I Will Survive
Gloria Gaynor, Freddie Perren & Dino Fekaris 1978
If you have been affected by alpha-1 antitrypsin deficiency either as a patient or someone caring for a patient then you can add your name and possibly your thoughts here. Simply use the Contact Us page to send us your message.
When Carl-Bertil Laurell and his team first made the discovery that lack of alpha-1 antitrypsin could lead to emphysema, I wasn’t even a twinkle in my father’s eye. But within that same year, I most certainly would be, and soon afterwards was born into a world that still had no clue Alpha even existed. Apart from Carl-Bertil Laurell and his fellows, of course!
Neil’s StoryI was one of the ‘lucky-unlucky’ ones; I was unlucky to inherit both Z-genes from my MZ ‘carrier’ parents, but was lucky that I never showed any ill-effects until I was well into my forties.
Then the breathlessness started and sure enough, emphysema was diagnosed. I had a fantastically normal childhood, but looking back, if I’d known about my Alpha, perhaps there are a few things I would have done differently to protect my lungs, but who knew? Certainly not me or my parents.
I was also lucky in that it didn’t take too long for the real cause of my emphysema to be discovered when the time came; weeks, in fact, whereas many folks still take on average seven years to get the discovery made, and many fall prone to the all-too common misdiagnosis of asthma in earlier life, with nobody looking further until it’s far too late.
I was also lucky that I managed to find a charity in the UK giving a talk on this condition, just down the road from where I lived, in the very same month I was diagnosed! They have helped me learn the things which Laurell and his team learned all those years ago, and a lot more besides. They even put me in touch with people who have actually worked with and shared memories with Laurell himself – people I could never have hoped to meet or discover on my own. Together, they have taught me how to fight to raise awareness; they – and my two young sons, one of whom was born just before I was diagnosed, and one soon after – give me the reason to keep fighting, to keep raising awareness, and to learn how to look after myself with this condition. My boys are both MZ carriers of Alpha themselves, of course, so I have much to teach them.
There is still much for all of us to learn and much more left to do. Many mountains must be built on the bedrock that Carl-Bertil Laurell discovered; many clarion calls must be made from those mountain-tops, to make sure the world really knows about Alpha, and properly so. It’s time that Alpha came out of the darkness and into the scope of ordinary people’s awareness, like so many other genetic diseases and conditions, some of which are far rarer, but still more widely and well-known than Alpha. We must change this.
It’s time the work of the medical community that Carl-Bertil Laurell inspired was recognised, given prominence and assisted in its quest to cure this condition once and for all. Fifty years ago, Carl-Bertil Laurell shone a light into the darkness and found Alpha. We must carry that light as a torch, and spread it round until it has illuminated all the dark corners of ignorance in hospitals, doctors’ surgeries, and drug-licensing organisations in every country where Alphas live. And what’s more, we will. If you’re reading this, you’re already helping. Take the torch and pass it on.
Happy birthday, Alpha!
Carer for an Alpha
For hundreds of generations the condition had no name. In 1963 it received the name Alpha-1 Antitrypsin Deficiency. Now after 50 years of brilliant medical detective work in the laboratory the focus is shifting to effective and available treatment in the real world. We can all help to make this happen.
John W Walsh
co-founder of the Alpha One Foundation
Just to let you know I am a PIZZ diagnosed in 1990 at the age of 43, I wish I had known early in life.
Chairman, Alpha-1 UK Support Group
John’s storyMy name is John Mugford born 5th Oct 1951 married to Sheila (40 years) with three sons. Most of my family suffered with respiratory problems especially on my father’s side which in those days was diagnosed as Asthma. I was no exception as were my sister and brother who were also diagnosed with asthma from childhood. During my late teens to late twenties in the 60’s and 70’s I smoked as did many others as it was the “in thing” to do. It was during this time that my breathing problems worsened and I contracted pleurisy. I was referred to a specialist in 1978 and was diagnosed with early signs of Emphysema, the consultant said to me if I continue smoking I would be dead before I reach 50. Well, that was the wake up call I needed and fortunately I managed to stop smoking immediately. However, the problem did not stop there, my part time profession was a musician in a cover band playing in clubs and pubs up and down the country which lasted for 30 years and, you’ve guessed it, the dreaded passive smoking continued to make my condition worse.
In 1999 I contracted double pneumonia and was in hospital for a week and off work for 2 months after which I had a follow up visit with my consultant. I had various blood tests and was asked to return for the results where I was told I had A1AD. My consultant went on to explain about, rare condition, genetics, blood disorder and damage to lungs etc which at that time did not really sink in as I am sure it doesn’t with most people. I took note of what I was diagnosed with and decided to surf the net which confused me even more as there was not much information available then and what I did manage to find was far too technical to understand.
Two years went by and after much confusion and surfing I came across the Alpha-1 UK Support Group which I joined and looking back it was the best thing I ever did. The support from this group was outstanding and I learnt so much more from them than I did from any GP or Consultant. Shortly after I joined this group I was referred to Professor Stockley at ADAPT in Birmingham who specialises in A1AD and it was confirmed that I had the more severe form of the condition PiZZ. My wife was also tested and she was normal PiMM which meant that all our three sons were carriers PiMZ.
In 2004 I contracted pneumonia again with a further stay in hospital and another 2 months off work. My health was deteriorating to the extent that I was finding it difficult and sometimes impossible to continue with my job working as a senior manager for a Japanese electronics company involving world travel. In the interest of my health I decided I had no choice but to make the biggest decision in my life to give up work which I did on the 1st of January, 2006 after much consideration and many sleepless nights.
Since giving up work I have been involved in drug trials at ADAPT and in 2008 I joined the Alpha-1 UK Support Group committee, later in 2010 I was elected Chairman which now keeps me fully occupied and I enjoy immensely. Although my health has deteriorated in recent years, with the help and support from my family and the Alpha-1 UK Support Group, I have learned to live with my condition and still remain positive.