gotten Covid even after my husband got it in May.
I hope everyone stays safe. -
My wife was diagnosed in 2009 aged 67 – now 80. I did hear of a lady in California diagnosed at age 94 after her 59-year-old son was found to have CF. Now that is a LATE diagnosis!
Late diagnosis – but not ‘got’ CF at that age. Many have shown symptoms all their life – oft diagnosed as Asthma. And asthma they had as the word asthma simply means “difficult breathing”
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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.
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Hi, All. I will comment more soon – but so interested to read this thread! I am 67, and just diagnosed July 13th. Like others in this thread, health issues throughout my life that were persistent & problematic, but not “put together” until now. I live in California, in the area called the “Bay Area” near “Silicon Valley”. -jeanne- (when spoken, I go by ‘genie’)
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Yes; Shows a total misunderstanding of CF. I too dislike the term “late onset ” with regard CF as it really shows not just a misunderstanding but a lack of perception – Symptoms were present but just not seen. Sadly even CF physicians and doctors are not immune especially with regards to CF co-morbidities. These are too often dismissed without understanding that the faulty CFTR gene and protein may well be the cause. Often the blinkers are on as the Docs concentrate on the lungs. Every cell in the body has the faulty CFTR gene. What is it doing? Is it causing high Calcium ions in Parathyroid cells thereby causing Hyperparathyroidism and osteopenia? Or affecting the Adrenals causing Hypokalaemia and Adrenal Insufficiency? Or is it causing abnormal levels of electrolytes in muscle cells leading to muscle weakness including cardiomyopathy? Lots of Questions – so few answers and so few enquirers!
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Hey beautiful humans! My name is Travis Suit and I was diagnosed with CF last November at 37 years old. I’ve had minor symptoms throughout my life, such as digestion issues and mild mucous production. It wasn’t until my oldest half-sister from my Dad’s first marriage, LeeAnn, was diagnosed, that our family realized CF existed.
After my sister LeeAnn’s diagnosis at 40, my 4 year old daughter was diagnosed one year later. Then, my other sister Nikki, was diagnosed during her pregnancy. Nikki and I have the same two CF genes D508 and S1235R, my daughter Piper has Double D508, and my sister LeeAnn has D508 and D1152H.
It has been a strange and life transformative journey over the last decade learning about all the vast and variant expressions of this disease, and what that means to a family. It’s crazy to think about how many people could be living with CF and have no clue, and they are either being misdiagnosed or undiagnosed.
Thank you for this forum topic. It’s nice to share and read others’ stories. Sending my love and gratitude, Travis.
P.S. – We recorded an interview about our family’s journey with CF here: https://youtu.be/pLIFySheCQo
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Welcome Travis! I think it’s so interesting (and I imagine so difficult) that y’all had such a cluster of diagnoses! I agree, it is crazy to think of all the folks who have CF and aren’t diagnosed. Years ago it was almost unheard of to have a diagnosis later in life, but I am seeing more folks being diagnsosed.
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Hi again. @Travis – I watched just part of your family video so far. Very cool that you did that. I’ll watch more during my next home RT session 😉 .
To join into the convo about the CFTR genes, I have DF508 and c.-581G>A. The latter, very little is known about it. I guess some call it a “novel variant”. But my sweat chloride test is positive.
I was lucky to have incidental findings twice (2014 & 2022) in which a different xray or scan showed something in my lungs. In 2014, they did a CT scan and it showed issues (but not as pronounced as now). My regular doctor ordered one follow up in 3 months, but then dismissed it as inconsequential and probably “resolving”. I didn’t push back, and wish I had. This winter I had a spinal xray for some painful back issues I’m having, and from that the recommendation for a lung CT. This time it got a notable red flag and my allergist referred me to a pulmonologist right away. The pulmonologist ran extensive tests on me for bacterias and auto-immune diseases. One standard test panel included basic CFTR and it showed me as a carrier. (I had a great-nephew who had CF). Since medicine is evolving so rapidly, I looked up if CF is ever diagnosed in older adults, and there were lots of hits and articles. My pulmonologist hadn’t heard of this but was very open to and listened what I’d read about. He referred me to our area’s Adult CF Clinic, where I was evaluated, tested with complete gene sequencing for CF, and was diagnosed.
My GUT is, to me, my biggest problem (although I do now get shortness of breath… something I never thought would happen to me). For some years now I have been through a lot with my GI team. It all just kept coming back to a bad case of IBS-C. Well, it is, but I am sure now it is due to CF. The “C” of “IBS-C” had been a big problem since childhood.
