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I have been fascinated by how many of my ancestors may have had genetic conditions that were passed down through generations and are still present in my immediate family. I often wondered whether I could find any evidence of which branches of my ancestors the conditions came from. One, in particular, Alpha-1-Antitrypsin Deficiency (AATD) which can cause severe lung disease and can also affect the liver and immune system is present in our family today. Information in the 1970s when we were first diagnosed was limited, but thankfully, since then, more research has taken place and the care programs offered today help to educate sufferers to enable them to manage and maintain the disease as best they can so that wherever possible, the slow down of its progression is achieved. November is Alpha-1 Antitrypsin Deficiency Awareness Month, hence why I have included this in my blog post. Although there is no cure for the condition, there are certain lifestyle changes and precautions that people can take if they are diagnosed early on, to ensure they do everything they can to limit the effects this disease can have.
It is important for me to point out that I am not a medical professional so the content of my blog is based purely upon my own experience living with the condition, and through the knowledge, I have gained. To find out more, you can visit the British Lung Foundation website at https://www.blf.org.uk/support-for-you/alpha-1-antitrypsin-deficiency and there is also a UK Support Group of which I'm a member that provides huge support to sufferers, which you can find here https://alpha1.org.uk/
So why am I so interested in this and what has it to do with my Family History? Like any typical genealogist, I want to know everything from the names of my ancestors, to where they worked, how they lived, hair colouring, characteristics and traits, and of course how old they were when they died and what was the cause. Both my parents were diagnosed as carriers of AATD, and both I and my brother Paul inherited the full deficiency, whereas my eldest brother David didn't, which shows how the genes we inherit can be likened to Russian Roulette. Paul's lungs were so severely affected he sadly lost his fight just seven years ago when he was only two months off his 50th birthday. Paul is listed in the 'About Us' 'In Memoriam' page on the Alpha1 Org Site, here https://alpha1.org.uk/in-memorium/
My parents don't know which side of their family they inherited this from, so to understand this we have attempted to remember what sort of ailments my grandparents or their parents may have had, and what information is given on death certificates such as ages and cause of death. I have acquired mounds and mounds of death certificates over the years for my direct ancestors, and their aunts, uncles, cousins, and so on - literally as many as I can get my hands on to try and piece this jigsaw together.
My mother's maternal Great Grandfather, Samuel Greatrex, died at the age of 64 and the cause of death was registered as cirrhosis of the liver. AATD does cause liver problems so could this have been connected, although he was also a publican so may have had a healthy appetite for a tipple or two in his lifetime which may not have helped! So does this indicate AATD on this side? I am not sure.
A few ancestors died of TB but again that was typical of the times they lived in, so again may not have been related. Some had bronchitis which if diagnosed now may have shown up AATD related and diagnosed with a more specific name as knowledge and science progressed, such as emphysema or bronchiectasis, but I just don't know.
My paternal Grandmother (pictured front right) died of lung cancer at 61, and although lung-related probably wasn't caused by AATD, more likely I'm guessing, due to a cancer gene. My paternal Grandfather (front left) died of double pneumonia at the age of 51, which could have been due to an AATD related condition. One of my grandparents passed the faulty gene down to my Dad, but if they were carriers only, may never have had any symptoms caused by AATD.
One avenue I am now exploring for help is DNA matches and whether this can provide anything that gives a hint to which of my cousins and immediate family may share the condition, and so give the answer to which side of the family it came from. This will be by either asking DNA matches directly whether they have anyone in their family with AATD, or asking anyone who has taken the DNA test provided by MyHeritage, and who has opted for the health report, whether this shows whether AATD has shown up on the potential genetic conditions. This was spot on for my family, the test confirmed I am at high risk of AATD, and both my parents are medium risk (confirmed by the fact they are carriers).
I am now working on a 'jigsaw' of all ailments across my ancestors' generations, to see if I can find common patterns of hereditary conditions, to see who was affected by what to feed both my curiosity and of course to complete their stories to try to maybe understand whether those who passed at an early age were the victims of their own lifestyles, the sign of the times they lived in or maybe a genetic condition they had no control over. Family History tries to uncover the story of each ancestor from the day they were born, to the day they are buried, and for me, this should include how they passed and medical history also.
In loving memory of my beloved brother Paul
who fought so bravely to the end
1964 - 2014
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