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Written by Emily Stephens (she/her) for The Rising Womxn Zine
About 10,000 people in the UK are newly diagnosed with a lung disease every week. Approximately one in five people in the UK have developed asthma, COPD or another long-term respiratory illness. Half of them are currently on treatment for lung disease. (BLF)
Respiratory disease is one of the biggest killers in the UK, with the mortality rate in England in 2018 at 161 deaths per 100,000 population for men and 117 per 100,000 for women. (Statista)
One of the most commonly known respiratory diseases is asthma, a condition which currently has no cure – but can usually be controlled and managed with appropriate treatment, such as inhalers. Lung cancer is also more commonly known than other respiratory diseases, with approximately 39.8 thousand new cases of lung cancer diagnosed in England in 2017. (Statista)
There are a number of lesser considered respiratory diseases, such as emphysema and COPD. Around 2% of the UK population live with diagnosed COPD, but research shows that this number is growing. In the last decade alone, the number of people who have had a diagnosis of COPD has increased by 27%, from under 1,600 to nearly 2,000 per 100,000. (BLF)
Disabilities, lung disease included, can have a damning effect on overall quality of life, and this can be a particularly harrowing thought for new parents.
Alison Wood (she/her) is a sufferer of Alpha-1 Antitrypsin Deficiency - an extremely rare, inherited genetic condition. It affects around 25,000 people in the UK and is passed on through family lines. As the name suggests, it is a deficiency of alpha-1 antitrypsin (AAT) in the blood stream. AAT is an enzyme that is produced in the liver and helps to protect tissues of the body during infections. The low level of AAT in the blood occurs because the alpha-1 antitrypsin is abnormal and cannot be released from the liver at a normal rate, which then leads to a build-up of abnormal AAT in the liver. This can cause liver disease and a decrease of alpha-1 antitrypsin in the blood stream that can lead to lung disease. In people with Alpha-1, there is a fault in the gene that is on chromosome 14. This fault causes AAT to be misshapen and it has been discovered that the molecules of protein stick together to form polymers. This malformed protein then becomes stuck in the liver and cannot get into the blood stream. (alpha1.org)
Sufferers of Alpha-1 are at a high risk of developing severe emphysema, often in their forties and especially if they smoke, and this is by far the most common disease caused by the deficiency. Being diagnosed with Alpha-1 means that the sufferer has inherited a faulty gene from both parents, so that both chromosome 14's have the faulty gene. This was the case for Alison Wood who was diagnosed with the rare condition back in 2007. She now suffers with Emphysema and Bronchiectasis and has a significantly reduced quality of life as a result. 'Having Alpha-1 has a big impact on your quality of life. Everyday activities such as dusting and cleaning, and taking a shower leave me breathless'
Alison's late brother, Paul, suffered with asthma as a child which affected his health. At the time doctors had just started researching alpha-1, so the whole family were tested, including Alison who was aged 4 at the time. Both Alison's parents tests revealed each was a carriers of the faulty gene, Paul inherited a faulty gene from both parents and was diagnosed with the full alpha-1 deficiency, their eldest brother David inherited no faulty genes, and Alison inherited one faulty gene and was diagnosed as a carrier only. Due to the lack of knowledge surrounding Alpha-1, a misdiagnosis of asthma is very common, meaning that sufferers are not receiving management for alpha-1 early enough to try and prevent the diseases and illnesses caused by the deficiency before they do severe damage to lung function.
Alison was later re-tested at the age of 38 due to recurrent chest infections, and she was diagnosed with the full deficiency. 'At the time of my re-testing, my youngest daughter was three and my oldest was ten. Being given my diagnosis was very daunting, especially because my girls were both so young, and as a mum there is so much you want to do with your kids, especially your daughters. I was told that I wouldn’t be able to see them grow up, get married, have babies if I didn’t stop smoking– it was a horrible time. I quit smoking that day. My late brother Paul, who sadly passed away in 2014 while receiving a lung transplant, also had Alpha-1. I had seen how the disease made his quality of life reduce rapidly, and I was worried that my health was going to decline at the same rate.'
Although Alison can still get about, her 38% lung function makes it incredibly difficult for her to complete day-to-day tasks, 'I struggle to do everyday household chores such as bending to load the washing machine, vacuuming or carrying things around, especially after shielding since March due to COVID-19, I haven't been exercising my lungs as much as I should have, which I feel has made it worse to get about.'
We asked Alison what it was like as a mother of two to have such a limiting disability, 'It's heart-breaking. You can't do things with your children that other parents can, like play sports, take them swimming, even going shopping. With the girls being so young when my health started to decline, they couldn't understand why their mum couldn't do the same thing with them that their friends' parents were doing, and that's what I found the hardest.'
'As a mother with two daughters, the thought of my disability getting worse as they grow up is sad for all of us, so we try not to think about it too much. It's hard as a mum, as you always want to be there to protect them, no matter how old they are, and seeing as my disability will become worse with time, it's just hard to know that I can't help or be there as much as other mums can. Both my daughters have been tested and are carriers too. There is not enough research or evidence to prove or dis-prove whether smoking affects carriers, so it is imperative that neither of them put themselves at risk by smoking'
When asked about the impact Alison's disability has had on her daughters, she said, 'when they were younger, naturally they didn't really understand what was going on. All they knew was that I would get out of breath when walking or doing activities, but my disability wasn't as bad back then. Now, especially after my brother, their uncle, passing away from the same illness, I think they understand the severity of it. It has definitely been difficult for them both during lockdown, as I am classed as clinically vulnerable so the whole family has been shielding to keep me safe. They haven't moaned about it once; they're really understanding about it like that.'
Alison is currently on a trial with the QE Queen Elizabeth Hospital in Birmingham for a new drug that is hoped will slow down the progression of lung damage. If this is proven, then it may get licenced to be used in the UK. The results of the trial won't be out until late 2021 but there is no guarantee that it will be approved for use in the UK. There is currently a drug licenced in other countries that slows the progression down, but the cost is too much so has not yet been licenced in the UK.
Alison had one piece of advice to pass onto other mums who may be struggling with a disability, 'try not to get too wrapped up in what may happen in the future, take every day as it comes and enjoy every moment with your children, no matter how big or small. Always focus on creating memories that they will cherish for the rest of their lives, even if it's the simplest thing like baking together or watching a film. Also remember not to be too harsh on yourselves when you can't do things that others can - it doesn't make you any less of a great mum, we're all amazing in our own way!'
For more information and support on being a parent with a disability, visit: http://disabledparentsnetwork.org.uk
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