I was a thin kid but ate well. As a teen, I just didn’t fill out. For the past 10 years, my weight has been gradually slipping, and the number of foods that just do not agree with my entire digestive track has gone up and up. I’ve shrunk to 5’2″ and my weight teeters at 100 lbs, even while trying my best to gain.
I got approved for and started on Trikafta just 4 weeks ago. I hope it will help my gut in time, and hoping for some weight gain. Trikafta quickly thinned my nasal mucus and saliva, which seems & feels so bizarre, after so many years.
I feel so dearly for those with CF who have “bad cases” of it. I really do… and I know I am “lucky”. But I hope also that there will be more education about late diagnosis… if my GI, allergist, ENT and primary doctor had all at least heard of it, perhaps I would have been diagnosed in 2014.
Overall, I am so glad to have an answer. Because I just knew that something more was wrong. -jeanne
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It’s fascinating to me to read these stories. Mine is so similar. Diagnosed a few months ago at age 58, so many episodes of bronchitis I can’t even count, multiple rounds of pneumonia, and currently a nasty sinus infection that won’t go away (going on 2 years now). I also so badly wish I’d been diagnosed earlier. Like many of you, I have legions of docs not believe my infections, dismiss my symptoms, tell me “no one is sick like you say you are”, etc. Even friends and family got exasperated with all the illnesses. It all would have been so much easier with some knowledge. BUT the good news is that I now have that knowledge, and treatments and prevention will be much easier to come by! I feel absolutely lucky to have found a wonderful CF doc who is easy to talk to, responds to my questions and needs, and is a great ally. I finally feel cared for in the medical system. It’s a new and wonderful feeling.
I am curious if anyone else here has dealt with a fungal sinus or lung infection? We’re pretty sure that’s what I have, and I have precious little info to go on.
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Hi Wendy, It is great that you are getting somewhere. Fungal sinus and lung infections are common in people with CF (pwCF). Infections are the most common problems but what of other co-morbidities? PwCF report so many other issues – Hormonal, (eg Hypokalaemia, Adrenal failure, hyperparathyroidism), Vasculitis, Pancreatic malfunction, Diabetes even Cardiomyopathy – many go unrecognised as Doctors concentrate on improving the respiratory disease.
Can you access Trikafta? Does depend on your gene mutation. If you can use it, it is likely to be a game changer. Apart from F508 there are at least 179 other mutations that Vertex has shown should respond.
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Hi Wendy,
Your journey both in the lead up to & after you finally got your CF diagnosis sounds so similar to mine & like you, I wished I had been diagnosed earlier but feel at least now we know, it enables us to get the treatment we need going forward. As they say…. knowledge is power! In response to your question regarding fungal sinus & lung infections, I thought I’d share my experience and hope it is helpful to you. I started having frequent sinus infections from around 18 years of age and just before getting my CF diagnosis 7 years ago, I started having strange fluid & blackish/brown discharge sinus discharge accompanied by severe sinus headache & was feeling very unwell. Saw my wonderful ENT specialist, who via a scope, saw that I had a huge fungal ball in my left sinus & after unsuccessfully trying to remove it in his rooms, he removed it under general anaesthetic & gave my sinuses a wash out at the same time & I felt so much better immediately after the procedure. The pathology showed it was Aspergillus. Because the fungal ball was able to be removed successfully, I wasn’t given any anti-fungal medication after the procedure. Initially after that, I didn’t have too many sinus issues for a while, but then five years ago, I began having frequent & severe sinus infections again that made me feel quite unwell most of the time & proved extremely difficult to treat & I would only get a brief reprieve from sinus symptoms & infections after each course of antibiotics. Unfortunately, I am allergic to Bactrim & Augmentin, which can apparently be quite effective for sinus infections so had to rely on other antibiotics such as Klacid, Ceclor & after my CF diagnosis, I was given Ciprofloxacin for it, which was a bit more effective than previous antibiotics I had tried, but again quite often, only gave me brief reprieve. My ENT recommended I also try using twice daily sinus flo powder washes to help keep the sinuses as clear of troublesome mucus as possible. Since my CF diagnosis, what we started to notice was that every time I got another sinus infection, (which caused severe pain & sometimes secondary swelling requiring Prednisone to reduce it), it would trigger & exacerbate my respiratory symptoms (from the sinus gunk dripping down into my lungs) & I would then develop another chest infection & once had pneumonia as well. When this pattern became more frequent & I required multiple hospital admissions for IV antibiotics etc, my ENT suggested doing minor sinus surgery to “open/widen” the sinus cavities to allow the sinus washes to be more effective in removing the sinus mucous build up. This gave me some relief for a longer period of time which we were pleased about, but unfortunately eventually the sinus infections began again & the same sinus/chest infection pattern started again & my sinuses would bleed as well. I then had more major sinus surgery & this time my ENT surgeon opened/widened the sinus cavity area even more and thankfully that was more successful & I was sinus/fungal infection free for a considerable amount of