Awaiting diagnosis as an adult -some questions, please help :(

[Pixiepops]

Hello!

I'm 21, and have been suffering with bad chest infections, 'wet lungs' for about two years. In this time I've had pneumonia and just generally been run down, tired ect.

Eventually, i referred to a specialist, who kept palming me off with antibiotics, chest X-rays and ct scans....l I had a biopsy which showed no abnormal bugs. The specialist tried to tell me there was nothing wrong, even though I've been too ill to work for months, and I got mad and demanded answers....anyway, this led to her showing my ct scans and X-rays to another doctor, who pointed out I had bronchiecstasis (sp?) and suggested possible CF.

I've had the gene test done, and am scheduled to have the sweat test done in a couple of weeks, but the wait is so frustrating I just want answers, and no one seems to have any!

However, after googling CF" I'm not sure if it is something I could have, because not everything fits with my symptoms, so if anyone could offer any advice or insight I would be so grateful!

I've had severe rib pain for about three years... Normally in the right hand side, or it gets worse if I'm tired or have been sitting upright for more than about half an hour.
iVe always had really sweaty hands and feet - I know people with cf have salty sweat, but do they sweat more? I've started to notice that I do sweat excessively, especially on my hands, feet and legs.

I also have a normal bmi.... I know most people with cf are underweight, or have small frames....but I'm 'normal' - 5'6, and my weight fluctuates from about 8.9 stone -9.3.

 

[Beccamom]

Have you looked into PCD Primary Ciliary Dyskineskia or Alpha 1 Antitripsin deficiency? These can both cause Bronchiectasis too. Best wishes I was diagnksed with CF as an adult and feel so mich betger with proper treatment.

 

[Pixiepops]

Hello, no I'd not heard of either of those. Thank you, I'll mention it to my doctor this is the first avenue we've taken really, do any of the things I mentioned sound consistent with CF? Thanks so much for your help

 

[gunelle]

Hi, I was diagnosed at 32 with cf. I also have sweaty palms and feet. And I'm a bit overweight. So yes you could have cf, not everyone has the same symptoms. I also have bronchiectasis. But as mentioned this could be due to other illnesses as well. and i recognise that rib pain. Hope you get answers and help soon.

 

[Pixiepops]

Thank you so much x

 

[MichaelL]

The genetic mutations can indicate different severities of CF. You may have a subset of symptoms and still have CF. I was diagnosed at 34 after a long series of lung infections that weren't responding to antibiotics. I am pancreatic sufficient, which means I don't have to take enzymes. However, I have all the lung problems associated with the disease. Initially, my case was pretty mild. Once they knew I had CF, they put me on the right antibiotics and I was feeling better in a week.

I'm surprised they're doing a sweat test for you given they've already done genetic testing. Sweat tests suggest I do not have CF even though the genetic testing says otherwise.

If you have CF, you'll have so much to learn and it will take time to absorb it. Keeping away from the common bugs (e.g., pseudomonas, steno, etc.) is important for good health and longevity. I caught pseudomonas, which is what eventually led to my diagnosis. Exercise and treatments are also very important. The treatments are time-consuming and take time to adjust to.

I have had rib pain as a result of violent coughing. I've even fractured them, which is painful and takes a long time to heal.

When I got my diagnosis, I was relieved in some ways. As strange as that sounds, it was good to know what was wrong and get proper treatment after being sick for so long.

I hope your waiting is soon over.

 

[BreeAlysia]

To echo what the others have said, I was diagnosed at 30. I had bronchiectasis and chronic pneumonia. I went to doctors for ten years worth nof answers. Basically I would get diagnosed with pneumonia every 6 months. finally I went to a really good pulmonologist who dug deeper. My sweat test was negative, but he genetic test revealed cystic fibrosis. I have two different mutations. Stay vigilant and get a genetic test. Once you get answers you can stop further damage to your lung and feel better.

 

[Pixiepops]

The genetic mutations can indicate different severities of CF. You may have a subset of symptoms and still have CF. I was diagnosed at 34 after a long series of lung infections that weren't responding to antibiotics. I am pancreatic sufficient, which means I don't have to take enzymes. However, I have all the lung problems associated with the disease. Initially, my case was pretty mild. Once they knew I had CF, they put me on the right antibiotics and I was feeling better in a week.

I'm surprised they're doing a sweat test for you given they've already done genetic testing. Sweat tests suggest I do not have CF even though the genetic testing says otherwise.

If you have CF, you'll have so much to learn and it will take time to absorb it. Keeping away from the common bugs (e.g., pseudomonas, steno, etc.) is important for good health and longevity. I caught pseudomonas, which is what eventually led to my diagnosis. Exercise and treatments are also very important. The treatments are time-consuming and take time to adjust to.

I have had rib pain as a result of violent coughing. I've even fractured them, which is painful and takes a long time to heal.

When I got my diagnosis, I was relieved in some ways. As strange as that sounds, it was good to know what was wrong and get proper treatment after being sick for so long.

I hope your waiting is soon over.

hi, thank you for taking the time to reply I understand exactly what you mean about feeling relieved to be diagnosed.....as much as I don't want to have CF, having a reason for being sick will be such a weight off my shoulders, and I can't start to move forward. it's the not knowing that's taken over my life really.

Thank you all again

 

[Pixiepops]

To echo what the others have said, I was diagnosed at 30. I had bronchiectasis and chronic pneumonia. I went to doctors for ten years worth nof answers. Basically I would get diagnosed with pneumonia every 6 months. finally I went to a really good pulmonologist who dug deeper. My sweat test was negative, but he genetic test revealed cystic fibrosis. I have two different mutations. Stay vigilant and get a genetic test. Once you get answers you can stop further damage to your lung and feel better.

10 years? That must have been horrific! Glad you finally got answers, and thank you for the advice