Alpha-1 Antitrypsin Deficiency: Bridging Care
Transcript: The lived experience of AATD
Margaret Millar
All transcripts are created from interview footage and directly reflect the content of the interview at the time. The content is that of the speaker and is not adjusted by Medthority.
- Hi, my name is Margaret Millar. I was born in Scotland in 1963. My father was a tradesman, and my mother was a housewife, and my father was diagnosed, had a very bad chest. And the doctors said to him, "Go to a dry country, it'll be good for your chest." And we, as a nucleus family, decided to go to South Africa. The first signs of AATD in our family started with our older sister who started getting these awful boils, or, and we had no idea what it was. And for many years there were just slicing and packing it. And she suffered terribly through the years. Nobody knew what it was. I think this was in the early eighties. And going forward, she moved to the United Kingdom, and there were still no diagnoses for the skin condition, but she was diagnosed with alpha-1-antitrypsin deficiency. Of course, we had no idea what it was. I had no knowledge at all. And eventually, my mother went over to South Africa, from South Africa to the UK because Joan had landed up in hospital in London, the UK, and she was extremely ill. And so I flew from South Africa to go and see my sister in the UK and it was the most horrendous experience anybody can go through.
The panniculitis is the most terrible aspect of alpha-1-antitrypsin deficiency. She passed away in the two weeks in hospital, just before her 40th birthday. And they told me that I needed to be tested. And at the time I thought, "There is no way I can be this severely affected." So I got the test done and I went back to South Africa and I waited for the results. It took some time. Very nervously, I opened the envelope and to my absolute horror, I was also ZZ. So I knew that was not good. And I went on with my life and I tried to ignore it. But once you get the diagnosis, you really cannot ignore it. So I thought, "This is not gonna affect my life. I'm going to continue and it's not gonna affect me." Well, yes, it did. I ended up closing my office and I went sailing, and I sailed for quite a number of years, and I decided, "Right, I've got to settle down and get back to some, you know, reality." So I immigrated back to England and I had some family there. I have a sister, she is MZ, and I saw a professor at the Groote Schuur Hospital in Cape Town. He formally gave me a letter as well, explaining a lot. Anyway, back in the UK my health just deteriorated. I started getting back-to-back chest infections. I was put on antibiotics, strong antibiotics. Eventually, some of the antibiotics weren't working. And eventually, I was put onto steroids and going from COPD one, two, and probably going into three is the most awful experience. You're coughing a lot.
The steroids are absolutely horrendous with bloating and et cetera. Anyway, I did my best to try and get treatment in the UK and I just, it was just impossible. I did everything possible, not just for me, but for all the other alphas in the UK. And I decided the best course of action was to immigrate to Canada, which I did. And within two or three months, I was put onto protein plasma therapeutic. And I was very happy and it saved my life. Within three treatments, I could feel the inflammation leaving my body. I could, I actually felt like a deflated balloon. And I was so happy because I was so uncomfortable with all this systemic inflammation in my body. I was literally blown up like a balloon. And it just started subsiding and subsiding, and I could actually feel my whole body relaxing. And so it saved my life because the circumference of my waist was almost over one meter. And that went back down over time, over a couple of months. Over five or six months, the circumference of my midriff was about 50 centimeters or less. And that, you know, I must have had an enlarged liver. And eventually, I did go to the transplant for a double lung transplant, in Vancouver, Canada. And that was in October, 2021. And since then, my breathing is 100% and I'm so grateful and thankful to be here.
I'm so thankful for the doctors, and Canada, to have a second chance of life. People living with AATD underestimate the value of taking good care. How important lifestyle is, to exclude all the toxins, alcohol, overeating, obesity, all the known bad foods, deep fried foods, fast foods, and sugar. Because I have seen this personally myself, with good lifestyle choices, your health definitely improves. One thing that alphas need to know, and physicians, is that your health condition can greatly improve with good lifestyle choices, for sure. The Canadian pulmonologist and the care we get in Canada is second to none. I cannot fault it. I am sitting here as a living example of taking somebody with 20% lung function straight through to 100% being healthy. And I can only describe the healthcare, the professors, the doctors, the transplant teams, the pulmonologist and respirologist specialists and everybody collaboratively working together has been a wonderful experience. And I cannot thank them, thank them all from the bottom of my heart. You know, we are not looking at the alpha-1 patient as a whole. The pulmonary and hepatology have got to come together and look at the patient as a whole because the hepatology bleeds into so many different disease comorbidities. And these all need to be looked at. For example, in the MZ cohort, just with rheumatoid arthritis, you know, you can deduct that the lack of antitrypsin is causing the liver disease and also the cellular matrix is unbalanced. And this causes many comorbidities that, or extrapulmonary comorbidities. And I think we're missing a big chunk, for example, rheumatoid arthritis, in the AATD global community is striking. ZZs have actually zero rheumatoid arthritis. There might be anomalies here and there, whereas the global population of MMs is 0.022% of the global population and MZs are 0.042%. And I'm guessing that some of the undiagnosed in the general population with rheumatoid arthritis would probably be MZs as well. So, this for the whole marketing industry, for the medics, statisticians, this shouldn't be overlooked. What I would like to see in the global alpha-1-antitrypsin patient field is for the global communities, the scientists, the medics, the patients, to be one, to come together as one.
There's no point in fixing one country. We need a cure because this goes far beyond pulmonary, hepatology, gastroenterology. There are millions. I'm just one person. But there are millions of people, patients, and their families, including the MZs. The one thing that I wish I knew earlier on was that I will go to transplant, lung transplant. I think that's the one thing that I would like to know, because even up until two or three years prior to my transplant, I was like, "This is not happening." So it's always a case of being in a bit of denial, maybe hopeful thinking, but that's when I expect that, you know, hopefully we can solve in the future with the cure for alpha-1-antitrypsin deficiency.
Developed independently by EPG Health, which received educational funding from Takeda, awarded to EPG Health to help provide its healthcare professional members with access to the highest quality medical and scientific information, education and associated relevant content.
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