time (about 18 months) & I also then had less chest infections as well during that time which was great. For the past two years, I’ve had a couple of sinus infections again & for the past few months I’ve had that blackish/brown sinus discharge off & on again & a sputum sample pathology showed I had a fungal called Purpureocilium Lilacinum, which I was told was apparently quite common & usually doesn’t cause problems (but it seems to with me!). It’s likely that it was in my sinuses as well, but my sinuses weren’t swabbed at the same time). My ENT specialist has organised for me to have a sinus swab next time I have that same discharge & hopefully if we can identify any other fungal infections, we can try & successfully treat it with a more specific medication. My current sinus management treatment plan is: Twice daily sinus flo granules with an added nasal steroid once a day (Pulmicort Respules), twice daily hypertonic saline sinus inhalation (6% Hypersal) via a Pari Sinus System machine (which has been a Godsend in treating my sinus issues!) & my CF team also suggested we try Inhaled Colistin (antibiotic) into my sinuses via my Pari Sinus System, one month on, one month off. This treatment plan seems to be relatively effective in at least reducing the frequency & severity of my sinus symptoms & infections. Having a very caring, empathetic, highly skilled & ENT specialist who has experience & knowledge about CF related sinus problems, who is always prepared to see me any time that my sinuses cause problems, makes dealing with this a bit easier & I feel very fortunate to have him as my specialist. At each appointment, he always views my sinuses via a scope & clears out any troublesome/infected sinus mucous that’s there which always brings me relief and helps me to feel better. If at any time I have symptoms & his scope prevents him from seeing the possible area of concern, he gets me to have a Sinus CT which can detect fungal balls, absesses etc. Like you, due to my rare mutation (R117H/1210-34TG (12T (5), I’m ineligible for Trikafta, so unfortunately that isn’t a possible treatment option, but Wendy, I hope me sharing my experience is helpful to you in some way, as I know only too well how ongoing sinus/fungal problems can make you feel quite lousy. I wish you all the best going forward.
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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.
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Laura Lee, are you the US? I got financial aid for my Trikafta co-payments through a non-profit foundation. If you are in the US, and if you at first get denied through your health insurance, I recommend to then partner with your doctor and file an appeal. Don’t freak out about co-payment costs at the outset… get RX-ready, and then deal with making it an affordable option.
To US folks, my understanding is that if you are on private insurance, then Trikafta also has some sort of funding available. (I retired in March, so am on Medicare + a Part-D plan.)
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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.
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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
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Hi Tim. Thanks for the reply. I have 7T/7T mutations so am not eligible for Trikafta, though I just read today that it’s proving very helpful in clearing aspergillosis. I’m seeing my CF doc next week and I’ll be asking him for more help than fluconazole is offering me. It’s promising to hear that new information is coming out about co-morbidities.
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I wasn’t diagnosed with CF until was 64 years old. My sister died from CF when she was 21. We were both often sick with lung issues she was just sicker. I had scarlet fever when I was 5 years old. For years doctors told me I had chronic bronchitis, lung damage etc. It wasn’t until I finally got referred to pulmonary doctor at Santa Barbara Cottage Hospital and Genetic testing results were DF508 and R117H. I am pancreatic sufficient. I am 77 years old now and thanks to Vertex Trikafta and other regular nebulizer medications I am doing well. Lung function is not great but I swim laps, play golf and do yoga to get exercise.
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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!
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@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.
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Osteoporosis is well reported in pwCF. Usually considered to be the result of inadequate nutrition caused by poor intestinal absorption. That may well be part of it but I suspect that abnormal intracellular Calcium may be a big part. If Chloride is retained within the cells then it (an anion) needs to be balanced with high cation levels. Cations which include Calcium. In the Parathyroid Gland this may be expected to cause issues that may be expected to affect bone health.
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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!!
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Just a little knowledge of 1st year Chemistry – Think of anions and cations as things with – and + charges on them – and for a solution of them to work well the need to be in the correct proportion – balanced. If not balanced – then the cell does not work well. Too much of one such as Calcium (Ca) which is a cation, a +, and the cell may be expected not to work well. Too much Ca in Parathyroid cells may be expected to affect how that gland works likely affecting bone health. Similarly Ca, Potassium and Sodium levels may be expected to affect the way the Adrenal Glands work, and muscles too.
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