Genetic link to emphasema

[carrina]

Thinking of my lovely mum today on my birthday .

My mum passed away in 2011 aged 69, twelve years after being diagnosed with emphasema . She also suffered with asthma and bronchitis for years. I remember her always coughing every morning and being out of breath in her 40s after walking some distance, she used an inhaler for years before she was diagnosed with emphasema. She was diagnosed with emphasema at age 57 , the same age that i was diagnosed with it. I am now 59 and the dr told me that my emphasema is genetic. I was diagnosed as moderately severe. I also have osteo arthritis and fibromyalgia ( mum had both ) We are so alike in many ways. I only hope and pray that i manage to be around longer than she was. It is a niggling worry of mine that i try to push to the back of my mind as i prefer to stay as positive as i can. Mum smoked until the day she was diagnosed but i stopped smoking 12 years ago when i could see how ill mum was becoming , plus i have never suffered from chesty coughs or breathlessness, asthma etc like she did in the past. So i am hoping that these facts are a bonus to me x

[Hidden]

Hi carrina, what a lovely photo!Have you seen a respiratory consultant?

Do you know if your Mum was A1A antitrypsin deficient? And if you have the gene?

This is usually the inherited reason that emphysema can progress so swiftly.

If you have not had this test insist to your GP that you have it. Also, insist that you are referred to a respiratory consultant at a good teaching hospital because of your family history with your Mum. There are people there who have far more training and experience in your condition than your GP. They will advise your GP of what they want your ongoing treatment to be.

We do have to act in our own interests to get the proper treatment and management.

Good luck.

[carrina in reply to Hidden]

Hi littlepom, thanks. I dont know about this A1A antitrypsin deficiency, all my dr told me was that my emphasema was genetic. I had the test where they measure your breathing when i was diagnosed and they gave me ventolin inhaler and that was it.

[Hidden in reply to carrina]

You have just had the standard puff and blow at the doctor’s surgery and on the back of that they presume to diagnose you and assume that it is genetic because your Mum had it.! The GP could not even name the genetic link!

The complacency of it truly makes me want to stick pins in my eyes!

Please do as I advise you and INSIST on a referral to a specialist unit at a good hospital.

[carrina in reply to Hidden]

Ive just called my dr surgery and asked about it. The Dr is going to call me back. I dont know if that deficiency would show on the scan i had that diagnosed me with emphasema ?

[Hidden in reply to carrina]

It is a blood test. Specialised units at hospitals deal with it and there are ongoing research programmes.

[carrina in reply to Hidden]

The very first sign of any breathing issue was when my husband died in 2016, the shock of it brought on breathing problems and it was put down as anxiety attacks. I was then sent to hospital 3 months later as breathing continued to be bad . They gave me an xray where they inject dye . The results from that were inflammation on my chest from my fibromyalgia . It went on for another year and wasnt feeling any better. So i was sent for a scan and was then diagnosed with moderately severe emphasema. So i cant remember any blood test that i had, giving the deficiency result .

[flicky1 in reply to carrina]

I only developed symptoms of emphysema after both my husband and my mother died within 18 months. I was not only grieving but totally worn out from caring. I had not smoked for 30 years and had had no chest infections since before then, yet I suddenly got several nasty infections and my symptoms developed rapidly. I am left wondering how much grief and other stresses contribute to the weakening of the immune system and the consequent effects on our long-term health

[carrina in reply to flicky1]

True. My fibromyalgia was diagnosed after my mum died. I think stress is a massive factor and can lower the immune system. I try to avoid situations that stress me out now.

[Hidden in reply to carrina]

It’s a simple blood test and I highly suggest you take it. I’m alpha one antitrypsin deficiency genetic type ZZ

[carrina in reply to Hidden]

My dr just called me . She is arranging for me to be tested to see if its genetic .

[Hidden in reply to carrina]

Great.

[carrina in reply to Hidden]

Blood test done today. Should have my results in a few days .

[Hidden in reply to carrina]

Do let us know how you go on.x

[carrina in reply to Hidden]

I shall do x

[hypercat54 in reply to carrina]

Testing for the gene is a simple blood test and can't be diagnosed without this. Insist on having the blood test and don't take no for an answer. This is totally wrong.

Another thing is if you have the genetic link it would normally show itself by your 20's and 30's at the latest especially if you were a smoker. I don't know how old you are.

The fact you have stopped smoking is fantastic and don't forget your mother didn't did she. There is nothing like smoking to accelerate the disease so I would expect you to live to a very good age if you take care of yourself. x

[carrina in reply to hypercat54]

I am 59 today and didnt have any symptoms till my husband died in 2016 ,

[oooodicky]

Nice picture of your mam rip.