hi everyone i have had a new cf diagnosis which was not expected

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petrides

Guest
hi everyone my name is alex i am 27 and from england

i hope everyone is ok.

i always suffered from really bad sinus problems and in the end had a cat scan which revealed polyps, cf trait apparently,i do have a cousin with f508 of both mum and dad,i had a sweat test which came positive and was found to also carry f508 and a 2nd mysterious gene i had everything checked no problems in fact my health is getting better lung function and fitness improving with age,i have never been ill with flu dont really get colds,infact iv never been off work due to any illness,since the age of 17 i have worked in the fitness industry i teach classes,and i am a personal trainer,i train most days and have played rugby to a high standard.

i have been told that its rare the cf clinic said that in most mild cf would have shown up i.e id have repeated chest infections etc and they said what i have is a cystic fibrosis related disorder,and not to worry, my concerns are and id like to hear off other people here about how they were diagnosed later on in life or through something related to cf...i dont understand why it only affects my nose etc ...i am having a fertility test soon...

apologies if i sound ungrateful as i know there are people where the cf is more agressive and my cousin who has had a lung transplant.

kind regards alex
 
Simba15

Simba15

Member
I was diagnosed at age 50 and broke down sobbing in the doctors office. I know how you feel. It depends what your gene mutation is. If you have two delta f508 s you'll be sick. Sounds to me like you have a milder gene. That's what I have. I believe I will live to be very old.
 
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petrides

Guest
F508 and an unkown 2nd gene,i feel in great health and i am very very gratefull i am,i suppose im fearfull as i do not understand to much about the 2nd gene or will it get worse
 
J

JustaCFmom

New member
Why is the 2nd gene mysterious? Can you do a full genetic screening? You may qualify for some amazing new drugs available to almost "cure" CF. It is worth digging deeper.
My son, aged 21, was only diagnosed (last year) because of his sister. He has awesome lung functions and is in great shape. No doubt your high physical fitness has done you well.

Being diagnosed is a big gift. You get top medical care and direction. My children's health has improved immensely with this diagnosis. My kids say I could give lectures on CF at this point :) Knowledge is power and this forum has been an immense source of information for me.

Good luck and you can search for threads and information about CF and exercise. I have no doubt that that is a big factor in your overall well-being
 
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kgfrompa

Guest
I was 50

I was 50 when I was diagnosis and have been sick off and on all my life .I have a mild case but I have a port in and I am sick all the time my allergy are a large part But I get shots and take Flonase and zertec which helps.I want to welcome you and say I am so sorry for the news of CF .This has been a god sent as I have learned so much and get support when I need a place to under stand what is going on.There are many smart and caring people here and it makes me feel like I am not alone
 
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CrisDopher

New member
People w/ Cystic Fibrosis Related Metabolic Disorder have at least one CF mutation, sometimes (not always) two. The CFTR protein doesn't function perfectly in them, or seems to function fine in some areas, not fine in others. This is a new area between CF and carriers that is only just now being recognized. Sounds like you. If this is your diagnosis, you should still be seen at a CF clinic, as they are best equipped to help you handle what CF-type problems do come your way. Good luck.
 
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kmhbeauty

New member
I am similar to you also. I was dx at 15 for polyps in my nose and the nose doctor was the one who said I should get tested for CF. Parents had the test done twice because they did not believe I ha CF. Always been super healthy. I havnt seen the disease take much effect beside nose polyps and the last couple of years my lung function has gone down but at a very slow rate. Exercise is the key to staying healthy and is one thing that is missing in my life. With work, school, and a fiancé, it makes it hard to find time to exercise. Its my next thing I need to tackle.
 
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mumof1

Guest
Hi Alex
Its great to hear from a healthy cf-er. Excuse my ignorance, but how do they treat the nasal polyps?
mumof1

i have a 15 year old cf son with deltaF508 currently in hospital having a tune up
 
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petrides

Guest
Hi everyone and thankyou for the replys im very gratefull

i am going back to the cf clinic in 2 weeks i have a few more questions which id like to share....they said i have 2 cf genes but how do they know there is a 2nd if they dont know what it is?i have read that some who are classed as carriers have symptons aswell.

When i look back i see red flags i did have an x girlfriend who we tried for 2 years to have a child,lucky enough it did not happen and when i stop being active my body doesnt feel right.

And mayby my continued good health might be due to the fact its in my other genes or mayb the fact that i have always done everything i can to stay healthy since a young age, nutrition, training and taking things in life with a pinch of salt negativity is the enemy...i teach that insanity bodypump circuits i swim i run i weight train all that sort of stuff most days...iv never been a drinker or smoker and played rugby from around 6 up untill recently...

,this has just made me more determined to work harder for my health tbh.



I
 
P

petrides

Guest
Hi everyone and thankyou for the replys im very gratefull

i am going back to the cf clinic in 2 weeks i have a few more questions which id like to share....they said i have 2 cf genes but how do they know there is a 2nd if they dont know what it is?i have read that some who are classed as carriers have symptons aswell.

When i look back i see red flags i did have an x girlfriend who we tried for 2 years to have a child,lucky enough it did not happen and when i stop being active my body doesnt feel right.

And mayby my continued good health might be due to the fact its in my other genes or mayb the fact that i have always done everything i can to stay healthy since a young age, nutrition, training and taking things in life with a pinch of salt negativity is the enemy...i teach that insanity bodypump circuits i swim i run i weight train all that sort of stuff most days...iv never been a drinker or smoker and played rugby from around 6 up untill recently...

,this has just made me more determined to work harder for my health tbh.



I
 
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JoeyZ

Guest
I'm 21 and was diagnosed when I was 17. My parents initially cried a lot and it seemed very sad. But then the doctor said she was baffled I was still kicking after 17 years of not being properly diagnosed. I don't know what mutation I have but as it turns out, I only have half the CF genes, so it's not as bad. My lung capacity at the moment is 97% and I'm doing well.

Initially I was misdiagnosed with Celiac disease and allergies, but then turned out to be CF.

I do need to take my treatments and everything, otherwise I return to that terrible state where I could barely breathe, I couldnt speak 5 words without coughing, and I had diarrea almost everyday.

Today, I'm lead singer and guitarrist in a punk band, I practice parkour and Tang Soo Doo and study videogame design, where I'm at my third semester.

I may have a milder version of CF, but I do hear stories of kids and adults battling endlessly with this horrible disease. Every 3 months I go visit my doctor, which is at a special CF clinic in Houston. So Its quite a drive from Colorado.
All the patients sitting in the waiting room have CF, and seeing them with oxygen tanks and fragile bodies just makes me damn sad. So I'm grateful I'm a healthy guy now.

I have a cousin that runs marathons in New York and she recently ran one for the CFF. I'm really proud of her because she also donates to the CF foundation.

So I do comprehend the hardships and difficulties CF poses.

Lets all try and beat it!
 
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MichaelL

New member
Hi Alex -- sorry to hear about your diagnosis. As someone already said above, it's better to know so the doctors can give you more appropriate treatments for CF.

I was diagnosed at 34 after a long series of lung infections that weren't clearing up. Once they knew I had CF, they gave me different meds and I started feeling better right away. My mutations are F508 and 3849+10kb C->T, which generally do not show up with a sweat test. Also, I am pancreatic sufficient, which leaves me with mainly lung and sinus symptoms. It sounds like this may be the case for you as well.

It sounds like you're a very active person. This is great -- exercise helps keeps your lungs clear and lung capacity up. This is important for long-term health.

Good luck with your next clinic visit. You should ask as many questions as you have to learn more about your case.

Cheers,
Michael
 
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