Living with Scimitar syndrome
pharmafile | May 28, 2019 | Feature | Business Services, Manufacturing and Production, Medical Communications, Research and Development, Sales and Marketing | Scimitar syndrome, patient experience, pharma
Katy Baker has lived her entire life with the rare congenital heart defect Scimitar syndrome. She reflects on the system that treated her, how she has learned to live with the disease, and why it spurred her to advocate for patients like herself.
What is Scimitar syndrome?
It affects one in 100,000 people. It’s a congenital heart defect, which means that the blood from the pulmonary valve doesn’t drain into the right lung, so only the left lung works. So, it’s a heart defect, but only one of your lungs work as well.
How did you originally receive your diagnosis?
I was born eight weeks premature. I was kept in hospital for about six weeks just because doctors thought I was really small. I was only three pounds nine ounces, so doctors wanted to keep me under observation. About four weeks later, when I was about 10 weeks old, I caught a chest infection. My mum and dad took me to Surrey Hospital, which at that time was East Surrey Hospital, and the doctors found it was more than just a chest infection and they took me to the Royal Brompton, which is a specialist heart and lung hospital in London. The doctors there then found that only one of my lungs works; after a few tests they found out that I had Scimitar syndrome.
What have your experiences been like with the NHS?
A mixture really – mostly positive. Even if doctors don’t know what your condition is, they have been compassionate and supportive in wanting to learn more about it and being interested; I have had a few who’ve said ‘Oh, I’ve been Googling it all day’ or ‘This is my bedtime reading’. When I moved from paediatric when I was 17, I didn’t have a smooth transition at all. When I was transferred from the Royal Brompton to Oxford I had no help in the transition. You suddenly find you’ve been transitioned to a hospital where you’re being treated with people up to more than 50 years older than you.
Based on these experiences, what changes would you like to see made to the healthcare system?
I would like to see a transition pack: I would put in support leaflets from mental health charities, because physical and mental health have a strong correlation. I would also put in information about the new hospital and new ward that you’ll be going to, and how doctors there will help you. Also, doctors in general could be more aware of how vulnerable you can be and take a holistic approach to not just physical health but mental health, social anxiety – anything like that – to not just focus on physical illness.
How does Scimitar syndrome affect your everyday life?
I’m now 22, so I’ve come to learn my limitations; I’ve adapted so I don’t really notice. Today, I’ve just been to a therapy session because my lung function has affected my back, and now one side of my back is really weak. So I have to have chest, respiratory and back physiotherapy to try and strengthen them. I also have more time out of work and school, and I’m more susceptible to the flu and colds, but I think for me it affects my everyday life on the mental health side considerably more, because it’s so rare – it’s one in 100,000 people. Even though I’ve been lucky enough to meet some people with it too, you’re still on your own the majority of the time.
How did you get in contact with others who have the condition?
In 2013, my hospital in London put on a summer party. I went along and the charity who organised it said ‘this is Holly, who also has Scimitar syndrome’. She was only nine or ten at the time we first met and now she’s 14 or 15, and that was absolutely amazing. I still support her mum quite a bit. In 2016 I worked with a charity called Fixers who work with 16 to 25-year-olds to help them use their life experiences to encourage and help others. So I made a film with them about how I did trampolining, despite having Scimitar syndrome. And since then, I met one girl on social media who came forward. There’s also a Facebook page. Most people are from America, but there is one girl from Edinburgh and we’ve become very, very close. I try and see her as much as possible but obviously I’m here and she’s in Edinburgh.
What kind of work have you done in your patient advocacy?
I’ve spoken on Rare Disease Day a couple of times. In 2017, I spoke at Cambridge University and talked to medical professionals, patients and other organisations about how lack of research can affect young people. Last year, I went to Addenbrooke’s Hospital in Cambridge to speak to sixth-form students who are thinking of becoming doctors or healthcare professionals themselves, and also researchers about my condition and why compassion and support in rare diseases is so important.
How have you dealt with the impact the condition has on your mental health?
I’ve been lucky enough to have great friends who have helped me when I’ve been physically unwell at university and they’ve been generally interested in wanting to know more about what’s going on. I have begun a course to become a counsellor, and for that you have to go to counselling yourself. In those sessions, Scimitar syndrome came up in conversation. Now we’re working through that to pick up life experiences that I hadn’t realised had affected me so much, but that actually had. I think there’s support out there, but it’s important to not to push yourself too much.
What are the biggest challenges of living with a rare disease?
The unknown, definitely. Doctors and other healthcare professionals, let alone people with the condition or those who’ve never heard of it, have no idea if there’s a cure, or when there might be a cure, or which treatments will be best. We live day by day with the disease, not knowing what’s going to happen next. And actually, we know the doctors don’t know either. I’ve had cardiologists and respiratory doctors where I’ve been the only patient they’ve treated with the condition. That’s fine, but they’re learning just as much as I am, so there’s not much they can do to make me better before they learn more information.
What advice would you give to someone who finds they have Scimitar syndrome?
Get all the information you can, but also try and be an advocate for yourself. The more advocacy we do together, the more doctors and researchers are going to learn and maybe research will be done in the future. In order for the person to be supported as much as possible, it’s important for them to be able to put work in themselves. It’s also important to adapt to your limits: don’t be afraid to say ‘I can’t do this’ or ‘I can’t do that’. It’s okay. Really, make sure your physical and mental health are in line, because they work with one another and both are just so important.
What changes would you like to see in the way society treats rare diseases?
I think mainly I’d like to see more compassion, and willingness from doctors and nurses to learn. We are the ones that are affected by it and we know that you might not know what the condition is straight off. We don’t mind if you ask questions, and we want you to ask questions more than just guessing. When I was A&E, when I was working away, I told a woman that I’ve got Scimitar syndrome, these are the symptoms, and she said, ‘oh, that’s interesting bedtime reading for me’, sounding very positive about it. It can be the way they ask questions, because obviously at that point I didn’t feel very reassured that I was being cared for in the best way possible.
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