On 17 August 2019, my husband Colin Laybourne and our friend Rae Davies will be walking along the Llanberis Path to the summit of Snowdon, North Wales to raise much needed money and awareness of Alpha 1 Antitrypsin Deficiency (AATD). This is a lack of the protein alpha-1 antitrypsin (AAT) which is produced in the liver. The main job of AAT is to protect the lungs. A deficiency can lead to life-threatening lung and/or liver disease.
The charity Alpha 1 Awareness (www.alpha1.uk) is a UK Charity that Supports people with AATD. It is run by non-paid volunteers who are all either affected by Alpha-1 or have a family member who is. The volunteers have a real passion for the charity and for supporting people who are affected, their families and friends.
In 2014, I was diagnosed with AATD at the age of 47. For years I’d get breathless doing things around the house, walking upstairs, swimming and dancing. I thought it was because I was unfit. One day in 2012, while at work, a colleague said I must see a doctor about my cough. I’d been coughing for months and I’d been so busy at work that I just put it off. Additionally, at the time my mother was terminally ill with pancreatic cancer. In the September of 2012 I finally saw the doctor who sent me for an X-ray. The results showed I had severe emphysema. I was sent to Guys Hospital for further tests. I’d smoked when I was younger but not that much to warrant the damage to my lungs. I continued attending Guys for numerous tests. I was lucky to see a consultant who was aware of Alpha One and he did blood tests to see if I had the Antitrypsin Deficiency. In the May of 2014, my tests came back positive and my genotype was PiZZ which is the most severe type. I’m currently going through the assessment process for a double lung transplant.
If you would like to join Colin and Rae let me know and I will add your name to a (hopefully) long list of volunteers.
There is no cure for this disease. Although, in America and some European countries augmentation therapy is available. The infusions do help people and can slow down the illness. Sadly it’s not available in the UK.